#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
PRAMEF6	440561	broad.mit.edu	37	1	13001318	13001318	+	Missense_Mutation	SNP	C	C	A	rs369280436		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:13001318C>A	ENST00000376189.1	-	3	464	c.365G>T	c.(364-366)cGt>cTt	p.R122L	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.R122L|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	122					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R122L(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGCACCCACGGGCCATAGC	0.502																																						uc001auq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)CGT>CTT		PRAME family member 6							291.0	443.0	388.0					1																	13001318		1510	2707	4217	SO:0001583	missense	440561							g.chr1:13001318C>A		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.365G>T	1.37:g.13001318C>A	ENSP00000365360:p.Arg122Leu					PRAMEF5_uc001aur.2_Intron	p.R122L	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	451	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	122					A0AUJ9	Missense_Mutation	SNP	ENST00000376189.1	37	c.365G>T	CCDS30594.1	.	.	.	.	.	.	.	.	.	.	.	0	-2.683238	0.00101	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.11169	2.8;2.8;2.8	1.52	-3.03	0.05429	.	7.429810	0.00166	N	0.000002	T	0.03608	0.0103	N	0.01352	-0.895	0.09310	N	1	B	0.19200	0.034	B	0.23275	0.045	T	0.32745	-0.9895	10	0.09084	T	0.74	.	5.3715	0.16142	0.0:0.3969:0.2883:0.3148	.	122	Q5VXH4	PRAM6_HUMAN	L	122	ENSP00000365360:R122L;ENSP00000401281:R122L;ENSP00000347211:R122L	ENSP00000347211:R122L	R	-	2	0	PRAMEF6	12923905	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.518000	0.06267	-3.995000	0.00083	-3.780000	0.00021	CGT		PASS	0.502	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001010889		68	355	68	355	---	---	---	---
KLHDC7A	127707	broad.mit.edu	37	1	18808058	18808058	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:18808058G>A	ENST00000400664.1	+	1	635	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	195						integral component of membrane (GO:0016021)		p.E195K(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)		TAAACCCCGTGAGCATCCAGG	0.612																																						uc001bax.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(583-585)GAG>AAG		kelch domain containing 7A							43.0	44.0	44.0					1																	18808058		2203	4300	6503	SO:0001583	missense	127707					integral to membrane		g.chr1:18808058G>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.583G>A	1.37:g.18808058G>A	ENSP00000383505:p.Glu195Lys					KLHDC7A_uc009vpg.2_5'UTR	p.E195K	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	635	+		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)	195					Q8N8W6	Missense_Mutation	SNP	ENST00000400664.1	37	c.583G>A	CCDS185.2	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932230	0.34096	.	.	ENSG00000179023	ENST00000400664;ENST00000540290	T	0.78924	-1.22	5.17	-1.32	0.09201	.	1.365360	0.05863	U	0.623361	T	0.59569	0.2203	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.37502	-0.9703	10	0.18276	T	0.48	.	5.8205	0.18524	0.3598:0.126:0.5142:0.0	.	195	Q5VTJ3	KLD7A_HUMAN	K	195;132	ENSP00000383505:E195K	ENSP00000383505:E195K	E	+	1	0	KLHDC7A	18680645	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.024000	0.13555	-0.097000	0.12307	-1.292000	0.01352	GAG		PASS	0.612	KLHDC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006923.3	NM_152375		14	29	14	29	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22211643	22211643	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:22211643G>A	ENST00000374695.3	-	11	1297	c.1218C>T	c.(1216-1218)ccC>ccT	p.P406P		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	406	Ig-like C2-type 1.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.P406P(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TCACCACCTGGGGGGGCACTG	0.667																																						uc001bfj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(1216-1218)CCC>CCT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						10.0	13.0	12.0					1																	22211643		2198	4283	6481	SO:0001819	synonymous_variant	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22211643G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.1218C>T	1.37:g.22211643G>A						HSPG2_uc009vqd.2_Silent_p.P406P	p.P406P	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	11	1258	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	406			Ig-like C2-type 1.		Q16287|Q5SZI3|Q9H3V5	Silent	SNP	ENST00000374695.3	37	c.1218C>T	CCDS30625.1																																																																																				PASS	0.667	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		11	14	11	14	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27874402	27874402	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:27874402T>G	ENST00000247087.5	-	5	4821	c.4225A>C	c.(4225-4227)Aag>Cag	p.K1409Q	AHDC1_ENST00000374011.2_Missense_Mutation_p.K1409Q			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1409							DNA binding (GO:0003677)	p.K1409Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		AGCTCTTCCTTGAAGCCCAGT	0.672																																						uc009vsy.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(4225-4227)AAG>CAG		AT hook, DNA binding motif, containing 1							31.0	31.0	31.0					1																	27874402		2198	4291	6489	SO:0001583	missense	27245						DNA binding	g.chr1:27874402T>G	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4225A>C	1.37:g.27874402T>G	ENSP00000247087:p.Lys1409Gln					AHDC1_uc009vsz.1_Missense_Mutation_p.K1409Q	p.K1409Q	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	5194	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1409					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Missense_Mutation	SNP	ENST00000247087.5	37	c.4225A>C	CCDS30652.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149228	0.37923	.	.	ENSG00000126705	ENST00000247087;ENST00000374011	T;T	0.54675	0.56;0.56	5.67	5.67	0.87782	.	0.070422	0.52532	D	0.000078	T	0.47710	0.1460	N	0.19112	0.55	0.34846	D	0.741209	D	0.56968	0.978	P	0.53146	0.719	T	0.63033	-0.6727	10	0.72032	D	0.01	-14.1362	9.4165	0.38525	0.0:0.0802:0.0:0.9198	.	1409	Q5TGY3	AHDC1_HUMAN	Q	1409	ENSP00000247087:K1409Q;ENSP00000363123:K1409Q	ENSP00000247087:K1409Q	K	-	1	0	AHDC1	27746989	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.212000	0.58514	2.178000	0.69098	0.533000	0.62120	AAG		PASS	0.672	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			58	42	58	42	---	---	---	---
C1orf216	127703	broad.mit.edu	37	1	36181836	36181836	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:36181836T>A	ENST00000270815.4	-	2	857	c.87A>T	c.(85-87)ccA>ccT	p.P29P	C1orf216_ENST00000503824.1_5'UTR	NM_152374.1	NP_689587.1	Q8TAB5	CA216_HUMAN	chromosome 1 open reading frame 216	29								p.P29P(1)		kidney(2)|lung(3)|skin(2)|urinary_tract(1)	8		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AGTTGCTGTCTGGTTGGAGCT	0.572											OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bzh.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(85-87)CCA>CCT		hypothetical protein LOC127703							78.0	70.0	73.0					1																	36181836		2203	4300	6503	SO:0001819	synonymous_variant	127703							g.chr1:36181836T>A	AK096303	CCDS395.1	1p34.3	2007-08-10			ENSG00000142686	ENSG00000142686			26800	protein-coding gene	gene with protein product						12477932	Standard	NM_152374		Approved	FLJ38984	uc001bzh.1	Q8TAB5	OTTHUMG00000004167	ENST00000270815.4:c.87A>T	1.37:g.36181836T>A			OREG0013357	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	861		p.P29P	NM_152374	NP_689587	Q8TAB5	CA216_HUMAN			2	575	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)	29					D3DPS1|Q8N8N6	Silent	SNP	ENST00000270815.4	37	c.87A>T	CCDS395.1																																																																																				PASS	0.572	C1orf216-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012013.3	NM_152374		41	35	41	35	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39910348	39910348	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:39910348G>A	ENST00000372915.3	+	79	19230	c.19143G>A	c.(19141-19143)caG>caA	p.Q6381Q	MACF1_ENST00000361689.2_Silent_p.Q4423Q|MACF1_ENST00000564288.1_Silent_p.Q6482Q|MACF1_ENST00000317713.7_Silent_p.Q4423Q|MACF1_ENST00000289893.4_Silent_p.Q4925Q|MACF1_ENST00000567887.1_Silent_p.Q6519Q|MACF1_ENST00000539005.1_Silent_p.Q4293Q|MACF1_ENST00000545844.1_Silent_p.Q4423Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6381					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.Q4925Q(1)|p.Q4423Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCTATTCCCAGCTGAAAGCCA	0.443																																						uc010oiu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(14773-14775)CAG>CAA		microfilament and actin filament cross-linker							70.0	67.0	68.0					1																	39910348		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39910348G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.19143G>A	1.37:g.39910348G>A						MACF1_uc010ois.1_Silent_p.Q4423Q	p.Q4925Q	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		45	14906	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.14775G>A		.	.	.	.	.	.	.	.	.	.	G	8.613	0.889560	0.17540	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.16	1.0	0.19881	.	.	.	.	.	T	0.57504	0.2058	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49457	-0.8938	4	.	.	.	.	9.4678	0.38824	0.415:0.0:0.585:0.0	.	.	.	.	T	3427	.	.	A	+	1	0	MACF1	39682935	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	1.668000	0.37481	-0.052000	0.13311	-0.143000	0.13931	GCT		PASS	0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	47	3	47	---	---	---	---
PABPC4	8761	broad.mit.edu	37	1	40029580	40029582	+	Missense_Mutation	TNP	CCG	CCG	AGA			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:40029580_40029582CCG>AGA	ENST00000372857.3	-	11	2210_2212	c.1418_1420CGG>TCT	c.(1417-1422)cCGGac>cTCTac	p.473_474PD>LY	PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.489_490PD>LY	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	473					blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)	p.P473P(1)|p.P473L(1)|p.D474Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCCAAGCGGTCCGGGCACTCAGA	0.576																																						uc010oiv.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(1420-1422)GAC>TAC|c.(1417-1419)CCG>CCC|c.(1417-1419)CCG>CTG		poly A binding protein, cytoplasmic 4 isoform 2																																				SO:0001583	missense	8761				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	g.chr1:40029580C>A|g.chr1:40029581C>G|g.chr1:40029582G>A	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1418_1420CGG>TCT	1.37:g.40029580CCG>AGA	ENSP00000361948:p.P473_D474delinsLY					PABPC4_uc001cdl.2_Missense_Mutation_p.D490Y|PABPC4_uc001cdm.2_Intron|PABPC4_uc001cdl.2_Silent_p.P489P|PABPC4_uc001cdm.2_Intron|PABPC4_uc001cdl.2_Missense_Mutation_p.P489L|PABPC4_uc001cdm.2_Intron	p.D474Y|p.P473P|p.P473L	NM_003819	NP_003810	Q13310	PABP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		11	2318|2317|2316	-	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	474|473|473					B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation|Silent|Missense_Mutation	SNP	ENST00000372857.3	37	c.1420G>T|c.1419G>C|c.1418C>T	CCDS438.1																																																																																				PASS	0.576	PABPC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025220.1	NM_001135653		7|8|8	35	7	35	---	---	---	---
FAM159A	348378	broad.mit.edu	37	1	53122665	53122665	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:53122665G>T	ENST00000517870.1	+	3	676	c.526G>T	c.(526-528)Gag>Tag	p.E176*	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	176						integral component of membrane (GO:0016021)		p.E176*(1)		endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGGCAGCCCTGAGGAAGCCTC	0.527																																						uc001cuf.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(526-528)GAG>TAG		hypothetical protein LOC348378							202.0	211.0	208.0					1																	53122665		2064	4209	6273	SO:0001587	stop_gained	348378					integral to membrane		g.chr1:53122665G>T		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.526G>T	1.37:g.53122665G>T	ENSP00000429726:p.Glu176*					FAM159A_uc001cug.1_Intron|FAM159A_uc001cuh.2_Intron	p.E176*	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN			3	626	+			176					Q6ZRG4	Nonsense_Mutation	SNP	ENST00000517870.1	37	c.526G>T	CCDS41336.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389260	0.42410	.	.	ENSG00000182183	ENST00000517870	.	.	.	3.55	2.63	0.31362	.	.	.	.	.	.	.	.	.	.	.	0.36373	D	0.861429	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	6.7887	0.23687	0.1275:0.0:0.8725:0.0	.	.	.	.	X	176	.	ENSP00000429726:E176X	E	+	1	0	FAM159A	52895253	0.991000	0.36638	0.671000	0.29857	0.554000	0.35429	0.773000	0.26661	1.086000	0.41228	0.563000	0.77884	GAG		PASS	0.527	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		129	142	129	142	---	---	---	---
CDCP2	200008	broad.mit.edu	37	1	54606960	54606960	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:54606960C>A	ENST00000371330.1	-	3	1421	c.574G>T	c.(574-576)Gtg>Ttg	p.V192L	RP11-446E24.4_ENST00000525949.1_5'UTR|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	192	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.V192L(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						TTGCCCTCCACCTGGAAGTCC	0.637																																						uc001cwv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(574-576)GTG>TTG		CUB domain containing protein 2 precursor							76.0	68.0	71.0					1																	54606960		2203	4300	6503	SO:0001583	missense	200008					extracellular region		g.chr1:54606960C>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.574G>T	1.37:g.54606960C>A	ENSP00000360381:p.Val192Leu						p.V192L	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			3	1422	-			192			CUB 2.		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	c.574G>T	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515418	0.44763	.	.	ENSG00000157211	ENST00000371330	T	0.15256	2.44	5.04	3.17	0.36434	CUB (5);	0.259629	0.32819	N	0.005620	T	0.04407	0.0121	N	0.01729	-0.75	0.35896	D	0.830033	B	0.13145	0.007	B	0.14023	0.01	T	0.33394	-0.9870	10	0.02654	T	1	-12.524	5.3347	0.15951	0.0:0.5755:0.1488:0.2758	.	192	Q5VXM1	CDCP2_HUMAN	L	192	ENSP00000360381:V192L	ENSP00000360381:V192L	V	-	1	0	CDCP2	54379548	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	0.886000	0.28241	0.711000	0.32018	0.561000	0.74099	GTG		PASS	0.637	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546		34	37	34	37	---	---	---	---
PDE4B	5142	broad.mit.edu	37	1	66384311	66384311	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:66384311G>T	ENST00000329654.4	+	3	261	c.74G>T	c.(73-75)aGt>aTt	p.S25I	PDE4B_ENST00000371049.3_Missense_Mutation_p.S25I	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	25					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.S25I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGTAGCTTGAGTAAATCCTAC	0.383																																						uc001dcn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(73-75)AGT>ATT		phosphodiesterase 4B isoform 1	Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)						72.0	70.0	71.0					1																	66384311		2203	4300	6503	SO:0001583	missense	5142				signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr1:66384311G>T	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.74G>T	1.37:g.66384311G>T	ENSP00000332116:p.Ser25Ile					PDE4B_uc009war.2_Intron|PDE4B_uc001dco.2_Missense_Mutation_p.S25I	p.S25I	NM_001037341	NP_001032418	Q07343	PDE4B_HUMAN			3	265	+			25					A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	37	c.74G>T	CCDS632.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225027	0.58668	.	.	ENSG00000184588	ENST00000329654;ENST00000341517;ENST00000371049	T;T;T	0.18016	2.24;2.24;2.24	5.6	5.6	0.85130	.	1.181280	0.05783	N	0.608891	T	0.22975	0.0555	L	0.34521	1.04	0.46927	D	0.999259	D	0.61697	0.99	D	0.66497	0.944	T	0.04565	-1.0942	10	0.22706	T	0.39	.	18.1588	0.89702	0.0:0.0:1.0:0.0	.	25	Q07343	PDE4B_HUMAN	I	25	ENSP00000332116:S25I;ENSP00000342637:S25I;ENSP00000360088:S25I	ENSP00000332116:S25I	S	+	2	0	PDE4B	66156899	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.614000	0.90917	2.626000	0.88956	0.650000	0.86243	AGT		PASS	0.383	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600		30	29	30	29	---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74507364	74507364	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:74507364G>T	ENST00000395089.1	-	6	1250	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L	LRRIQ3_ENST00000354431.4_Silent_p.L417L			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	417								p.L417L(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						TAAATGTTCGGAGTTTCATAC	0.368																																						uc001dfy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1249-1251)CTC>CTA		leucine-rich repeats and IQ motif containing 3							138.0	126.0	130.0					1																	74507364		1844	4079	5923	SO:0001819	synonymous_variant	127255							g.chr1:74507364G>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.1251C>A	1.37:g.74507364G>T						LRRIQ3_uc001dfz.3_Intron	p.L417L	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN			7	1443	-			417					A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Silent	SNP	ENST00000395089.1	37	c.1251C>A	CCDS41350.1																																																																																				PASS	0.368	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		45	47	45	47	---	---	---	---
LHX8	431707	broad.mit.edu	37	1	75606778	75606778	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:75606778C>A	ENST00000294638.5	+	5	1040	c.376C>A	c.(376-378)Ctt>Att	p.L126I	LHX8_ENST00000356261.3_Missense_Mutation_p.L116I|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	126	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L126I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTTCTGCAAACTTGATTATTT	0.378																																						uc001dgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(376-378)CTT>ATT		LIM homeobox 8							87.0	84.0	85.0					1																	75606778		2203	4299	6502	SO:0001583	missense	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75606778C>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.376C>A	1.37:g.75606778C>A	ENSP00000294638:p.Leu126Ile					LHX8_uc001dgq.2_Missense_Mutation_p.L65I	p.L126I	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			5	1040	+			126			LIM zinc-binding 1.		E9PGE3	Missense_Mutation	SNP	ENST00000294638.5	37	c.376C>A	CCDS30756.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.420276	0.62622	.	.	ENSG00000162624	ENST00000294638;ENST00000356261	D;D	0.87334	-2.24;-2.24	5.55	5.55	0.83447	Zinc finger, LIM-type (4);	0.058894	0.64402	D	0.000001	D	0.86552	0.5960	L	0.57536	1.79	0.58432	D	0.999992	D	0.53312	0.959	P	0.50490	0.642	D	0.84474	0.0601	10	0.31617	T	0.26	.	19.4996	0.95089	0.0:1.0:0.0:0.0	.	126	Q68G74	LHX8_HUMAN	I	126;116	ENSP00000294638:L126I;ENSP00000348597:L116I	ENSP00000294638:L126I	L	+	1	0	LHX8	75379366	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.712000	0.68407	2.606000	0.88127	0.650000	0.86243	CTT		PASS	0.378	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		44	51	44	51	---	---	---	---
LHX8	431707	broad.mit.edu	37	1	75606780	75606780	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:75606780T>A	ENST00000294638.5	+	5	1042	c.378T>A	c.(376-378)ctT>ctA	p.L126L	LHX8_ENST00000356261.3_Silent_p.L116L|LHX8_ENST00000559413.1_3'UTR	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	126	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L126L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TCTGCAAACTTGATTATTTCA	0.368																																						uc001dgo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(376-378)CTT>CTA		LIM homeobox 8							85.0	82.0	83.0					1																	75606780		2203	4299	6502	SO:0001819	synonymous_variant	431707					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:75606780T>A	AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.378T>A	1.37:g.75606780T>A						LHX8_uc001dgq.2_Silent_p.L65L	p.L126L	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN			5	1042	+			126			LIM zinc-binding 1.		E9PGE3	Silent	SNP	ENST00000294638.5	37	c.378T>A	CCDS30756.1																																																																																				PASS	0.368	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026700.1	NM_001001933		43	52	43	52	---	---	---	---
PLPPR4	9890	broad.mit.edu	37	1	99772006	99772006	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:99772006C>A	ENST00000370185.3	+	7	2229	c.1732C>A	c.(1732-1734)Caa>Aaa	p.Q578K	LPPR4_ENST00000370184.1_Missense_Mutation_p.Q420K|LPPR4_ENST00000457765.1_Missense_Mutation_p.Q520K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		578					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.Q578K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCGAATCATGCAAGTCATAGC	0.547																																						uc001dse.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1732-1734)CAA>AAA		plasticity related gene 1							60.0	60.0	60.0					1																	99772006		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99772006C>A																												ENST00000370185.3:c.1732C>A	1.37:g.99772006C>A	ENSP00000359204:p.Gln578Lys					LPPR4_uc010oue.1_Missense_Mutation_p.Q520K	p.Q578K	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1838	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	578					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1732C>A	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379540	0.82682	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.54279	1.06;0.61;0.58	5.92	5.92	0.95590	.	0.123853	0.56097	D	0.000032	T	0.67748	0.2926	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	0.982;1.0	D;D	0.91635	0.968;0.999	T	0.63695	-0.6579	9	.	.	.	-15.8544	20.3081	0.98638	0.0:1.0:0.0:0.0	.	520;578	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	578;520;420	ENSP00000359204:Q578K;ENSP00000394913:Q520K;ENSP00000359203:Q420K	.	Q	+	1	0	RP4-788L13.1	99544594	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.405000	0.80007	2.795000	0.96236	0.655000	0.94253	CAA		PASS	0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			37	23	37	23	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103412503	103412503	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:103412503C>A	ENST00000370096.3	-	42	3490	c.3178G>T	c.(3178-3180)Gga>Tga	p.G1060*	COL11A1_ENST00000358392.2_Nonsense_Mutation_p.G1072*|COL11A1_ENST00000512756.1_Nonsense_Mutation_p.G944*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.G1021*	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1060	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G1072*(1)|p.G1060*(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCACGTTCTCCTGGTGAGCCC	0.468																																						uc001dul.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(3178-3180)GGA>TGA		alpha 1 type XI collagen isoform A							32.0	31.0	31.0					1																	103412503		2203	4300	6503	SO:0001587	stop_gained	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103412503C>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3178G>T	1.37:g.103412503C>A	ENSP00000359114:p.Gly1060*					COL11A1_uc001duk.2_Nonsense_Mutation_p.G256*|COL11A1_uc001dum.2_Nonsense_Mutation_p.G1072*|COL11A1_uc001dun.2_Nonsense_Mutation_p.G1021*|COL11A1_uc009weh.2_Nonsense_Mutation_p.G944*	p.G1060*	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	42	3496	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1060			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Nonsense_Mutation	SNP	ENST00000370096.3	37	c.3178G>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	44	10.897336	0.99485	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0317	0.92960	0.0:1.0:0.0:0.0	.	.	.	.	X	1060;1072;1021;280;944	.	ENSP00000302551:G1021X	G	-	1	0	COL11A1	103185091	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.722000	0.84778	2.580000	0.87095	0.650000	0.86243	GGA		PASS	0.468	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		14	13	14	13	---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109795276	109795276	+	Missense_Mutation	SNP	G	G	C	rs201283895		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:109795276G>C	ENST00000271332.3	+	1	2636	c.2575G>C	c.(2575-2577)Gat>Cat	p.D859H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	859	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.D859H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGAGGCGACGATGGAGACGG	0.547																																					NSCLC(158;1285 2011 34800 34852 42084)	uc001dxa.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(1)	8						c.(2575-2577)GAT>CAT		cadherin EGF LAG seven-pass G-type receptor 2							115.0	104.0	108.0					1																	109795276		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795276G>C	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2575G>C	1.37:g.109795276G>C	ENSP00000271332:p.Asp859His						p.D859H	NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2636	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	859			Extracellular (Potential).|Cadherin 7.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2575G>C	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	18.40	3.615246	0.66672	.	.	ENSG00000143126	ENST00000271332	T	0.63580	-0.05	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73024	0.3534	M	0.63428	1.95	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.74910	-0.3503	9	0.59425	D	0.04	.	17.9457	0.89038	0.0:0.0:1.0:0.0	.	859	Q9HCU4	CELR2_HUMAN	H	859	ENSP00000271332:D859H	ENSP00000271332:D859H	D	+	1	0	CELSR2	109596799	1.000000	0.71417	0.952000	0.39060	0.906000	0.53458	9.601000	0.98297	2.557000	0.86248	0.456000	0.33151	GAT		PASS	0.547	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		27	30	27	30	---	---	---	---
CHI3L2	1117	broad.mit.edu	37	1	111784000	111784000	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:111784000G>T	ENST00000445067.2	+	11	1741	c.970G>T	c.(970-972)Gtt>Ttt	p.V324F	CHI3L2_ENST00000369744.2_Missense_Mutation_p.V314F|CHI3L2_ENST00000524472.1_Missense_Mutation_p.V245F|CHI3L2_ENST00000369748.4_Missense_Mutation_p.V324F|CHI3L2_ENST00000529459.1_3'UTR|CHI3L2_ENST00000466741.1_Missense_Mutation_p.V245F			Q15782	CH3L2_HUMAN	chitinase 3-like 2	324					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)	extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.V324F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GGATCAACAGGTTCCCTACGC	0.532																																						uc001eam.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(970-972)GTT>TTT		chitinase 3-like 2 isoform a							105.0	88.0	94.0					1																	111784000		2203	4300	6503	SO:0001583	missense	1117				chitin catabolic process	extracellular space	cation binding|chitinase activity	g.chr1:111784000G>T	U49835	CCDS30802.1, CCDS30803.1, CCDS41367.1	1p13.3	2008-02-05			ENSG00000064886	ENSG00000064886			1933	protein-coding gene	gene with protein product		601526				8702629	Standard	NM_001025197		Approved	YKL-39, YKL39	uc001eam.3	Q15782	OTTHUMG00000012174	ENST00000445067.2:c.970G>T	1.37:g.111784000G>T	ENSP00000437082:p.Val324Phe					CHI3L2_uc001ean.2_Missense_Mutation_p.V314F|CHI3L2_uc001eao.2_Missense_Mutation_p.V245F|CHI3L2_uc009wga.2_Intron	p.V324F	NM_004000	NP_003991	Q15782	CH3L2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)	9	1041	+		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	324					A6NNY3|B4DPR7|Q15749|Q15783|Q5VUV7|Q96F97	Missense_Mutation	SNP	ENST00000445067.2	37	c.970G>T	CCDS30802.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186281	0.57909	.	.	ENSG00000064886	ENST00000445067;ENST00000369744;ENST00000369748;ENST00000466741;ENST00000524472;ENST00000497220;ENST00000472825	T;T;T;T;T;T;T	0.20200	3.33;3.33;3.33;3.33;3.33;3.22;2.09	3.37	2.43	0.29744	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.31323	U	0.007841	T	0.32041	0.0816	M	0.77406	2.37	0.39860	D	0.973363	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.17137	-1.0379	10	0.87932	D	0	-3.3985	9.4129	0.38503	0.0:0.0:0.7854:0.2146	.	314;324	A6NNY3;Q15782	.;CH3L2_HUMAN	F	324;314;324;245;245;117;20	ENSP00000437082:V324F;ENSP00000358759:V314F;ENSP00000358763:V324F;ENSP00000437086:V245F;ENSP00000432049:V245F;ENSP00000435250:V117F;ENSP00000435935:V20F	ENSP00000358759:V314F	V	+	1	0	CHI3L2	111585523	1.000000	0.71417	0.976000	0.42696	0.637000	0.38172	6.813000	0.75231	0.573000	0.29400	0.655000	0.94253	GTT		PASS	0.532	CHI3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033669.4	NM_004000		28	30	28	30	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415810	145415810	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:145415810T>C	ENST00000336751.5	+	3	867	c.629T>C	c.(628-630)tTg>tCg	p.L210S	HFE2_ENST00000497365.1_Intron|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.L97S	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	210					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.L210S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCCATGGCGTTGGGGGCCAAC	0.572																																						uc001eni.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(628-630)TTG>TCG		hemojuvelin isoform a precursor							95.0	100.0	98.0					1																	145415810		2203	4300	6503	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145415810T>C	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.629T>C	1.37:g.145415810T>C	ENSP00000337014:p.Leu210Ser					NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_Missense_Mutation_p.L97S|HFE2_uc001enl.2_Intron	p.L210S	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN			3	954	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		210					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.629T>C	CCDS910.1	.	.	.	.	.	.	.	.	.	.	T	0.265	-0.997058	0.02145	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.97232	-4.3;-4.3	4.32	-1.19	0.09585	Repulsive guidance molecule, N-terminal (1);	2.326850	0.01757	N	0.030292	T	0.78046	0.4222	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.82263	-0.0544	10	0.09843	T	0.71	-13.6896	2.0101	0.03485	0.1405:0.4883:0.1376:0.2336	.	210	Q6ZVN8	RGMC_HUMAN	S	97;210	ENSP00000350495:L97S;ENSP00000337014:L210S	ENSP00000337014:L210S	L	+	2	0	HFE2	144127167	0.000000	0.05858	0.001000	0.08648	0.197000	0.23852	-1.256000	0.02869	-0.445000	0.07159	-0.378000	0.06908	TTG		PASS	0.572	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		126	142	126	142	---	---	---	---
C1orf43	25912	broad.mit.edu	37	1	154187017	154187017	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:154187017T>A	ENST00000368521.5	-	3	400	c.202A>T	c.(202-204)Agg>Tgg	p.R68W	C1orf43_ENST00000350592.3_Missense_Mutation_p.R34W|C1orf43_ENST00000368519.1_Missense_Mutation_p.R68W|C1orf43_ENST00000368518.1_Missense_Mutation_p.R68W|C1orf43_ENST00000368516.1_Missense_Mutation_p.R34W|C1orf43_ENST00000362076.4_Missense_Mutation_p.R34W	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	68						integral component of membrane (GO:0016021)	coenzyme binding (GO:0050662)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)	p.R34W(1)|p.R68W(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					TCCTGAACCCTGGAGAGTCGA	0.423																																						uc001fei.2																			2	Substitution - Missense(2)		lung(2)		0						c.(202-204)AGG>TGG		hypothetical protein LOC25912 isoform 3							141.0	134.0	136.0					1																	154187017		2203	4300	6503	SO:0001583	missense	25912					integral to membrane	coenzyme binding|oxidoreductase activity	g.chr1:154187017T>A	AF077036	CCDS1061.1, CCDS1062.1, CCDS41404.1, CCDS72924.1	1q21.2	2012-06-25			ENSG00000143612	ENSG00000143612			29876	protein-coding gene	gene with protein product						11042152, 11230159	Standard	XM_005245077		Approved	NICE-3, DKFZp586G1722	uc001fei.2	Q9BWL3	OTTHUMG00000035981	ENST00000368521.5:c.202A>T	1.37:g.154187017T>A	ENSP00000357507:p.Arg68Trp					C1orf43_uc001fef.1_5'Flank|C1orf43_uc001feg.2_Missense_Mutation_p.R34W|C1orf43_uc001feh.2_Missense_Mutation_p.R34W|C1orf43_uc001fej.2_Missense_Mutation_p.R68W|C1orf43_uc009wos.1_Missense_Mutation_p.R68W|C1orf43_uc001fek.2_Missense_Mutation_p.R68W|C1orf43_uc001fel.2_Missense_Mutation_p.R34W	p.R68W	NM_001098616	NP_001092086	Q9BWL3	CA043_HUMAN			3	592	-	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)		68					A8K3G8|D3DV72|D3DV74|Q5M801|Q5VU73|Q5VU83|Q96HP7|Q9UFU2|Q9UGL7|Q9UGL8|Q9Y2R6	Missense_Mutation	SNP	ENST00000368521.5	37	c.202A>T	CCDS41404.1	.	.	.	.	.	.	.	.	.	.	T	33	5.267828	0.95399	.	.	ENSG00000143612	ENST00000350592;ENST00000368521;ENST00000362076;ENST00000368519;ENST00000368518;ENST00000368516	.	.	.	5.91	5.91	0.95273	.	0.228779	0.51477	D	0.000096	T	0.68430	0.3000	M	0.61703	1.905	0.58432	D	0.99999	D;P;D;P;D	0.64830	0.994;0.948;0.986;0.878;0.958	D;P;P;P;P	0.64321	0.924;0.815;0.896;0.664;0.884	T	0.68484	-0.5396	9	0.39692	T	0.17	-15.405	15.5312	0.75964	0.0:0.0:0.0:1.0	.	68;34;68;34;34	Q9BWL3-5;Q9BWL3-2;Q9BWL3;Q9BWL3-4;Q09GN0	.;.;CA043_HUMAN;.;.	W	34;68;34;68;68;34	.	ENSP00000271925:R34W	R	-	1	2	C1orf43	152453641	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.255000	0.43222	2.270000	0.75569	0.528000	0.53228	AGG		PASS	0.423	C1orf43-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087664.2	NM_015449		98	81	98	81	---	---	---	---
PKLR	5313	broad.mit.edu	37	1	155265282	155265282	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:155265282C>A	ENST00000342741.4	-	4	491	c.453G>T	c.(451-453)gtG>gtT	p.V151V	PKLR_ENST00000392414.3_Silent_p.V120V	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	151					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.V151V(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGGCGATGGCCACGGGCCGGT	0.692																																						uc001fkb.3																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(1)	5						c.(451-453)GTG>GTT		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						25.0	25.0	25.0					1																	155265282		2199	4299	6498	SO:0001819	synonymous_variant	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155265282C>A	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.453G>T	1.37:g.155265282C>A						RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Silent_p.V120V|PKLR_uc010pga.1_Silent_p.V87V	p.V151V	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		4	492	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		151					O75758|P11973	Silent	SNP	ENST00000342741.4	37	c.453G>T	CCDS1109.1																																																																																				PASS	0.692	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		21	13	21	13	---	---	---	---
LAMTOR2	28956	broad.mit.edu	37	1	156027821	156027821	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:156027821C>A	ENST00000368305.4	+	3	422	c.284C>A	c.(283-285)gCc>gAc	p.A95D	LAMTOR2_ENST00000368302.3_Missense_Mutation_p.A95D|LAMTOR2_ENST00000368304.5_Intron	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	95					activation of MAPKK activity (GO:0000186)|cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)	extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|Ragulator complex (GO:0071986)		p.A95D(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						TGTATGTATGCCAAGGAGACC	0.562																																						uc001fnb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)GCC>GAC		roadblock domain-containing protein 3 isoform 1							211.0	158.0	176.0					1																	156027821		2203	4300	6503	SO:0001583	missense	28956				cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex		g.chr1:156027821C>A	BC024190	CCDS1128.1, CCDS44243.1	1q22	2014-09-17	2011-02-15	2011-02-15	ENSG00000116586	ENSG00000116586			29796	protein-coding gene	gene with protein product	"""mitogen activated protein binding protein interacting protein"", ""MAPKSP1 adaptor protein"", ""endosomal adaptor protein"""	610389	"""roadblock domain containing 3"""	ROBLD3		11042152	Standard	NM_014017		Approved	MAPBPIP, MAPKSP1AP, p14, ENDAP, Ragulator2	uc001fnb.3	Q9Y2Q5	OTTHUMG00000017462	ENST00000368305.4:c.284C>A	1.37:g.156027821C>A	ENSP00000357288:p.Ala95Asp					ROBLD3_uc010pgy.1_Intron	p.A95D	NM_014017	NP_054736	Q9Y2Q5	LTOR2_HUMAN			3	448	+			95					Q5VY97|Q5VY98|Q5VY99	Missense_Mutation	SNP	ENST00000368305.4	37	c.284C>A	CCDS1128.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148263	0.94603	.	.	ENSG00000116586	ENST00000368305;ENST00000368302	T	0.26518	1.73	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.86573	2.825	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.60372	-0.7276	10	0.87932	D	0	-9.8468	17.8586	0.88773	0.0:1.0:0.0:0.0	.	95	Q9Y2Q5	LTOR2_HUMAN	D	95	ENSP00000357288:A95D	ENSP00000357285:A95D	A	+	2	0	LAMTOR2	154294445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.190000	0.77755	2.563000	0.86464	0.655000	0.94253	GCC		PASS	0.562	LAMTOR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046197.1	NM_014017		90	90	90	90	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156843688	156843688	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:156843688G>T	ENST00000524377.1	+	8	1155	c.1114G>T	c.(1114-1116)Gcc>Tcc	p.A372S	NTRK1_ENST00000358660.3_Missense_Mutation_p.A372S|NTRK1_ENST00000392302.2_Missense_Mutation_p.A342S|NTRK1_ENST00000368196.3_Missense_Mutation_p.A372S	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	372					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.A342S(1)|p.A372S(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CCAGGCCTCCGCCTCCATCAT	0.652			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - Missense(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1114-1116)GCC>TCC		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						57.0	38.0	44.0					1																	156843688		2195	4294	6489	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156843688G>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1114G>T	1.37:g.156843688G>T	ENSP00000431418:p.Ala372Ser	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.A342S|NTRK1_uc009wsi.1_Missense_Mutation_p.A77S|NTRK1_uc001fqi.1_Missense_Mutation_p.A372S|NTRK1_uc009wsk.1_Missense_Mutation_p.A372S	p.A372S	NM_002529	NP_002520	P04629	NTRK1_HUMAN			8	1170	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		372			Extracellular (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1114G>T	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	G	9.565	1.119543	0.20877	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.95	5.95	0.96441	Immunoglobulin-like fold (1);	0.733900	0.12614	N	0.453562	T	0.22781	0.0550	M	0.65498	2.005	0.09310	N	1	B;B;B;B	0.28026	0.001;0.008;0.198;0.002	B;B;B;B	0.33254	0.017;0.012;0.16;0.04	T	0.10154	-1.0642	9	.	.	.	.	15.3701	0.74557	0.0:0.1398:0.8602:0.0	.	372;372;372;342	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	S	342;372;372;372	ENSP00000376120:A342S;ENSP00000357179:A372S;ENSP00000431418:A372S;ENSP00000351486:A372S	.	A	+	1	0	NTRK1	155110312	0.003000	0.15002	0.012000	0.15200	0.001000	0.01503	1.362000	0.34148	2.824000	0.97209	0.655000	0.94253	GCC		PASS	0.652	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		9	9	9	9	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156845871	156845871	+	Splice_Site	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:156845871G>T	ENST00000524377.1	+	13	1542		c.e13-1		NTRK1_ENST00000358660.3_Missense_Mutation_p.G498C|NTRK1_ENST00000392302.2_Splice_Site|NTRK1_ENST00000368196.3_Splice_Site	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1						activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	AGCCCCCTCAGGTGTTCACCA	0.642			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Unknown(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.e13-1		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						71.0	73.0	73.0					1																	156845871		2203	4300	6503	SO:0001630	splice_region_variant	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845871G>T	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1502-1G>T	1.37:g.156845871G>T		TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Splice_Site_p.C465_splice|NTRK1_uc009wsi.1_Splice_Site_p.C200_splice|NTRK1_uc001fqi.1_Splice_Site_p.C495_splice|NTRK1_uc009wsk.1_Missense_Mutation_p.G498C	p.C501_splice	NM_002529	NP_002520	P04629	NTRK1_HUMAN			13	1558	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)							B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Splice_Site	SNP	ENST00000524377.1	37	c.1502_splice	CCDS1161.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.968364|3.968364	0.74131|0.74131	.|.	.|.	ENSG00000198400|ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377|ENST00000358660	.|D	.|0.89270	.|-2.49	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67859	.|0.2938	.|.	.|.	.|.	0.25443|0.25443	N|N	0.988079|0.988079	.|B	.|0.33280	.|0.405	.|B	.|0.31191	.|0.125	.|T	.|0.56523	.|-0.7965	.|8	.|0.16896	.|T	.|0.51	.|.	11.7621|11.7621	0.51910|0.51910	0.0:0.0:0.824:0.176|0.0:0.0:0.824:0.176	.|.	.|498	.|A8K3Z4	.|.	.|C	-1|498	.|ENSP00000351486:G498C	.|ENSP00000351486:G498C	.|G	+|+	.|1	.|0	NTRK1|NTRK1	155112495|155112495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.958000|0.958000	0.62258|0.62258	9.657000|9.657000	0.98554|0.98554	2.504000|2.504000	0.84457|0.84457	0.462000|0.462000	0.41574|0.41574	.|GGT		PASS	0.642	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529	Intron	53	208	53	208	---	---	---	---
OR10X1	128367	broad.mit.edu	37	1	158549355	158549355	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:158549355C>T	ENST00000368150.1	-	1	334	c.335G>A	c.(334-336)gGt>gAt	p.G112D		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G112D(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					TAAGCTACAACCTGTGACTGA	0.488																																						uc010pin.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(334-336)GGT>GAT		olfactory receptor, family 10, subfamily X,							99.0	100.0	100.0					1																	158549355		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549355C>T	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.335G>A	1.37:g.158549355C>T	ENSP00000357132:p.Gly112Asp						p.G112D	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	335	-	all_hematologic(112;0.0378)		112			Extracellular (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.335G>A	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.377630	0.24944	.	.	ENSG00000186400	ENST00000368150	T	0.09723	2.95	5.0	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.130398	0.35151	N	0.003404	T	0.12475	0.0303	L	0.57536	1.79	0.09310	N	1	D	0.71674	0.998	P	0.62491	0.903	T	0.03750	-1.1007	10	0.62326	D	0.03	.	9.3584	0.38182	0.0:0.8274:0.0:0.1726	.	112	Q8NGY0	O10X1_HUMAN	D	112	ENSP00000357132:G112D	ENSP00000357132:G112D	G	-	2	0	OR10X1	156815979	0.001000	0.12720	0.092000	0.20876	0.200000	0.23975	0.976000	0.29462	1.311000	0.45024	0.557000	0.71058	GGT		PASS	0.488	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2	NM_001004477		22	75	22	75	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687440	158687440	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:158687440G>C	ENST00000368146.1	-	1	513	c.514C>G	c.(514-516)Ctg>Gtg	p.L172V	OR6K3_ENST00000368145.1_Missense_Mutation_p.L156V			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L172V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TCGGGAAGCAGGATAAGGAAA	0.522																																						uc010pip.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(514-516)CTG>GTG		olfactory receptor, family 6, subfamily K,							99.0	100.0	100.0					1																	158687440		2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158687440G>C	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.514C>G	1.37:g.158687440G>C	ENSP00000357128:p.Leu172Val						p.L172V	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	514	-	all_hematologic(112;0.0378)		172			Helical; Name=4; (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.514C>G		.	.	.	.	.	.	.	.	.	.	g	0.031	-1.334374	0.01287	.	.	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.36699	1.24;1.24	3.82	-1.6	0.08426	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.04861	0.0131	N	0.08118	0	0.09310	N	1	B	0.26672	0.156	B	0.29267	0.1	T	0.42783	-0.9431	9	0.17369	T	0.5	.	5.5348	0.17005	0.5752:0.0:0.275:0.1498	.	172	Q8NGY3	OR6K3_HUMAN	V	156;172	ENSP00000357127:L156V;ENSP00000357128:L172V	ENSP00000357127:L156V	L	-	1	2	OR6K3	156954064	0.000000	0.05858	0.000000	0.03702	0.304000	0.27724	-2.790000	0.00767	-0.466000	0.06943	-0.473000	0.04963	CTG		PASS	0.522	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				39	130	39	130	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	158988388	158988388	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:158988388C>G	ENST00000295809.7	+	5	1174	c.919C>G	c.(919-921)Ctt>Gtt	p.L307V	IFI16_ENST00000340979.6_Missense_Mutation_p.L307V|IFI16_ENST00000430894.2_Missense_Mutation_p.L255V|IFI16_ENST00000448393.2_Missense_Mutation_p.L307V|IFI16_ENST00000368131.4_Missense_Mutation_p.L307V|IFI16_ENST00000359709.3_Missense_Mutation_p.L251V|IFI16_ENST00000368132.3_Missense_Mutation_p.L307V			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	307	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|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)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)	p.L307V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					GATTGATATTCTTCACAAACA	0.353																																						uc001ftf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(919-921)CTT>GTT		interferon, gamma-inducible protein 16							74.0	81.0	79.0					1																	158988388		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988388C>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.919C>G	1.37:g.158988388C>G	ENSP00000295809:p.Leu307Val					IFI16_uc001ftg.2_Missense_Mutation_p.L307V|IFI16_uc010pis.1_Missense_Mutation_p.L251V	p.L307V	NM_005531	NP_005522	Q16666	IF16_HUMAN			6	1526	+	all_hematologic(112;0.0429)		307			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.919C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.33|11.33	1.606024|1.606024	0.28623|0.28623	.|.	.|.	ENSG00000163565|ENSG00000163565	ENST00000448393|ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	.|T;T;T;T;T	.|0.21191	.|2.02;2.02;2.02;2.02;2.02	3.09|3.09	0.484|0.484	0.16825|0.16825	.|HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.|.	.|.	.|.	.|.	T|T	0.12774|0.12774	0.0310|0.0310	M|M	0.80616|0.80616	2.505|2.505	0.09310|0.09310	N|N	1|1	.|P;P;P	.|0.39391	.|0.671;0.62;0.671	.|B;B;B	.|0.40659	.|0.336;0.226;0.336	T|T	0.11518|0.11518	-1.0584|-1.0584	5|8	.|.	.|.	.|.	.|.	7.9958|7.9958	0.30267|0.30267	0.6133:0.3867:0.0:0.0|0.6133:0.3867:0.0:0.0	.|.	.|255;307;307	.|E7EPR3;Q16666-2;Q16666	.|.;.;IF16_HUMAN	L|V	127|307;307;307;307;255	.|ENSP00000295809:L307V;ENSP00000342741:L307V;ENSP00000357113:L307V;ENSP00000357114:L307V;ENSP00000394935:L255V	.|.	F|L	+|+	3|1	2|0	IFI16|IFI16	157255012|157255012	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.417000|-0.417000	0.07088|0.07088	-0.054000|-0.054000	0.13266|0.13266	-0.410000|-0.410000	0.06199|0.06199	TTC|CTT		PASS	0.353	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		44	146	44	146	---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160607207	160607207	+	Silent	SNP	G	G	T	rs35824111		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:160607207G>T	ENST00000302035.6	-	2	538	c.189C>A	c.(187-189)gtC>gtA	p.V63V	SLAMF1_ENST00000538290.1_Silent_p.V63V|SLAMF1_ENST00000355199.3_Silent_p.V63V|SLAMF1_ENST00000235739.5_Silent_p.V63V	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	63	Ig-like V-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.V63V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CCATTGTGACGACAATGTGGA	0.463																																						uc001fwl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(187-189)GTC>GTA		signaling lymphocytic activation molecule family							177.0	136.0	150.0					1																	160607207		2203	4300	6503	SO:0001819	synonymous_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160607207G>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.189C>A	1.37:g.160607207G>T						SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Silent_p.V63V	p.V63V	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		2	535	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		63			Extracellular (Potential).		Q5W172|Q9HBE8	Silent	SNP	ENST00000302035.6	37	c.189C>A	CCDS1207.1																																																																																				PASS	0.463	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			33	119	33	119	---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161967994	161967994	+	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:161967994G>A	ENST00000294794.3	-	6	1518	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	OLFML2B_ENST00000367940.2_Silent_p.N366N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	365					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.N365N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18931	0.0		0.0	False		,,,				2504	0.0					uc001gbu.2																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	skin(1)	1						c.(1093-1095)AAC>AAT		olfactomedin-like 2B precursor		G		28,4378	34.3+/-65.2	0,28,2175	142.0	144.0	143.0		1095	-2.0	0.0	1	dbSNP_126	143	0,8600		0,0,4300	no	coding-synonymous	OLFML2B	NM_015441.1		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		365/751	161967994	28,12978	2203	4300	6503	SO:0001819	synonymous_variant	25903							g.chr1:161967994G>A	BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1095C>T	1.37:g.161967994G>A						OLFML2B_uc010pkq.1_Silent_p.N366N	p.N365N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0172)		6	1519	-	all_hematologic(112;0.156)		365					B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	c.1095C>T	CCDS1236.1																																																																																				PASS	0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441		74	305	74	305	---	---	---	---
C1orf226	400793	broad.mit.edu	37	1	162351745	162351745	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:162351745C>T	ENST00000458626.2	+	1	226	c.54C>T	c.(52-54)tcC>tcT	p.S18S	C1orf226_ENST00000426197.2_Silent_p.S61S|RP11-565P22.6_ENST00000431696.1_Silent_p.S127S	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	18								p.S61S(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						CCAGCCGCTCCTTCCCCCACT	0.622																																						uc001gby.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(52-54)TCC>TCT		hypothetical protein LOC400793 isoform 2							21.0	24.0	23.0					1																	162351745		1761	3862	5623	SO:0001819	synonymous_variant	400793							g.chr1:162351745C>T	AI480219, AK023199, AK125122, AL512785, BC127743	CCDS44268.1, CCDS53422.1	1q23.3	2013-10-11			ENSG00000239887	ENSG00000239887			34351	protein-coding gene	gene with protein product						14702039	Standard	NM_001085375		Approved	FLJ13137	uc010pkt.1	A1L170	OTTHUMG00000031376	ENST00000458626.2:c.54C>T	1.37:g.162351745C>T						C1orf226_uc010pkt.1_Silent_p.S61S	p.S18S	NM_001085375	NP_001078844	A1L170	CA226_HUMAN			1	226	+			18					B4DF31	Silent	SNP	ENST00000458626.2	37	c.54C>T	CCDS53422.1																																																																																				PASS	0.622	C1orf226-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076793.2	NM_001085375		16	48	16	48	---	---	---	---
NUF2	83540	broad.mit.edu	37	1	163297351	163297351	+	Splice_Site	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:163297351T>A	ENST00000271452.3	+	3	476	c.197T>A	c.(196-198)aTg>aAg	p.M66K	NUF2_ENST00000490881.1_3'UTR|NUF2_ENST00000367900.3_Splice_Site_p.M66K|NUF2_ENST00000524800.1_Splice_Site_p.M66K	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	66	Interaction with the N-terminus of NDC80.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|membrane (GO:0016020)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634)		p.M66K(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CATTTTTACATGGTGAGTTTA	0.348																																						uc001gcq.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(196-198)ATG>AAG		NUF2, NDC80 kinetochore complex component							154.0	156.0	155.0					1																	163297351		2203	4300	6503	SO:0001630	splice_region_variant	83540				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding	g.chr1:163297351T>A	BG354574	CCDS1245.1	1q23.3	2013-07-03	2013-07-03	2006-11-07	ENSG00000143228	ENSG00000143228			14621	protein-coding gene	gene with protein product	"""cancer/testis antigen 106"""	611772	"""cell division cycle associated 1"", ""NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae)"""	CDCA1		11266451, 11685532	Standard	NM_031423		Approved	NUF2R, CT106	uc001gcr.1	Q9BZD4	OTTHUMG00000034275	ENST00000271452.3:c.198+1T>A	1.37:g.163297351T>A						NUF2_uc001gcp.2_Missense_Mutation_p.M66K|NUF2_uc001gcr.1_Missense_Mutation_p.M66K|NUF2_uc009wvc.1_Missense_Mutation_p.M66K	p.M66K	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN			3	497	+	all_hematologic(923;0.101)		66			Interaction with the N-terminus of NDC80.		Q8WU69|Q96HJ4|Q96Q78	Missense_Mutation	SNP	ENST00000271452.3	37	c.197T>A	CCDS1245.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986391	0.53934	.	.	ENSG00000143228	ENST00000534289;ENST00000450453;ENST00000524800;ENST00000442820;ENST00000367900;ENST00000271452	T;T;T	0.32515	1.46;1.45;1.45	4.98	4.98	0.66077	.	0.198598	0.64402	D	0.000008	T	0.12518	0.0304	M	0.61703	1.905	0.46376	D	0.999011	B;P;B	0.36438	0.2;0.553;0.006	B;B;B	0.33890	0.082;0.172;0.01	T	0.04153	-1.0973	9	0.06099	T	0.92	-28.6917	12.586	0.56419	0.0:0.0:0.0:1.0	.	66;66;66	E9PQC4;Q9BZD4;B1AQT4	.;NUF2_HUMAN;.	K	66	ENSP00000436888:M66K;ENSP00000356875:M66K;ENSP00000271452:M66K	ENSP00000271452:M66K	M	+	2	0	NUF2	161563975	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	4.057000	0.57455	2.223000	0.72356	0.460000	0.39030	ATG		PASS	0.348	NUF2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000082812.1	NM_145697	Missense_Mutation	29	150	29	150	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173493188	173493188	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:173493188T>C	ENST00000367714.3	-	21	2982	c.2560A>G	c.(2560-2562)Atc>Gtc	p.I854V	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	854					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.I854V(1)									GGGGGTGGGATTGCCTTTGGA	0.348																																						uc001giz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2560-2562)ATC>GTC		solute carrier family 9, member 11							138.0	136.0	137.0					1																	173493188		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173493188T>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2560A>G	1.37:g.173493188T>C	ENSP00000356687:p.Ile854Val					SLC9A11_uc009wwe.2_Missense_Mutation_p.I412V	p.I854V	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			21	2983	-			854					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.2560A>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	12.80	2.046349	0.36085	.	.	ENSG00000162753	ENST00000367714	T	0.04275	3.66	5.62	3.3	0.37823	.	0.347156	0.24652	N	0.036714	T	0.01695	0.0054	L	0.46741	1.465	0.80722	D	1	B	0.28512	0.214	B	0.24848	0.056	T	0.46456	-0.9190	10	0.25106	T	0.35	-4.614	7.3534	0.26704	0.0:0.1759:0.0:0.8241	.	854	Q5TAH2	S9A11_HUMAN	V	854	ENSP00000356687:I854V	ENSP00000356687:I854V	I	-	1	0	SLC9A11	171759811	1.000000	0.71417	0.999000	0.59377	0.813000	0.45954	1.559000	0.36320	0.978000	0.38470	0.528000	0.53228	ATC		PASS	0.348	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		71	66	71	66	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175066586	175066586	+	Missense_Mutation	SNP	G	G	T	rs566394358		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:175066586G>T	ENST00000239462.4	+	8	1735	c.1622G>T	c.(1621-1623)cGg>cTg	p.R541L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	541	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.R541L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTGACTGACCGGGTGACTGAG	0.507																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(1621-1623)CGG>CTG		tenascin N precursor							58.0	59.0	59.0					1																	175066586		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175066586G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1622G>T	1.37:g.175066586G>T	ENSP00000239462:p.Arg541Leu					TNN_uc010pmx.1_Intron	p.R541L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	8	1735	+		Breast(1374;0.000962)	541			Fibronectin type-III 4.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.1622G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187040	0.38609	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.57595	0.39	5.63	2.58	0.30949	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.326553	0.25774	N	0.028384	T	0.50871	0.1641	M	0.85299	2.745	0.09310	N	1	B	0.11235	0.004	B	0.16289	0.015	T	0.51764	-0.8664	10	0.49607	T	0.09	.	4.0027	0.09587	0.3708:0.0:0.4763:0.153	.	541	Q9UQP3	TENN_HUMAN	L	541	ENSP00000239462:R541L	ENSP00000239462:R541L	R	+	2	0	TNN	173333209	0.000000	0.05858	0.292000	0.24919	0.969000	0.65631	0.771000	0.26633	0.243000	0.21327	0.655000	0.94253	CGG		PASS	0.507	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		51	67	51	67	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175335165	175335165	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:175335165G>T	ENST00000367674.2	-	11	2871	c.2163C>A	c.(2161-2163)acC>acA	p.T721T	TNR_ENST00000263525.2_Silent_p.T721T			Q92752	TENR_HUMAN	tenascin R	721	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.T721T(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CAGAGGATGGGGTAAAGGTAA	0.552																																						uc001gkp.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(2161-2163)ACC>ACA		tenascin R precursor							165.0	154.0	158.0					1																	175335165		2203	4300	6503	SO:0001819	synonymous_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175335165G>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2163C>A	1.37:g.175335165G>T						TNR_uc009wwu.1_Silent_p.T721T	p.T721T	NM_003285	NP_003276	Q92752	TENR_HUMAN			9	2244	-	Renal(580;0.146)		721			Fibronectin type-III 5.		C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	c.2163C>A	CCDS1318.1																																																																																				PASS	0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		28	141	28	141	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177933402	177933402	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:177933402C>T	ENST00000308284.6	-	5	635	c.546G>A	c.(544-546)agG>agA	p.R182R	SEC16B_ENST00000464631.2_Silent_p.R182R|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	182	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.R182R(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TACAAGGGTTCCTACTGTTAG	0.572																																						uc001gli.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(544-546)AGG>AGA		leucine zipper transcription regulator 2							39.0	42.0	41.0					1																	177933402		1984	4158	6142	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177933402C>T	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.546G>A	1.37:g.177933402C>T						SEC16B_uc001glk.1_5'UTR|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001glj.1_Silent_p.R182R|SEC16B_uc001gll.3_Silent_p.R182R	p.R182R	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			5	636	-			182			Required for endoplasmic reticulum localization.		A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.546G>A	CCDS44281.1																																																																																				PASS	0.572	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		27	38	27	38	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181726098	181726098	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:181726098C>T	ENST00000367573.2	+	30	4165	c.4165C>T	c.(4165-4167)Cga>Tga	p.R1389*	CACNA1E_ENST00000526775.1_Nonsense_Mutation_p.R1370*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.R996*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.R1340*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.R1389*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.R1370*|CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.R1321*	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1389					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R1389*(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGAGGAAGACCGAGGCCCAAG	0.478																																						uc001gow.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(4165-4167)CGA>TGA		calcium channel, voltage-dependent, R type,							149.0	158.0	155.0					1																	181726098		1960	4163	6123	SO:0001587	stop_gained	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181726098C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4165C>T	1.37:g.181726098C>T	ENSP00000356545:p.Arg1389*					CACNA1E_uc009wxs.2_Nonsense_Mutation_p.R1277*|CACNA1E_uc001gox.1_Nonsense_Mutation_p.R615*|CACNA1E_uc009wxt.2_Nonsense_Mutation_p.R615*	p.R1389*	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			30	4330	+			1389			Extracellular (Potential).|III.		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Nonsense_Mutation	SNP	ENST00000367573.2	37	c.4165C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	46	12.259060	0.99651	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	.	.	.	5.75	4.82	0.62117	.	0.113152	0.56097	D	0.000035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.2147	0.59851	0.2987:0.7013:0.0:0.0	.	.	.	.	X	1389;1370;1340;1321;996;1370;1389	.	ENSP00000350183:R1340X	R	+	1	2	CACNA1E	179992721	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.926000	0.56491	1.372000	0.46190	0.655000	0.94253	CGA		PASS	0.478	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		8	222	8	222	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181767480	181767480	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:181767480C>A	ENST00000367573.2	+	48	6452	c.6452C>A	c.(6451-6453)aCc>aAc	p.T2151N	CACNA1E_ENST00000526775.1_Missense_Mutation_p.T2089N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.T1715N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.T2102N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.T2108N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.T2132N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.T2040N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2151					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.T2108N(1)|p.T2151N(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GACACCAGCACCCCAAGAAGA	0.592																																						uc001gow.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(6322-6324)ACC>AAC		calcium channel, voltage-dependent, R type,							117.0	127.0	124.0					1																	181767480		2028	4170	6198	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181767480C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6452C>A	1.37:g.181767480C>A	ENSP00000356545:p.Thr2151Asn					CACNA1E_uc009wxs.2_Missense_Mutation_p.T1996N|CACNA1E_uc009wxt.2_Missense_Mutation_p.T1377N	p.T2108N	NM_000721	NP_000712	Q15878	CAC1E_HUMAN			47	6488	+			2151			Cytoplasmic (Potential).		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.6323C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817661	0.90790	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.99674	-6.12;-6.08;-5.18;-6.07;-6.36;-5.17;-5.18	5.55	5.55	0.83447	.	0.250795	0.41823	D	0.000808	D	0.99616	0.9860	M	0.67700	2.07	0.80722	D	1	D;D	0.76494	0.991;0.999	P;D	0.80764	0.852;0.994	D	0.98319	1.0527	10	0.66056	D	0.02	.	19.1878	0.93651	0.0:1.0:0.0:0.0	.	2089;2108	Q15878-2;Q15878-3	.;.	N	2108;2089;2102;2040;1715;2132;2151	ENSP00000356542:T2108N;ENSP00000434814:T2089N;ENSP00000350183:T2102N;ENSP00000351101:T2040N;ENSP00000356539:T1715N;ENSP00000353222:T2132N;ENSP00000356545:T2151N	ENSP00000350183:T2102N	T	+	2	0	CACNA1E	180034103	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.145000	0.77365	2.618000	0.88619	0.558000	0.71614	ACC		PASS	0.592	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		104	121	104	121	---	---	---	---
SWT1	54823	broad.mit.edu	37	1	185144061	185144061	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:185144061A>T	ENST00000367500.4	+	5	947	c.782A>T	c.(781-783)aAg>aTg	p.K261M	SWT1_ENST00000367501.3_Missense_Mutation_p.K261M	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	261								p.K261M(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AATAATTCGAAGACTAAGCAG	0.353																																						uc001grg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(781-783)AAG>ATG		hypothetical protein LOC54823							62.0	68.0	66.0					1																	185144061		2203	4300	6503	SO:0001583	missense	54823							g.chr1:185144061A>T	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.782A>T	1.37:g.185144061A>T	ENSP00000356470:p.Lys261Met					C1orf26_uc001grh.3_Missense_Mutation_p.K261M	p.K261M	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN			5	896	+			261					Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	ENST00000367500.4	37	c.782A>T	CCDS1367.1	.	.	.	.	.	.	.	.	.	.	A	16.27	3.076194	0.55646	.	.	ENSG00000116668	ENST00000367501;ENST00000367500	T;T	0.22134	1.97;1.97	5.76	3.19	0.36642	.	0.698547	0.13403	N	0.390491	T	0.33030	0.0849	M	0.69823	2.125	0.09310	N	1	D	0.69078	0.997	P	0.55667	0.781	T	0.21895	-1.0232	10	0.66056	D	0.02	.	3.7701	0.08637	0.699:0.0:0.1245:0.1765	.	261	Q5T5J6	SWT1_HUMAN	M	261	ENSP00000356471:K261M;ENSP00000356470:K261M	ENSP00000356470:K261M	K	+	2	0	SWT1	183410684	0.329000	0.24696	0.005000	0.12908	0.031000	0.12232	2.025000	0.41059	0.331000	0.23511	0.528000	0.53228	AAG		PASS	0.353	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673		110	108	110	108	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197070783	197070783	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:197070783G>A	ENST00000367409.4	-	18	7854	c.7598C>T	c.(7597-7599)tCt>tTt	p.S2533F	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2533	IQ 27. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.S2533F(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AACCACAGCAGAATGCCATTG	0.343																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(7597-7599)TCT>TTT		asp (abnormal spindle)-like, microcephaly							87.0	86.0	86.0					1																	197070783		2202	4298	6500	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197070783G>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7598C>T	1.37:g.197070783G>A	ENSP00000356379:p.Ser2533Phe					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.S381F	p.S2533F	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	7855	-			2533			IQ 27.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.7598C>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	g	16.39	3.109400	0.56398	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.73897	-0.79	4.27	4.27	0.50696	.	0.324914	0.26832	N	0.022275	D	0.89266	0.6666	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.83275	0.961;0.996	D	0.92283	0.5835	10	0.87932	D	0	.	15.2473	0.73513	0.0:0.0:1.0:0.0	.	519;2533	E7EQ84;Q8IZT6	.;ASPM_HUMAN	F	2533;519	ENSP00000356379:S2533F	ENSP00000356376:S519F	S	-	2	0	ASPM	195337406	0.998000	0.40836	0.974000	0.42286	0.677000	0.39632	5.700000	0.68318	2.071000	0.62044	0.552000	0.68991	TCT		PASS	0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		56	202	56	202	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197072005	197072005	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:197072005T>A	ENST00000367409.4	-	18	6632	c.6376A>T	c.(6376-6378)Atg>Ttg	p.M2126L	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2126	IQ 17. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.M2126L(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTTAAACATGGCTTTAATA	0.323																																						uc001gtu.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(6376-6378)ATG>TTG		asp (abnormal spindle)-like, microcephaly							146.0	147.0	147.0					1																	197072005		2203	4300	6503	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072005T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6376A>T	1.37:g.197072005T>A	ENSP00000356379:p.Met2126Leu					ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.M2126L	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6633	-			2126			IQ 17.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.6376A>T	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	t	8.865	0.947929	0.18356	.	.	ENSG00000066279	ENST00000367409	T	0.70399	-0.48	5.8	-10.9	0.00192	.	0.766780	0.12495	N	0.463826	T	0.49064	0.1535	L	0.59436	1.845	0.09310	N	1	B	0.23854	0.092	B	0.20184	0.028	T	0.33548	-0.9864	10	0.11485	T	0.65	.	3.8304	0.08871	0.1599:0.3646:0.0811:0.3944	.	2126	Q8IZT6	ASPM_HUMAN	L	2126	ENSP00000356379:M2126L	ENSP00000356379:M2126L	M	-	1	0	ASPM	195338628	0.000000	0.05858	0.197000	0.23402	0.973000	0.67179	-1.559000	0.02162	-2.113000	0.00833	-0.304000	0.09214	ATG		PASS	0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		57	244	57	244	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198704280	198704280	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:198704280T>A	ENST00000367376.2	+	23	2467	c.2296T>A	c.(2296-2298)Tca>Aca	p.S766T	PTPRC_ENST00000442510.2_Missense_Mutation_p.S768T|PTPRC_ENST00000348564.6_Missense_Mutation_p.S607T|PTPRC_ENST00000352140.3_Missense_Mutation_p.S718T|PTPRC_ENST00000594404.1_Missense_Mutation_p.S605T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	766	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S766T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ATACTGGCCGTCAATGGAAGA	0.313																																						uc001gur.1																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2296-2298)TCA>ACA		protein tyrosine phosphatase, receptor type, C							77.0	74.0	75.0					1																	198704280		2203	4299	6502	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198704280T>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2296T>A	1.37:g.198704280T>A	ENSP00000356346:p.Ser766Thr					PTPRC_uc001gus.1_Missense_Mutation_p.S718T|PTPRC_uc001gut.1_Missense_Mutation_p.S605T|PTPRC_uc010ppg.1_Missense_Mutation_p.S702T	p.S766T	NM_002838	NP_002829	P08575	PTPRC_HUMAN			23	2476	+			766			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2296T>A		.	.	.	.	.	.	.	.	.	.	T	5.576	0.291066	0.10567	.	.	ENSG00000081237	ENST00000367376;ENST00000367366;ENST00000352140;ENST00000535566;ENST00000442510;ENST00000367367;ENST00000348564	D	0.83506	-1.73	5.1	2.31	0.28768	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.605522	0.13729	N	0.366860	T	0.69851	0.3157	N	0.12961	0.28	0.09310	N	0.999998	B;B;B;B	0.28713	0.13;0.09;0.09;0.22	B;B;B;B	0.33392	0.034;0.1;0.1;0.163	T	0.57516	-0.7798	10	0.25106	T	0.35	.	10.8088	0.46533	0.3054:0.0:0.0:0.6946	.	702;607;718;766	F5GXZ3;B1ALS3;E9PC28;P08575	.;.;.;PTPRC_HUMAN	T	768;702;718;718;766;700;605	ENSP00000193532:S718T	ENSP00000306782:S605T	S	+	1	0	PTPRC	196970903	0.097000	0.21791	0.003000	0.11579	0.042000	0.13812	1.114000	0.31196	0.841000	0.35020	0.533000	0.62120	TCA		PASS	0.313	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				28	67	28	67	---	---	---	---
CD34	947	broad.mit.edu	37	1	208084408	208084408	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:208084408G>A	ENST00000310833.7	-	1	339	c.18C>T	c.(16-18)ggC>ggT	p.G6G	CD34_ENST00000537704.1_5'UTR|CD34_ENST00000356522.4_Silent_p.G6G	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	6					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)	p.G6G(1)		kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGCGCGCGCGCCCCTGCGGA	0.721																																						uc001hgw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(16-18)GGC>GGT		CD34 antigen isoform a																																				SO:0001819	synonymous_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208084408G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.18C>T	1.37:g.208084408G>A						CD34_uc001hgx.1_Silent_p.G6G|CD34_uc010psj.1_5'UTR	p.G6G	NM_001025109	NP_001020280	P28906	CD34_HUMAN			1	276	-			6					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	ENST00000310833.7	37	c.18C>T	CCDS31011.1																																																																																				PASS	0.721	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		6	8	6	8	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211192446	211192446	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:211192446A>T	ENST00000271751.4	-	6	738	c.711T>A	c.(709-711)taT>taA	p.Y237*	KCNH1_ENST00000367007.4_Nonsense_Mutation_p.Y237*			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	237					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.Y237*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGGAGACATTATAAGGGACCA	0.413																																						uc001hib.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(709-711)TAT>TAA		potassium voltage-gated channel, subfamily H,							99.0	94.0	95.0					1																	211192446		2203	4300	6503	SO:0001587	stop_gained	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211192446A>T	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.711T>A	1.37:g.211192446A>T	ENSP00000271751:p.Tyr237*					KCNH1_uc001hic.2_Nonsense_Mutation_p.Y237*	p.Y237*	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	6	881	-			237			Helical; Name=Segment S1; (Potential).		B1AQ26|O76035|Q14CL3	Nonsense_Mutation	SNP	ENST00000271751.4	37	c.711T>A	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	A	38	6.817557	0.97861	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	.	.	.	5.09	3.18	0.36537	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.2878	0.26350	0.2742:0.0:0.7258:0.0	.	.	.	.	X	237	.	ENSP00000271751:Y237X	Y	-	3	2	KCNH1	209259069	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	1.883000	0.39658	1.113000	0.41760	-0.464000	0.05259	TAT		PASS	0.413	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		37	128	37	128	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211276913	211276913	+	Missense_Mutation	SNP	T	T	A	rs148218711		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:211276913T>A	ENST00000271751.4	-	3	262	c.235A>T	c.(235-237)Acg>Tcg	p.T79S	KCNH1_ENST00000367007.4_Missense_Mutation_p.T79S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	79	PAS. {ECO:0000255|PROSITE- ProRule:PRU00140}.				myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.T79S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TTTTCAATCGTGTCTTTATCA	0.338																																						uc001hib.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(235-237)ACG>TCG		potassium voltage-gated channel, subfamily H,							154.0	144.0	147.0					1																	211276913		2201	4298	6499	SO:0001583	missense	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211276913T>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.235A>T	1.37:g.211276913T>A	ENSP00000271751:p.Thr79Ser					KCNH1_uc001hic.2_Missense_Mutation_p.T79S	p.T79S	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	3	405	-			79			Cytoplasmic (Potential).|PAS.		B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	c.235A>T	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.037190	0.54896	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.99598	-6.26;-6.26	5.46	5.46	0.80206	PAS (3);PAS fold (1);	0.046640	0.85682	D	0.000000	D	0.98153	0.9390	L	0.31804	0.96	0.80722	D	1	B;B	0.24092	0.044;0.097	B;B	0.27887	0.052;0.084	D	0.99855	1.1076	10	0.26408	T	0.33	.	15.0263	0.71671	0.0:0.0:0.0:1.0	.	79;79	Q14CL3;O95259	.;KCNH1_HUMAN	S	79	ENSP00000271751:T79S;ENSP00000355974:T79S	ENSP00000271751:T79S	T	-	1	0	KCNH1	209343536	1.000000	0.71417	0.998000	0.56505	0.846000	0.48090	7.638000	0.83328	2.186000	0.69663	0.533000	0.62120	ACG		PASS	0.338	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		60	68	60	68	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214817978	214817978	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:214817978G>T	ENST00000366955.3	+	13	5233	c.5065G>T	c.(5065-5067)Gat>Tat	p.D1689Y		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1785					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.D1689Y(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACCAAAGCATGATGTTCATCA	0.388																																					Colon(80;575 1284 11000 14801 43496)	uc001hkm.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13						c.(5065-5067)GAT>TAT		centromere protein F							74.0	70.0	71.0					1																	214817978		2203	4300	6503	SO:0001583	missense	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214817978G>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5065G>T	1.37:g.214817978G>T	ENSP00000355922:p.Asp1689Tyr						p.D1689Y	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	5239	+			1785					Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	c.5065G>T	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.298521	0.60195	.	.	ENSG00000117724	ENST00000366955	T	0.03553	3.89	5.04	3.1	0.35709	.	0.183072	0.26578	N	0.023582	T	0.07863	0.0197	L	0.60455	1.87	0.09310	N	1	D	0.56521	0.976	P	0.53185	0.72	T	0.14504	-1.0470	10	0.72032	D	0.01	.	5.707	0.17913	0.3964:0.0:0.6035:0.0	.	1785	P49454	CENPF_HUMAN	Y	1689	ENSP00000355922:D1689Y	ENSP00000355922:D1689Y	D	+	1	0	CENPF	212884601	0.003000	0.15002	0.000000	0.03702	0.608000	0.37181	1.295000	0.33377	0.656000	0.30886	0.609000	0.83330	GAT		PASS	0.388	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		40	117	40	117	---	---	---	---
SNAP47	116841	broad.mit.edu	37	1	227954784	227954784	+	Splice_Site	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:227954784G>T	ENST00000366759.4	+	4	1662	c.1248G>T	c.(1246-1248)caG>caT	p.Q416H	SNAP47_ENST00000315781.5_Splice_Site_p.Q416H|SNAP47_ENST00000366760.1_Splice_Site_p.Q174H	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	416	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)		p.Q416H(1)		endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						AACTAACCCAGGTAAGATGTC	0.602																																						uc001hrf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1246-1248)CAG>CAT		synaptosomal-associated protein, 47kDa							82.0	65.0	71.0					1																	227954784		2203	4300	6503	SO:0001630	splice_region_variant	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227954784G>T	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1248+1G>T	1.37:g.227954784G>T						SNAP47_uc001hqz.2_Missense_Mutation_p.Q371H|SNAP47_uc001hra.2_Missense_Mutation_p.Q174H|SNAP47_uc001hrd.2_Missense_Mutation_p.Q416H|SNAP47_uc001hre.2_Missense_Mutation_p.Q174H	p.Q416H	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN			4	1662	+			416			t-SNARE coiled-coil homology 2.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.1248G>T	CCDS1562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.555170|3.555170	0.65425|0.65425	.|.	.|.	ENSG00000143740|ENSG00000143740	ENST00000418653;ENST00000426344|ENST00000366760;ENST00000366759;ENST00000315781	.|T;T;T	.|0.55052	.|0.54;2.02;1.53	4.82|4.82	4.82|4.82	0.62117|0.62117	.|Target SNARE coiled-coil domain (1);	.|0.060629	.|0.64402	.|D	.|0.000002	T|T	0.69967|0.69967	0.3170|0.3170	M|M	0.80616|0.80616	2.505|2.505	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D	.|0.55385	.|0.971;0.971;0.971;0.971	.|P;P;P;P	.|0.60473	.|0.875;0.875;0.875;0.875	T|T	0.74621|0.74621	-0.3604|-0.3604	5|10	.|0.87932	.|D	.|0	-2.2087|-2.2087	13.3333|13.3333	0.60503|0.60503	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|416;228;416;174	.|Q5SQN1;Q5TBZ4;Q5SQN1-2;Q5SQN1-4	.|SNP47_HUMAN;.;.;.	W|H	229;408|174;416;416	.|ENSP00000355722:Q174H;ENSP00000355721:Q416H;ENSP00000314157:Q416H	.|ENSP00000314157:Q416H	G|Q	+|+	1|3	0|2	SNAP47|SNAP47	226021407|226021407	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.444000|0.444000	0.32077|0.32077	4.441000|4.441000	0.59981|0.59981	2.529000|2.529000	0.85273|0.85273	0.549000|0.549000	0.68633|0.68633	GGG|CAG		PASS	0.602	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052	Missense_Mutation	13	50	13	50	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228431117	228431117	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:228431117G>A	ENST00000422127.1	+	10	3207	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E1147K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1055K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1055	Ig-like 10.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E1055K(4)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTACAGCTGCGAGGCCAGGGG	0.552																																						uc009xez.1																			4	Substitution - Missense(4)		lung(4)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3163-3165)GAG>AAG		obscurin, cytoskeletal calmodulin and							38.0	41.0	40.0					1																	228431117		2055	4189	6244	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228431117G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3163G>A	1.37:g.228431117G>A	ENSP00000409493:p.Glu1055Lys					OBSCN_uc001hsn.2_Missense_Mutation_p.E1055K	p.E1055K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			10	3207	+		Prostate(94;0.0405)	1055			Ig-like 10.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3163G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249905	0.22880	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.65364	-0.15;-0.15	5.11	3.25	0.37280	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.097704	0.39544	U	0.001328	T	0.69061	0.3069	M	0.65498	2.005	0.80722	D	1	D;D	0.76494	0.999;0.994	P;P	0.61132	0.884;0.845	T	0.66184	-0.5987	10	0.10111	T	0.7	.	11.665	0.51368	0.1451:0.0:0.8549:0.0	.	1055;1055	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1055	ENSP00000284548:E1055K;ENSP00000409493:E1055K	ENSP00000284548:E1055K	E	+	1	0	OBSCN	226497740	1.000000	0.71417	0.786000	0.31890	0.054000	0.15201	4.385000	0.59613	0.565000	0.29255	-0.374000	0.07098	GAG		PASS	0.552	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		29	25	29	25	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232600813	232600813	+	Missense_Mutation	SNP	C	C	A	rs553774818	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:232600813C>A	ENST00000366630.1	-	8	2951	c.2593G>T	c.(2593-2595)Ggc>Tgc	p.G865C	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.G865C			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	865					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.G865C(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCAGACTGGCCGAAGTCCCGG	0.478																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(2593-2595)GGC>TGC		signal-induced proliferation-associated 1 like							101.0	100.0	100.0					1																	232600813		1960	4142	6102	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232600813C>A	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2593G>T	1.37:g.232600813C>A	ENSP00000355589:p.Gly865Cys					SIPA1L2_uc001hvf.2_5'Flank	p.G865C	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			7	2751	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	865					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.2593G>T	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473831	0.43942	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.43294	0.95;0.95	6.06	5.15	0.70609	.	0.051024	0.85682	D	0.000000	T	0.35393	0.0930	L	0.31065	0.9	0.58432	D	0.999993	B	0.22541	0.071	B	0.25884	0.064	T	0.12993	-1.0526	10	0.54805	T	0.06	-28.6429	15.4723	0.75449	0.0:0.9338:0.0:0.0662	.	865	Q9P2F8	SI1L2_HUMAN	C	865	ENSP00000355589:G865C;ENSP00000262861:G865C	ENSP00000262861:G865C	G	-	1	0	SIPA1L2	230667436	0.942000	0.31987	1.000000	0.80357	0.950000	0.60333	2.019000	0.41001	1.572000	0.49736	0.650000	0.86243	GGC		PASS	0.478	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		64	63	64	63	---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235331886	235331886	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:235331886G>C	ENST00000264183.3	-	24	4390	c.3893C>G	c.(3892-3894)tCa>tGa	p.S1298*	ARID4B_ENST00000366603.2_Nonsense_Mutation_p.S1298*|ARID4B-IT1_ENST00000357671.6_RNA|ARID4B_ENST00000349213.3_Nonsense_Mutation_p.S1212*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1298	Ser-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S1298*(1)		NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTGGACATTGACGGTTCAGC	0.463																																						uc001hwq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(3892-3894)TCA>TGA		AT rich interactive domain 4B isoform 1							124.0	98.0	107.0					1																	235331886		2203	4300	6503	SO:0001587	stop_gained	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235331886G>C	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3893C>G	1.37:g.235331886G>C	ENSP00000264183:p.Ser1298*					ARID4B_uc001hwr.2_Nonsense_Mutation_p.S1212*|ARID4B_uc001hwp.2_RNA	p.S1298*	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		24	4391	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	1298			Ser-rich.		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Nonsense_Mutation	SNP	ENST00000264183.3	37	c.3893C>G	CCDS31061.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258242	0.80246	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	.	.	.	4.96	4.96	0.65561	.	0.212646	0.42172	D	0.000757	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-2.735	18.4402	0.90664	0.0:0.0:1.0:0.0	.	.	.	.	X	1212;1298;1298	.	ENSP00000264183:S1298X	S	-	2	0	ARID4B	233398509	1.000000	0.71417	0.620000	0.29132	0.989000	0.77384	8.372000	0.90127	2.579000	0.87056	0.557000	0.71058	TCA		PASS	0.463	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374		50	64	50	64	---	---	---	---
LYST	1130	broad.mit.edu	37	1	235973326	235973326	+	Missense_Mutation	SNP	T	T	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:235973326T>G	ENST00000389794.3	-	5	966	c.792A>C	c.(790-792)ttA>ttC	p.L264F	LYST_ENST00000389793.2_Missense_Mutation_p.L264F|LYST_ENST00000536965.1_Missense_Mutation_p.L264F			Q99698	LYST_HUMAN	lysosomal trafficking regulator	264					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.L264F(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)			CTTTTTCTAATAAAGATAACA	0.388																																						uc001hxj.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|breast(4)|central_nervous_system(2)	12						c.(790-792)TTA>TTC		lysosomal trafficking regulator							39.0	42.0	41.0					1																	235973326		2203	4299	6502	SO:0001583	missense	1130	Chediak-Higashi_syndrome			defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235973326T>G	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.792A>C	1.37:g.235973326T>G	ENSP00000374444:p.Leu264Phe					LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.L264F	p.L264F	NM_000081	NP_000072	Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		5	967	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	264					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.792A>C	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	15.52	2.858570	0.51376	.	.	ENSG00000143669	ENST00000389794;ENST00000389793;ENST00000536965	T;T;T	0.69175	-0.38;-0.38;0.36	5.63	2.07	0.26955	.	0.076755	0.52532	D	0.000069	T	0.74390	0.3710	M	0.64997	1.995	0.47778	D	0.999514	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.72381	-0.4311	10	0.87932	D	0	.	5.8473	0.18673	0.0:0.3406:0.1364:0.523	.	264;264	Q99698-3;Q99698	.;LYST_HUMAN	F	264	ENSP00000374444:L264F;ENSP00000374443:L264F;ENSP00000438315:L264F	ENSP00000374443:L264F	L	-	3	2	LYST	234039949	0.017000	0.18338	0.998000	0.56505	0.996000	0.88848	-0.009000	0.12765	0.503000	0.28060	0.533000	0.62120	TTA		PASS	0.388	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			60	56	60	56	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237617769	237617769	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:237617769G>T	ENST00000366574.2	+	15	1688	c.1371G>T	c.(1369-1371)caG>caT	p.Q457H	RYR2_ENST00000542537.1_Missense_Mutation_p.Q441H|RYR2_ENST00000360064.6_Missense_Mutation_p.Q455H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	457					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.Q455H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TAAGTCTGCAGGATCTCATTG	0.463																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(1369-1371)CAG>CAT		cardiac muscle ryanodine receptor							84.0	82.0	83.0					1																	237617769		1917	4125	6042	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237617769G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1371G>T	1.37:g.237617769G>T	ENSP00000355533:p.Gln457His						p.Q457H	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		15	1491	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	457			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.1371G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257785	0.22965	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95622	-3.76;-3.76;-3.76	5.8	3.61	0.41365	Intracellular calcium-release channel (1);	0.000000	0.64402	U	0.000014	D	0.93259	0.7852	M	0.61703	1.905	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.91444	0.5176	10	0.66056	D	0.02	.	11.2065	0.48773	0.2663:0.0:0.7337:0.0	.	457	Q92736	RYR2_HUMAN	H	457;455;441	ENSP00000355533:Q457H;ENSP00000353174:Q455H;ENSP00000443798:Q441H	ENSP00000353174:Q455H	Q	+	3	2	RYR2	235684392	1.000000	0.71417	1.000000	0.80357	0.021000	0.10359	2.323000	0.43823	1.460000	0.47911	0.551000	0.68910	CAG		PASS	0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		53	63	53	63	---	---	---	---
MAP1LC3C	440738	broad.mit.edu	37	1	242161836	242161836	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:242161836G>T	ENST00000357246.3	-	3	265	c.201C>A	c.(199-201)acC>acA	p.T67T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	67					autophagy (GO:0006914)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|microtubule (GO:0005874)|organelle membrane (GO:0031090)		p.T67T(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGAGGAACTGGGTCATGGTCA	0.622											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hzk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(199-201)ACC>ACA		microtubule-associated protein 1 light chain 3							66.0	66.0	66.0					1																	242161836		2203	4300	6503	SO:0001819	synonymous_variant	440738				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	g.chr1:242161836G>T	AF276659	CCDS31074.1	1q43	2014-02-12			ENSG00000197769	ENSG00000197769			13353	protein-coding gene	gene with protein product		609605				12740394	Standard	NM_001004343		Approved	ATG8J	uc001hzk.2	Q9BXW4	OTTHUMG00000039865	ENST00000357246.3:c.201C>A	1.37:g.242161836G>T			OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2432		p.T67T	NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		3	276	-			67					A0PJY8|A2RUP0	Silent	SNP	ENST00000357246.3	37	c.201C>A	CCDS31074.1																																																																																				PASS	0.622	MAP1LC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096185.1	NM_001004343		85	75	85	75	---	---	---	---
ZNF695	57116	broad.mit.edu	37	1	247150705	247150705	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:247150705C>A	ENST00000339986.7	-	4	1259	c.1112G>T	c.(1111-1113)aGg>aTg	p.R371M	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	371					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R371M(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATGAATTCTCCTATGTTCAGT	0.393																																						uc009xgu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1111-1113)AGG>ATG		zinc finger protein SBZF3							46.0	51.0	49.0					1																	247150705		2151	4268	6419	SO:0001583	missense	57116				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr1:247150705C>A		CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.1112G>T	1.37:g.247150705C>A	ENSP00000341236:p.Arg371Met					ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron	p.R371M	NM_020394	NP_065127	Q8IW36	ZN695_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		4	1257	-	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	371			C2H2-type 8.		Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Missense_Mutation	SNP	ENST00000339986.7	37	c.1112G>T	CCDS44344.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431321	0.43122	.	.	ENSG00000197472	ENST00000339986	T	0.04406	3.63	0.642	-0.526	0.11913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01800	0.0057	N	0.01473	-0.845	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.44498	-0.9324	9	0.87932	D	0	.	3.9084	0.09193	0.0:0.4335:0.0:0.5665	.	371	Q8IW36	ZN695_HUMAN	M	371	ENSP00000341236:R371M	ENSP00000341236:R371M	R	-	2	0	ZNF695	245217328	0.000000	0.05858	0.001000	0.08648	0.890000	0.51754	-0.324000	0.07986	-0.215000	0.10063	0.205000	0.17691	AGG		PASS	0.393	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097823.5	NM_020394		7	68	7	68	---	---	---	---
NLRP3	114548	broad.mit.edu	37	1	247587425	247587425	+	Missense_Mutation	SNP	C	C	A	rs180177493		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:247587425C>A	ENST00000336119.3	+	3	1426	c.680C>A	c.(679-681)gCg>gAg	p.A227E	NLRP3_ENST00000391828.3_Missense_Mutation_p.A227E|NLRP3_ENST00000366497.2_Missense_Mutation_p.A227E|NLRP3_ENST00000348069.2_Missense_Mutation_p.A227E|NLRP3_ENST00000366496.2_Missense_Mutation_p.A227E|NLRP3_ENST00000391827.2_Missense_Mutation_p.A227E|NLRP3_ENST00000474792.1_3'UTR	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	227	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.A227E(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TTCCAGGGGGCGGCAGGGATT	0.537																																						uc001icr.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	GRCh37	CM082975	NLRP3	M	rs180177493	c.(679-681)GCG>GAG		NLR family, pyrin domain containing 3 isoform a							71.0	65.0	67.0					1																	247587425		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247587425C>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.680C>A	1.37:g.247587425C>A	ENSP00000337383:p.Ala227Glu					NLRP3_uc001ics.2_Missense_Mutation_p.A227E|NLRP3_uc001icu.2_Missense_Mutation_p.A227E|NLRP3_uc001icw.2_Missense_Mutation_p.A227E|NLRP3_uc001icv.2_Missense_Mutation_p.A227E|NLRP3_uc010pyw.1_Missense_Mutation_p.A225E|NLRP3_uc001ict.1_Missense_Mutation_p.A225E	p.A227E	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	818	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	227			ATP (Potential).|NACHT.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.680C>A	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	11.98	1.799765	0.31869	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	4.27	4.27	0.50696	NACHT nucleoside triphosphatase (1);	0.404883	0.21396	N	0.075237	T	0.79644	0.4481	N	0.25647	0.755	0.18873	N	0.999986	P;P;D;P;P	0.61080	0.832;0.799;0.989;0.783;0.65	P;P;D;P;P	0.63113	0.629;0.495;0.911;0.565;0.642	T	0.67612	-0.5626	10	0.18276	T	0.48	.	12.5127	0.56015	0.0:1.0:0.0:0.0	.	227;227;227;227;227	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	E	227	ENSP00000375704:A227E;ENSP00000355453:A227E;ENSP00000337383:A227E;ENSP00000294752:A227E;ENSP00000355452:A227E;ENSP00000375703:A227E	ENSP00000337383:A227E	A	+	2	0	NLRP3	245654048	0.905000	0.30787	0.033000	0.17914	0.010000	0.07245	2.331000	0.43894	2.669000	0.90835	0.655000	0.94253	GCG		PASS	0.537	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	NM_004895		56	49	56	49	---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875890	247875890	+	Silent	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:247875890A>G	ENST00000302084.2	-	1	215	c.168T>C	c.(166-168)caT>caC	p.H56H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H56H(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACATGGGGGTATGCAACTGAT	0.483																																						uc001idj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)CAT>CAC		olfactory receptor, family 6, subfamily F,							122.0	118.0	119.0					1																	247875890		2203	4300	6503	SO:0001819	synonymous_variant	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875890A>G	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.168T>C	1.37:g.247875890A>G							p.H56H	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	168	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		56			Helical; Name=2; (Potential).		B2RNV6|Q6IF02|Q96R39	Silent	SNP	ENST00000302084.2	37	c.168T>C	CCDS31095.1																																																																																				PASS	0.483	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286		104	102	104	102	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247921036	247921036	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:247921036C>G	ENST00000408896.2	-	1	946	c.673G>C	c.(673-675)Gtt>Ctt	p.V225L		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	225					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V225L(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATCTTCAGAACAGTGGAGAAG	0.498																																						uc010pza.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(673-675)GTT>CTT		olfactory receptor, family 1, subfamily C,							52.0	52.0	52.0					1																	247921036		2013	4196	6209	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921036C>G	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.673G>C	1.37:g.247921036C>G	ENSP00000386138:p.Val225Leu						p.V225L	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	673	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	225			Cytoplasmic (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.673G>C	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980151	0.34942	.	.	ENSG00000221888	ENST00000408896	T	0.00291	8.27	3.22	0.902	0.19290	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00384	0.0012	M	0.76002	2.32	0.09310	N	1	P	0.46656	0.882	P	0.53102	0.718	T	0.45086	-0.9285	9	0.49607	T	0.09	.	5.7228	0.17996	0.0:0.4164:0.0:0.5836	.	225	Q15619	OR1C1_HUMAN	L	225	ENSP00000386138:V225L	ENSP00000386138:V225L	V	-	1	0	OR1C1	245987659	0.000000	0.05858	0.497000	0.27552	0.727000	0.41649	-1.100000	0.03339	0.441000	0.26529	-0.469000	0.05056	GTT		PASS	0.498	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			36	39	36	39	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248524899	248524899	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:248524899G>A	ENST00000366475.1	+	1	17	c.17G>A	c.(16-18)tGg>tAg	p.W6*		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W6*(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACATCACCTGGATGGCCAGC	0.473																																						uc001ieh.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(16-18)TGG>TAG		olfactory receptor, family 2, subfamily T,							73.0	70.0	71.0					1																	248524899		2203	4300	6503	SO:0001587	stop_gained	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248524899G>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.17G>A	1.37:g.248524899G>A	ENSP00000355431:p.Trp6*						p.W6*	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	17	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		6			Extracellular (Potential).		Q6IEZ8	Nonsense_Mutation	SNP	ENST00000366475.1	37	c.17G>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	G	15.71	2.915364	0.52546	.	.	ENSG00000196944	ENST00000366475	.	.	.	1.77	1.77	0.24775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.2226	0.37386	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000355431:W6X	W	+	2	0	OR2T4	246591522	0.000000	0.05858	0.009000	0.14445	0.112000	0.19704	-0.264000	0.08658	1.283000	0.44513	0.416000	0.27883	TGG		PASS	0.473	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		28	87	28	87	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685150	248685150	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr1:248685150G>T	ENST00000343414.4	+	1	235	c.203G>T	c.(202-204)tGt>tTt	p.C68F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C68F(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACCTCTCGTGTGTGGACATC	0.507																																						uc001ien.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(202-204)TGT>TTT		olfactory receptor, family 2, subfamily G,							126.0	108.0	114.0					1																	248685150		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685150G>T		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.203G>T	1.37:g.248685150G>T	ENSP00000341291:p.Cys68Phe						p.C68F	NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	203	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	68			Helical; Name=2; (Potential).		B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.203G>T	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	-	0.009	-1.839417	0.00573	.	.	ENSG00000188558	ENST00000343414	T	0.00360	7.86	3.68	0.0717	0.14383	GPCR, rhodopsin-like superfamily (1);	0.317457	0.22226	N	0.062890	T	0.00039	0.0001	N	0.00028	-2.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44081	-0.9351	10	0.02654	T	1	.	11.3116	0.49366	0.0:0.0:0.4574:0.5426	.	68	Q5TZ20	OR2G6_HUMAN	F	68	ENSP00000341291:C68F	ENSP00000341291:C68F	C	+	2	0	OR2G6	246751773	0.354000	0.24912	0.593000	0.28771	0.795000	0.44927	4.386000	0.59620	0.198000	0.20407	0.400000	0.26472	TGT		PASS	0.507	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		95	75	95	75	---	---	---	---
ALLC	55821	broad.mit.edu	37	2	3730597	3730597	+	Silent	SNP	C	C	A	rs374055311		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:3730597C>A	ENST00000252505.3	+	7	606	c.444C>A	c.(442-444)tcC>tcA	p.S148S		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	167					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.S148S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACCCTGCTTCCGGCCACAACT	0.433										HNSCC(21;0.051)																												uc010ewt.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(442-444)TCC>TCA		allantoicase isoform a							171.0	175.0	174.0					2																	3730597		1944	4145	6089	SO:0001819	synonymous_variant	55821						allantoicase activity	g.chr2:3730597C>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.444C>A	2.37:g.3730597C>A		HNSCC(21;0.051)					p.S148S	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	7	605	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	167					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP	ENST00000252505.3	37	c.444C>A	CCDS46223.1																																																																																				PASS	0.433	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			101	107	101	107	---	---	---	---
TRIB2	28951	broad.mit.edu	37	2	12863631	12863631	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:12863631G>T	ENST00000405331.3	+	2	586	c.516G>T	c.(514-516)gtG>gtT	p.V172V	TRIB2_ENST00000155926.4_Silent_p.V172V|TRIB2_ENST00000381465.2_Silent_p.V36V					tribbles pseudokinase 2									p.V172V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GGGGGCTGGTGCTGCGGGACC	0.577																																						uc002rbv.3																			1	Substitution - coding silent(1)		lung(1)	stomach(1)	1						c.(514-516)GTG>GTT		tribbles homolog 2							52.0	56.0	55.0					2																	12863631		2203	4300	6503	SO:0001819	synonymous_variant	28951				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr2:12863631G>T	AY245544	CCDS1683.1	2p25.1	2013-10-03	2013-10-03		ENSG00000071575	ENSG00000071575			30809	protein-coding gene	gene with protein product		609462	"""tribbles homolog 2 (Drosophila)"""			12736262, 17097562, 16715410	Standard	NM_021643		Approved	TRB2, GS3955	uc002rbv.4	Q92519	OTTHUMG00000090575	ENST00000405331.3:c.516G>T	2.37:g.12863631G>T						TRIB2_uc010yjp.1_Silent_p.V36V	p.V172V	NM_021643	NP_067675	Q92519	TRIB2_HUMAN			2	1952	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		172			Protein kinase.			Silent	SNP	ENST00000405331.3	37	c.516G>T																																																																																					PASS	0.577	TRIB2-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000323585.1	NM_021643		55	73	55	73	---	---	---	---
APOB	338	broad.mit.edu	37	2	21256232	21256232	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:21256232G>A	ENST00000233242.1	-	9	1190	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	APOB_ENST00000399256.4_Silent_p.L355L	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	355	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.L355L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCCTCTCAGCTCAGTAACC	0.428																																						uc002red.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(1063-1065)CTG>TTG		apolipoprotein B precursor	Atorvastatin(DB01076)						122.0	115.0	117.0					2																	21256232		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21256232G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1063C>T	2.37:g.21256232G>A							p.L355L	NM_000384	NP_000375	P04114	APOB_HUMAN			9	1191	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		355			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.1063C>T	CCDS1703.1																																																																																				PASS	0.428	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			63	67	63	67	---	---	---	---
ATAD2B	54454	broad.mit.edu	37	2	24046409	24046409	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:24046409C>T	ENST00000238789.5	-	16	2193	c.1850G>A	c.(1849-1851)tGc>tAc	p.C617Y	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	617						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)	p.C617Y(1)		central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTTCAGTGCACAGGGCCTT	0.463																																						uc002rek.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1849-1851)TGC>TAC		ATPase family, AAA domain containing 2B							73.0	71.0	72.0					2																	24046409		1970	4148	6118	SO:0001583	missense	54454						ATP binding|nucleoside-triphosphatase activity	g.chr2:24046409C>T	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1850G>A	2.37:g.24046409C>T	ENSP00000238789:p.Cys617Tyr					ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'UTR	p.C617Y	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN			16	2144	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		617					B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	ENST00000238789.5	37	c.1850G>A	CCDS46227.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754726	0.89843	.	.	ENSG00000119778	ENST00000238789;ENST00000458510	D;D	0.95001	-3.58;-2.43	5.07	5.07	0.68467	.	.	.	.	.	D	0.98216	0.9410	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99433	1.0936	9	0.87932	D	0	.	18.8285	0.92128	0.0:1.0:0.0:0.0	.	617	Q9ULI0	ATD2B_HUMAN	Y	617;55	ENSP00000238789:C617Y;ENSP00000392764:C55Y	ENSP00000238789:C617Y	C	-	2	0	ATAD2B	23899913	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.757000	0.85209	2.521000	0.84997	0.655000	0.94253	TGC		PASS	0.463	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324333.1	NM_017552		13	74	13	74	---	---	---	---
TCF23	150921	broad.mit.edu	37	2	27373020	27373020	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:27373020G>T	ENST00000296096.5	+	2	382	c.252G>T	c.(250-252)cgG>cgT	p.R84R		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	84	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)		p.R84R(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGCCGCGCGGGAGCGGAGCC	0.657																																						uc010ylg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(250-252)CGG>CGT		transcription factor 23							41.0	46.0	44.0					2																	27373020		2203	4300	6503	SO:0001819	synonymous_variant	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373020G>T	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.252G>T	2.37:g.27373020G>T							p.R84R	NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN			2	252	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		84			Basic motif (By similarity).		B2RNZ3	Silent	SNP	ENST00000296096.5	37	c.252G>T	CCDS33163.1																																																																																				PASS	0.657	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		40	60	40	60	---	---	---	---
CAD	790	broad.mit.edu	37	2	27460931	27460931	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:27460931A>T	ENST00000403525.1	+	29	4691	c.4547A>T	c.(4546-4548)gAg>gTg	p.E1516V	CAD_ENST00000264705.4_Missense_Mutation_p.E1579V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E1579V(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCATTTCGAGACATGGCCC	0.572																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(4735-4737)GAG>GTG		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						110.0	104.0	106.0					2																	27460931		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27460931A>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4547A>T	2.37:g.27460931A>T	ENSP00000384510:p.Glu1516Val					CAD_uc010eyw.2_Missense_Mutation_p.E1516V	p.E1579V	NM_004341	NP_004332	P27708	PYR1_HUMAN			30	4898	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1579			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.4736A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.01|15.01	2.707104|2.707104	0.48412|0.48412	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	D;D|.	0.98633|.	-5.04;-4.99|.	4.73|4.73	4.73|4.73	0.59995|0.59995	Amidohydrolase 1 (1);|.	0.052581|.	0.85682|.	D|.	0.000000|.	T|.	0.73976|.	0.3656|.	M|M	0.77616|0.77616	2.38|2.38	0.80722|0.80722	D|D	1|1	B;D|.	0.63046|.	0.202;0.992|.	B;P|.	0.62740|.	0.205;0.906|.	T|.	0.75648|.	-0.3245|.	10|.	0.37606|.	T|.	0.19|.	-0.0157|-0.0157	13.0684|13.0684	0.59046|0.59046	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1516;1579|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	V|X	1579;1516|231	ENSP00000264705:E1579V;ENSP00000384510:E1516V|.	ENSP00000264705:E1579V|.	E|R	+|+	2|1	0|2	CAD|CAD	27314435|27314435	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.460000|0.460000	0.32559|0.32559	8.750000|8.750000	0.91623|0.91623	1.761000|1.761000	0.52028|0.52028	0.418000|0.418000	0.28097|0.28097	GAG|AGA		PASS	0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			38	38	38	38	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27801261	27801261	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:27801261C>A	ENST00000408964.2	+	1	1873	c.1822C>A	c.(1822-1824)Cca>Aca	p.P608T		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	608						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.P608T(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)					GGAGTTAGCACCAGGACCAAT	0.413																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1822-1824)CCA>ACA		hypothetical protein LOC84226							60.0	56.0	57.0					2																	27801261		1855	4097	5952	SO:0001583	missense	84226							g.chr2:27801261C>A	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.1822C>A	2.37:g.27801261C>A	ENSP00000386190:p.Pro608Thr						p.P608T	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1873	+	Acute lymphoblastic leukemia(172;0.155)		608					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1822C>A	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943098	0.53079	.	.	ENSG00000221843	ENST00000408964	T	0.05855	3.38	4.74	1.71	0.24356	.	.	.	.	.	T	0.06371	0.0164	L	0.29908	0.895	0.21064	N	0.999797	P	0.46142	0.873	P	0.45681	0.49	T	0.33624	-0.9861	9	0.52906	T	0.07	.	5.6067	0.17383	0.3439:0.5616:0.0:0.0945	.	608	Q68DN1	CB016_HUMAN	T	608	ENSP00000386190:P608T	ENSP00000386190:P608T	P	+	1	0	C2orf16	27654765	0.362000	0.24980	0.523000	0.27875	0.971000	0.66376	0.869000	0.27996	0.237000	0.21200	0.561000	0.74099	CCA		PASS	0.413	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		7	48	7	48	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	32961770	32961770	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:32961770G>A	ENST00000317907.4	+	12	1570	c.1339G>A	c.(1339-1341)Gca>Aca	p.A447T		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	447								p.A447T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GCGCCAACTTGCAAGTTTGCT	0.378																																						uc002rom.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1339-1341)GCA>ACA		tetratricopeptide repeat domain 27							93.0	93.0	93.0					2																	32961770		2203	4300	6503	SO:0001583	missense	55622						protein binding	g.chr2:32961770G>A	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1339G>A	2.37:g.32961770G>A	ENSP00000313953:p.Ala447Thr					TTC27_uc010ymx.1_Missense_Mutation_p.A397T|TTC27_uc002ron.2_RNA	p.A447T	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN			12	1570	+			447			TPR 1.		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	c.1339G>A	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115046	0.94339	.	.	ENSG00000018699	ENST00000317907	T	0.34472	1.36	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73962	-0.3817	10	0.87932	D	0	-14.3775	18.6126	0.91291	0.0:0.0:1.0:0.0	.	447	Q6P3X3	TTC27_HUMAN	T	447	ENSP00000313953:A447T	ENSP00000313953:A447T	A	+	1	0	TTC27	32815274	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.158000	0.89649	2.683000	0.91414	0.655000	0.94253	GCA		PASS	0.378	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		47	61	47	61	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37247018	37247018	+	Silent	SNP	C	C	A	rs141463798		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:37247018C>A	ENST00000233099.5	-	26	4133	c.4038G>T	c.(4036-4038)gtG>gtT	p.V1346V	HEATR5B_ENST00000354531.2_Silent_p.V1346V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1346						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.V1346V(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAGCAGCTCCCACCTAGAAAA	0.398																																						uc002rpp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(4036-4038)GTG>GTT		HEAT repeat containing 5B							68.0	72.0	71.0					2																	37247018		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37247018C>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.4038G>T	2.37:g.37247018C>A							p.V1346V	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			26	4134	-		all_hematologic(82;0.21)	1346					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.4038G>T	CCDS33181.1																																																																																				PASS	0.398	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		32	39	32	39	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	51255264	51255264	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:51255264A>T	ENST00000406316.2	-	2	1624	c.148T>A	c.(148-150)Tgc>Agc	p.C50S	NRXN1_ENST00000402717.3_Missense_Mutation_p.C50S|NRXN1_ENST00000406859.3_Missense_Mutation_p.C50S|NRXN1_ENST00000401669.2_Missense_Mutation_p.C50S|NRXN1_ENST00000405581.1_Missense_Mutation_p.C50S|NRXN1_ENST00000405472.3_Missense_Mutation_p.C50S|NRXN1_ENST00000404971.1_Missense_Mutation_p.C50S	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	50	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.C50S(3)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCGCTCTCGCAGCAGGCGTTC	0.667																																						uc010fbq.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(148-150)TGC>AGC		neurexin 1 isoform alpha2 precursor							9.0	12.0	11.0					2																	51255264		1982	4135	6117	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:51255264A>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.148T>A	2.37:g.51255264A>T	ENSP00000384311:p.Cys50Ser					NRXN1_uc002rxe.3_Missense_Mutation_p.C50S|NRXN1_uc002rxd.1_Missense_Mutation_p.C50S	p.C50S	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		2	1625	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.148T>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	A	11.31	1.601427	0.28534	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859;ENST00000405581	T;T;T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07;-1.07;-1.07	4.97	4.97	0.65823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.000000	0.28724	U	0.014342	T	0.68174	0.2972	L	0.41415	1.275	0.42043	D	0.991082	B;B;B	0.18461	0.003;0.028;0.022	B;B;B	0.21917	0.018;0.037;0.001	T	0.62704	-0.6798	10	0.08381	T	0.77	.	14.6578	0.68847	1.0:0.0:0.0:0.0	.	50;50;50	Q9ULB1-3;F8WB18;Q9ULB1	.;.;NRX1A_HUMAN	S	50	ENSP00000385142:C50S;ENSP00000384311:C50S;ENSP00000434015:C50S;ENSP00000385017:C50S;ENSP00000385434:C50S;ENSP00000385681:C50S;ENSP00000385310:C50S	ENSP00000385017:C50S	C	-	1	0	NRXN1	51108768	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.194000	0.94962	1.860000	0.53959	0.460000	0.39030	TGC		PASS	0.667	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			5	7	5	7	---	---	---	---
CCDC85A	114800	broad.mit.edu	37	2	56599485	56599485	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:56599485C>A	ENST00000407595.2	+	4	1826	c.1324C>A	c.(1324-1326)Cag>Aag	p.Q442K	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	442								p.Q442K(1)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAAGGCCAGCCAGAATAGAAG	0.468																																						uc002rzn.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)	5						c.(1324-1326)CAG>AAG		coiled-coil domain containing 85A							24.0	26.0	25.0					2																	56599485		1871	4097	5968	SO:0001583	missense	114800							g.chr2:56599485C>A	AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.1324C>A	2.37:g.56599485C>A	ENSP00000384040:p.Gln442Lys						p.Q442K	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	1826	+			442			Potential.			Missense_Mutation	SNP	ENST00000407595.2	37	c.1324C>A	CCDS46290.1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.360782	0.41801	.	.	ENSG00000055813	ENST00000407595;ENST00000407862	.	.	.	5.84	5.84	0.93424	.	1.286870	0.05282	N	0.519566	T	0.46600	0.1401	N	0.08118	0	0.33126	D	0.542503	P	0.40332	0.713	P	0.54815	0.761	T	0.20706	-1.0267	9	0.06099	T	0.92	-31.5219	15.6337	0.76933	0.0:1.0:0.0:0.0	.	442	Q96PX6	CC85A_HUMAN	K	442;31	.	ENSP00000384040:Q442K	Q	+	1	0	CCDC85A	56452989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.549000	0.53681	2.767000	0.95098	0.591000	0.81541	CAG		PASS	0.468	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324993.1			5	4	5	4	---	---	---	---
LOXL3	84695	broad.mit.edu	37	2	74761091	74761091	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:74761091T>A	ENST00000264094.3	-	13	2177	c.2106A>T	c.(2104-2106)gcA>gcT	p.A702A	LOXL3_ENST00000409986.1_Silent_p.A557A|LOXL3_ENST00000393937.2_Silent_p.A557A|LOXL3_ENST00000409249.1_Silent_p.A420A|LOXL3_ENST00000409549.1_Silent_p.A646A	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	702	Lysyl-oxidase like.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.A702A(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						AGTCACTCTCTGCTACTTCAA	0.438																																						uc002smp.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(2104-2106)GCA>GCT		lysyl oxidase-like 3 precursor							239.0	214.0	222.0					2																	74761091		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74761091T>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.2106A>T	2.37:g.74761091T>A						LOXL3_uc002smo.1_Silent_p.A341A|LOXL3_uc010ffm.1_Silent_p.A646A|LOXL3_uc002smq.1_Silent_p.A557A|LOXL3_uc010ffn.1_Silent_p.A557A	p.A702A	NM_032603	NP_115992	P58215	LOXL3_HUMAN			13	2178	-			702			Lysyl-oxidase like.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.2106A>T	CCDS1953.1																																																																																				PASS	0.438	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1	NM_032603		29	125	29	125	---	---	---	---
MRPL19	9801	broad.mit.edu	37	2	75874310	75874310	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:75874310C>T	ENST00000393909.2	+	2	211	c.186C>T	c.(184-186)atC>atT	p.I62I	MRPL19_ENST00000358788.6_Silent_p.I62I|MRPL19_ENST00000409374.1_Silent_p.I62I	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	62					translation (GO:0006412)	mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)	p.I62I(1)		kidney(1)|large_intestine(1)|lung(6)	8						AACCGGTCATCGTGGACAAGC	0.721																																						uc002snl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(184-186)ATC>ATT		mitochondrial ribosomal protein L19 precursor							13.0	18.0	16.0					2																	75874310		1910	4113	6023	SO:0001819	synonymous_variant	9801				translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome	g.chr2:75874310C>T	AB051621	CCDS1960.2	2p11.1-q11.2	2012-09-13			ENSG00000115364	ENSG00000115364		"""Mitochondrial ribosomal proteins / large subunits"""	14052	protein-coding gene	gene with protein product	"""39S ribosomal protein L19"""	611832				11543634, 17309879	Standard	XM_006712155		Approved	MRP-L15, RPML15, KIAA0104, RLX1	uc002snl.3	P49406	OTTHUMG00000129990	ENST00000393909.2:c.186C>T	2.37:g.75874310C>T						MRPL19_uc002snm.1_Silent_p.I62I	p.I62I	NM_014763	NP_055578	P49406	RM19_HUMAN			2	211	+			62					Q53TX9|Q96Q52	Silent	SNP	ENST00000393909.2	37	c.186C>T	CCDS1960.2																																																																																				PASS	0.721	MRPL19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252256.1	NM_014763		6	5	6	5	---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781414	96781414	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:96781414G>A	ENST00000409345.3	-	1	570	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	159					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)	p.R159C(2)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	GGGCGCCCGCGCGGCTGGGGG	0.632																																						uc002svi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(475-477)CGC>TGC		alpha-2B-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						26.0	33.0	31.0					2																	96781414		2078	4199	6277	SO:0001583	missense	151				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	g.chr2:96781414G>A	M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.475C>T	2.37:g.96781414G>A	ENSP00000387281:p.Arg159Cys						p.R159C	NM_000682	NP_000673	P18089	ADA2B_HUMAN			1	475	-			159			Extracellular (By similarity).		Q4TUH9|Q53RF2|Q9BZK0	Missense_Mutation	SNP	ENST00000409345.3	37	c.475C>T	CCDS56129.1	.	.	.	.	.	.	.	.	.	.	G	12.54	1.969212	0.34754	.	.	ENSG00000222040	ENST00000409345	T	0.73047	-0.71	4.65	3.73	0.42828	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.77384	0.4122	M	0.78916	2.43	0.09310	N	0.999999	D	0.60160	0.987	P	0.52386	0.697	T	0.68591	-0.5368	9	0.59425	D	0.04	.	10.5722	0.45206	0.0:0.3094:0.6906:0.0	.	159	P18089	ADA2B_HUMAN	C	159	ENSP00000387281:R159C	ENSP00000387281:R159C	R	-	1	0	ADRA2B	96145141	0.006000	0.16342	0.875000	0.34327	0.941000	0.58515	1.901000	0.39838	2.420000	0.82092	0.456000	0.33151	CGC		PASS	0.632	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			26	37	26	37	---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100170906	100170906	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:100170906C>A	ENST00000409236.2	-	22	3538	c.3426G>T	c.(3424-3426)ctG>ctT	p.L1142L	AFF3_ENST00000356421.2_Silent_p.L1167L|AFF3_ENST00000317233.4_Silent_p.L1142L|AFF3_ENST00000409579.1_Silent_p.L1167L			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	1142					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.L1167L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCGACGGGGACAGGGCGCTGG	0.652																																						uc002tag.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(3424-3426)CTG>CTT		AF4/FMR2 family, member 3 isoform 1							85.0	76.0	79.0					2																	100170906		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100170906C>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.3426G>T	2.37:g.100170906C>A						AFF3_uc002taf.2_Silent_p.L1167L	p.L1142L	NM_002285	NP_002276	P51826	AFF3_HUMAN			23	3662	-			1142					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.3426G>T	CCDS42723.1																																																																																				PASS	0.652	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		71	38	71	38	---	---	---	---
CNOT11	55571	broad.mit.edu	37	2	101881431	101881431	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:101881431G>T	ENST00000289382.3	+	4	1120	c.957G>T	c.(955-957)aaG>aaT	p.K319N		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	319					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)		p.K319N(1)									TGTGTGTTAAGAATAGCACTG	0.483																																						uc002taw.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(955-957)AAG>AAT		hypothetical protein LOC55571							136.0	122.0	127.0					2																	101881431		2203	4300	6503	SO:0001583	missense	55571				cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol		g.chr2:101881431G>T	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.957G>T	2.37:g.101881431G>T	ENSP00000289382:p.Lys319Asn						p.K319N	NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN			4	1039	+			319					Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	37	c.957G>T	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198748	0.38806	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.97	4.99	0.66335	.	0.050353	0.85682	D	0.000000	T	0.22742	0.0549	N	0.08118	0	0.58432	D	0.999993	P	0.35174	0.488	B	0.29862	0.108	T	0.09662	-1.0664	9	0.16896	T	0.51	-28.2159	10.2165	0.43170	0.1648:0.0:0.8352:0.0	.	319	Q9UKZ1	CB029_HUMAN	N	319	.	ENSP00000289382:K319N	K	+	3	2	C2orf29	101247863	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	4.035000	0.57297	2.837000	0.97791	0.655000	0.94253	AAG		PASS	0.483	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		4	127	4	127	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112604762	112604762	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:112604762C>T	ENST00000341068.3	-	16	2577	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	602					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.G602D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AACCATGGAGCCATTACTCAG	0.348																																						uc002thi.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1804-1806)GGC>GAC		anaphase promoting complex subunit 1							71.0	67.0	68.0					2																	112604762		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112604762C>T	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1805G>A	2.37:g.112604762C>T	ENSP00000339109:p.Gly602Asp						p.G602D	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			16	2052	-			602					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1805G>A	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.08|18.08	3.544834|3.544834	0.65198|0.65198	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	0.000000|.	0.41396|.	U|.	0.000885|.	T|.	0.69860|.	0.3158|.	M|M	0.66297|0.66297	2.02|2.02	0.53005|0.53005	D|D	0.999966|0.999966	D|.	0.55800|.	0.973|.	P|.	0.48795|.	0.59|.	T|.	0.69514|.	-0.5125|.	9|.	0.49607|.	T|.	0.09|.	-14.4068|-14.4068	12.2809|12.2809	0.54762|0.54762	0.0:0.9139:0.0:0.086|0.0:0.9139:0.0:0.086	.|.	602|.	Q9H1A4|.	APC1_HUMAN|.	D|X	602|136	.|.	ENSP00000339109:G602D|.	G|W	-|-	2|3	0|0	ANAPC1|ANAPC1	112321233|112321233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.942000|0.942000	0.58702|0.58702	5.091000|5.091000	0.64505|0.64505	2.250000|2.250000	0.74265|0.74265	0.460000|0.460000	0.39030|0.39030	GGC|TGG		PASS	0.348	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		59	26	59	26	---	---	---	---
IL1B	3553	broad.mit.edu	37	2	113591131	113591131	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:113591131G>T	ENST00000263341.2	-	4	331	c.121C>A	c.(121-123)Ctc>Atc	p.L41I	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	41					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)	p.L41I(1)		breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	AGAGGGCAGAGGTCCAGGTCC	0.597																																						uc002tii.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(1)	4						c.(121-123)CTC>ATC		interleukin 1, beta proprotein	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						73.0	71.0	71.0					2																	113591131		2203	4300	6503	SO:0001583	missense	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113591131G>T	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.121C>A	2.37:g.113591131G>T	ENSP00000263341:p.Leu41Ile					IL1B_uc002tih.1_Missense_Mutation_p.L10I	p.L41I	NM_000576	NP_000567	P01584	IL1B_HUMAN			4	208	-			41					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Missense_Mutation	SNP	ENST00000263341.2	37	c.121C>A	CCDS2102.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597117	0.46318	.	.	ENSG00000125538	ENST00000263341;ENST00000418817;ENST00000432018;ENST00000416750	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.52	2.68	0.31781	Interleukin-1 propeptide (1);	0.902759	0.09450	N	0.800549	T	0.64886	0.2639	M	0.85945	2.785	0.09310	N	1	D	0.63880	0.993	P	0.58928	0.848	T	0.49390	-0.8945	10	0.42905	T	0.14	-9.2113	7.2903	0.26362	0.2057:0.0:0.7943:0.0	.	41	P01584	IL1B_HUMAN	I	41	ENSP00000263341:L41I;ENSP00000407219:L41I;ENSP00000409680:L41I;ENSP00000400854:L41I	ENSP00000263341:L41I	L	-	1	0	IL1B	113307602	0.007000	0.16637	0.002000	0.10522	0.049000	0.14656	0.657000	0.24963	0.628000	0.30357	0.555000	0.69702	CTC		PASS	0.597	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		43	108	43	108	---	---	---	---
SCTR	6344	broad.mit.edu	37	2	120194773	120194773	+	IGR	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:120194773G>T	ENST00000019103.5	-	0	1865				TMEM37_ENST00000409826.1_Missense_Mutation_p.M122I|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Missense_Mutation_p.M110I	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.M110I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGTTCCTCATGGTGTCCCAGT	0.652																																						uc002tly.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(328-330)ATG>ATT		transmembrane protein 37							114.0	108.0	110.0					2																	120194773		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194773G>T		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194773G>T							p.M110I	NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN			2	364	+			110			Helical; (Potential).		Q12961|Q13213|Q53T00	Missense_Mutation	SNP	ENST00000019103.5	37	c.330G>T	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515494	0.27123	.	.	ENSG00000171227	ENST00000409826;ENST00000306406	.	.	.	4.74	0.857	0.19025	.	0.163679	0.52532	N	0.000067	T	0.22322	0.0538	N	0.25890	0.77	0.25638	N	0.986232	B	0.09022	0.002	B	0.11329	0.006	T	0.11891	-1.0569	9	0.22109	T	0.4	-21.3179	3.5437	0.07820	0.1521:0.1328:0.5779:0.1372	.	110	Q8WXS4	CCGL_HUMAN	I	122;110	.	ENSP00000303148:M110I	M	+	3	0	TMEM37	119911243	1.000000	0.71417	0.998000	0.56505	0.879000	0.50718	1.291000	0.33330	-0.017000	0.14103	-0.258000	0.10820	ATG		PASS	0.652	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2			144	60	144	60	---	---	---	---
MYO7B	4648	broad.mit.edu	37	2	128324316	128324316	+	Silent	SNP	C	C	T	rs370063306		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:128324316C>T	ENST00000409816.2	+	4	416	c.384C>T	c.(382-384)ggC>ggT	p.G128G	MYO7B_ENST00000389524.4_Silent_p.G128G|MYO7B_ENST00000428314.1_Silent_p.G128G			Q6PIF6	MYO7B_HUMAN	myosin VIIB	128	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.G128G(2)		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)		GCCATATGGGCGAGCTGCCCC	0.587																																						uc002top.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(382-384)GGC>GGT		myosin VIIB		C		0,4104		0,0,2052	39.0	44.0	42.0		384	-9.0	0.5	2		42	1,8401		0,1,4200	no	coding-synonymous	MYO7B	NM_001080527.1		0,1,6252	TT,TC,CC		0.0119,0.0,0.0080		128/2117	128324316	1,12505	2052	4201	6253	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128324316C>T		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.384C>T	2.37:g.128324316C>T							p.G128G	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	5	437	+	Colorectal(110;0.1)		128			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.384C>T	CCDS46405.1																																																																																				PASS	0.587	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		27	14	27	14	---	---	---	---
SAP130	79595	broad.mit.edu	37	2	128775365	128775365	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:128775365C>A	ENST00000259235.3	-	3	444	c.315G>T	c.(313-315)caG>caT	p.Q105H	SAP130_ENST00000357702.5_Missense_Mutation_p.Q105H|SAP130_ENST00000259234.6_Missense_Mutation_p.Q79H	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	105					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.Q105H(2)		NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCGACAACATCTGCACCTGTG	0.587																																						uc002tpp.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(313-315)CAG>CAT		Sin3A-associated protein, 130kDa isoform b							151.0	127.0	135.0					2																	128775365		2203	4300	6503	SO:0001583	missense	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128775365C>A	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.315G>T	2.37:g.128775365C>A	ENSP00000259235:p.Gln105His					SAP130_uc002tpo.2_5'Flank|SAP130_uc010fmd.2_Missense_Mutation_p.Q105H|SAP130_uc002tpq.1_Missense_Mutation_p.Q79H	p.Q105H	NM_024545	NP_078821	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	3	447	-	Colorectal(110;0.1)		105					B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Missense_Mutation	SNP	ENST00000259235.3	37	c.315G>T	CCDS2153.1	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898588	0.72639	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234;ENST00000424298;ENST00000450957	.	.	.	5.79	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.64405	0.2595	L	0.34521	1.04	0.80722	D	1	D;D;D	0.71674	0.998;0.994;0.998	D;D;D	0.80764	0.994;0.991;0.994	T	0.60717	-0.7208	9	0.35671	T	0.21	-13.7856	13.5711	0.61847	0.0:0.9265:0.0:0.0735	.	105;79;105	B7ZLM3;Q96DP1;Q9H0E3	.;.;SP130_HUMAN	H	105;105;79;79;79	.	ENSP00000259234:Q79H	Q	-	3	2	SAP130	128491835	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	3.320000	0.51991	2.726000	0.93360	0.585000	0.79938	CAG		PASS	0.587	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545		130	48	130	48	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141202228	141202228	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:141202228C>A	ENST00000389484.3	-	64	11049	c.10078G>T	c.(10078-10080)Ggc>Tgc	p.G3360C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3360	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G3360C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGAAATCGGCCTGGCTGACAT	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(10078-10080)GGC>TGC		low density lipoprotein-related protein 1B							84.0	79.0	81.0					2																	141202228		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141202228C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.10078G>T	2.37:g.141202228C>A	ENSP00000374135:p.Gly3360Cys	TSP Lung(27;0.18)					p.G3360C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	64	11050	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3360			Extracellular (Potential).|LDL-receptor class A 22.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.10078G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	31	5.096952	0.94197	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95756	-3.8	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98874	1.0767	10	0.87932	D	0	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	3360	Q9NZR2	LRP1B_HUMAN	C	3360;3298	ENSP00000374135:G3360C	ENSP00000374135:G3360C	G	-	1	0	LRP1B	140918698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.767000	0.95098	0.563000	0.77884	GGC		PASS	0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		73	32	73	32	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141986915	141986915	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:141986915T>A	ENST00000389484.3	-	6	1658	c.687A>T	c.(685-687)tcA>tcT	p.S229S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	229					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.S229S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCATTGACTGAGCTTAGAG	0.303										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - coding silent(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(685-687)TCA>TCT		low density lipoprotein-related protein 1B							49.0	51.0	51.0					2																	141986915		2202	4294	6496	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141986915T>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.687A>T	2.37:g.141986915T>A		TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.S229S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	6	1659	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	229			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.687A>T	CCDS2182.1																																																																																				PASS	0.303	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		39	36	39	36	---	---	---	---
KYNU	8942	broad.mit.edu	37	2	143787241	143787241	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:143787241G>A	ENST00000264170.4	+	11	1206	c.948G>A	c.(946-948)atG>atA	p.M316I	KYNU_ENST00000409512.1_Missense_Mutation_p.M316I	NM_003937.2	NP_003928.1			kynureninase									p.M316I(1)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)		GATTTAAGATGGATAACAGTA	0.313																																						uc002tvl.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(946-948)ATG>ATA		kynureninase (L-kynurenine hydrolase) isoform a	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)						87.0	91.0	90.0					2																	143787241		2203	4300	6503	SO:0001583	missense	8942				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	g.chr2:143787241G>A	U57721	CCDS2183.1, CCDS33299.1	2q22.2	2010-11-23	2010-11-23		ENSG00000115919	ENSG00000115919	3.7.1.3		6469	protein-coding gene	gene with protein product	"""L-kynurenine hydrolase"""	605197	"""kynureninase (L-kynurenine hydrolase)"""			8706755, 9180257	Standard	NM_001199241		Approved		uc002tvl.3	Q16719	OTTHUMG00000131829	ENST00000264170.4:c.948G>A	2.37:g.143787241G>A	ENSP00000264170:p.Met316Ile					KYNU_uc010fnm.2_Missense_Mutation_p.M316I	p.M316I	NM_003937	NP_003928	Q16719	KYNU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.072)	11	1078	+			316						Missense_Mutation	SNP	ENST00000264170.4	37	c.948G>A	CCDS2183.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245064	0.79912	.	.	ENSG00000115919	ENST00000264170;ENST00000409512	T;T	0.54866	0.55;0.55	5.53	5.53	0.82687	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.084369	0.85682	D	0.000000	T	0.77705	0.4170	H	0.95004	3.61	0.80722	D	1	P	0.45283	0.855	P	0.56434	0.798	D	0.83589	0.0122	10	0.87932	D	0	.	16.1814	0.81903	0.0:0.0:1.0:0.0	.	316	Q16719	KYNU_HUMAN	I	316	ENSP00000264170:M316I;ENSP00000386731:M316I	ENSP00000264170:M316I	M	+	3	0	KYNU	143503711	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.963000	0.70372	2.583000	0.87209	0.655000	0.94253	ATG		PASS	0.313	KYNU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254772.1	NM_001032998		40	88	40	88	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145157325	145157325	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:145157325C>A	ENST00000558170.2	-	8	2613	c.1429G>T	c.(1429-1431)Gac>Tac	p.D477Y	ZEB2_ENST00000539609.3_Missense_Mutation_p.D453Y|ZEB2_ENST00000409487.3_Missense_Mutation_p.D477Y|ZEB2_ENST00000303660.4_Missense_Mutation_p.D477Y	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	477	SMAD-MH2 binding domain. {ECO:0000250}.				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.D477Y(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)		GCCTTGCAGTCCATTTTTTGC	0.413																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(1429-1431)GAC>TAC		zinc finger homeobox 1b							94.0	96.0	96.0					2																	145157325		2203	4300	6503	SO:0001583	missense	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145157325C>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.1429G>T	2.37:g.145157325C>A	ENSP00000454157:p.Asp477Tyr					ZEB2_uc002tvv.2_Missense_Mutation_p.D471Y|ZEB2_uc010zbm.1_Missense_Mutation_p.D448Y|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.D506Y	p.D477Y	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	1909	-			477			SMAD-MH2 binding domain (By similarity).		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	c.1429G>T	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	14.63	2.593810	0.46214	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.74	4.86	0.63082	.	0.040524	0.85682	D	0.000000	D	0.85566	0.5726	L	0.38175	1.15	0.80722	D	1	D;B;D;D	0.89917	1.0;0.082;0.995;0.973	D;B;P;P	0.83275	0.996;0.122;0.75;0.886	D	0.87401	0.2369	10	0.87932	D	0	-15.0665	16.7483	0.85478	0.0:0.8707:0.1293:0.0	.	453;342;476;477	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	Y	453;477;477;477	ENSP00000443792:D453Y;ENSP00000302501:D477Y;ENSP00000386854:D477Y;ENSP00000395496:D477Y	ENSP00000302501:D477Y	D	-	1	0	ZEB2	144873795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	1.398000	0.46701	0.650000	0.86243	GAC		PASS	0.413	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		80	69	80	69	---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165997167	165997167	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:165997167G>T	ENST00000360093.3	-	13	2504	c.2013C>A	c.(2011-2013)ccC>ccA	p.P671P	SCN3A_ENST00000283254.7_Silent_p.P671P|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	671					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P671P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCACCTCTGGGGGAAGTTGTC	0.473																																						uc002ucx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2011-2013)CCC>CCA		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						101.0	94.0	97.0					2																	165997167		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165997167G>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2013C>A	2.37:g.165997167G>T						SCN3A_uc002ucy.2_Intron|SCN3A_uc002ucz.2_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	p.P671P	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			13	2505	-			671					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.2013C>A																																																																																					PASS	0.473	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		44	31	44	31	---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166740350	166740350	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:166740350T>A	ENST00000243344.7	-	26	3775	c.3638A>T	c.(3637-3639)tAt>tTt	p.Y1213F	TTC21B_ENST00000536175.1_Missense_Mutation_p.Y151F	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1213					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.Y1213F(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGCCATGTCATATTTTGCTGA	0.373																																						uc002udk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(3637-3639)TAT>TTT		tetratricopeptide repeat domain 21B							126.0	123.0	124.0					2																	166740350		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166740350T>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3638A>T	2.37:g.166740350T>A	ENSP00000243344:p.Tyr1213Phe					TTC21B_uc002udj.1_RNA	p.Y1213F	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			26	3771	-			1213			TPR 17.		A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3638A>T	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	T	11.64	1.700111	0.30142	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.39592	1.07;1.07	5.56	5.56	0.83823	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.055261	0.85682	D	0.000000	T	0.29882	0.0747	N	0.17674	0.51	0.58432	D	0.999999	B	0.27732	0.187	B	0.28638	0.092	T	0.09164	-1.0687	10	0.17832	T	0.49	-13.2588	15.9947	0.80232	0.0:0.0:0.0:1.0	.	1213	Q7Z4L5	TT21B_HUMAN	F	151;1213	ENSP00000438692:Y151F;ENSP00000243344:Y1213F	ENSP00000243344:Y1213F	Y	-	2	0	TTC21B	166448596	1.000000	0.71417	0.945000	0.38365	0.985000	0.73830	6.176000	0.71955	2.238000	0.73509	0.477000	0.44152	TAT		PASS	0.373	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		69	34	69	34	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167279930	167279930	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:167279930T>C	ENST00000409855.1	-	18	2992	c.2866A>G	c.(2866-2868)Ata>Gta	p.I956V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	956					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.I956V(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)	TCCATATATATATCTTCAAAA	0.284																																						uc002udu.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(2866-2868)ATA>GTA		sodium channel, voltage-gated, type VII, alpha							21.0	20.0	20.0					2																	167279930		1793	4077	5870	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167279930T>C	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.2866A>G	2.37:g.167279930T>C	ENSP00000386796:p.Ile956Val					SCN7A_uc010fpm.1_RNA	p.I956V	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			18	2993	-			956			Helical; Name=S1 of repeat III; (By similarity).			Missense_Mutation	SNP	ENST00000409855.1	37	c.2866A>G	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	10.61	1.398162	0.25205	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.97430	-4.38	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000005	D	0.95652	0.8586	N	0.21142	0.635	0.32468	N	0.543189	D	0.59357	0.985	D	0.67548	0.952	D	0.94182	0.7433	10	0.33141	T	0.24	.	7.0397	0.25013	0.0:0.1006:0.0:0.8994	.	956	Q01118	SCN7A_HUMAN	V	956	ENSP00000386796:I956V	ENSP00000259060:I956V	I	-	1	0	SCN7A	166988176	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.764000	0.47613	2.075000	0.62263	0.477000	0.44152	ATA		PASS	0.284	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			14	9	14	9	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168107333	168107333	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:168107333C>A	ENST00000409195.1	+	9	9520	c.9431C>A	c.(9430-9432)tCc>tAc	p.S3144Y	XIRP2_ENST00000295237.9_Missense_Mutation_p.S3144Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2922Y|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2969					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.S3144Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTTTCTCAGTCCCCTAAAAAG	0.468																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(9430-9432)TCC>TAC		xin actin-binding repeat containing 2 isoform 1							79.0	75.0	77.0					2																	168107333		1869	4090	5959	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168107333C>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9431C>A	2.37:g.168107333C>A	ENSP00000386840:p.Ser3144Tyr					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.S2969Y|XIRP2_uc010fpq.2_Missense_Mutation_p.S2922Y|XIRP2_uc010fpr.2_Intron	p.S3144Y	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	9449	+			2969					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.9431C>A	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	7.185	0.590283	0.13812	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.03004	4.08;4.08;4.08	5.88	2.15	0.27550	.	0.621379	0.17490	N	0.172369	T	0.06690	0.0171	L	0.57536	1.79	0.09310	N	1	P;P;P	0.38440	0.498;0.631;0.631	B;B;B	0.43701	0.246;0.428;0.428	T	0.17107	-1.0380	10	0.48119	T	0.1	1.5662	8.6838	0.34225	0.0:0.6303:0.0:0.3697	.	2969;2969;2922	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	3144;3144;2922;558	ENSP00000386840:S3144Y;ENSP00000295237:S3144Y;ENSP00000387255:S2922Y	ENSP00000295237:S3144Y	S	+	2	0	XIRP2	167815579	0.560000	0.26570	0.252000	0.24328	0.015000	0.08874	2.124000	0.42006	0.416000	0.25844	-0.259000	0.10710	TCC		PASS	0.468	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		101	55	101	55	---	---	---	---
NOSTRIN	115677	broad.mit.edu	37	2	169707637	169707637	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:169707637A>G	ENST00000317647.7	+	9	903	c.674A>G	c.(673-675)aAt>aGt	p.N225S	NOSTRIN_ENST00000444448.2_Missense_Mutation_p.N282S|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.N282S|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.N197S|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.N147S|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.N147S|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.N197S	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	225				N -> D (in Ref. 3; BAG52717). {ECO:0000305}.	endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)	p.N282S(1)|p.N225S(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CTTTTATGCAATAACTTAAAC	0.398																																						uc002ueg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(673-675)AAT>AGT		nitric oxide synthase trafficker isoform 2							145.0	129.0	134.0					2																	169707637		1893	4118	6011	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169707637A>G	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.674A>G	2.37:g.169707637A>G	ENSP00000318921:p.Asn225Ser					NOSTRIN_uc002uef.2_Missense_Mutation_p.N282S|NOSTRIN_uc002uei.2_Missense_Mutation_p.N108S|NOSTRIN_uc010fpu.2_Missense_Mutation_p.N197S|NOSTRIN_uc002ueh.2_Missense_Mutation_p.N147S|NOSTRIN_uc002uej.2_Missense_Mutation_p.N108S	p.N225S	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN			9	678	+			225					A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.674A>G	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	A	12.51	1.960512	0.34565	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711;ENST00000447264	T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.81	2.24	0.28232	.	0.368313	0.32218	N	0.006420	T	0.28896	0.0717	L	0.41824	1.3	0.80722	D	1	B;B;B;B	0.27882	0.049;0.192;0.013;0.12	B;B;B;B	0.23574	0.019;0.042;0.02;0.047	T	0.05037	-1.0910	10	0.28530	T	0.3	-13.9457	7.852	0.29459	0.7584:0.0:0.2416:0.0	.	197;119;225;282	Q8IVI9-2;D3DPB9;Q8IVI9;E7EPT9	.;.;NOSTN_HUMAN;.	S	282;282;225;147;147;197;197;147	ENSP00000402140:N282S;ENSP00000394051:N282S;ENSP00000318921:N225S;ENSP00000404413:N147S;ENSP00000380390:N147S;ENSP00000380392:N197S;ENSP00000401316:N197S;ENSP00000390383:N147S	ENSP00000318921:N225S	N	+	2	0	NOSTRIN	169415883	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	1.847000	0.39299	0.479000	0.27511	-0.256000	0.11100	AAT		PASS	0.398	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4	NM_052946		73	52	73	52	---	---	---	---
DFNB59	494513	broad.mit.edu	37	2	179325139	179325139	+	Silent	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:179325139G>C	ENST00000409117.3	+	6	1088	c.732G>C	c.(730-732)ctG>ctC	p.L244L	DFNB59_ENST00000375129.4_Silent_p.L244L	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	244					sensory perception of sound (GO:0007605)	neuronal cell body (GO:0043025)		p.L244L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CATTTGCACTGCTGTACAGGT	0.338																																						uc002umi.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)CTG>CTC		deafness, autosomal recessive 59							98.0	96.0	96.0					2																	179325139		1853	4086	5939	SO:0001819	synonymous_variant	494513				sensory perception of sound			g.chr2:179325139G>C	BC020859, BQ887979	CCDS42787.1	2q31.2	2011-07-01			ENSG00000204311	ENSG00000204311			29502	protein-coding gene	gene with protein product		610219				16804542	Standard	NM_001042702		Approved	pejvakin	uc002umi.4	Q0ZLH3	OTTHUMG00000154425	ENST00000409117.3:c.732G>C	2.37:g.179325139G>C						DFNB59_uc002umj.3_Silent_p.L244L	p.L244L	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		6	1088	+			244					A0PK14|B9EJE2	Silent	SNP	ENST00000409117.3	37	c.732G>C	CCDS42787.1																																																																																				PASS	0.338	DFNB59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335160.1			52	23	52	23	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179411946	179411946	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:179411946C>T	ENST00000591111.1	-	290	89607	c.89383G>A	c.(89383-89385)Ggt>Agt	p.G29795S	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G22563S|TTN_ENST00000589042.1_Missense_Mutation_p.G31436S|TTN_ENST00000342992.6_Missense_Mutation_p.G28868S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G22496S|TTN_ENST00000460472.2_Missense_Mutation_p.G22371S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29795	Fibronectin type-III 117. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G22496S(1)|p.G22371S(1)|p.G22563S(1)|p.G28868S(1)|p.G28866S(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)			TTACTGCCACCATCGTGGTAG	0.438																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(86602-86604)GGT>AGT		titin isoform N2-A							184.0	184.0	184.0					2																	179411946		1916	4121	6037	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179411946C>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.89383G>A	2.37:g.179411946C>T	ENSP00000465570:p.Gly29795Ser					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.G22563S|TTN_uc010zfi.1_Missense_Mutation_p.G22496S|TTN_uc010zfj.1_Missense_Mutation_p.G22371S	p.G28868S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		289	86826	-			29795					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.86602G>A		.	.	.	.	.	.	.	.	.	.	C	21.1	4.098154	0.76870	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	6.03	6.03	0.97812	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.81484	0.4832	M	0.93808	3.46	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	0.84967	0.0880	9	0.87932	D	0	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	22371;22496;22563;29795	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	28868;22371;22563;22496;22368	ENSP00000343764:G28868S;ENSP00000434586:G22371S;ENSP00000340554:G22563S;ENSP00000352154:G22496S	ENSP00000340554:G22563S	G	-	1	0	TTN	179120192	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.815000	0.86186	2.854000	0.98071	0.655000	0.94253	GGT		PASS	0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		105	76	105	76	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179413505	179413505	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:179413505G>T	ENST00000591111.1	-	289	88149	c.87925C>A	c.(87925-87927)Caa>Aaa	p.Q29309K	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q22077K|TTN_ENST00000589042.1_Missense_Mutation_p.Q30950K|TTN_ENST00000342992.6_Missense_Mutation_p.Q28382K|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q22010K|TTN_ENST00000460472.2_Missense_Mutation_p.Q21885K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29309	Ig-like 134.				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.Q22010K(1)|p.Q28380K(1)|p.Q22077K(1)|p.Q28382K(1)|p.Q21885K(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)			GGTCTACCTTGGTAGGCAATG	0.478																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85144-85146)CAA>AAA		titin isoform N2-A							121.0	117.0	118.0					2																	179413505		1955	4141	6096	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413505G>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.87925C>A	2.37:g.179413505G>T	ENSP00000465570:p.Gln29309Lys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Q22077K|TTN_uc010zfi.1_Missense_Mutation_p.Q22010K|TTN_uc010zfj.1_Missense_Mutation_p.Q21885K	p.Q28382K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85368	-			29309					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85144C>A		.	.	.	.	.	.	.	.	.	.	G	6.672	0.492632	0.12702	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18	4.98	1.96	0.26148	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.31358	0.0794	N	0.01535	-0.81	0.19300	N	0.999979	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.23833	-1.0177	9	0.87932	D	0	.	5.4853	0.16747	0.1656:0.0:0.3819:0.4525	.	21885;22010;22077;29309	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	28382;21885;22077;22010;21882	ENSP00000343764:Q28382K;ENSP00000434586:Q21885K;ENSP00000340554:Q22077K;ENSP00000352154:Q22010K	ENSP00000340554:Q22077K	Q	-	1	0	TTN	179121751	0.668000	0.27493	0.978000	0.43139	0.998000	0.95712	0.715000	0.25822	0.597000	0.29811	0.563000	0.77884	CAA		PASS	0.478	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		68	34	68	34	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179429564	179429564	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:179429564C>T	ENST00000591111.1	-	276	76596	c.76372G>A	c.(76372-76374)Gat>Aat	p.D25458N	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D18226N|TTN_ENST00000589042.1_Missense_Mutation_p.D27099N|TTN_ENST00000342992.6_Missense_Mutation_p.D24531N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D18159N|TTN_ENST00000460472.2_Missense_Mutation_p.D18034N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25458	Fibronectin type-III 85. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.D18226N(1)|p.D18034N(1)|p.D18159N(1)|p.D24531N(1)|p.D24529N(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)			GTGCCTCCATCATTCACTGGC	0.393																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(73591-73593)GAT>AAT		titin isoform N2-A							57.0	53.0	54.0					2																	179429564		1865	4111	5976	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429564C>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.76372G>A	2.37:g.179429564C>T	ENSP00000465570:p.Asp25458Asn					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D18226N|TTN_uc010zfi.1_Missense_Mutation_p.D18159N|TTN_uc010zfj.1_Missense_Mutation_p.D18034N	p.D24531N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	73815	-			25458					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.73591G>A		.	.	.	.	.	.	.	.	.	.	C	13.77	2.337431	0.41398	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.54549	0.1865	L	0.37850	1.14	0.58432	D	0.999996	B;B;B;B	0.28026	0.054;0.054;0.054;0.198	B;B;B;B	0.30316	0.069;0.069;0.069;0.114	T	0.53129	-0.8482	9	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	18034;18159;18226;25458	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	24531;18034;18226;18159;18032	ENSP00000343764:D24531N;ENSP00000434586:D18034N;ENSP00000340554:D18226N;ENSP00000352154:D18159N	ENSP00000340554:D18226N	D	-	1	0	TTN	179137810	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.914000	0.56401	2.857000	0.98124	0.650000	0.86243	GAT		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	39	18	39	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179442567	179442567	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:179442567C>G	ENST00000591111.1	-	273	63887	c.63663G>C	c.(63661-63663)tgG>tgC	p.W21221C	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W13989C|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W22862C|TTN_ENST00000342992.6_Missense_Mutation_p.W20294C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W13922C|TTN_ENST00000460472.2_Missense_Mutation_p.W13797C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21221	Fibronectin type-III 54. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.W20292C(1)|p.W13922C(1)|p.W13797C(1)|p.W13989C(1)|p.W20294C(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)			TAGGTTCAGTCCAAATGAGAG	0.373																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(60880-60882)TGG>TGC		titin isoform N2-A							85.0	76.0	79.0					2																	179442567		1879	4099	5978	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179442567C>G	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.63663G>C	2.37:g.179442567C>G	ENSP00000465570:p.Trp21221Cys					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.W13989C|TTN_uc010zfi.1_Missense_Mutation_p.W13922C|TTN_uc010zfj.1_Missense_Mutation_p.W13797C|uc002umv.1_5'Flank	p.W20294C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		272	61106	-			21221					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60882G>C		.	.	.	.	.	.	.	.	.	.	C	13.21	2.170193	0.38315	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.77	5.77	0.91146	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.96812	0.8959	H	0.99919	4.95	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.98496	1.0612	9	0.87932	D	0	.	19.9928	0.97374	0.0:1.0:0.0:0.0	.	13797;13922;13989;21221	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	20294;13797;13989;13922;13795	ENSP00000343764:W20294C;ENSP00000434586:W13797C;ENSP00000340554:W13989C;ENSP00000352154:W13922C	ENSP00000340554:W13989C	W	-	3	0	TTN	179150813	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.745000	0.94114	0.650000	0.86243	TGG		PASS	0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		48	32	48	32	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179466840	179466840	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:179466840G>T	ENST00000591111.1	-	234	50459	c.50235C>A	c.(50233-50235)gaC>gaA	p.D16745E	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9513E|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D18386E|TTN_ENST00000342992.6_Missense_Mutation_p.D15818E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9446E|TTN_ENST00000460472.2_Missense_Mutation_p.D9321E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16745	Ig-like 101.				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.D15818E(2)|p.D9446E(1)|p.D9513E(1)|p.D9321E(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)			AAACCAGACAGTCCTGTGCTC	0.393																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(47452-47454)GAC>GAA		titin isoform N2-A							109.0	104.0	106.0					2																	179466840		1885	4118	6003	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179466840G>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.50235C>A	2.37:g.179466840G>T	ENSP00000465570:p.Asp16745Glu					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D9513E|TTN_uc010zfi.1_Missense_Mutation_p.D9446E|TTN_uc010zfj.1_Missense_Mutation_p.D9321E	p.D15818E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		233	47678	-			16745					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.47454C>A		.	.	.	.	.	.	.	.	.	.	G	9.045	0.990635	0.18966	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.62498	0.02;0.26;0.24;0.23	5.96	0.0474	0.14280	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.46814	0.1412	N	0.17922	0.545	0.25433	N	0.988167	P;P;P;P	0.38129	0.619;0.619;0.619;0.619	B;B;B;B	0.37833	0.259;0.259;0.259;0.259	T	0.41270	-0.9518	9	0.87932	D	0	.	11.5824	0.50900	0.4296:0.0:0.5703:0.0	.	9321;9446;9513;16745	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	E	15818;9321;9513;9446;9321	ENSP00000343764:D15818E;ENSP00000434586:D9321E;ENSP00000340554:D9513E;ENSP00000352154:D9446E	ENSP00000340554:D9513E	D	-	3	2	TTN	179175085	0.970000	0.33590	0.237000	0.24090	0.943000	0.58893	0.471000	0.22100	0.143000	0.18926	-0.136000	0.14681	GAC		PASS	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		71	31	71	31	---	---	---	---
COQ10B	80219	broad.mit.edu	37	2	198327404	198327404	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:198327404G>T	ENST00000263960.2	+	3	534	c.396G>T	c.(394-396)gtG>gtT	p.V132V	COQ10B_ENST00000545340.1_Silent_p.V89V|COQ10B_ENST00000409010.1_Silent_p.V104V|COQ10B_ENST00000409398.1_Silent_p.V82V	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	132						mitochondrial inner membrane (GO:0005743)		p.V132V(1)		endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCCACCTGTGTTGGAGCGAT	0.308																																						uc002uuh.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(394-396)GTG>GTT		coenzyme Q10 homolog B precursor							142.0	145.0	144.0					2																	198327404		2203	4300	6503	SO:0001819	synonymous_variant	80219					mitochondrial inner membrane		g.chr2:198327404G>T	AK023510	CCDS2319.1	2q33.1	2008-02-05	2006-04-04		ENSG00000115520	ENSG00000115520			25819	protein-coding gene	gene with protein product			"""coenzyme Q10 homolog B (yeast)"""				Standard	NM_025147		Approved	FLJ13448	uc002uuh.1	Q9H8M1	OTTHUMG00000132745	ENST00000263960.2:c.396G>T	2.37:g.198327404G>T						COQ10B_uc010fsl.1_Silent_p.V104V	p.V132V	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		3	450	+			132					B7Z1Y4	Silent	SNP	ENST00000263960.2	37	c.396G>T	CCDS2319.1																																																																																				PASS	0.308	COQ10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256105.2	NM_025147		101	47	101	47	---	---	---	---
STRADB	55437	broad.mit.edu	37	2	202337718	202337718	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:202337718G>A	ENST00000194530.3	+	5	599	c.234G>A	c.(232-234)cgG>cgA	p.R78R	STRADB_ENST00000392249.2_Silent_p.R78R	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	78	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.R78R(2)		breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATCTTGCACGGCATACTCCCA	0.353																																						uc002uyd.3																			2	Substitution - coding silent(2)		lung(2)	skin(2)|stomach(1)|lung(1)	4						c.(232-234)CGG>CGA		STE20-related kinase adaptor beta							127.0	124.0	125.0					2																	202337718		2203	4300	6503	SO:0001819	synonymous_variant	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202337718G>A	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.234G>A	2.37:g.202337718G>A							p.R78R	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN			5	599	+			78			Protein kinase.		Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	c.234G>A	CCDS2348.1																																																																																				PASS	0.353	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		124	68	124	68	---	---	---	---
PARD3B	117583	broad.mit.edu	37	2	206023449	206023449	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:206023449G>A	ENST00000406610.2	+	11	1645	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R	PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000351153.1_Missense_Mutation_p.G480R|PARD3B_ENST00000462231.1_Missense_Mutation_p.G480R|PARD3B_ENST00000349953.3_Missense_Mutation_p.G480R	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	480					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)		p.G480R(1)		breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CTAACAGAAAGGAGAACCTGA	0.478																																						uc002var.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(1438-1440)GGA>AGA		par-3 partitioning defective 3 homolog B isoform							123.0	121.0	121.0					2																	206023449		1896	4127	6023	SO:0001583	missense	117583				cell cycle|cell division	endomembrane system|tight junction		g.chr2:206023449G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1438G>A	2.37:g.206023449G>A	ENSP00000385848:p.Gly480Arg					PARD3B_uc010fub.1_Missense_Mutation_p.G480R|PARD3B_uc002vao.1_Missense_Mutation_p.G480R|PARD3B_uc002vap.1_Intron|PARD3B_uc002vaq.1_Missense_Mutation_p.G480R	p.G480R	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN		Epithelial(149;0.0739)	11	1645	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	480					E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	37	c.1438G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.648459	0.87958	.	.	ENSG00000116117	ENST00000406610;ENST00000351153;ENST00000349953	T;T;T	0.11277	2.81;2.79;2.81	5.75	5.75	0.90469	PDZ/DHR/GLGF (2);	.	.	.	.	T	0.32734	0.0839	L	0.60455	1.87	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.805;0.999	D;D;P;D	0.91635	0.998;0.999;0.735;0.986	T	0.00373	-1.1781	9	0.54805	T	0.06	.	19.9405	0.97159	0.0:0.0:1.0:0.0	.	480;480;480;480	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-5	.;PAR3L_HUMAN;.;.	R	480	ENSP00000385848:G480R;ENSP00000317261:G480R;ENSP00000340280:G480R	ENSP00000340280:G480R	G	+	1	0	PARD3B	205731694	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	9.390000	0.97246	2.716000	0.92895	0.650000	0.86243	GGA		PASS	0.478	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	NM_057177		129	105	129	105	---	---	---	---
DYTN	391475	broad.mit.edu	37	2	207583001	207583001	+	Start_Codon_SNP	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:207583001C>T	ENST00000452335.2	-	1	119	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	1						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.M1I(2)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TATCTGGATCCATTTCACAAA	0.373																																						uc002vbr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1-3)ATG>ATA		dystrotelin							65.0	63.0	64.0					2																	207583001		1829	4097	5926	SO:0001582	initiator_codon_variant	391475					plasma membrane	zinc ion binding	g.chr2:207583001C>T	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.3G>A	2.37:g.207583001C>T	ENSP00000396593:p.Met1Ile						p.M1I	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	1	120	-			1						Missense_Mutation	SNP	ENST00000452335.2	37	c.3G>A	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441350	0.43326	.	.	ENSG00000232125	ENST00000452335	T	0.14391	2.51	4.33	4.33	0.51752	.	.	.	.	.	T	0.30727	0.0774	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.00376	-1.1779	8	0.31617	T	0.26	.	12.6321	0.56663	0.0:1.0:0.0:0.0	.	1	A2CJ06	DYTN_HUMAN	I	1	ENSP00000396593:M1I	ENSP00000396593:M1I	M	-	3	0	DYTN	207291246	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.737000	0.55060	2.699000	0.92147	0.655000	0.94253	ATG		PASS	0.373	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		Missense_Mutation	17	13	17	13	---	---	---	---
CXCR1	3577	broad.mit.edu	37	2	219029167	219029167	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:219029167C>A	ENST00000295683.2	-	2	888	c.768G>T	c.(766-768)ctG>ctT	p.L256L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	256					cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918)	p.L256L(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13					Ketoprofen(DB01009)	GGTTGTAGGGCAGCCAGCAAA	0.597																																						uc002vhc.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(766-768)CTG>CTT		interleukin 8 receptor alpha							110.0	101.0	104.0					2																	219029167		2203	4300	6503	SO:0001819	synonymous_variant	3577				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	g.chr2:219029167C>A	U11870	CCDS2409.1	2q35	2012-08-08	2009-11-25	2009-11-25	ENSG00000163464	ENSG00000163464		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"", ""Interleukins and interleukin receptors"""	6026	protein-coding gene	gene with protein product		146929	"""interleukin 8 receptor, alpha"""	CMKAR1, IL8RA		1303245, 1427896	Standard	NM_000634		Approved	CKR-1, CDw128a, CD181	uc002vhc.3	P25024	OTTHUMG00000133108	ENST00000295683.2:c.768G>T	2.37:g.219029167C>A							p.L256L	NM_000634	NP_000625	P25024	CXCR1_HUMAN			2	887	-			256			Helical; Name=6; (Potential).		B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2	Silent	SNP	ENST00000295683.2	37	c.768G>T	CCDS2409.1																																																																																				PASS	0.597	CXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256773.2	NM_000634		13	196	13	196	---	---	---	---
MRPL44	65080	broad.mit.edu	37	2	224822335	224822335	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:224822335G>T	ENST00000258383.3	+	1	215	c.146G>T	c.(145-147)cGc>cTc	p.R49L		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	49					mitochondrial translational elongation (GO:0070125)|RNA processing (GO:0006396)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.R49L(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGCGGCAGCGCCTTCTGCGG	0.697																																						uc002vnr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(145-147)CGC>CTC		mitochondrial ribosomal protein L44 precursor							13.0	16.0	15.0					2																	224822335		2197	4297	6494	SO:0001583	missense	65080				RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity	g.chr2:224822335G>T	AK022763	CCDS2459.1	2p24.3-p24.1	2012-09-13			ENSG00000135900	ENSG00000135900		"""Mitochondrial ribosomal proteins / large subunits"""	16650	protein-coding gene	gene with protein product	"""39S ribosomal protein L44, mitochondrial"""	611849					Standard	NM_022915		Approved	FLJ12701, FLJ13990	uc002vnr.4	Q9H9J2	OTTHUMG00000133164	ENST00000258383.3:c.146G>T	2.37:g.224822335G>T	ENSP00000258383:p.Arg49Leu						p.R49L	NM_022915	NP_075066	Q9H9J2	RM44_HUMAN		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)	1	215	+		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)	49					Q53S16|Q6IA62|Q9H821	Missense_Mutation	SNP	ENST00000258383.3	37	c.146G>T	CCDS2459.1	.	.	.	.	.	.	.	.	.	.	G	16.90	3.250998	0.59212	.	.	ENSG00000135900	ENST00000258383	T	0.75821	-0.97	5.2	3.31	0.37934	.	0.117031	0.64402	D	0.000016	T	0.62332	0.2419	L	0.48642	1.525	0.47905	D	0.999547	B	0.18461	0.028	B	0.17979	0.02	T	0.56238	-0.8012	10	0.27082	T	0.32	2.533	6.4167	0.21719	0.0934:0.0:0.7269:0.1797	.	49	Q9H9J2	RM44_HUMAN	L	49	ENSP00000258383:R49L	ENSP00000258383:R49L	R	+	2	0	MRPL44	224530579	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	2.758000	0.47565	1.412000	0.46977	0.655000	0.94253	CGC		PASS	0.697	MRPL44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256866.2	NM_022915		13	8	13	8	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225653789	225653789	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:225653789A>G	ENST00000258390.7	-	48	5477	c.5410T>C	c.(5410-5412)Tac>Cac	p.Y1804H	DOCK10_ENST00000409592.3_Missense_Mutation_p.Y1798H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1804	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y309H(1)|p.Y1802H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		ACCTCATTGTATGGTGTATCT	0.403																																						uc010fwz.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(5410-5412)TAC>CAC		dedicator of cytokinesis 10							169.0	144.0	152.0					2																	225653789		1911	4126	6037	SO:0001583	missense	55619						GTP binding	g.chr2:225653789A>G	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5410T>C	2.37:g.225653789A>G	ENSP00000258390:p.Tyr1804His					DOCK10_uc002vob.2_Missense_Mutation_p.Y1798H|DOCK10_uc002voa.2_Missense_Mutation_p.Y460H|DOCK10_uc002voc.2_Missense_Mutation_p.Y625H	p.Y1804H	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	48	5649	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1804			DHR-2.		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.5410T>C	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.024127	0.75390	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.20738	2.05;2.05	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.52240	0.1722	M	0.86178	2.8	0.52099	D	0.999947	D;D;D;P	0.76494	0.995;0.999;0.999;0.941	D;D;D;B	0.81914	0.978;0.994;0.995;0.411	T	0.59359	-0.7469	10	0.87932	D	0	.	16.2688	0.82603	1.0:0.0:0.0:0.0	.	1804;625;1798;466	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	H	1798;1804;309	ENSP00000386694:Y1798H;ENSP00000258390:Y1804H	ENSP00000258390:Y1804H	Y	-	1	0	DOCK10	225362033	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	8.948000	0.93006	2.244000	0.73946	0.533000	0.62120	TAC		PASS	0.403	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			14	23	14	23	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228884816	228884816	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:228884816C>G	ENST00000392056.3	-	7	800	c.754G>C	c.(754-756)Gcc>Ccc	p.A252P	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A252P	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	252						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A252P(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCTGGGTGGCTCCCTTTAGC	0.378																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(754-756)GCC>CCC		sphingosine kinase type 1-interacting protein							133.0	141.0	138.0					2																	228884816		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228884816C>G		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.754G>C	2.37:g.228884816C>G	ENSP00000375909:p.Ala252Pro					SPHKAP_uc002vpp.2_Missense_Mutation_p.A252P|SPHKAP_uc010zlx.1_Missense_Mutation_p.A252P	p.A252P	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	801	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	252					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.754G>C	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	9.047	0.991160	0.18966	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12569	2.67;2.67	5.72	-7.78	0.01223	.	1.622520	0.02722	N	0.114169	T	0.15349	0.0370	M	0.62723	1.935	0.09310	N	1	D;P	0.54397	0.966;0.787	P;B	0.47299	0.543;0.441	T	0.33904	-0.9850	10	0.32370	T	0.25	.	3.855	0.08971	0.1858:0.1828:0.0917:0.5396	.	252;252	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	P	252	ENSP00000375909:A252P;ENSP00000339886:A252P	ENSP00000339886:A252P	A	-	1	0	SPHKAP	228593060	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.860000	0.04272	-2.385000	0.00590	-0.890000	0.02929	GCC		PASS	0.378	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		226	110	226	110	---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230709	39230709	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:39230709A>T	ENST00000340369.3	-	2	456	c.228T>A	c.(226-228)gaT>gaA	p.D76E	XIRP1_ENST00000396251.1_Missense_Mutation_p.D76E|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	76					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.D76E(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCTCAGCCAGATCCTCGGCCA	0.597																																						uc003cjk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(226-228)GAT>GAA		xin actin-binding repeat containing 1							54.0	54.0	54.0					3																	39230709		2203	4300	6503	SO:0001583	missense	165904						actin binding	g.chr3:39230709A>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.228T>A	3.37:g.39230709A>T	ENSP00000343140:p.Asp76Glu					XIRP1_uc003cji.2_Missense_Mutation_p.D76E|XIRP1_uc003cjj.2_Intron	p.D76E	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	449	-			76					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	c.228T>A	CCDS2683.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.407484	0.42715	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05081	3.5;3.84	4.54	1.49	0.22878	.	0.129581	0.51477	U	0.000094	T	0.07548	0.0190	L	0.27053	0.805	0.80722	D	1	P;D	0.56035	0.911;0.974	P;P	0.56648	0.51;0.803	T	0.47586	-0.9106	10	0.16420	T	0.52	.	6.9994	0.24801	0.4635:0.0:0.5365:0.0	.	76;76	Q702N8;Q702N8-2	XIRP1_HUMAN;.	E	76	ENSP00000379550:D76E;ENSP00000343140:D76E	ENSP00000343140:D76E	D	-	3	2	XIRP1	39205713	0.992000	0.36948	1.000000	0.80357	0.988000	0.76386	0.268000	0.18571	0.397000	0.25310	0.533000	0.62120	GAT		PASS	0.597	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		15	27	15	27	---	---	---	---
TGM4	7047	broad.mit.edu	37	3	44932107	44932107	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:44932107G>T	ENST00000296125.4	+	4	381	c.313G>T	c.(313-315)Gtc>Ttc	p.V105F		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	105					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.V105F(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CACAGTGGCTGTCACCAGTTC	0.473																																						uc003coc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(313-315)GTC>TTC		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						169.0	150.0	156.0					3																	44932107		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44932107G>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.313G>T	3.37:g.44932107G>T	ENSP00000296125:p.Val105Phe					TGM4_uc003cob.2_RNA	p.V105F	NM_003241	NP_003232	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	4	386	+			105					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.313G>T	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898533	0.33535	.	.	ENSG00000163810	ENST00000296125	D	0.90620	-2.7	2.28	1.31	0.21738	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.351259	0.19104	U	0.122627	D	0.92195	0.7525	M	0.78344	2.41	0.09310	N	1	P	0.36010	0.532	P	0.49451	0.611	D	0.86058	0.1530	10	0.62326	D	0.03	.	8.1165	0.30946	0.0:0.2523:0.7476:0.0	.	105	P49221	TGM4_HUMAN	F	105	ENSP00000296125:V105F	ENSP00000296125:V105F	V	+	1	0	TGM4	44907111	0.898000	0.30612	0.002000	0.10522	0.512000	0.34134	1.411000	0.34702	0.206000	0.20587	0.460000	0.39030	GTC		PASS	0.473	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		52	39	52	39	---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49160961	49160961	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:49160961C>A	ENST00000418109.1	-	26	4065	c.3901G>T	c.(3901-3903)Gag>Tag	p.E1301*	USP19_ENST00000398888.2_5'Flank|USP19_ENST00000434032.2_5'Flank|LAMB2_ENST00000305544.4_Nonsense_Mutation_p.E1301*|LAMB2_ENST00000464891.1_5'Flank|USP19_ENST00000417901.1_5'Flank|USP19_ENST00000398892.3_5'Flank|USP19_ENST00000453664.1_5'Flank|USP19_ENST00000488993.1_5'Flank	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1301	Domain II.				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.E1301*(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)		CTATCTCGCTCCAGACCACTT	0.502																																						uc003cwe.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)	3						c.(3901-3903)GAG>TAG		laminin, beta 2 precursor							112.0	102.0	105.0					3																	49160961		2203	4300	6503	SO:0001587	stop_gained	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49160961C>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.3901G>T	3.37:g.49160961C>A	ENSP00000388325:p.Glu1301*					USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	p.E1301*	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)	25	4200	-			1301			Domain II.|Potential.		Q16321	Nonsense_Mutation	SNP	ENST00000418109.1	37	c.3901G>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	42	9.602938	0.99217	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000395387	.	.	.	5.48	4.6	0.57074	.	0.050457	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	16.6518	0.85218	0.0:0.87:0.13:0.0	.	.	.	.	X	1301;1301;68	.	ENSP00000307156:E1301X	E	-	1	0	LAMB2	49135965	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.889000	0.69766	1.410000	0.46936	0.655000	0.94253	GAG		PASS	0.502	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		51	35	51	35	---	---	---	---
CCDC36	339834	broad.mit.edu	37	3	49293826	49293826	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:49293826C>A	ENST00000438782.1	+	8	1132	c.896C>A	c.(895-897)gCc>gAc	p.A299D	CCDC36_ENST00000296449.5_Missense_Mutation_p.A299D|CCDC36_ENST00000452691.2_Missense_Mutation_p.A299D			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	299								p.A289D(1)		endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		TTATGGCAGGCCCAGGCCCTC	0.522																																						uc003cwk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(895-897)GCC>GAC		coiled-coil domain containing 36							56.0	61.0	59.0					3																	49293826		2203	4300	6503	SO:0001583	missense	339834							g.chr3:49293826C>A	AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.896C>A	3.37:g.49293826C>A	ENSP00000391788:p.Ala299Asp					CCDC36_uc011bck.1_Missense_Mutation_p.A299D	p.A299D	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)	10	1283	+			299					C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	ENST00000438782.1	37	c.896C>A	CCDS33755.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155822	0.78114	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000309062	T;T;T	0.49139	0.79;0.79;0.79	5.15	2.36	0.29203	.	0.384564	0.22445	N	0.059977	T	0.47911	0.1471	L	0.32530	0.975	0.09310	N	0.999997	D	0.55385	0.971	P	0.58454	0.839	T	0.31806	-0.9930	10	0.66056	D	0.02	-1.2882	7.2728	0.26266	0.0:0.5851:0.3264:0.0885	.	299	Q8IYA8	CCD36_HUMAN	D	299;299;299;279	ENSP00000296449:A299D;ENSP00000391788:A299D;ENSP00000407837:A299D	ENSP00000296449:A299D	A	+	2	0	CCDC36	49268830	0.000000	0.05858	0.878000	0.34440	0.897000	0.52465	-0.123000	0.10611	0.329000	0.23460	-0.499000	0.04595	GCC		PASS	0.522	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342332.1	NM_178173		16	16	16	16	---	---	---	---
IQCF1	132141	broad.mit.edu	37	3	51937094	51937094	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:51937094C>A	ENST00000310914.5	-	2	77	c.15G>T	c.(13-15)caG>caT	p.Q5H		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	5								p.Q5H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TCTTTTGGGGCTGCTTCTCCT	0.537																																						uc003dbv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(13-15)CAG>CAT		IQ motif containing F1							369.0	341.0	350.0					3																	51937094		2203	4300	6503	SO:0001583	missense	132141							g.chr3:51937094C>A	BC029595	CCDS2836.1	3p21.31	2008-02-05			ENSG00000173389	ENSG00000173389			28607	protein-coding gene	gene with protein product						12477932	Standard	NM_152397		Approved	MGC39725	uc003dbv.3	Q8N6M8	OTTHUMG00000156908	ENST00000310914.5:c.15G>T	3.37:g.51937094C>A	ENSP00000307958:p.Gln5His					IQCF1_uc003dbq.3_RNA	p.Q5H	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	113	-			5					Q8N711	Missense_Mutation	SNP	ENST00000310914.5	37	c.15G>T	CCDS2836.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.748728	0.30955	.	.	ENSG00000173389	ENST00000535733;ENST00000310914	T	0.36699	1.24	3.81	2.02	0.26589	.	0.271210	0.19854	N	0.104576	T	0.35128	0.0921	L	0.27053	0.805	0.09310	N	1	D	0.71674	0.998	P	0.58520	0.84	T	0.07309	-1.0779	10	0.54805	T	0.06	-12.9113	5.8978	0.18949	0.0:0.7632:0.0:0.2368	.	5	Q8N6M8	IQCF1_HUMAN	H	5	ENSP00000307958:Q5H	ENSP00000307958:Q5H	Q	-	3	2	IQCF1	51912134	0.322000	0.24634	0.013000	0.15412	0.132000	0.20833	1.515000	0.35845	0.596000	0.29794	0.491000	0.48974	CAG		PASS	0.537	IQCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346568.1	NM_152397		144	120	144	120	---	---	---	---
TWF2	11344	broad.mit.edu	37	3	52263188	52263188	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:52263188C>A	ENST00000305533.5	-	9	1155	c.912G>T	c.(910-912)acG>acT	p.T304T	TLR9_ENST00000494383.1_Intron|TLR9_ENST00000597542.1_Intron|TWF2_ENST00000499914.2_3'UTR	NM_007284.3	NP_009215.1	Q6IBS0	TWF2_HUMAN	twinfilin actin-binding protein 2	304	ADF-H 2. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|cell projection organization (GO:0030030)|cellular response to growth factor stimulus (GO:0071363)|cellular response to retinoic acid (GO:0071300)|negative regulation of actin filament polymerization (GO:0030837)|positive regulation of axon extension (GO:0045773)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of microvillus length (GO:0032532)|sequestering of actin monomers (GO:0042989)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|stereocilium (GO:0032420)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)	p.T304T(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGAACTCTGCCGTCAGCTCTG	0.647																																						uc003ddd.2																			1	Substitution - coding silent(1)		lung(1)	stomach(1)|ovary(1)|lung(1)	3						c.(910-912)ACG>ACT		twinfilin-like protein							106.0	93.0	98.0					3																	52263188		2203	4300	6503	SO:0001819	synonymous_variant	11344					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding	g.chr3:52263188C>A	Y17169	CCDS2849.1	3p21.1	2013-04-25	2013-04-25	2006-11-13	ENSG00000247596	ENSG00000247596			9621	protein-coding gene	gene with protein product		607433	"""protein tyrosine kinase 9-like (A6-related protein)"", ""PTK9L protein tyrosine kinase 9-like (A6-related protein)"", ""twinfilin, actin-binding protein, homolog 2 (Drosophila)"""	PTK9L		10406962, 12807912	Standard	NM_007284		Approved	A6RP, A6r		Q6IBS0	OTTHUMG00000158105	ENST00000305533.5:c.912G>T	3.37:g.52263188C>A						TLR9_uc003ddb.2_Intron|TLR9_uc003ddc.1_Intron|TWF2_uc010hmc.2_3'UTR	p.T304T	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	9	1063	-			304			ADF-H 2.		Q9Y3F5	Silent	SNP	ENST00000305533.5	37	c.912G>T	CCDS2849.1																																																																																				PASS	0.647	TWF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350199.2			60	58	60	58	---	---	---	---
PTPRG	5793	broad.mit.edu	37	3	62253411	62253411	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:62253411A>G	ENST00000474889.1	+	19	3168	c.2791A>G	c.(2791-2793)Aca>Gca	p.T931A	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.T902A|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	931	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T931A(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TTTGAAGTCTACATTTGAAGA	0.398																																						uc003dlb.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(2791-2793)ACA>GCA		protein tyrosine phosphatase, receptor type, G							157.0	149.0	152.0					3																	62253411		2203	4300	6503	SO:0001583	missense	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62253411A>G	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.2791A>G	3.37:g.62253411A>G	ENSP00000418112:p.Thr931Ala					PTPRG_uc003dlc.2_Missense_Mutation_p.T902A|PTPRG_uc011bfi.1_Missense_Mutation_p.T177A|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	p.T931A	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	19	3510	+			931			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	37	c.2791A>G	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	A	30	5.051661	0.93793	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	D;D	0.89270	-2.49;-2.49	5.85	5.85	0.93711	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.95510	0.8541	M	0.89840	3.065	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.985	D;D;D	0.87578	0.995;0.998;0.931	D	0.96274	0.9201	10	0.87932	D	0	.	16.2303	0.82332	1.0:0.0:0.0:0.0	.	177;902;931	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	A	931;902	ENSP00000418112:T931A;ENSP00000295874:T902A	ENSP00000295874:T902A	T	+	1	0	PTPRG	62228451	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.296000	0.96104	2.233000	0.73108	0.533000	0.62120	ACA		PASS	0.398	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841		63	84	63	84	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108690217	108690217	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:108690217T>A	ENST00000483760.1	-	24	2490	c.2447A>T	c.(2446-2448)cAg>cTg	p.Q816L	MORC1_ENST00000232603.5_Missense_Mutation_p.Q837L					MORC family CW-type zinc finger 1									p.Q837L(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGATGGTAGCTGATGCTCAGG	0.403																																						uc003dxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)|breast(2)	8						c.(2509-2511)CAG>CTG		MORC family CW-type zinc finger 1							118.0	121.0	120.0					3																	108690217		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108690217T>A	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2447A>T	3.37:g.108690217T>A	ENSP00000417282:p.Gln816Leu					MORC1_uc011bhn.1_Missense_Mutation_p.Q816L	p.Q837L	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			25	2597	-			837						Missense_Mutation	SNP	ENST00000483760.1	37	c.2510A>T		.	.	.	.	.	.	.	.	.	.	T	11.79	1.743482	0.30865	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06449	3.31;3.3	4.69	-0.753	0.11068	.	0.882556	0.09445	N	0.801222	T	0.04770	0.0129	L	0.32530	0.975	0.25466	N	0.98788	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.41980	-0.9478	10	0.44086	T	0.13	4.9219	3.5642	0.07893	0.1583:0.2723:0.0:0.5694	.	816;837	E7ERX1;Q86VD1	.;MORC1_HUMAN	L	837;816	ENSP00000232603:Q837L;ENSP00000417282:Q816L	ENSP00000232603:Q837L	Q	-	2	0	MORC1	110172907	0.357000	0.24938	0.966000	0.40874	0.911000	0.54048	0.397000	0.20883	-0.187000	0.10516	-0.280000	0.10049	CAG		PASS	0.403	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			39	35	39	35	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113890804	113890804	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:113890804G>A	ENST00000460779.1	-	3	325	c.36C>T	c.(34-36)aaC>aaT	p.N12N	DRD3_ENST00000467632.1_Silent_p.N12N|DRD3_ENST00000295881.7_Silent_p.N12N|DRD3_ENST00000383673.2_Silent_p.N12N	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	12					acid secretion (GO:0046717)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|arachidonic acid secretion (GO:0050482)|behavioral response to cocaine (GO:0048148)|cellular calcium ion homeostasis (GO:0006874)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway (GO:0007186)|gastric emptying (GO:0035483)|learning (GO:0007612)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of sodium:proton antiporter activity (GO:0032416)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of mitosis (GO:0045840)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of cAMP metabolic process (GO:0030814)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|regulation of dopamine secretion (GO:0014059)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of lipid metabolic process (GO:0019216)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of multicellular organism growth (GO:0040014)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to morphine (GO:0043278)|social behavior (GO:0035176)|synaptic transmission, dopaminergic (GO:0001963)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)	p.N12N(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Amisulpride(DB06288)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Domperidone(DB01184)|Dopamine(DB00988)|Haloperidol(DB00502)|Iloperidone(DB04946)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pimozide(DB01100)|Pramipexole(DB00413)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sulpiride(DB00391)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CACAGGTGTAGTTCAGGTGGC	0.577																																						uc003ebd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(34-36)AAC>AAT		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						28.0	25.0	26.0					3																	113890804		2202	4298	6500	SO:0001819	synonymous_variant	1814				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding	g.chr3:113890804G>A		CCDS2978.1, CCDS33829.1	3q13.3	2012-08-08			ENSG00000151577	ENSG00000151577		"""GPCR / Class A : Dopamine receptors"""	3024	protein-coding gene	gene with protein product		126451				1916765	Standard	XM_005247171		Approved		uc003ebc.1	P35462	OTTHUMG00000159334	ENST00000460779.1:c.36C>T	3.37:g.113890804G>A						DRD3_uc010hqn.1_Silent_p.N12N|DRD3_uc003ebb.1_Silent_p.N12N|DRD3_uc003ebc.1_Silent_p.N12N	p.N12N	NM_000796	NP_000787	P35462	DRD3_HUMAN			3	459	-			12			Extracellular (Probable).		A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.36C>T	CCDS2978.1																																																																																				PASS	0.577	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		8	5	8	5	---	---	---	---
CD80	941	broad.mit.edu	37	3	119276494	119276494	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:119276494G>C	ENST00000264246.3	-	2	444	c.82C>G	c.(82-84)Ctt>Gtt	p.L28V	CD80_ENST00000383669.3_Missense_Mutation_p.L28V|CD80_ENST00000478182.1_Missense_Mutation_p.L28V|CD80_ENST00000383668.3_Missense_Mutation_p.L28V	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	28					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.L28V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	AAGTGAGAAAGACCAGCCAGC	0.493																																					Melanoma(132;135 1764 1806 5833 14593)	uc003ecq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(82-84)CTT>GTT		CD80 antigen precursor	Abatacept(DB01281)						147.0	123.0	131.0					3																	119276494		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119276494G>C		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.82C>G	3.37:g.119276494G>C	ENSP00000264246:p.Leu28Val					CD80_uc010hqt.1_Missense_Mutation_p.L28V|CD80_uc010hqu.1_Missense_Mutation_p.L28V|CD80_uc003ecr.1_Missense_Mutation_p.L28V	p.L28V	NM_005191	NP_005182	P33681	CD80_HUMAN			2	477	-			28					Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.82C>G	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	G	11.13	1.548176	0.27652	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.18960	4.84;4.84;4.77;2.18	3.85	0.471	0.16752	Immunoglobulin-like (1);	0.694589	0.11921	N	0.516717	T	0.36936	0.0985	M	0.79475	2.455	0.09310	N	1	D;D;D;D	0.71674	0.998;0.989;0.989;0.989	D;P;P;P	0.67725	0.953;0.824;0.869;0.869	T	0.17623	-1.0363	10	0.31617	T	0.26	-2.7594	3.2918	0.06952	0.16:0.0:0.421:0.4191	.	28;28;28;28	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	V	28	ENSP00000264246:L28V;ENSP00000418364:L28V;ENSP00000373165:L28V;ENSP00000373164:L28V	ENSP00000264246:L28V	L	-	1	0	CD80	120759184	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	0.590000	0.23954	0.073000	0.16731	-0.169000	0.13324	CTT		PASS	0.493	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		11	33	11	33	---	---	---	---
CD80	941	broad.mit.edu	37	3	119276533	119276533	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:119276533G>A	ENST00000264246.3	-	2	405	c.43C>T	c.(43-45)Cca>Tca	p.P15S	CD80_ENST00000383669.3_Missense_Mutation_p.P15S|CD80_ENST00000478182.1_Missense_Mutation_p.P15S|CD80_ENST00000383668.3_Missense_Mutation_p.P15S	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	15					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.P15S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TTGAGGTATGGACACTTGGAT	0.478																																					Melanoma(132;135 1764 1806 5833 14593)	uc003ecq.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(43-45)CCA>TCA		CD80 antigen precursor	Abatacept(DB01281)						184.0	151.0	162.0					3																	119276533		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119276533G>A		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.43C>T	3.37:g.119276533G>A	ENSP00000264246:p.Pro15Ser					CD80_uc010hqt.1_Missense_Mutation_p.P15S|CD80_uc010hqu.1_Missense_Mutation_p.P15S|CD80_uc003ecr.1_Missense_Mutation_p.P15S	p.P15S	NM_005191	NP_005182	P33681	CD80_HUMAN			2	438	-			15					Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.43C>T	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	G	9.505	1.104114	0.20632	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.12465	4.89;4.89;4.96;2.68	3.85	-0.276	0.12902	Immunoglobulin-like (1);	0.985884	0.08228	N	0.978026	T	0.13756	0.0333	M	0.71581	2.175	0.09310	N	1	B;B;B;B	0.33883	0.129;0.271;0.43;0.43	B;B;B;B	0.31869	0.096;0.079;0.137;0.137	T	0.36648	-0.9739	10	0.15499	T	0.54	1.2002	6.4338	0.21811	0.5067:0.0:0.4933:0.0	.	15;15;15;15	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	S	15	ENSP00000264246:P15S;ENSP00000418364:P15S;ENSP00000373165:P15S;ENSP00000373164:P15S	ENSP00000264246:P15S	P	-	1	0	CD80	120759223	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.238000	0.18004	-0.068000	0.12953	-0.150000	0.13652	CCA		PASS	0.478	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		12	35	12	35	---	---	---	---
HEG1	57493	broad.mit.edu	37	3	124720847	124720847	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:124720847G>A	ENST00000311127.4	-	11	3433	c.3366C>T	c.(3364-3366)aaC>aaT	p.N1122N		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1122					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.N1122N(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TCACCACCGCGTTGGACTCCC	0.483																																						uc003ehs.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)	2						c.(3364-3366)AAC>AAT		HEG homolog 1 precursor							65.0	65.0	65.0					3																	124720847		2004	4175	6179	SO:0001819	synonymous_variant	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124720847G>A	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.3366C>T	3.37:g.124720847G>A						HEG1_uc003ehr.3_Translation_Start_Site|HEG1_uc011bke.1_Silent_p.N1222N	p.N1122N	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			11	3434	-			1122			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Silent	SNP	ENST00000311127.4	37	c.3366C>T	CCDS46898.1																																																																																				PASS	0.483	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2	XM_087386		7	25	7	25	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126726697	126726697	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:126726697G>A	ENST00000393409.2	+	8	2053	c.2053G>A	c.(2053-2055)Gtg>Atg	p.V685M	PLXNA1_ENST00000251772.4_Missense_Mutation_p.V662M	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	685					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.V662M(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ATACCGCCACGTGTGCACACA	0.627																																						uc003ejg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1984-1986)GTG>ATG		plexin A1							80.0	71.0	74.0					3																	126726697		2203	4299	6502	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126726697G>A	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.2053G>A	3.37:g.126726697G>A	ENSP00000377061:p.Val685Met						p.V662M	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	8	1988	+			685			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.1984G>A	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	9.487	1.099645	0.20552	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.17854	2.25;2.25	3.63	2.74	0.32292	.	0.277746	0.25436	N	0.030698	T	0.09905	0.0243	N	0.20685	0.6	0.37780	D	0.926974	B	0.27823	0.19	B	0.29663	0.105	T	0.13176	-1.0519	10	0.45353	T	0.12	.	6.1876	0.20506	0.2381:0.0:0.7619:0.0	.	685	Q9UIW2	PLXA1_HUMAN	M	685;662	ENSP00000377061:V685M;ENSP00000251772:V662M	ENSP00000251772:V662M	V	+	1	0	PLXNA1	128209387	0.996000	0.38824	0.909000	0.35828	0.586000	0.36452	2.516000	0.45520	2.025000	0.59659	0.467000	0.42956	GTG		PASS	0.627	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		27	52	27	52	---	---	---	---
TMEM108	66000	broad.mit.edu	37	3	133099697	133099697	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:133099697C>T	ENST00000321871.6	+	4	1352	c.1142C>T	c.(1141-1143)aCa>aTa	p.T381I	TMEM108_ENST00000393130.3_Missense_Mutation_p.T381I|TMEM108_ENST00000515826.1_Missense_Mutation_p.T381I|TMEM108_ENST00000508711.1_Intron	NM_001136469.1|NM_023943.2	NP_001129941.1|NP_076432.1	Q6UXF1	TM108_HUMAN	transmembrane protein 108	381						integral component of membrane (GO:0016021)		p.T381I(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGAGCATCCACAACCCCACAA	0.622																																						uc003eph.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1141-1143)ACA>ATA		transmembrane protein 108 precursor							55.0	54.0	54.0					3																	133099697		2203	4299	6502	SO:0001583	missense	66000					integral to membrane		g.chr3:133099697C>T	AL136578	CCDS33858.1, CCDS75012.1	3q22.1	2014-04-07			ENSG00000144868	ENSG00000144868			28451	protein-coding gene	gene with protein product	"""cancer/testis antigen 124"""					11214970	Standard	XM_005247726		Approved	MGC3040, CT124	uc003epi.3	Q6UXF1	OTTHUMG00000159685	ENST00000321871.6:c.1142C>T	3.37:g.133099697C>T	ENSP00000324651:p.Thr381Ile					TMEM108_uc003epi.2_Missense_Mutation_p.T381I|TMEM108_uc003epj.1_Missense_Mutation_p.T381I|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.T332I	p.T381I	NM_023943	NP_076432	Q6UXF1	TM108_HUMAN			4	1416	+			381			Extracellular (Potential).		D3DNC9|Q9BQH1|Q9BW81|Q9C0H3	Missense_Mutation	SNP	ENST00000321871.6	37	c.1142C>T	CCDS33858.1	.	.	.	.	.	.	.	.	.	.	C	3.217	-0.160308	0.06502	.	.	ENSG00000144868	ENST00000321871;ENST00000393130;ENST00000515826	T;T;T	0.46063	0.9;0.9;0.88	3.66	1.83	0.25207	.	0.716809	0.11977	N	0.511121	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	B;B	0.25667	0.131;0.012	B;B	0.24541	0.054;0.004	T	0.25779	-1.0122	10	0.19147	T	0.46	-0.9952	6.7897	0.23693	0.0:0.6955:0.0:0.3045	.	381;381	E9PB58;Q6UXF1	.;TM108_HUMAN	I	381	ENSP00000324651:T381I;ENSP00000376838:T381I;ENSP00000423338:T381I	ENSP00000324651:T381I	T	+	2	0	TMEM108	134582387	0.000000	0.05858	0.003000	0.11579	0.430000	0.31655	0.666000	0.25097	0.349000	0.23975	0.561000	0.74099	ACA		PASS	0.622	TMEM108-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356907.2	NM_023943		51	89	51	89	---	---	---	---
PRR23B	389151	broad.mit.edu	37	3	138739091	138739091	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:138739091T>A	ENST00000329447.5	-	1	677	c.413A>T	c.(412-414)gAg>gTg	p.E138V	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	138								p.E138V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAATTCCAGCTCGACGACGAC	0.657																																						uc003esy.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(412-414)GAG>GTG		proline rich 23B							53.0	58.0	57.0					3																	138739091		2203	4300	6503	SO:0001583	missense	389151							g.chr3:138739091T>A	BC137146	CCDS33868.1	3q22.3	2014-06-03			ENSG00000184814	ENSG00000184814			33764	protein-coding gene	gene with protein product							Standard	NM_001013650		Approved	FLJ46116	uc003esy.1	Q6ZRT6	OTTHUMG00000160633	ENST00000329447.5:c.413A>T	3.37:g.138739091T>A	ENSP00000328768:p.Glu138Val						p.E138V	NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN			1	678	-			138					B2RNV9	Missense_Mutation	SNP	ENST00000329447.5	37	c.413A>T	CCDS33868.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.600836	0.66332	.	.	ENSG00000184814	ENST00000329447	.	.	.	3.04	-3.45	0.04781	.	1.753680	0.03304	N	0.189428	T	0.39462	0.1079	L	0.59436	1.845	0.09310	N	1	D	0.53462	0.96	P	0.49252	0.604	T	0.44937	-0.9295	9	0.66056	D	0.02	.	4.0689	0.09872	0.3516:0.0:0.3583:0.2901	.	138	Q6ZRT6	PR23B_HUMAN	V	138	.	ENSP00000328768:E138V	E	-	2	0	PRR23B	140221781	0.002000	0.14202	0.000000	0.03702	0.560000	0.35617	0.117000	0.15583	-0.642000	0.05480	0.374000	0.22700	GAG		PASS	0.657	PRR23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361501.1	NM_001013650		53	80	53	80	---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140281055	140281055	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:140281055T>A	ENST00000458420.3	+	13	2307	c.2117T>A	c.(2116-2118)tTg>tAg	p.L706*		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	706					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.L706*(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						GGAGGGGACTTGGACCCAAGG	0.483										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.(2116-2118)TTG>TAG		calsyntenin 2 precursor							107.0	103.0	104.0					3																	140281055		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.chr3:140281055T>A	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.2117T>A	3.37:g.140281055T>A	ENSP00000402460:p.Leu706*	HNSCC(16;0.037)					p.L706*	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			13	2307	+			706			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Nonsense_Mutation	SNP	ENST00000458420.3	37	c.2117T>A	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	T	39	7.851549	0.98525	.	.	ENSG00000158258	ENST00000458420	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.8663	13.7229	0.62740	0.0:0.0:0.0:1.0	.	.	.	.	X	706	.	.	L	+	2	0	CLSTN2	141763745	1.000000	0.71417	0.979000	0.43373	0.778000	0.44026	7.698000	0.84413	2.198000	0.70561	0.533000	0.62120	TTG		PASS	0.483	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131		45	90	45	90	---	---	---	---
TRIM42	287015	broad.mit.edu	37	3	140397113	140397113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:140397113G>A	ENST00000286349.3	+	1	233	c.42G>A	c.(40-42)tgG>tgA	p.W14*		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	14	Cys-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.W14*(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTTGTACATGGCAGAGATGTT	0.512																																						uc003eto.1																			1	Substitution - Nonsense(1)		lung(1)	lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(40-42)TGG>TGA		tripartite motif-containing 42							365.0	309.0	328.0					3																	140397113		2203	4300	6503	SO:0001587	stop_gained	287015					intracellular	zinc ion binding	g.chr3:140397113G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.42G>A	3.37:g.140397113G>A	ENSP00000286349:p.Trp14*						p.W14*	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			1	233	+			14			Cys-rich.		A1L4B4|Q8N832|Q8NDL3	Nonsense_Mutation	SNP	ENST00000286349.3	37	c.42G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	37	6.159747	0.97334	.	.	ENSG00000155890	ENST00000286349	.	.	.	5.37	5.37	0.77165	.	0.252096	0.28871	N	0.013864	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.9197	14.6084	0.68498	0.0:0.0:1.0:0.0	.	.	.	.	X	14	.	ENSP00000286349:W14X	W	+	3	0	TRIM42	141879803	1.000000	0.71417	1.000000	0.80357	0.571000	0.35966	3.810000	0.55613	2.514000	0.84764	0.563000	0.77884	TGG		PASS	0.512	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2	NM_152616		134	194	134	194	---	---	---	---
TRPC1	7220	broad.mit.edu	37	3	142455367	142455367	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:142455367G>A	ENST00000476941.1	+	2	805	c.319G>A	c.(319-321)Ggt>Agt	p.G107S	TRPC1_ENST00000273482.6_Missense_Mutation_p.G107S	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	107					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)	p.G107S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TTTGGACTACGGTTGTCAGGT	0.368																																						uc003evc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(319-321)GGT>AGT		transient receptor potential cation channel,							153.0	154.0	154.0					3																	142455367		2203	4300	6503	SO:0001583	missense	7220				axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr3:142455367G>A	X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.319G>A	3.37:g.142455367G>A	ENSP00000419313:p.Gly107Ser					TRPC1_uc003evb.2_Missense_Mutation_p.G107S	p.G107S	NM_003304	NP_003295	P48995	TRPC1_HUMAN			2	455	+			107			ANK 2.|Cytoplasmic (Potential).		Q14CE4	Missense_Mutation	SNP	ENST00000476941.1	37	c.319G>A	CCDS58856.1	.	.	.	.	.	.	.	.	.	.	G	36	5.757648	0.96898	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.62498	0.02;0.02	5.97	5.97	0.96955	Ankyrin repeat-containing domain (3);	0.044822	0.85682	D	0.000000	T	0.70971	0.3285	L	0.55017	1.72	0.80722	D	1	D;P	0.61080	0.989;0.744	P;B	0.52554	0.702;0.269	T	0.71659	-0.4526	10	0.62326	D	0.03	-10.4461	20.4238	0.99064	0.0:0.0:1.0:0.0	.	107;107	P48995;P48995-2	TRPC1_HUMAN;.	S	107	ENSP00000419313:G107S;ENSP00000273482:G107S	ENSP00000273482:G107S	G	+	1	0	TRPC1	143938057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.379000	0.97198	2.828000	0.97474	0.655000	0.94253	GGT		PASS	0.368	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354520.1	NM_003304		21	250	21	250	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143297493	143297493	+	Silent	SNP	C	C	A	rs141404629	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:143297493C>A	ENST00000316549.6	-	7	1036	c.828G>T	c.(826-828)ggG>ggT	p.G276G		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	276					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.G276G(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCAGGAAATTCCCCACAGACT	0.468																																						uc003evn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(826-828)GGG>GGT		solute carrier family 9 (sodium/hydrogen							123.0	119.0	120.0					3																	143297493		2203	4300	6503	SO:0001819	synonymous_variant	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143297493C>A	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.828G>T	3.37:g.143297493C>A						SLC9A9_uc011bnk.1_Silent_p.G150G	p.G276G	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			7	1010	-			276					A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Silent	SNP	ENST00000316549.6	37	c.828G>T	CCDS33872.1																																																																																				PASS	0.468	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		35	84	35	84	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151094642	151094642	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:151094642A>G	ENST00000474524.1	+	27	4041	c.4003A>G	c.(4003-4005)Aaa>Gaa	p.K1335E	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.K1195E	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.K1335E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTAATGATCAAACAGTGCTT	0.353																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4003-4005)AAA>GAA		mediator of RNA polymerase II transcription,							92.0	90.0	91.0					3																	151094642		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151094642A>G	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4003A>G	3.37:g.151094642A>G	ENSP00000417235:p.Lys1335Glu					MED12L_uc011bnz.1_Missense_Mutation_p.K1195E|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.K498E	p.K1335E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		27	4041	+			1335					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4003A>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	A	33	5.206354	0.95033	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.68331	-0.15;-0.32	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.71036	2.16	0.80722	D	1	P;D;D	0.67145	0.778;0.996;0.993	P;D;D	0.73708	0.646;0.981;0.971	T	0.83097	-0.0130	10	0.87932	D	0	-27.1069	15.5715	0.76341	1.0:0.0:0.0:0.0	.	1195;1334;1335	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	E	1335;1195	ENSP00000417235:K1335E;ENSP00000273432:K1195E	ENSP00000273432:K1195E	K	+	1	0	MED12L	152577332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.955000	0.93058	2.141000	0.66446	0.533000	0.62120	AAA		PASS	0.353	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		32	86	32	86	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155203429	155203429	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:155203429G>T	ENST00000340059.7	-	22	2713	c.2714C>A	c.(2713-2715)tCc>tAc	p.S905Y	PLCH1_ENST00000334686.6_Missense_Mutation_p.S867Y|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000494598.1_Missense_Mutation_p.S885Y|PLCH1_ENST00000414191.1_Missense_Mutation_p.S867Y|PLCH1_ENST00000460012.1_Missense_Mutation_p.S867Y|PLCH1_ENST00000447496.2_Missense_Mutation_p.S905Y	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	905					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.S867Y(1)|p.S905Y(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACATAATGGGAATTGTTTTC	0.458																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(2713-2715)TCC>TAC		phospholipase C eta 1 isoform a							87.0	85.0	86.0					3																	155203429		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155203429G>T	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.2714C>A	3.37:g.155203429G>T	ENSP00000345988:p.Ser905Tyr					PLCH1_uc011boj.1_Missense_Mutation_p.S905Y|PLCH1_uc011bol.1_Missense_Mutation_p.S867Y	p.S905Y	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		22	2991	-			905					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.2714C>A	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888865	0.52014	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.34472	1.96;1.92;1.36;1.81;1.92;1.92	5.88	5.0	0.66597	.	0.738856	0.13491	N	0.384001	T	0.46600	0.1401	L	0.47716	1.5	0.24018	N	0.996159	P;P;P	0.47545	0.855;0.897;0.531	P;P;B	0.52109	0.69;0.594;0.382	T	0.38373	-0.9664	10	0.72032	D	0.01	.	14.381	0.66911	0.0:0.354:0.646:0.0	.	867;905;905	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	Y	885;867;905;905;867;867	ENSP00000419100:S885Y;ENSP00000417502:S867Y;ENSP00000402759:S905Y;ENSP00000345988:S905Y;ENSP00000335469:S867Y;ENSP00000412977:S867Y	ENSP00000335469:S867Y	S	-	2	0	PLCH1	156686123	0.995000	0.38212	0.243000	0.24186	0.583000	0.36354	2.632000	0.46511	1.481000	0.48307	0.655000	0.94253	TCC		PASS	0.458	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		24	72	24	72	---	---	---	---
PLCH1	23007	broad.mit.edu	37	3	155311743	155311743	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:155311743T>A	ENST00000340059.7	-	3	420	c.421A>T	c.(421-423)Agg>Tgg	p.R141W	PLCH1_ENST00000334686.6_Missense_Mutation_p.R123W|PLCH1_ENST00000494598.1_Missense_Mutation_p.R141W|PLCH1_ENST00000414191.1_Missense_Mutation_p.R123W|PLCH1_ENST00000460012.1_Missense_Mutation_p.R123W|PLCH1_ENST00000447496.2_Missense_Mutation_p.R141W	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	141					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.R123W(1)|p.R141W(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATGGGTCCTCTGCCTTTTG	0.493																																						uc011bok.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(421-423)AGG>TGG		phospholipase C eta 1 isoform a							84.0	85.0	84.0					3																	155311743		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155311743T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.421A>T	3.37:g.155311743T>A	ENSP00000345988:p.Arg141Trp					PLCH1_uc011boj.1_Missense_Mutation_p.R141W|PLCH1_uc011bol.1_Missense_Mutation_p.R123W	p.R141W	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		3	698	-			141					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.421A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.263163	0.80358	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.63	4.41	0.53225	EF-hand-like domain (1);	.	.	.	.	T	0.52885	0.1762	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.995	T	0.52041	-0.8628	9	0.48119	T	0.1	.	13.318	0.60417	0.0:0.0:0.1309:0.8691	.	123;141;141	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	W	141;123;141;141;123;123	ENSP00000419100:R141W;ENSP00000417502:R123W;ENSP00000402759:R141W;ENSP00000345988:R141W;ENSP00000335469:R123W;ENSP00000412977:R123W	ENSP00000335469:R123W	R	-	1	2	PLCH1	156794437	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.293000	0.65680	2.271000	0.75665	0.459000	0.35465	AGG		PASS	0.493	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1	NM_014996		41	38	41	38	---	---	---	---
LRRIQ4	344657	broad.mit.edu	37	3	169540420	169540420	+	Silent	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:169540420G>C	ENST00000340806.6	+	1	711	c.711G>C	c.(709-711)tcG>tcC	p.S237S		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	237								p.S237S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCAACTGTCGGTGCTCGATT	0.572																																						uc003fgb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(709-711)TCG>TCC		leucine-rich repeats and IQ motif containing 4							50.0	54.0	53.0					3																	169540420		1986	4156	6142	SO:0001819	synonymous_variant	344657							g.chr3:169540420G>C		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.711G>C	3.37:g.169540420G>C							p.S237S	NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN			1	711	+			237			LRR 10.			Silent	SNP	ENST00000340806.6	37	c.711G>C	CCDS46951.1																																																																																				PASS	0.572	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		46	76	46	76	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			24	62	24	62	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179458136	179458136	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr3:179458136C>G	ENST00000263966.3	+	11	1827	c.1356C>G	c.(1354-1356)ttC>ttG	p.F452L	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.F387L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	452	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.F452L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGGAATTCTTCTTGCACCTGG	0.542																																						uc003fkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1354-1356)TTC>TTG		ubiquitin thiolesterase 13							94.0	86.0	89.0					3																	179458136		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179458136C>G	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1356C>G	3.37:g.179458136C>G	ENSP00000263966:p.Phe452Leu					USP13_uc003fkf.2_Missense_Mutation_p.F452L	p.F452L	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		11	1437	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		452					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1356C>G	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.190050	0.38707	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.70045	-0.45;-0.45;-0.45	5.65	5.65	0.86999	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.056216	0.64402	D	0.000001	T	0.40372	0.1114	N	0.03224	-0.385	0.58432	D	0.999993	B;B	0.14012	0.006;0.009	B;B	0.25405	0.028;0.06	T	0.40942	-0.9536	10	0.02654	T	1	-14.6808	12.9876	0.58599	0.0:0.9261:0.0:0.0739	.	452;452	Q92995;A8K2S3	UBP13_HUMAN;.	L	452;387;98	ENSP00000263966:F452L;ENSP00000417146:F387L;ENSP00000420057:F98L	ENSP00000263966:F452L	F	+	3	2	USP13	180940830	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	4.045000	0.57368	2.667000	0.90743	0.655000	0.94253	TTC		PASS	0.542	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			48	103	48	103	---	---	---	---
CPZ	8532	broad.mit.edu	37	4	8613819	8613819	+	Silent	SNP	T	T	C	rs573953659		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:8613819T>C	ENST00000360986.4	+	8	1467	c.1293T>C	c.(1291-1293)aaT>aaC	p.N431N	CPZ_ENST00000315782.6_Silent_p.N420N|CPZ_ENST00000382480.2_Silent_p.N294N|CPZ_ENST00000429646.2_Silent_p.N39N	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	431					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.N431N(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						GGTCGGAGAATAGGTGTGGAG	0.582													T|||	1	0.000199681	0.0	0.0	5008	,	,		12643	0.001		0.0	False		,,,				2504	0.0					uc003glm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(1291-1293)AAT>AAC		carboxypeptidase Z isoform 1							68.0	60.0	63.0					4																	8613819		2203	4298	6501	SO:0001819	synonymous_variant	8532				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	g.chr4:8613819T>C	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.1293T>C	4.37:g.8613819T>C						CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Silent_p.N294N|CPZ_uc003glo.2_Silent_p.N420N|CPZ_uc003glp.2_RNA	p.N431N	NM_001014447	NP_001014447	Q66K79	CBPZ_HUMAN			8	1419	+			431					O00520|Q96MX2	Silent	SNP	ENST00000360986.4	37	c.1293T>C	CCDS33953.1																																																																																				PASS	0.582	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4	NM_003652		20	18	20	18	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20598065	20598065	+	Silent	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:20598065C>G	ENST00000504154.1	+	32	3600	c.3348C>G	c.(3346-3348)ccC>ccG	p.P1116P	SLIT2_ENST00000503837.1_Silent_p.P1112P|SLIT2_ENST00000503823.1_Silent_p.P1108P|SLIT2_ENST00000273739.5_Silent_p.P1129P	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1116					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.P1116P(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTCTCCACCCATGGTCCTCC	0.393																																						uc003gpr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3346-3348)CCC>CCG		slit homolog 2 precursor							84.0	87.0	86.0					4																	20598065		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20598065C>G	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3348C>G	4.37:g.20598065C>G						SLIT2_uc003gps.1_Silent_p.P1108P	p.P1116P	NM_004787	NP_004778	O94813	SLIT2_HUMAN			32	3552	+			1116					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.3348C>G	CCDS3426.1																																																																																				PASS	0.393	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			31	35	31	35	---	---	---	---
SHISA3	152573	broad.mit.edu	37	4	42403061	42403061	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:42403061T>A	ENST00000319234.4	+	2	528	c.310T>A	c.(310-312)Tcc>Acc	p.S104T		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	104					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S104T(1)		endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CATCGTCGGCTCCATCTTCAT	0.498																																						uc003gwp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(310-312)TCC>ACC		shisa homolog 3 precursor							208.0	208.0	208.0					4																	42403061		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403061T>A	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.310T>A	4.37:g.42403061T>A	ENSP00000326445:p.Ser104Thr						p.S104T	NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN			2	528	+			104			Helical; (Potential).		A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.310T>A	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699673	0.68501	.	.	ENSG00000178343	ENST00000319234	T	0.42513	0.97	4.94	4.94	0.65067	.	0.112956	0.64402	D	0.000014	T	0.61223	0.2330	M	0.69823	2.125	0.48087	D	0.99958	D	0.65815	0.995	D	0.67103	0.949	T	0.61787	-0.6991	10	0.40728	T	0.16	-4.8848	14.4348	0.67274	0.0:0.0:0.0:1.0	.	104	A0PJX4	SHSA3_HUMAN	T	104	ENSP00000326445:S104T	ENSP00000326445:S104T	S	+	1	0	SHISA3	42097818	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.908000	0.63307	2.088000	0.63022	0.533000	0.62120	TCC		PASS	0.498	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		84	75	84	75	---	---	---	---
CWH43	80157	broad.mit.edu	37	4	49040053	49040053	+	Splice_Site	SNP	A	A	T	rs371357170		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:49040053A>T	ENST00000226432.4	+	13	1842	c.1659A>T	c.(1657-1659)gaA>gaT	p.E553D	CWH43_ENST00000513409.1_Splice_Site_p.E526D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	553					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)		p.E553D(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CATTTTTTAGAGATGACCTCG	0.348																																						uc003gyv.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1657-1659)GAA>GAT		cell wall biogenesis 43 C-terminal homolog		A	ASP/GLU	0,4406		0,0,2203	104.0	108.0	107.0		1659	3.9	1.0	4		107	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	CWH43	NM_025087.2	45	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging	553/700	49040053	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49040053A>T		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1659-1A>T	4.37:g.49040053A>T						CWH43_uc011bzl.1_Missense_Mutation_p.E526D	p.E553D	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN			13	1841	+			553					B2RPD7	Missense_Mutation	SNP	ENST00000226432.4	37	c.1659A>T	CCDS3486.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065385	0.55432	0.0	1.16E-4	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.80566	-1.39;-1.39	3.93	3.93	0.45458	Endonuclease/exonuclease/phosphatase (1);	0.000000	0.64402	D	0.000006	T	0.79399	0.4439	M	0.68952	2.095	0.41048	D	0.98528	P	0.46142	0.873	B	0.44044	0.439	T	0.80450	-0.1377	9	.	.	.	.	12.0342	0.53415	1.0:0.0:0.0:0.0	.	553	Q9H720	PG2IP_HUMAN	D	553;526	ENSP00000226432:E553D;ENSP00000422802:E526D	.	E	+	3	2	CWH43	48734810	1.000000	0.71417	1.000000	0.80357	0.507000	0.33981	0.869000	0.27996	2.014000	0.59158	0.454000	0.30748	GAA		PASS	0.348	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	NM_025087	Missense_Mutation	97	79	97	79	---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72338609	72338609	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:72338609G>C	ENST00000264485.5	+	14	1942	c.1825G>C	c.(1825-1827)Gat>Cat	p.D609H	SLC4A4_ENST00000425175.1_Missense_Mutation_p.D609H|SLC4A4_ENST00000351898.6_Missense_Mutation_p.D609H|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Missense_Mutation_p.D565H|SLC4A4_ENST00000512686.1_Missense_Mutation_p.D565H	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	609					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.D609H(1)|p.D565H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CAAGCTTGCAGATTACTACCC	0.453																																						uc003hfy.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|kidney(1)|skin(1)	5						c.(1825-1827)GAT>CAT		solute carrier family 4, sodium bicarbonate							143.0	143.0	143.0					4																	72338609		2203	4300	6503	SO:0001583	missense	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338609G>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1825G>C	4.37:g.72338609G>C	ENSP00000264485:p.Asp609His					SLC4A4_uc010iic.2_Missense_Mutation_p.D609H|SLC4A4_uc010iib.2_Missense_Mutation_p.D609H|SLC4A4_uc003hfz.2_Missense_Mutation_p.D609H|SLC4A4_uc003hgc.3_Missense_Mutation_p.D565H|SLC4A4_uc010iid.2_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.D487H|SLC4A4_uc003hgb.3_Missense_Mutation_p.D565H	p.D609H	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		14	1942	+			609			Extracellular (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	ENST00000264485.5	37	c.1825G>C	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243030	0.22796	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24	5.44	4.6	0.57074	Bicarbonate transporter, C-terminal (1);	0.044194	0.85682	D	0.000000	T	0.54581	0.1867	N	0.02247	-0.625	0.54753	D	0.999981	B;B;B;B;B;B	0.26512	0.001;0.151;0.0;0.008;0.001;0.0	B;B;B;B;B;B	0.22386	0.004;0.039;0.002;0.027;0.004;0.004	T	0.51826	-0.8656	10	0.20046	T	0.44	.	16.3508	0.83204	0.0:0.1321:0.8679:0.0	.	609;609;565;565;589;609	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	H	609;609;609;565;565	ENSP00000264485:D609H;ENSP00000393557:D609H;ENSP00000307349:D609H;ENSP00000422400:D565H;ENSP00000344272:D565H	ENSP00000264485:D609H	D	+	1	0	SLC4A4	72557473	0.987000	0.35691	0.997000	0.53966	0.963000	0.63663	2.186000	0.42593	1.294000	0.44707	-0.150000	0.13652	GAT		PASS	0.453	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		67	70	67	70	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83778278	83778278	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:83778278C>T	ENST00000395310.2	-	16	1890	c.1708G>A	c.(1708-1710)Gat>Aat	p.D570N	SEC31A_ENST00000355196.2_Missense_Mutation_p.D570N|SEC31A_ENST00000505472.1_Missense_Mutation_p.D570N|SEC31A_ENST00000500777.2_Missense_Mutation_p.D531N|SEC31A_ENST00000432794.1_Missense_Mutation_p.D570N|SEC31A_ENST00000448323.1_Missense_Mutation_p.D570N|SEC31A_ENST00000508502.1_Missense_Mutation_p.D570N|SEC31A_ENST00000513858.1_Missense_Mutation_p.D531N|SEC31A_ENST00000509142.1_Missense_Mutation_p.D570N|SEC31A_ENST00000505984.1_Missense_Mutation_p.D531N|SEC31A_ENST00000264405.5_Missense_Mutation_p.D303N|SEC31A_ENST00000311785.7_Missense_Mutation_p.D570N|SEC31A_ENST00000326950.5_Missense_Mutation_p.D531N|SEC31A_ENST00000348405.4_Missense_Mutation_p.D531N|SEC31A_ENST00000443462.2_Missense_Mutation_p.D565N|SEC31A_ENST00000508479.1_Missense_Mutation_p.D570N	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	570					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.D570N(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				ATTAAACCATCAATGTCTGCA	0.343																																						uc003hnf.2																		SEC31A/JAK2(4)|SEC31A/ALK(3)	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(1708-1710)GAT>AAT		SEC31 homolog A isoform 1							50.0	47.0	48.0					4																	83778278		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83778278C>T	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1708G>A	4.37:g.83778278C>T	ENSP00000378721:p.Asp570Asn					SEC31A_uc003hne.2_Missense_Mutation_p.D303N|SEC31A_uc011ccl.1_Missense_Mutation_p.D531N|SEC31A_uc003hnl.2_Missense_Mutation_p.D531N|SEC31A_uc003hng.2_Missense_Mutation_p.D570N|SEC31A_uc003hnh.2_Missense_Mutation_p.D570N|SEC31A_uc003hni.2_Missense_Mutation_p.D570N|SEC31A_uc003hnj.2_Missense_Mutation_p.D531N|SEC31A_uc011ccm.1_Missense_Mutation_p.D565N|SEC31A_uc011ccn.1_Missense_Mutation_p.D570N|SEC31A_uc003hnk.2_Missense_Mutation_p.D531N|SEC31A_uc003hnm.2_Missense_Mutation_p.D570N|SEC31A_uc003hnn.1_Missense_Mutation_p.D570N	p.D570N	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			16	1872	-		Hepatocellular(203;0.114)	570					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.1708G>A	CCDS3596.1	.	.	.	.	.	.	.	.	.	.	C	35	5.525396	0.96431	.	.	ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59364	0.35;0.27;1.8;1.74;0.67;1.73;1.8;0.35;0.67;0.64;0.27;1.74;1.8;2.34;1.33;1.83;1.81	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	N	0.24115	0.695	0.80722	D	1	D;D;D;P;D;D;D;P;D	0.89917	0.99;1.0;1.0;0.926;0.979;0.997;0.999;0.931;0.966	D;D;D;P;P;D;D;P;D	0.91635	0.925;0.982;0.999;0.882;0.771;0.95;0.998;0.766;0.91	T	0.70510	-0.4852	10	0.87932	D	0	-22.1319	20.1649	0.98147	0.0:1.0:0.0:0.0	.	565;531;570;531;531;570;570;570;303	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.;.;.;.;.;.;.;SC31A_HUMAN;.	N	531;531;570;565;570;570;570;531;570;570;531;570;570;303;531;570;158	ENSP00000337602:D531N;ENSP00000426886:D531N;ENSP00000378721:D570N;ENSP00000408027:D565N;ENSP00000426569:D570N;ENSP00000407944:D570N;ENSP00000400926:D570N;ENSP00000325087:D531N;ENSP00000309070:D570N;ENSP00000421633:D570N;ENSP00000421464:D531N;ENSP00000424635:D570N;ENSP00000347329:D570N;ENSP00000264405:D303N;ENSP00000424451:D531N;ENSP00000425999:D570N;ENSP00000422267:D158N	ENSP00000264405:D303N	D	-	1	0	SEC31A	83997302	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.753000	0.94483	0.655000	0.94253	GAT		PASS	0.343	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		20	19	20	19	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88973290	88973290	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:88973290G>T	ENST00000237596.2	+	7	1762	c.1696G>T	c.(1696-1698)Gta>Tta	p.V566L	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000508588.1_5'UTR	NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.V566L(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGCTGTCACAGTATTTTTTGT	0.313																																						uc003hre.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1696-1698)GTA>TTA		polycystin 2							86.0	84.0	85.0					4																	88973290		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88973290G>T	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.1696G>T	4.37:g.88973290G>T	ENSP00000237596:p.Val566Leu					PKD2_uc011cdf.1_5'UTR|PKD2_uc011cdg.1_5'UTR|PKD2_uc011cdh.1_5'UTR	p.V566L	NM_000297	NP_000288	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	7	1762	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	566			Helical; (Potential).		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000237596.2	37	c.1696G>T	CCDS3627.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614504	0.46631	.	.	ENSG00000118762	ENST00000237596	T	0.69561	-0.41	5.23	5.23	0.72850	Polycystin cation channel, PKD1/PKD2 (1);	0.000000	0.85682	D	0.000000	T	0.61702	0.2368	L	0.40543	1.245	0.80722	D	1	B	0.30361	0.277	B	0.39590	0.304	T	0.55952	-0.8059	10	0.19590	T	0.45	-17.0758	13.4957	0.61424	0.0749:0.0:0.9251:0.0	.	566	Q13563	PKD2_HUMAN	L	566	ENSP00000237596:V566L	ENSP00000237596:V566L	V	+	1	0	PKD2	89192314	1.000000	0.71417	0.848000	0.33437	0.448000	0.32197	6.437000	0.73421	2.596000	0.87737	0.655000	0.94253	GTA		PASS	0.313	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253042.4	NM_000297		47	45	47	45	---	---	---	---
PDHA2	5161	broad.mit.edu	37	4	96761453	96761453	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:96761453C>A	ENST00000295266.4	+	1	215	c.152C>A	c.(151-153)aCt>aAt	p.T51N		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	51					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)	p.T51N(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		CCCCCTGTCACTACAGTGCTC	0.478																																						uc003htr.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(151-153)ACT>AAT		pyruvate dehydrogenase E1 alpha 2 precursor	NADH(DB00157)						62.0	60.0	61.0					4																	96761453		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96761453C>A		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.152C>A	4.37:g.96761453C>A	ENSP00000295266:p.Thr51Asn						p.T51N	NM_005390	NP_005381	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	215	+		Hepatocellular(203;0.114)	51					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.152C>A	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	C	9.079	0.998940	0.19121	.	.	ENSG00000163114	ENST00000295266	D	0.97378	-4.36	4.64	3.79	0.43588	.	0.447606	0.22363	N	0.061056	D	0.93245	0.7848	L	0.48642	1.525	0.09310	N	1	B	0.29301	0.241	B	0.23018	0.043	D	0.85382	0.1120	10	0.27082	T	0.32	-3.1784	8.0363	0.30495	0.1816:0.6428:0.1756:0.0	.	51	P29803	ODPAT_HUMAN	N	51	ENSP00000295266:T51N	ENSP00000295266:T51N	T	+	2	0	PDHA2	96980476	0.002000	0.14202	0.003000	0.11579	0.104000	0.19210	1.706000	0.37878	1.303000	0.44873	0.467000	0.42956	ACT		PASS	0.478	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			17	22	17	22	---	---	---	---
DAPP1	27071	broad.mit.edu	37	4	100784938	100784938	+	Silent	SNP	A	A	G	rs577479651		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:100784938A>G	ENST00000512369.1	+	7	680	c.612A>G	c.(610-612)ccA>ccG	p.P204P	DAPP1_ENST00000296414.7_Silent_p.P204P	NM_014395.2	NP_055210.2	Q9UN19	DAPP1_HUMAN	dual adaptor of phosphotyrosine and 3-phosphoinositides	204	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phospholipid binding (GO:0005543)	p.P204P(2)		endometrium(1)|kidney(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)		CACCAGAACCAATTCGGATCC	0.323																																						uc003hvf.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(610-612)CCA>CCG		dual adaptor of phosphotyrosine and							76.0	72.0	73.0					4																	100784938		1810	4070	5880	SO:0001819	synonymous_variant	27071				signal transduction	cytoplasm|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity	g.chr4:100784938A>G	AF186022	CCDS47112.1	4q25-q27	2013-02-14			ENSG00000070190	ENSG00000070190		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	16500	protein-coding gene	gene with protein product		605768				10432293	Standard	NM_014395		Approved	BAM32	uc003hvf.4	Q9UN19	OTTHUMG00000160974	ENST00000512369.1:c.612A>G	4.37:g.100784938A>G						DAPP1_uc011cek.1_3'UTR|DAPP1_uc010ilh.2_Silent_p.P204P	p.P204P	NM_014395	NP_055210	Q9UN19	DAPP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.04e-09)	7	702	+			204			PH.		Q8TCK5|Q9UHF2	Silent	SNP	ENST00000512369.1	37	c.612A>G	CCDS47112.1																																																																																				PASS	0.323	DAPP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363215.1			9	6	9	6	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153244198	153244198	+	Silent	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:153244198C>G	ENST00000281708.4	-	12	3188	c.1959G>C	c.(1957-1959)acG>acC	p.T653T	FBXW7_ENST00000296555.5_Silent_p.T535T|FBXW7_ENST00000603548.1_Silent_p.T653T|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000263981.5_Silent_p.T573T|FBXW7_ENST00000603841.1_Silent_p.T653T|FBXW7_ENST00000393956.3_Silent_p.T477T	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	653					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.T653T(2)|p.T573T(1)|p.T414T(1)|p.T535T(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TAAATTCACCCGTTTTCAAGT	0.463			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2				Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - coding silent(5)|Unknown(1)	p.T653fs*8(1)	lung(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1957-1959)ACG>ACC		F-box and WD repeat domain containing 7 isoform							161.0	157.0	158.0					4																	153244198		2203	4300	6503	SO:0001819	synonymous_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153244198C>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1959G>C	4.37:g.153244198C>G						FBXW7_uc011cii.1_Silent_p.T653T|FBXW7_uc003imt.2_Silent_p.T653T|FBXW7_uc011cih.1_Silent_p.T477T|FBXW7_uc003imq.2_Silent_p.T573T|FBXW7_uc003imr.2_Silent_p.T535T	p.T653T	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			12	2108	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	653			WD 7.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	c.1959G>C	CCDS3777.1																																																																																				PASS	0.463	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			53	67	53	67	---	---	---	---
FGG	2266	broad.mit.edu	37	4	155530895	155530895	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:155530895T>A	ENST00000336098.3	-	6	591	c.553A>T	c.(553-555)Aag>Tag	p.K185*	FGG_ENST00000404648.3_Nonsense_Mutation_p.K185*|FGG_ENST00000407946.1_Nonsense_Mutation_p.K193*|FGG_ENST00000405164.1_Nonsense_Mutation_p.K193*	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	185	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)	p.K185*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTAGCTCCCTTATTGGCAATG	0.403																																						uc003ioj.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(553-555)AAG>TAG		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						101.0	98.0	99.0					4																	155530895		2203	4300	6503	SO:0001587	stop_gained	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155530895T>A		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.553A>T	4.37:g.155530895T>A	ENSP00000336829:p.Lys185*					FGG_uc003iog.2_Nonsense_Mutation_p.K185*|FGG_uc003ioh.2_Nonsense_Mutation_p.K193*|FGG_uc010ipx.2_Nonsense_Mutation_p.K13*|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Nonsense_Mutation_p.K193*	p.K185*	NM_021870	NP_068656	P02679	FIBG_HUMAN			6	694	-	all_hematologic(180;0.215)	Renal(120;0.0458)	185			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Nonsense_Mutation	SNP	ENST00000336098.3	37	c.553A>T	CCDS3788.1	.	.	.	.	.	.	.	.	.	.	T	34	5.299746	0.95574	.	.	ENSG00000171557	ENST00000404648;ENST00000405164;ENST00000336098;ENST00000407946;ENST00000443553;ENST00000393846	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0202	0.71624	0.0:0.0:0.0:1.0	.	.	.	.	X	185;193;185;193;82;82	.	ENSP00000336829:K185X	K	-	1	0	FGG	155750345	1.000000	0.71417	0.999000	0.59377	0.739000	0.42172	7.774000	0.85478	2.075000	0.62263	0.459000	0.35465	AAG		PASS	0.403	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		42	43	42	43	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162376272	162376272	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:162376272G>T	ENST00000306100.5	-	15	2161	c.1725C>A	c.(1723-1725)acC>acA	p.T575T	FSTL5_ENST00000536695.1_Silent_p.T574T|FSTL5_ENST00000379164.4_Silent_p.T574T|FSTL5_ENST00000427802.2_Silent_p.T565T	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	575						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.T575T(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CACTGGCCAGGGTAATTACCT	0.408																																						uc003iqh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1723-1725)ACC>ACA		follistatin-like 5 isoform a							128.0	101.0	110.0					4																	162376272		2203	4300	6503	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162376272G>T	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1725C>A	4.37:g.162376272G>T						FSTL5_uc003iqi.2_Silent_p.T574T|FSTL5_uc010iqv.2_Silent_p.T565T	p.T575T	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	15	2161	-	all_hematologic(180;0.24)		575					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.1725C>A	CCDS3802.1																																																																																				PASS	0.408	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		24	20	24	20	---	---	---	---
SPOCK3	50859	broad.mit.edu	37	4	167833857	167833857	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:167833857C>A	ENST00000357154.3	-	6	534	c.397G>T	c.(397-399)Ggt>Tgt	p.G133C	SPOCK3_ENST00000504953.1_Missense_Mutation_p.G130C|SPOCK3_ENST00000510741.1_Missense_Mutation_p.G130C|SPOCK3_ENST00000421836.2_Missense_Mutation_p.G82C|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Missense_Mutation_p.G130C|SPOCK3_ENST00000502330.1_Missense_Mutation_p.G133C|SPOCK3_ENST00000534949.1_Missense_Mutation_p.G37C|SPOCK3_ENST00000535728.1_Missense_Mutation_p.G41C|SPOCK3_ENST00000506886.1_Missense_Mutation_p.G133C|SPOCK3_ENST00000541354.1_Missense_Mutation_p.G13C|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000512648.1_Missense_Mutation_p.G130C|SPOCK3_ENST00000511269.1_Missense_Mutation_p.G130C|SPOCK3_ENST00000511531.1_Missense_Mutation_p.G133C|SPOCK3_ENST00000512681.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	133	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)	p.G130C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AATATGGGACCCCTCCACTGC	0.403																																						uc003iri.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(397-399)GGT>TGT		testican 3 isoform 2							126.0	122.0	123.0					4																	167833857		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167833857C>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.397G>T	4.37:g.167833857C>A	ENSP00000349677:p.Gly133Cys					SPOCK3_uc011cjp.1_Missense_Mutation_p.G130C|SPOCK3_uc011cjq.1_Missense_Mutation_p.G142C|SPOCK3_uc011cjr.1_Missense_Mutation_p.G13C|SPOCK3_uc003irj.1_Missense_Mutation_p.G130C|SPOCK3_uc011cjs.1_Missense_Mutation_p.G82C|SPOCK3_uc011cjt.1_Missense_Mutation_p.G41C|SPOCK3_uc011cju.1_Missense_Mutation_p.G26C|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.3_Missense_Mutation_p.G130C|SPOCK3_uc011cjw.1_Intron	p.G133C	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	6	538	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	133			Kazal-like.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.397G>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.154155	0.38021	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000534949;ENST00000512648;ENST00000509854	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.12	3.29	0.37713	.	0.759675	0.13150	N	0.409922	T	0.49779	0.1577	M	0.72479	2.2	0.27294	N	0.957779	D;P;D;D;D;D;D	0.71674	0.997;0.95;0.992;0.99;0.966;0.998;0.99	P;P;P;P;P;D;P	0.63113	0.784;0.592;0.808;0.751;0.58;0.911;0.671	T	0.38156	-0.9674	10	0.87932	D	0	-10.3549	9.6892	0.40118	0.0:0.8173:0.0:0.1827	.	37;82;142;130;133;130;133	F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-2;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	C	133;130;130;133;133;133;130;13;130;41;82;37;130;130	ENSP00000349677:G133C;ENSP00000350153:G130C;ENSP00000425570:G130C;ENSP00000420920:G133C;ENSP00000423421:G133C;ENSP00000423606:G133C;ENSP00000426716:G130C;ENSP00000444789:G13C;ENSP00000425502:G130C;ENSP00000441396:G41C;ENSP00000411344:G82C;ENSP00000438142:G37C;ENSP00000426177:G130C;ENSP00000423367:G130C	ENSP00000349677:G133C	G	-	1	0	SPOCK3	168070432	0.993000	0.37304	0.503000	0.27626	0.079000	0.17450	1.126000	0.31344	0.582000	0.29556	0.643000	0.83706	GGT		PASS	0.403	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			23	38	23	38	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012776	189012776	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:189012776G>C	ENST00000512729.1	-	7	1289	c.915C>G	c.(913-915)ttC>ttG	p.F305L	TRIML2_ENST00000326754.3_Missense_Mutation_p.F330L	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	305	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.F305L(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		TCAGAGGGGGGAAGACCCAGA	0.562																																						uc003izl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(913-915)TTC>TTG		tripartite motif family-like 2							131.0	148.0	142.0					4																	189012776		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012776G>C	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.915C>G	4.37:g.189012776G>C	ENSP00000422581:p.Phe305Leu					TRIML2_uc003izj.1_Missense_Mutation_p.F133L|TRIML2_uc003izk.1_Missense_Mutation_p.F113L|TRIML2_uc011cle.1_Missense_Mutation_p.F380L	p.F305L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	951	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	305			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.915C>G	CCDS3850.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011002	0.35511	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.60548	0.18;0.18	5.64	-5.12	0.02893	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.437819	0.20025	N	0.100829	T	0.49643	0.1569	M	0.63428	1.95	0.09310	N	1	P;P	0.49185	0.92;0.92	P;P	0.47603	0.551;0.473	T	0.53143	-0.8480	10	0.21014	T	0.42	.	8.468	0.32969	0.3356:0.0:0.5341:0.1303	.	330;305	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	L	305;330	ENSP00000422581:F305L;ENSP00000317498:F330L	ENSP00000317498:F330L	F	-	3	2	TRIML2	189249770	0.000000	0.05858	0.382000	0.26119	0.076000	0.17211	-0.656000	0.05342	-0.684000	0.05183	-1.202000	0.01658	TTC		PASS	0.562	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		94	102	94	102	---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189012862	189012862	+	Missense_Mutation	SNP	C	C	T	rs182435898		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr4:189012862C>T	ENST00000512729.1	-	7	1203	c.829G>A	c.(829-831)Gcg>Acg	p.A277T	TRIML2_ENST00000326754.3_Missense_Mutation_p.A302T	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	277	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.A277S(1)|p.A277T(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGCCCTTCGCGTCTGCAGAG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18629	0.001		0.0	False		,,,				2504	0.0					uc003izl.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(829-831)GCG>ACG		tripartite motif family-like 2							165.0	166.0	166.0					4																	189012862		2203	4300	6503	SO:0001583	missense	205860						ligase activity	g.chr4:189012862C>T	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.829G>A	4.37:g.189012862C>T	ENSP00000422581:p.Ala277Thr					TRIML2_uc003izj.1_Missense_Mutation_p.A105T|TRIML2_uc003izk.1_Missense_Mutation_p.A85T|TRIML2_uc011cle.1_Missense_Mutation_p.A352T	p.A277T	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	7	865	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	277			B30.2/SPRY.		B7Z6J6	Missense_Mutation	SNP	ENST00000512729.1	37	c.829G>A	CCDS3850.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.91	1.779179	0.31502	.	.	ENSG00000179046	ENST00000512729;ENST00000326754	T;T	0.60797	0.16;0.16	5.85	-1.02	0.10135	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	1.937130	0.02117	N	0.055298	T	0.35219	0.0924	N	0.04090	-0.28	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.26985	-1.0087	10	0.48119	T	0.1	.	6.3987	0.21626	0.0:0.2684:0.1258:0.6057	.	302;277	B7ZLC3;Q8N7C3	.;TRIMM_HUMAN	T	277;302	ENSP00000422581:A277T;ENSP00000317498:A302T	ENSP00000317498:A302T	A	-	1	0	TRIML2	189249856	0.014000	0.17966	0.000000	0.03702	0.001000	0.01503	1.697000	0.37784	-0.279000	0.09167	-0.294000	0.09567	GCG		PASS	0.617	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553		89	118	89	118	---	---	---	---
SDHA	6389	broad.mit.edu	37	5	231090	231090	+	Silent	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:231090A>C	ENST00000264932.6	+	7	985	c.870A>C	c.(868-870)ctA>ctC	p.L290L	SDHA_ENST00000510361.1_Silent_p.L242L|SDHA_ENST00000504309.1_Silent_p.L290L	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	290					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.L290L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GCCAGGACCTAGAGTTTGTTC	0.592									Familial Paragangliomas																													uc003jao.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(868-870)CTA>CTC		succinate dehydrogenase complex, subunit A,	Succinic acid(DB00139)						58.0	47.0	50.0					5																	231090		2203	4300	6503	SO:0001819	synonymous_variant	6389	Familial_Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:231090A>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.870A>C	5.37:g.231090A>C						SDHA_uc003jan.2_Silent_p.L290L|SDHA_uc011clv.1_Silent_p.L290L|SDHA_uc011clw.1_Silent_p.L242L|SDHA_uc003jap.3_Silent_p.L290L|SDHA_uc003jaq.3_Silent_p.L65L|SDHA_uc003jar.3_5'UTR	p.L290L	NM_004168	NP_004159	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		7	985	+			290					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Silent	SNP	ENST00000264932.6	37	c.870A>C	CCDS3853.1																																																																																				PASS	0.592	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168		3	81	3	81	---	---	---	---
EXOC3	11336	broad.mit.edu	37	5	453949	453949	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:453949C>T	ENST00000512944.1	+	4	1018	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	EXOC3_ENST00000315013.5_Missense_Mutation_p.R277C	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	288					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|secretory granule membrane (GO:0030667)		p.R277C(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGCTTGTCCGCCACCTGGA	0.473																																						uc003jba.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)CGC>TGC		Sec6 protein							55.0	57.0	56.0					5																	453949		1970	4152	6122	SO:0001583	missense	11336				exocytosis|protein transport			g.chr5:453949C>T	BC034427	CCDS54830.1	5p15.33	2013-01-22	2005-11-01	2005-11-01	ENSG00000180104	ENSG00000180104			30378	protein-coding gene	gene with protein product		608186	"""SEC6-like 1 (S. cerevisiae)"""	SEC6L1		8619474	Standard	XM_005248238		Approved	Sec6p	uc003jba.3	O60645	OTTHUMG00000162205	ENST00000512944.1:c.829C>T	5.37:g.453949C>T	ENSP00000425587:p.Arg277Cys						p.R277C	NM_007277	NP_009208	O60645	EXOC3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		4	957	+		Ovarian(839;0.0563)	288					Q6P2E8|Q8TEN6|Q8WUW0|Q96DI4	Missense_Mutation	SNP	ENST00000512944.1	37	c.829C>T	CCDS54830.1	.	.	.	.	.	.	.	.	.	.	C	8.718	0.913747	0.17907	.	.	ENSG00000180104	ENST00000512944;ENST00000315013;ENST00000340158	T;T	0.07688	3.17;3.17	5.8	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.18882	0.0453	M	0.79693	2.465	0.80722	D	1	P	0.47191	0.891	P	0.47102	0.537	T	0.01238	-1.1409	10	0.59425	D	0.04	-10.2029	12.7708	0.57419	0.0:0.9206:0.0:0.0794	.	288	O60645	EXOC3_HUMAN	C	277;277;287	ENSP00000425587:R277C;ENSP00000323377:R277C	ENSP00000323377:R277C	R	+	1	0	EXOC3	506949	1.000000	0.71417	0.917000	0.36280	0.897000	0.52465	3.722000	0.54948	1.458000	0.47871	0.462000	0.41574	CGC		PASS	0.473	EXOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367882.1	NM_007277		5	41	5	41	---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1084028	1084028	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:1084028C>G	ENST00000264930.5	-	8	1004	c.961G>C	c.(961-963)Gat>Cat	p.D321H		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	321					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.D321H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ACGCAGGCATCGAAGCTGCGC	0.672																																						uc003jbu.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(961-963)GAT>CAT		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						76.0	68.0	71.0					5																	1084028		2201	4300	6501	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1084028C>G	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.961G>C	5.37:g.1084028C>G	ENSP00000264930:p.Asp321His						p.D321H	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1027	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		321					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.961G>C	CCDS34129.1	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419635	0.42918	.	.	ENSG00000113504	ENST00000264930	T	0.67523	-0.27	3.68	2.77	0.32553	.	0.233285	0.42682	D	0.000670	T	0.66896	0.2836	M	0.84683	2.71	0.48830	D	0.999717	B	0.26002	0.139	B	0.24974	0.057	T	0.71553	-0.4558	10	0.62326	D	0.03	.	9.4896	0.38951	0.0:0.8887:0.0:0.1113	.	321	Q9Y666	S12A7_HUMAN	H	321	ENSP00000264930:D321H	ENSP00000264930:D321H	D	-	1	0	SLC12A7	1137028	0.611000	0.26992	0.021000	0.16686	0.016000	0.09150	1.660000	0.37397	1.768000	0.52137	0.478000	0.44815	GAT		PASS	0.672	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		17	52	17	52	---	---	---	---
ICE1	23379	broad.mit.edu	37	5	5462757	5462757	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:5462757G>T	ENST00000296564.7	+	13	3532	c.3310G>T	c.(3310-3312)Gga>Tga	p.G1104*		NM_015325.2	NP_056140.1	Q9Y2F5	ICE1_HUMAN		1104					positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	protein homodimerization activity (GO:0042803)	p.G1104*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCGAGAGGGGGGAGACGACAC	0.478																																						uc003jdm.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3310-3312)GGA>TGA		hypothetical protein LOC23379							60.0	62.0	61.0					5																	5462757		2017	4175	6192	SO:0001587	stop_gained	23379							g.chr5:5462757G>T																												ENST00000296564.7:c.3310G>T	5.37:g.5462757G>T	ENSP00000296564:p.Gly1104*						p.G1104*	NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN			13	3532	+			1104					Q68DE1|Q6ZT40|Q7L587|Q7Z3A9|Q9NTH9	Nonsense_Mutation	SNP	ENST00000296564.7	37	c.3310G>T	CCDS47187.1	.	.	.	.	.	.	.	.	.	.	g	40	8.351218	0.98772	.	.	ENSG00000164151	ENST00000296564	.	.	.	5.03	-2.67	0.06059	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-0.0393	6.4006	0.21636	0.2645:0.3835:0.352:0.0	.	.	.	.	X	1104	.	ENSP00000296564:G1104X	G	+	1	0	KIAA0947	5515757	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.593000	0.05740	-0.430000	0.07318	0.306000	0.20318	GGA		PASS	0.478	KIAA0947-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365575.1			20	54	20	54	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10405769	10405769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:10405769C>T	ENST00000274140.5	+	16	1564	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*	MARCH6_ENST00000449913.2_Nonsense_Mutation_p.R430*|MARCH6_ENST00000510792.1_Nonsense_Mutation_p.R176*|MARCH6_ENST00000503788.1_Nonsense_Mutation_p.R373*	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	478					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.R478*(1)|p.R478R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TAGGCATCTCCGAAGATTTAT	0.338																																						uc003jet.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)|breast(1)	2						c.(1432-1434)CGA>TGA		membrane-associated ring finger (C3HC4) 6							111.0	110.0	110.0					5																	10405769		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.chr5:10405769C>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.1432C>T	5.37:g.10405769C>T	ENSP00000274140:p.Arg478*					MARCH6_uc011cmu.1_Nonsense_Mutation_p.R430*|MARCH6_uc003jeu.1_Nonsense_Mutation_p.R176*|MARCH6_uc011cmv.1_Nonsense_Mutation_p.R373*	p.R478*	NM_005885	NP_005876	O60337	MARH6_HUMAN			16	1615	+			478			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Nonsense_Mutation	SNP	ENST00000274140.5	37	c.1432C>T	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	C	39	7.870463	0.98534	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	.	.	.	5.96	4.07	0.47477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5768	12.9096	0.58173	0.5037:0.4963:0.0:0.0	.	.	.	.	X	430;373;478;176	.	ENSP00000274140:R478X	R	+	1	2	MARCH6	10458769	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.755000	0.55197	1.514000	0.48869	-0.181000	0.13052	CGA		PASS	0.338	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		46	84	46	84	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11411671	11411671	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:11411671G>T	ENST00000304623.8	-	5	605	c.416C>A	c.(415-417)cCa>cAa	p.P139Q	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.P48Q|CTNND2_ENST00000511377.1_Missense_Mutation_p.P48Q|CTNND2_ENST00000359640.2_Missense_Mutation_p.P139Q	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	139					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.P139Q(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						ATAATCCTGTGGGTCAAGTAT	0.378																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(415-417)CCA>CAA		catenin (cadherin-associated protein), delta 2							150.0	141.0	144.0					5																	11411671		2203	4300	6503	SO:0001583	missense	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.chr5:11411671G>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.416C>A	5.37:g.11411671G>T	ENSP00000307134:p.Pro139Gln					CTNND2_uc010itt.2_Missense_Mutation_p.P48Q|CTNND2_uc011cmy.1_Missense_Mutation_p.P48Q|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA	p.P139Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			5	561	-			139					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.416C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.426924	0.62733	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000503622;ENST00000502551;ENST00000513598;ENST00000508761	T;T;T;T	0.78126	-1.05;-1.15;-1.08;-1.06	5.87	4.95	0.65309	Armadillo-like helical (1);	0.240774	0.35291	N	0.003314	T	0.67335	0.2882	L	0.28115	0.83	0.80722	D	1	P;B	0.41313	0.745;0.001	B;B	0.37346	0.247;0.002	T	0.73122	-0.4082	10	0.66056	D	0.02	-11.6157	15.8245	0.78686	0.0:0.0:0.8635:0.1365	.	48;139	B4DRK2;Q9UQB3	.;CTND2_HUMAN	Q	139;139;48;48;125;48;125	ENSP00000307134:P139Q;ENSP00000352661:P139Q;ENSP00000426510:P48Q;ENSP00000426887:P48Q	ENSP00000307134:P139Q	P	-	2	0	CTNND2	11464671	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.235000	0.78143	2.785000	0.95823	0.591000	0.81541	CCA		PASS	0.378	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		40	96	40	96	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24492935	24492935	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:24492935C>A	ENST00000264463.4	-	10	2122	c.1615G>T	c.(1615-1617)Gat>Tat	p.D539Y	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	539	Cadherin 5. {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.D539Y(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CCTTCATTATCCTGTACTGTG	0.338										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1615-1617)GAT>TAT		cadherin 10, type 2 preproprotein							153.0	164.0	160.0					5																	24492935		2203	4297	6500	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492935C>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1615G>T	5.37:g.24492935C>A	ENSP00000264463:p.Asp539Tyr	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.D539Y	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	1947	-			539			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.1615G>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347051	0.82022	.	.	ENSG00000040731	ENST00000264463	T	0.51574	0.7	5.04	5.04	0.67666	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78698	0.4324	H	0.95470	3.675	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.85628	0.1268	10	0.87932	D	0	.	17.7384	0.88401	0.0:1.0:0.0:0.0	.	539	Q9Y6N8	CAD10_HUMAN	Y	539	ENSP00000264463:D539Y	ENSP00000264463:D539Y	D	-	1	0	CDH10	24528692	1.000000	0.71417	0.993000	0.49108	0.939000	0.58152	7.776000	0.85560	2.506000	0.84524	0.585000	0.79938	GAT		PASS	0.338	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		56	149	56	149	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24593447	24593447	+	Silent	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:24593447A>G	ENST00000264463.4	-	2	660	c.153T>C	c.(151-153)cgT>cgC	p.R51R	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	51					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.R51R(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CACGTTTTTGACGATGGAGAA	0.393										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(151-153)CGT>CGC		cadherin 10, type 2 preproprotein							135.0	133.0	134.0					5																	24593447		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593447A>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.153T>C	5.37:g.24593447A>G		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.R51R	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	485	-			51					Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.153T>C	CCDS3892.1																																																																																				PASS	0.393	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		60	135	60	135	---	---	---	---
CDH6	1004	broad.mit.edu	37	5	31317884	31317884	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:31317884A>T	ENST00000265071.2	+	11	2000	c.1735A>T	c.(1735-1737)Agc>Tgc	p.S579C	CDH6_ENST00000514738.1_Missense_Mutation_p.S524C	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	579	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S579C(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CCCAGTTCAAAGCAGCACTGG	0.542																																						uc003jhe.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|large_intestine(1)	7						c.(1735-1737)AGC>TGC		cadherin 6, type 2 preproprotein							75.0	62.0	67.0					5																	31317884		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317884A>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1735A>T	5.37:g.31317884A>T	ENSP00000265071:p.Ser579Cys					CDH6_uc003jhd.1_Missense_Mutation_p.S579C	p.S579C	NM_004932	NP_004923	P55285	CADH6_HUMAN			11	2061	+			579			Extracellular (Potential).|Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1735A>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	26.3	4.727073	0.89390	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.56103	0.48;0.48	5.29	5.29	0.74685	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	H	0.97806	4.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89451	0.3730	10	0.87932	D	0	.	15.5353	0.75998	1.0:0.0:0.0:0.0	.	579;579	P55285;P55285-2	CADH6_HUMAN;.	C	524;579	ENSP00000424843:S524C;ENSP00000265071:S579C	ENSP00000265071:S579C	S	+	1	0	CDH6	31353641	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.287000	0.95975	2.123000	0.65237	0.533000	0.62120	AGC		PASS	0.542	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		20	51	20	51	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32390512	32390512	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:32390512T>C	ENST00000265069.8	-	12	2113	c.2011A>G	c.(2011-2013)Atg>Gtg	p.M671V		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	671					multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M671V(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCTTCCTCCATTCTCCTCCAG	0.463																																						uc003jhr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2011-2013)ATG>GTG		zinc finger RNA binding protein							143.0	138.0	140.0					5																	32390512		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32390512T>C	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2011A>G	5.37:g.32390512T>C	ENSP00000265069:p.Met671Val					ZFR_uc011cny.1_5'Flank	p.M671V	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	12	2091	-			671					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2011A>G	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845438	0.32606	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.04758	3.56	5.28	5.28	0.74379	.	0.035534	0.85682	D	0.000000	T	0.06645	0.0170	L	0.52364	1.645	0.52501	D	0.999958	B	0.02656	0.0	B	0.01281	0.0	T	0.29427	-1.0012	10	0.20046	T	0.44	.	15.2048	0.73169	0.0:0.0:0.0:1.0	.	671	Q96KR1	ZFR_HUMAN	V	671;649	ENSP00000265069:M671V	ENSP00000265069:M671V	M	-	1	0	ZFR	32426269	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.616000	0.61197	1.993000	0.58246	0.459000	0.35465	ATG		PASS	0.463	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			40	73	40	73	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33624345	33624345	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:33624345C>G	ENST00000504830.1	-	14	2469	c.2134G>C	c.(2134-2136)Gaa>Caa	p.E712Q	ADAMTS12_ENST00000352040.3_Intron|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	712	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E712Q(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCAGATCCTTCCTTCTGCTTA	0.448										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2134-2136)GAA>CAA		ADAM metallopeptidase with thrombospondin type 1							71.0	70.0	70.0					5																	33624345		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33624345C>G	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2134G>C	5.37:g.33624345C>G	ENSP00000422554:p.Glu712Gln	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Intron	p.E712Q	NM_030955	NP_112217	P58397	ATS12_HUMAN			14	2297	-			712			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2134G>C	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	c	34	5.339783	0.95783	.	.	ENSG00000151388	ENST00000504830	T	0.52057	0.68	5.86	5.86	0.93980	ADAM-TS Spacer 1 (1);	0.089923	0.85682	D	0.000000	T	0.65964	0.2742	M	0.69185	2.1	0.80722	D	1	D	0.58620	0.983	P	0.59221	0.854	T	0.63143	-0.6703	10	0.49607	T	0.09	.	20.5678	0.99360	0.0:1.0:0.0:0.0	.	712	P58397	ATS12_HUMAN	Q	712	ENSP00000422554:E712Q	ENSP00000422554:E712Q	E	-	1	0	ADAMTS12	33660102	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.697000	0.84279	2.937000	0.99478	0.651000	0.88453	GAA		PASS	0.448	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		35	81	35	81	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33637810	33637810	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:33637810C>A	ENST00000504830.1	-	12	2095	c.1760G>T	c.(1759-1761)cGc>cTc	p.R587L	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R587L|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	587	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R587L(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAAGCGATAGCGTTTTCTTTC	0.458										HNSCC(64;0.19)																												uc003jia.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(1759-1761)CGC>CTC		ADAM metallopeptidase with thrombospondin type 1							125.0	115.0	119.0					5																	33637810		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33637810C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1760G>T	5.37:g.33637810C>A	ENSP00000422554:p.Arg587Leu	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.R587L	p.R587L	NM_030955	NP_112217	P58397	ATS12_HUMAN			12	1923	-			587			TSP type-1 1.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.1760G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	35	5.554369	0.96501	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.06528	3.29;3.29	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	M	0.81341	2.54	0.80722	D	1	D;P	0.89917	1.0;0.935	D;P	0.91635	0.999;0.777	T	0.00150	-1.1986	10	0.42905	T	0.14	.	20.6397	0.99537	0.0:1.0:0.0:0.0	.	587;587	P58397-3;P58397	.;ATS12_HUMAN	L	587	ENSP00000422554:R587L;ENSP00000344847:R587L	ENSP00000344847:R587L	R	-	2	0	ADAMTS12	33673567	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.629000	0.83207	2.880000	0.98712	0.650000	0.86243	CGC		PASS	0.458	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		25	62	25	62	---	---	---	---
AMACR	23600	broad.mit.edu	37	5	34005954	34005954	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:34005954G>T	ENST00000335606.6	-	2	386	c.298C>A	c.(298-300)Cca>Aca	p.P100T	AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000382068.3_Missense_Mutation_p.P100T|RP11-1084J3.4_ENST00000382079.3_Missense_Mutation_p.S247Y|AMACR_ENST00000426255.2_Missense_Mutation_p.P100T|AMACR_ENST00000512079.1_Missense_Mutation_p.P100T|AMACR_ENST00000502637.1_Missense_Mutation_p.P100T|AMACR_ENST00000441713.2_Missense_Mutation_p.P100T|AMACR_ENST00000382072.2_Missense_Mutation_p.P100T|AMACR_ENST00000382085.3_Missense_Mutation_p.P100T	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	100					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alpha-methylacyl-CoA racemase activity (GO:0008111)|receptor binding (GO:0005102)	p.P100T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATAAGCCTTGGATTTTCCCGC	0.463																																						uc003jig.2																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)CCA>ACA		alpha-methylacyl-CoA racemase isoform 1							58.0	63.0	61.0					5																	34005954		2203	4300	6503	SO:0001583	missense	23600				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	g.chr5:34005954G>T	AF047020	CCDS3902.1, CCDS3903.1, CCDS54836.1	5p13.2	2012-05-16			ENSG00000242110	ENSG00000242110	5.1.99.4		451	protein-coding gene	gene with protein product		604489				9307041	Standard	NM_014324		Approved	RACE	uc003jij.3	Q9UHK6	OTTHUMG00000090734	ENST00000335606.6:c.298C>A	5.37:g.34005954G>T	ENSP00000334424:p.Pro100Thr					AMACR_uc003jih.2_Missense_Mutation_p.P100T|AMACR_uc003jii.2_Missense_Mutation_p.P100T|AMACR_uc003jij.2_Missense_Mutation_p.P100T|AMACR_uc003jil.1_Missense_Mutation_p.P100T|AMACR_uc003jik.1_Missense_Mutation_p.P100T	p.P100T	NM_014324	NP_055139	Q9UHK6	AMACR_HUMAN			2	380	-			100					A5YM47|B8Y916|B8Y918|F8W9N1|O43673|Q3KT79|Q96GH1|Q9Y3Q1	Missense_Mutation	SNP	ENST00000335606.6	37	c.298C>A	CCDS3902.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.981674	0.74474	.	.	ENSG00000242110	ENST00000335606;ENST00000382072;ENST00000382085;ENST00000502637;ENST00000441713	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	5.46	4.58	0.56647	CoA-transferase family III domain (2);	0.047033	0.85682	D	0.000000	D	0.91811	0.7409	H	0.99104	4.43	0.80722	D	1	D;D;D;D;D;D	0.76494	0.998;0.998;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.79784	0.977;0.985;0.988;0.993;0.972;0.993	D	0.94830	0.7995	10	0.87932	D	0	-15.5119	14.2729	0.66162	0.0718:0.0:0.9282:0.0	.	100;100;100;100;100;100	B3KMU8;Q6VRU4;F8W9N1;D6RB81;Q9UHK6-4;Q9UHK6	.;.;.;.;.;AMACR_HUMAN	T	100	ENSP00000334424:P100T;ENSP00000371504:P100T;ENSP00000371517:P100T;ENSP00000424351:P100T;ENSP00000403800:P100T	ENSP00000334424:P100T	P	-	1	0	AMACR	34041711	1.000000	0.71417	0.649000	0.29536	0.756000	0.42949	7.338000	0.79269	1.444000	0.47605	0.655000	0.94253	CCA		PASS	0.463	AMACR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207467.1	NM_014324		17	97	17	97	---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37605225	37605225	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:37605225G>T	ENST00000265107.4	+	10	1133	c.977G>T	c.(976-978)cGg>cTg	p.R326L	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Missense_Mutation_p.R326L	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	326							enzyme binding (GO:0019899)	p.R326L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTAAACCACGGACGATGCAA	0.393																																						uc003jkv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(976-978)CGG>CTG		WD repeat domain 70							89.0	79.0	83.0					5																	37605225		2203	4300	6503	SO:0001583	missense	55100							g.chr5:37605225G>T	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.977G>T	5.37:g.37605225G>T	ENSP00000265107:p.Arg326Leu					WDR70_uc010iva.1_Missense_Mutation_p.R326L	p.R326L	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1035	+	all_lung(31;0.000285)		326					Q9H053	Missense_Mutation	SNP	ENST00000265107.4	37	c.977G>T	CCDS34147.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329278	0.81690	.	.	ENSG00000082068	ENST00000265107;ENST00000504564	T;D	0.87179	-0.4;-2.22	4.8	3.93	0.45458	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	U	0.000004	D	0.92737	0.7691	M	0.80183	2.485	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.931	D	0.92946	0.6376	10	0.56958	D	0.05	-1.9719	13.1412	0.59436	0.0782:0.0:0.9218:0.0	.	326;326	D6RIW8;Q9NW82	.;WDR70_HUMAN	L	326	ENSP00000265107:R326L;ENSP00000425841:R326L	ENSP00000265107:R326L	R	+	2	0	WDR70	37640982	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.420000	0.97426	1.168000	0.42723	0.591000	0.81541	CGG		PASS	0.393	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		22	38	22	38	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41004890	41004890	+	Missense_Mutation	SNP	C	C	G	rs377394471		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:41004890C>G	ENST00000399564.4	-	36	4447	c.3997G>C	c.(3997-3999)Ggg>Cgg	p.G1333R	MROH2B_ENST00000506092.2_Missense_Mutation_p.G888R	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1333								p.G1333R(1)									TGAGGAGCCCCGGATGCTGTG	0.473																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(3997-3999)GGG>CGG		HEAT repeat family member 7B2							82.0	78.0	79.0					5																	41004890		1890	4124	6014	SO:0001583	missense	133558						binding	g.chr5:41004890C>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.3997G>C	5.37:g.41004890C>G	ENSP00000382476:p.Gly1333Arg					HEATR7B2_uc003jmi.3_Missense_Mutation_p.G888R	p.G1333R	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			36	4487	-			1333					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3997G>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459856	0.63401	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.64260	-0.09;-0.09	6.0	6.0	0.97389	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000008	T	0.78310	0.4263	M	0.75615	2.305	0.41362	D	0.987434	D	0.89917	1.0	D	0.85130	0.997	T	0.75360	-0.3345	10	0.32370	T	0.25	.	16.0001	0.80288	0.0:1.0:0.0:0.0	.	1333	Q7Z745	HTRB2_HUMAN	R	888;1038;1333	ENSP00000441504:G888R;ENSP00000382476:G1333R	ENSP00000296803:G1038R	G	-	1	0	HEATR7B2	41040647	0.991000	0.36638	0.970000	0.41538	0.360000	0.29518	3.814000	0.55643	2.856000	0.98102	0.643000	0.83706	GGG		PASS	0.473	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		24	56	24	56	---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55185892	55185892	+	Missense_Mutation	SNP	G	G	T	rs540245447		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:55185892G>T	ENST00000447346.2	+	6	766	c.701G>T	c.(700-702)cGa>cTa	p.R234L	IL31RA_ENST00000396836.2_Missense_Mutation_p.R234L|IL31RA_ENST00000396834.1_Missense_Mutation_p.R215L|IL31RA_ENST00000297015.3_Missense_Mutation_p.R92L|IL31RA_ENST00000354961.4_Missense_Mutation_p.R215L|IL31RA_ENST00000359040.5_Missense_Mutation_p.R234L|IL31RA_ENST00000490985.1_Missense_Mutation_p.R92L	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	202	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)	p.R234L(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAGCTCTGCGATGTGCGGTC	0.478																																						uc003jql.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(700-702)CGA>CTA		gp130-like monocyte receptor							129.0	116.0	121.0					5																	55185892		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55185892G>T	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.701G>T	5.37:g.55185892G>T	ENSP00000415900:p.Arg234Leu					IL31RA_uc003jqk.2_Missense_Mutation_p.R234L|IL31RA_uc011cqj.1_Missense_Mutation_p.R92L|IL31RA_uc003jqm.2_Missense_Mutation_p.R202L|IL31RA_uc003jqn.2_Missense_Mutation_p.R234L|IL31RA_uc010iwa.1_Missense_Mutation_p.R202L|IL31RA_uc003jqo.2_Missense_Mutation_p.R92L	p.R234L	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN			6	766	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	202			Extracellular (Potential).|Fibronectin type-III 2.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.701G>T	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987041	0.74589	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	6.11	-1.88	0.07713	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.463564	0.22988	N	0.053229	T	0.69584	0.3127	M	0.80616	2.505	0.25363	N	0.988762	D;D;D;P;D	0.63880	0.993;0.991;0.991;0.946;0.98	P;P;P;P;P	0.62014	0.897;0.834;0.834;0.619;0.796	T	0.65479	-0.6158	10	0.87932	D	0	-26.7332	11.171	0.48571	0.5895:0.0:0.4105:0.0	.	202;234;215;234;234	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	L	234;215;234;234;92;92;215	ENSP00000380048:R234L;ENSP00000380046:R215L;ENSP00000415900:R234L;ENSP00000351935:R234L;ENSP00000297015:R92L;ENSP00000427533:R92L;ENSP00000347047:R215L	ENSP00000297015:R92L	R	+	2	0	IL31RA	55221649	0.005000	0.15991	0.005000	0.12908	0.238000	0.25445	-0.103000	0.10940	-0.273000	0.09246	0.655000	0.94253	CGA		PASS	0.478	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		33	75	33	75	---	---	---	---
SV2C	22987	broad.mit.edu	37	5	75594629	75594629	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:75594629G>T	ENST00000502798.2	+	10	1955	c.1513G>T	c.(1513-1515)Gtc>Ttc	p.V505F	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.V505F	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	505					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)	p.V505F(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		ATTCATAGGGGTCAAGTTCAA	0.368																																						uc003kei.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1513-1515)GTC>TTC		synaptic vesicle glycoprotein 2C							207.0	188.0	194.0					5																	75594629		1847	4090	5937	SO:0001583	missense	22987				neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr5:75594629G>T	AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.1513G>T	5.37:g.75594629G>T	ENSP00000423541:p.Val505Phe						p.V505F	NM_014979	NP_055794	Q496J9	SV2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)	10	1647	+		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)	505			Extracellular (Potential).		Q496K1|Q9UPU8	Missense_Mutation	SNP	ENST00000502798.2	37	c.1513G>T	CCDS43331.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.716361	0.48622	.	.	ENSG00000122012	ENST00000502798;ENST00000322285	T;T	0.45668	0.89;0.89	5.07	1.37	0.22104	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.194095	0.52532	D	0.000066	T	0.20861	0.0502	N	0.08118	0	0.38894	D	0.957176	B	0.21147	0.052	B	0.25759	0.063	T	0.06041	-1.0849	10	0.72032	D	0.01	-15.0591	6.2791	0.20997	0.5538:0.0:0.4462:0.0	.	505	Q496J9	SV2C_HUMAN	F	505	ENSP00000423541:V505F;ENSP00000316983:V505F	ENSP00000316983:V505F	V	+	1	0	SV2C	75630385	1.000000	0.71417	0.989000	0.46669	0.869000	0.49853	4.506000	0.60428	0.484000	0.27630	0.650000	0.86243	GTC		PASS	0.368	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368700.4			48	137	48	137	---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90087132	90087132	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:90087132A>G	ENST00000405460.2	+	70	14582	c.14486A>G	c.(14485-14487)tAt>tGt	p.Y4829C	GPR98_ENST00000425867.2_Missense_Mutation_p.Y490C	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4829					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.Y4829C(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)		GGTGCCACATATAAAGTGGAC	0.453																																						uc003kju.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(14485-14487)TAT>TGT		G protein-coupled receptor 98 precursor							20.0	20.0	20.0					5																	90087132		2082	4211	6293	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90087132A>G	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14486A>G	5.37:g.90087132A>G	ENSP00000384582:p.Tyr4829Cys					GPR98_uc003kjt.2_Missense_Mutation_p.Y2535C|GPR98_uc003kjw.2_Missense_Mutation_p.Y490C	p.Y4829C	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)	70	14582	+		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)	4829			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.14486A>G	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	7.951	0.744890	0.15710	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35973	1.28;1.28	5.84	4.66	0.58398	.	0.370775	0.31370	N	0.007762	T	0.49081	0.1536	M	0.67953	2.075	0.20196	N	0.999923	D;P;D	0.69078	0.997;0.953;0.996	P;B;P	0.59288	0.781;0.319;0.855	T	0.42378	-0.9455	10	0.46703	T	0.11	.	7.9655	0.30095	0.7253:0.1323:0.0:0.1424	.	490;4829;490	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	C	4829;4829;490	ENSP00000384582:Y4829C;ENSP00000392618:Y490C	ENSP00000296619:Y4829C	Y	+	2	0	GPR98	90122888	0.999000	0.42202	0.073000	0.20177	0.152000	0.21847	2.126000	0.42026	1.009000	0.39289	0.533000	0.62120	TAT		PASS	0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		8	12	8	12	---	---	---	---
ANKRD32	84250	broad.mit.edu	37	5	94024292	94024292	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:94024292C>T	ENST00000265140.5	+	17	2622	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	735						centrosome (GO:0005813)|nucleus (GO:0005634)		p.R735W(1)|p.R99W(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		AATAGGACAGCGGCCTTGTTT	0.408																																						uc003kkr.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2203-2205)CGG>TGG		ankyrin repeat domain 32							111.0	113.0	113.0					5																	94024292		2203	4300	6503	SO:0001583	missense	84250							g.chr5:94024292C>T	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2203C>T	5.37:g.94024292C>T	ENSP00000265140:p.Arg735Trp					ANKRD32_uc003kks.2_Missense_Mutation_p.R99W	p.R735W	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	17	2283	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	735					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2203C>T	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825568	0.32237	.	.	ENSG00000133302	ENST00000265140	T	0.41400	1.0	5.36	-0.0504	0.13830	.	0.349077	0.28376	N	0.015577	T	0.17916	0.0430	N	0.11560	0.145	0.31504	N	0.664476	B	0.19200	0.034	B	0.08055	0.003	T	0.04579	-1.0941	10	0.46703	T	0.11	.	3.6338	0.08142	0.3507:0.4283:0.1154:0.1056	.	735	Q9BQI6	ANR32_HUMAN	W	735	ENSP00000265140:R735W	ENSP00000265140:R735W	R	+	1	2	ANKRD32	94050048	0.159000	0.22864	0.999000	0.59377	0.990000	0.78478	-0.104000	0.10923	0.280000	0.22209	-0.238000	0.12139	CGG		PASS	0.408	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		51	99	51	99	---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109103254	109103254	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:109103254G>T	ENST00000261483.4	+	6	1906	c.854G>T	c.(853-855)gGc>gTc	p.G285V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	285					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)	p.G285V(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CCTCGGTCCGGCTGGGCTATT	0.383																																						uc003kou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(853-855)GGC>GTC		mannosidase, alpha, class 2A, member 1							126.0	121.0	123.0					5																	109103254		2202	4300	6502	SO:0001583	missense	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109103254G>T		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.854G>T	5.37:g.109103254G>T	ENSP00000261483:p.Gly285Val						p.G285V	NM_002372	NP_002363	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	6	1817	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	285			Lumenal (Potential).		Q16767	Missense_Mutation	SNP	ENST00000261483.4	37	c.854G>T	CCDS34209.1	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528130	0.64860	.	.	ENSG00000112893	ENST00000261483	T	0.24723	1.84	5.45	5.45	0.79879	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.046898	0.85682	D	0.000000	T	0.64918	0.2642	H	0.95294	3.65	0.80722	D	1	D	0.62365	0.991	D	0.67548	0.952	T	0.76119	-0.3076	10	0.87932	D	0	-18.154	19.6425	0.95763	0.0:0.0:1.0:0.0	.	285	Q16706	MA2A1_HUMAN	V	285	ENSP00000261483:G285V	ENSP00000261483:G285V	G	+	2	0	MAN2A1	109131153	1.000000	0.71417	0.891000	0.34965	0.490000	0.33462	6.478000	0.73596	2.713000	0.92767	0.655000	0.94253	GGC		PASS	0.383	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1			60	110	60	110	---	---	---	---
ALDH7A1	501	broad.mit.edu	37	5	125894941	125894941	+	Silent	SNP	C	C	T	rs563675719		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:125894941C>T	ENST00000409134.3	-	11	1218	c.999G>A	c.(997-999)gcG>gcA	p.A333A	ALDH7A1_ENST00000447989.2_Silent_p.A360A|ALDH7A1_ENST00000553117.1_Silent_p.A333A	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	333					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)	p.A305A(1)|p.A360A(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CCAGTCGCCTCGCAGTGGTAC	0.478																																						uc003ktx.2																			2	Substitution - coding silent(2)		lung(2)	kidney(2)|ovary(1)	3						c.(997-999)GCG>GCA		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						81.0	73.0	76.0					5																	125894941		2203	4300	6503	SO:0001819	synonymous_variant	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125894941C>T	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.999G>A	5.37:g.125894941C>T						ALDH7A1_uc003ktv.2_5'UTR|ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.A360A	p.A333A	NM_001182	NP_001173	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	11	1191	-		all_cancers(142;0.24)|Prostate(80;0.081)	333					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	ENST00000409134.3	37	c.999G>A	CCDS4137.2																																																																																				PASS	0.478	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		23	63	23	63	---	---	---	---
ISOC1	51015	broad.mit.edu	37	5	128442721	128442721	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:128442721C>G	ENST00000173527.5	+	4	732	c.716C>G	c.(715-717)tCa>tGa	p.S239*		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	239						extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	catalytic activity (GO:0003824)	p.S239*(1)		kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		GCCACCTCATCAAGAAGCATG	0.448																																						uc003kva.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(715-717)TCA>TGA		isochorismatase domain containing 1							142.0	139.0	140.0					5																	128442721		2049	4204	6253	SO:0001587	stop_gained	51015					peroxisome	catalytic activity	g.chr5:128442721C>G	AF151869	CCDS43357.1	5q22.1-q33.3	2010-03-19			ENSG00000066583	ENSG00000066583			24254	protein-coding gene	gene with protein product						10810093, 18566572	Standard	NM_016048		Approved	CGI-111	uc003kva.3	Q96CN7	OTTHUMG00000163144	ENST00000173527.5:c.716C>G	5.37:g.128442721C>G	ENSP00000173527:p.Ser239*						p.S239*	NM_016048	NP_057132	Q96CN7	ISOC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)	4	734	+		all_cancers(142;0.0813)|Prostate(80;0.0865)	239					Q7Z770	Nonsense_Mutation	SNP	ENST00000173527.5	37	c.716C>G	CCDS43357.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.788265	0.90367	.	.	ENSG00000066583	ENST00000506986;ENST00000173527	.	.	.	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.0242	18.6411	0.91396	0.0:1.0:0.0:0.0	.	.	.	.	X	218;239	.	.	S	+	2	0	ISOC1	128470620	1.000000	0.71417	0.886000	0.34754	0.648000	0.38561	6.694000	0.74587	2.822000	0.97130	0.650000	0.86243	TCA		PASS	0.448	ISOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371826.1	NM_016048		30	80	30	80	---	---	---	---
ADAMTS19	171019	broad.mit.edu	37	5	128844853	128844853	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:128844853T>A	ENST00000274487.4	+	3	958	c.813T>A	c.(811-813)cgT>cgA	p.R271R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	271						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R271R(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACCCACACCGTGTATATAGGC	0.413																																						uc003kvb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(2)|lung(1)|skin(1)	9						c.(811-813)CGT>CGA		ADAM metallopeptidase with thrombospondin type 1							114.0	103.0	106.0					5																	128844853		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128844853T>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.813T>A	5.37:g.128844853T>A						ADAMTS19_uc003kvc.1_RNA	p.R271R	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	3	813	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	271						Silent	SNP	ENST00000274487.4	37	c.813T>A	CCDS4146.1																																																																																				PASS	0.413	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		43	60	43	60	---	---	---	---
CHSY3	337876	broad.mit.edu	37	5	129243813	129243813	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:129243813G>T	ENST00000305031.4	+	2	1204	c.846G>T	c.(844-846)aaG>aaT	p.K282N	CTC-575N7.1_ENST00000503616.1_RNA|CHSY3_ENST00000507545.1_3'UTR|CTC-575N7.1_ENST00000515569.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	282					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.K282N(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ACAGCAGTAAGCCTCTCTACC	0.433																																						uc003kvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(844-846)AAG>AAT		chondroitin sulfate synthase 3							79.0	81.0	81.0					5																	129243813		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129243813G>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.846G>T	5.37:g.129243813G>T	ENSP00000302629:p.Lys282Asn						p.K282N	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	2	846	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	282			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.846G>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443231	0.43429	.	.	ENSG00000198108	ENST00000305031	D	0.85171	-1.95	4.33	1.6	0.23607	.	0.000000	0.39083	N	0.001474	D	0.83622	0.5294	M	0.79693	2.465	0.58432	D	0.99999	P	0.37864	0.61	B	0.38616	0.277	T	0.79259	-0.1877	9	.	.	.	.	9.3792	0.38301	0.3776:0.0:0.6224:0.0	.	282	Q70JA7	CHSS3_HUMAN	N	282	ENSP00000302629:K282N	.	K	+	3	2	CHSY3	129271712	0.994000	0.37717	1.000000	0.80357	0.933000	0.57130	0.266000	0.18534	0.354000	0.24105	0.591000	0.81541	AAG		PASS	0.433	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		29	68	29	68	---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131915105	131915105	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:131915105C>T	ENST00000265335.6	+	4	849	c.462C>T	c.(460-462)gtC>gtT	p.V154V	RAD50_ENST00000378823.3_Silent_p.V15V			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	154					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.V15V(1)|p.V154V(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAAATAATGTCATTTTCTGTC	0.398								Homologous recombination																														uc003kxi.2																			2	Substitution - coding silent(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(460-462)GTC>GTT	Homologous_recombination	RAD50 homolog isoform 1							98.0	102.0	101.0					5																	131915105		2203	4300	6503	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131915105C>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.462C>T	5.37:g.131915105C>T						RAD50_uc003kxg.1_Silent_p.V55V|RAD50_uc003kxh.2_Silent_p.V15V	p.V154V	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	849	+		all_cancers(142;0.0368)|Breast(839;0.198)	154					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.462C>T	CCDS34233.1																																																																																				PASS	0.398	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		38	86	38	86	---	---	---	---
TXNDC15	79770	broad.mit.edu	37	5	134232099	134232099	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:134232099A>T	ENST00000358387.4	+	4	1496	c.871A>T	c.(871-873)Att>Ttt	p.I291F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.I268F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	291	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)		p.I291F(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAAAATCTTCATTTTTAATCA	0.393																																						uc003lac.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(871-873)ATT>TTT		disulfide isomerase precursor							106.0	107.0	107.0					5																	134232099		2203	4299	6502	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134232099A>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.871A>T	5.37:g.134232099A>T	ENSP00000351157:p.Ile291Phe					TXNDC15_uc010jdy.1_RNA|TXNDC15_uc011cxv.1_RNA	p.I291F	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		4	1529	+			291			Extracellular (Potential).|Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.871A>T	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.7|21.7	4.185994|4.185994	0.78789|0.78789	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000509954|ENST00000441965;ENST00000358387;ENST00000546290	.|T;T	.|0.28666	.|1.6;1.6	6.17|6.17	5.0|5.0	0.66597|0.66597	.|Thioredoxin domain (1);Thioredoxin-like fold (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.52338|0.52338	0.1728|0.1728	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.73708	.|0.981	T|T	0.55003|0.55003	-0.8208|-0.8208	5|10	.|0.87932	.|D	.|0	-7.1073|-7.1073	9.3954|9.3954	0.38399|0.38399	0.7522:0.1269:0.0:0.121|0.7522:0.1269:0.0:0.121	.|.	.|291	.|Q96J42	.|TXD15_HUMAN	L|F	45|275;291;268	.|ENSP00000351157:I291F;ENSP00000443942:I268F	.|ENSP00000351157:I291F	H|I	+|+	2|1	0|0	TXNDC15|TXNDC15	134259998|134259998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.861000|3.861000	0.56002|0.56002	1.133000|1.133000	0.42147|0.42147	0.533000|0.533000	0.62120|0.62120	CAT|ATT		PASS	0.393	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		64	144	64	144	---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135583364	135583364	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:135583364C>A	ENST00000513104.1	-	7	1921	c.1639G>T	c.(1639-1641)Gcc>Tcc	p.A547S	TRPC7_ENST00000355180.3_Missense_Mutation_p.A486S|TRPC7_ENST00000426057.2_Missense_Mutation_p.A431S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	547					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.A547S(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGCACGACGGCTATCGCGTAG	0.517																																						uc003lbn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1636-1638)GCC>TCC		transient receptor potential cation channel,							99.0	100.0	100.0					5																	135583364		1970	4154	6124	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583364C>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1639G>T	5.37:g.135583364C>A	ENSP00000426070:p.Ala547Ser					TRPC7_uc010jef.1_Missense_Mutation_p.A483S|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.A477S|TRPC7_uc010jei.1_Missense_Mutation_p.A422S|TRPC7_uc010jej.1_Missense_Mutation_p.A98S	p.A546S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	1639	-			547			Helical; (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1636G>T	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.364728|4.364728	0.82463|0.82463	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.98633|.	-5.04;-5.04;-5.04|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Ion transport (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85712|0.85712	0.5760|0.5760	M|M	0.89785|0.89785	3.06|3.06	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D|.	0.89917|.	0.999;0.984;1.0;1.0|.	D;D;D;D|.	0.85130|.	0.997;0.94;0.997;0.997|.	D|D	0.87022|0.87022	0.2129|0.2129	10|5	0.59425|.	D|.	0.04|.	-11.4387|-11.4387	19.9142|19.9142	0.97043|0.97043	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	431;486;492;547|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	S|I	486;431;547;547|430;485;491	ENSP00000347312:A486S;ENSP00000441628:A431S;ENSP00000426070:A547S|.	ENSP00000265193:A547S|.	A|S	-|-	1|2	0|0	TRPC7|TRPC7	135611263|135611263	1.000000|1.000000	0.71417|0.71417	0.474000|0.474000	0.27266|0.27266	0.437000|0.437000	0.31866|0.31866	7.651000|7.651000	0.83577|0.83577	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCC|AGC		PASS	0.517	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		51	98	51	98	---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135651309	135651309	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:135651309G>T	ENST00000513104.1	-	3	1221	c.939C>A	c.(937-939)ctC>ctA	p.L313L	TRPC7_ENST00000355180.3_Intron|TRPC7_ENST00000426057.2_Intron|TRPC7-AS2_ENST00000513958.1_RNA	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	313					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.L313L(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTTAATGGCGAGTTTGATCC	0.512																																						uc003lbn.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(934-936)CTC>CTA		transient receptor potential cation channel,							85.0	89.0	88.0					5																	135651309		1958	4155	6113	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135651309G>T	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.939C>A	5.37:g.135651309G>T						TRPC7_uc010jef.1_Silent_p.L304L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Intron|TRPC7_uc010jei.1_Intron|TRPC7_uc010jej.1_Intron	p.L312L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	939	-			313			Cytoplasmic (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.936C>A	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	9.001	0.980120	0.18812	.	.	ENSG00000069018	ENST00000502753	.	.	.	5.64	3.7	0.42460	.	.	.	.	.	T	0.47875	0.1469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43523	-0.9386	4	.	.	.	-23.0784	4.2649	0.10759	0.2859:0.2813:0.4327:0.0	.	.	.	.	S	313	.	.	R	-	1	0	TRPC7	135679208	0.461000	0.25783	1.000000	0.80357	0.999000	0.98932	-0.207000	0.09384	1.595000	0.50050	0.650000	0.86243	CGC		PASS	0.512	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		9	43	9	43	---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137506041	137506041	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:137506041T>C	ENST00000254900.5	-	7	869	c.498A>G	c.(496-498)gcA>gcG	p.A166A	BRD8_ENST00000455658.2_Silent_p.A125A|BRD8_ENST00000402931.1_Silent_p.A166A|BRD8_ENST00000230901.5_Silent_p.A166A|BRD8_ENST00000411594.2_Silent_p.A166A	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	166					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)	p.A166A(2)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TACCCTGGTATGCAGCATCTG	0.418																																						uc003lcf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(496-498)GCA>GCG		bromodomain containing 8 isoform 2							206.0	170.0	182.0					5																	137506041		2203	4300	6503	SO:0001819	synonymous_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137506041T>C	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.498A>G	5.37:g.137506041T>C						BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Silent_p.A166A|BRD8_uc003lci.2_Silent_p.A166A|BRD8_uc003lch.2_Silent_p.A26A|BRD8_uc011cym.1_Silent_p.A150A|BRD8_uc010jer.1_Silent_p.A135A|BRD8_uc011cyn.1_Silent_p.A125A|BRD8_uc010jes.1_Silent_p.A33A	p.A166A	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		7	553	-			166			Potential.		O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Silent	SNP	ENST00000254900.5	37	c.498A>G	CCDS4198.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466689	0.26335	.	.	ENSG00000112983	ENST00000441656	.	.	.	5.98	-2.73	0.05950	.	.	.	.	.	T	0.36608	0.0973	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33777	-0.9855	4	.	.	.	-13.4433	0.2205	0.00167	0.2251:0.2065:0.2108:0.3575	.	.	.	.	R	160	.	.	H	-	2	0	BRD8	137533940	0.624000	0.27102	0.992000	0.48379	0.909000	0.53808	-0.230000	0.09083	-0.329000	0.08527	-0.263000	0.10527	CAT		PASS	0.418	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	NM_006696		61	95	61	95	---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140207706	140207706	+	Silent	SNP	A	A	T	rs17844300		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140207706A>T	ENST00000529310.1	+	1	144	c.30A>T	c.(28-30)ggA>ggT	p.G10G	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.G10G|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_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	10					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.G10G(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)			ATAGATTGGGAAAGCAATGTC	0.512																																						uc003lho.2																			2	Substitution - coding silent(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(28-30)GGA>GGT		protocadherin alpha 6 isoform 1 precursor							111.0	127.0	122.0					5																	140207706		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207706A>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.30A>T	5.37:g.140207706A>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_Silent_p.G10G|PCDHA6_uc011dab.1_Silent_p.G10G	p.G10G	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	57	+			10					O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.30A>T	CCDS47281.1																																																																																				PASS	0.512	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		68	136	68	136	---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140248759	140248759	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140248759G>T	ENST00000398640.2	+	1	71	c.71G>T	c.(70-72)tGg>tTg	p.W24L	PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	24					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.W24L(1)		breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGAATTCTGGGAGGTGGGG	0.597																																						uc003lia.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(70-72)TGG>TTG		protocadherin alpha 11 isoform 1 precursor							68.0	79.0	75.0					5																	140248759		2201	4300	6501	SO:0001583	missense	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140248759G>T	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.71G>T	5.37:g.140248759G>T	ENSP00000381636:p.Trp24Leu					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_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.W24L	p.W24L	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	929	+			24					B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.71G>T	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.310851	0.23821	.	.	ENSG00000249158	ENST00000398640	T	0.49139	0.79	5.35	5.35	0.76521	.	.	.	.	.	T	0.66317	0.2777	M	0.76002	2.32	0.18873	N	0.999981	P;D	0.69078	0.577;0.997	P;P	0.56788	0.477;0.806	T	0.61564	-0.7037	9	0.54805	T	0.06	.	19.0738	0.93151	0.0:0.0:1.0:0.0	.	24;24	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	L	24	ENSP00000381636:W24L	ENSP00000381636:W24L	W	+	2	0	PCDHA11	140228943	1.000000	0.71417	0.672000	0.29872	0.044000	0.14063	4.300000	0.59079	2.512000	0.84698	0.655000	0.94253	TGG		PASS	0.597	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		57	108	57	108	---	---	---	---
PCDHAC1	56135	broad.mit.edu	37	5	140308655	140308655	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140308655G>T	ENST00000253807.2	+	1	2178	c.2178G>T	c.(2176-2178)agG>agT	p.R726S	PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R726S|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	726					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.R726S(1)		NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATCTGAGGTATGGAAGTA	0.473																																						uc003lih.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2176-2178)AGG>AGT		protocadherin alpha subfamily C, 1 isoform 1							110.0	106.0	108.0					5																	140308655		2203	4300	6503	SO:0001583	missense	56135				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140308655G>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2178G>T	5.37:g.140308655G>T	ENSP00000253807:p.Arg726Ser					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_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.R726S	p.R726S	NM_018898	NP_061721	Q9H158	PCDC1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2354	+			726			Cytoplasmic (Potential).		Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2178G>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	3.727	-0.056255	0.07362	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.50277	0.76;0.75	5.83	0.265	0.15612	.	.	.	.	.	T	0.25938	0.0632	N	0.17474	0.49	0.09310	N	1	B;B	0.21225	0.001;0.053	B;B	0.15484	0.008;0.013	T	0.20974	-1.0259	9	0.19147	T	0.46	.	6.4494	0.21896	0.4716:0.1879:0.3405:0.0	.	726;726	Q9H158;Q9H158-2	PCDC1_HUMAN;.	S	726	ENSP00000386356:R726S;ENSP00000253807:R726S	ENSP00000253807:R726S	R	+	3	2	PCDHAC1	140288839	0.000000	0.05858	0.044000	0.18714	0.938000	0.57974	-0.554000	0.06006	0.098000	0.17522	-0.251000	0.11542	AGG		PASS	0.473	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		43	93	43	93	---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140432759	140432759	+	Missense_Mutation	SNP	C	C	G	rs137984585	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140432759C>G	ENST00000306549.3	+	1	1781	c.1704C>G	c.(1702-1704)aaC>aaG	p.N568K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	568					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N568K(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTGCAGAACGGCACCTTGC	0.522																																						uc003lik.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1702-1704)AAC>AAG		protocadherin beta 1 precursor							111.0	100.0	104.0					5																	140432759		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432759C>G	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1704C>G	5.37:g.140432759C>G	ENSP00000307234:p.Asn568Lys						p.N568K	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1781	+			568			Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1704C>G	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320187	0.41096	.	.	ENSG00000171815	ENST00000306549	T	0.60797	0.16	5.94	2.38	0.29361	Cadherin-like (1);	0.000000	0.50627	D	0.000104	T	0.55081	0.1898	L	0.28054	0.825	0.31817	N	0.626451	D	0.61697	0.99	P	0.59357	0.856	T	0.61247	-0.7101	10	0.66056	D	0.02	.	7.9623	0.30079	0.0:0.28:0.0:0.72	.	568	Q9Y5F3	PCDB1_HUMAN	K	568	ENSP00000307234:N568K	ENSP00000307234:N568K	N	+	3	2	PCDHB1	140412943	0.035000	0.19736	1.000000	0.80357	0.971000	0.66376	-0.115000	0.10741	1.065000	0.40693	-0.415000	0.06103	AAC		PASS	0.522	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		69	127	69	127	---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140474456	140474456	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140474456G>T	ENST00000194155.4	+	1	230	c.82G>T	c.(82-84)Gct>Tct	p.A28S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	28					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A28S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATAGCTCAGGCTAGTTGCCA	0.527																																						uc003lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6						c.(82-84)GCT>TCT		protocadherin beta 2 precursor							79.0	83.0	81.0					5																	140474456		2203	4300	6503	SO:0001583	missense	56133				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140474456G>T	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.82G>T	5.37:g.140474456G>T	ENSP00000194155:p.Ala28Ser					PCDHB2_uc003lim.1_Intron	p.A28S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	220	+			28					Q4KMU1	Missense_Mutation	SNP	ENST00000194155.4	37	c.82G>T	CCDS4244.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.090997	0.36855	.	.	ENSG00000112852	ENST00000194155	T	0.51071	0.72	5.47	5.47	0.80525	.	.	.	.	.	T	0.27731	0.0682	N	0.08118	0	0.19775	N	0.999954	B	0.26876	0.162	B	0.24848	0.056	T	0.07597	-1.0764	9	0.44086	T	0.13	.	8.6719	0.34156	0.0772:0.0:0.7704:0.1524	.	28	Q9Y5E7	PCDB2_HUMAN	S	28	ENSP00000194155:A28S	ENSP00000194155:A28S	A	+	1	0	PCDHB2	140454640	0.032000	0.19561	0.995000	0.50966	0.887000	0.51463	0.806000	0.27126	2.729000	0.93468	0.655000	0.94253	GCT		PASS	0.527	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251801.2	NM_018936		21	93	21	93	---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140501785	140501785	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140501785G>T	ENST00000194152.1	+	1	205	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	69	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D69Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTGACGATGACAAGCA	0.572																																						uc003lip.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(205-207)GAT>TAT		protocadherin beta 4 precursor							65.0	68.0	67.0					5																	140501785		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501785G>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.205G>T	5.37:g.140501785G>T	ENSP00000194152:p.Asp69Tyr						p.D69Y	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	205	+			69			Cadherin 1.|Extracellular (Potential).		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.205G>T	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779655	0.31502	.	.	ENSG00000081818	ENST00000194152	T	0.28895	1.59	4.66	3.78	0.43462	Cadherin, N-terminal (1);Cadherin-like (1);	.	.	.	.	T	0.45074	0.1324	M	0.75085	2.285	0.09310	N	1	P	0.42941	0.794	P	0.51266	0.664	T	0.33445	-0.9868	9	0.87932	D	0	.	8.778	0.34774	0.0812:0.1523:0.7665:0.0	.	69	Q9Y5E5	PCDB4_HUMAN	Y	69	ENSP00000194152:D69Y	ENSP00000194152:D69Y	D	+	1	0	PCDHB4	140481969	0.000000	0.05858	0.921000	0.36526	0.976000	0.68499	-0.598000	0.05706	1.285000	0.44548	0.655000	0.94253	GAT		PASS	0.572	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		29	84	29	84	---	---	---	---
PCDHB6	56130	broad.mit.edu	37	5	140532060	140532060	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140532060G>T	ENST00000231136.1	+	1	2222	c.2222G>T	c.(2221-2223)gGg>gTg	p.G741V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.G605V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	741					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G741V(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCGGCACCGGGACCCTATCC	0.612																																						uc003lir.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2221-2223)GGG>GTG		protocadherin beta 6 precursor							119.0	130.0	126.0					5																	140532060		2202	4300	6502	SO:0001583	missense	56130				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140532060G>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.2222G>T	5.37:g.140532060G>T	ENSP00000231136:p.Gly741Val					PCDHB6_uc011dah.1_Missense_Mutation_p.G605V	p.G741V	NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2222	+			741			Cytoplasmic (Potential).		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.2222G>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135393	0.56828	.	.	ENSG00000113211	ENST00000543635;ENST00000231136	T;T	0.56103	0.48;0.54	4.45	4.45	0.53987	.	.	.	.	.	T	0.76681	0.4021	H	0.95114	3.625	0.58432	D	0.999995	D	0.58268	0.982	P	0.61328	0.887	T	0.83123	-0.0117	9	0.87932	D	0	.	11.3548	0.49609	0.0:0.0:0.8183:0.1817	.	741	Q9Y5E3	PCDB6_HUMAN	V	605;741	ENSP00000438466:G605V;ENSP00000231136:G741V	ENSP00000231136:G741V	G	+	2	0	PCDHB6	140512244	1.000000	0.71417	0.962000	0.40283	0.410000	0.31052	7.214000	0.77958	2.187000	0.69744	0.556000	0.70494	GGG		PASS	0.612	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		89	182	89	182	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554197	140554197	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140554197G>T	ENST00000231137.3	+	1	1955	c.1781G>T	c.(1780-1782)gGc>gTc	p.G594V		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	594	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G594V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGTGGACGGCGACTCGGGC	0.711																																						uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1780-1782)GGC>GTC		protocadherin beta 7 precursor							23.0	34.0	31.0					5																	140554197		1888	3881	5769	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554197G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1781G>T	5.37:g.140554197G>T	ENSP00000231137:p.Gly594Val						p.G594V	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1955	+			594			Cadherin 6.|Extracellular (Potential).		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1781G>T	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243531	0.39697	.	.	ENSG00000113212	ENST00000231137	T	0.50548	0.74	4.3	2.26	0.28386	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.53932	0.1827	L	0.52364	1.645	0.47183	D	0.999345	B	0.30605	0.287	P	0.45712	0.491	T	0.58885	-0.7557	9	0.51188	T	0.08	.	14.2497	0.66011	0.0:0.4875:0.5125:0.0	.	594	Q9Y5E2	PCDB7_HUMAN	V	594	ENSP00000231137:G594V	ENSP00000231137:G594V	G	+	2	0	PCDHB7	140534381	0.210000	0.23517	0.991000	0.47740	0.972000	0.66771	1.080000	0.30779	0.881000	0.35993	0.449000	0.29647	GGC		PASS	0.711	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		35	108	35	108	---	---	---	---
PCDHB8	56128	broad.mit.edu	37	5	140559816	140559816	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140559816C>T	ENST00000239444.2	+	1	2446	c.2201C>T	c.(2200-2202)cCa>cTa	p.P734L	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	734					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P734L(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCCTTTCCAGGGCATCTG	0.632																																						uc011dai.1																			1	Substitution - Missense(1)		lung(1)	skin(4)	4						c.(2200-2202)CCA>CTA		protocadherin beta 8 precursor							78.0	82.0	81.0					5																	140559816		2203	4300	6503	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559816C>T	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2201C>T	5.37:g.140559816C>T	ENSP00000239444:p.Pro734Leu					PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank	p.P734L	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2387	+			734			Cytoplasmic (Potential).		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.2201C>T	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494231	0.85069	.	.	ENSG00000120322	ENST00000239444	T	0.48522	0.81	4.49	4.49	0.54785	.	.	.	.	.	T	0.71169	0.3308	M	0.93763	3.455	0.49483	D	0.999794	P	0.41643	0.758	P	0.52598	0.703	T	0.79876	-0.1618	9	0.87932	D	0	.	15.0421	0.71799	0.0:1.0:0.0:0.0	.	734	Q9UN66	PCDB8_HUMAN	L	734	ENSP00000239444:P734L	ENSP00000239444:P734L	P	+	2	0	PCDHB8	140540000	0.000000	0.05858	0.054000	0.19295	0.009000	0.06853	0.481000	0.22260	2.052000	0.61016	0.552000	0.68991	CCA		PASS	0.632	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		75	151	75	151	---	---	---	---
PCDHB16	57717	broad.mit.edu	37	5	140563670	140563670	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140563670C>T	ENST00000361016.2	+	1	2691	c.1536C>T	c.(1534-1536)caC>caT	p.H512H		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.H512H(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGGCCACCTGTTCGCCC	0.692																																						uc003liv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1534-1536)CAC>CAT		protocadherin beta 16 precursor							33.0	33.0	33.0					5																	140563670		2144	4155	6299	SO:0001819	synonymous_variant	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563670C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1536C>T	5.37:g.140563670C>T							p.H512H	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2691	+			512			Extracellular (Potential).|Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	c.1536C>T	CCDS4251.1																																																																																				PASS	0.692	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		5	104	5	104	---	---	---	---
Unknown	0	broad.mit.edu	37	5	140568859	140568859	+	IGR	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140568859C>A								PCDHB16 (3066 upstream) : PCDHB10 (3082 downstream)																							CGGCCACCGCCACGCTGCACG	0.706																																						uc003liw.1																			0					0						c.(1966-1968)GCC>GCA		protocadherin beta 9 precursor							25.0	28.0	27.0					5																	140568859		1804	3716	5520	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140568859C>A																													5.37:g.140568859C>A							p.A656A	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	1968	+			656			Extracellular (Potential).|Cadherin 6.			Silent	SNP		37	c.1968C>A																																																																																				0	PASS	0.706									29	77	29	77	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140573661	140573661	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140573661C>T	ENST00000239446.4	+	1	1720	c.1536C>T	c.(1534-1536)caC>caT	p.H512H		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	512	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.H512H(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACGGCCACCTGTTCGCCC	0.701																																						uc003lix.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1534-1536)CAC>CAT		protocadherin beta 10 precursor							102.0	119.0	114.0					5																	140573661		2203	4297	6500	SO:0001819	synonymous_variant	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573661C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1536C>T	5.37:g.140573661C>T							p.H512H	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1710	+			512			Cadherin 5.|Extracellular (Potential).		Q96T99	Silent	SNP	ENST00000239446.4	37	c.1536C>T	CCDS4252.1																																																																																				PASS	0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		58	220	58	220	---	---	---	---
PCDHB14	56122	broad.mit.edu	37	5	140603986	140603986	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140603986G>C	ENST00000239449.4	+	1	909	c.909G>C	c.(907-909)ttG>ttC	p.L303F	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L150F	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN	protocadherin beta 14	303	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.L303F(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGTTAATTTGAGATCACCCC	0.353																																					Ovarian(141;50 1831 27899 33809 37648)	uc003ljb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(907-909)TTG>TTC		protocadherin beta 14 precursor							53.0	58.0	56.0					5																	140603986		2202	4300	6502	SO:0001583	missense	56122				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140603986G>C	AF152493	CCDS4256.1	5q31	2010-01-26			ENSG00000120327	ENSG00000120327		"""Cadherins / Protocadherins : Clustered"""	8685	other	protocadherin		606340				10380929	Standard	NM_018934		Approved	PCDH-BETA14	uc003ljb.3	Q9Y5E9	OTTHUMG00000129619	ENST00000239449.4:c.909G>C	5.37:g.140603986G>C	ENSP00000239449:p.Leu303Phe					PCDHB14_uc011dal.1_Missense_Mutation_p.L150F	p.L303F	NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	909	+			303			Extracellular (Potential).|Cadherin 3.		B4DPE2|Q4FZA4|Q4KN11	Missense_Mutation	SNP	ENST00000239449.4	37	c.909G>C	CCDS4256.1	.	.	.	.	.	.	.	.	.	.	-	11.45	1.643497	0.29246	.	.	ENSG00000120327	ENST00000515856;ENST00000239449	T;T	0.55930	0.49;0.49	4.75	-2.9	0.05648	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.73651	0.3614	H	0.96777	3.88	0.09310	N	1	D	0.55172	0.97	D	0.63793	0.918	T	0.62863	-0.6764	9	0.87932	D	0	.	3.6987	0.08374	0.5526:0.1613:0.1797:0.1064	.	303	Q9Y5E9	PCDBE_HUMAN	F	150;303	ENSP00000444518:L150F;ENSP00000239449:L303F	ENSP00000239449:L303F	L	+	3	2	PCDHB14	140584170	0.000000	0.05858	0.000000	0.03702	0.651000	0.38670	-2.199000	0.01238	-0.280000	0.09154	0.655000	0.94253	TTG		PASS	0.353	PCDHB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251814.2	NM_018934		34	85	34	85	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140767870	140767870	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140767870T>A	ENST00000519479.1	+	1	419	c.419T>A	c.(418-420)cTg>cAg	p.L140Q	PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	140	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L140Q(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTTTGAGCTGCAAATAAGT	0.438																																						uc003lkc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(418-420)CTG>CAG		protocadherin gamma subfamily B, 4 isoform 1							69.0	68.0	68.0					5																	140767870		1929	4149	6078	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140767870T>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.419T>A	5.37:g.140767870T>A	ENSP00000428288:p.Leu140Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.L140Q	p.L140Q	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	419	+			140			Extracellular (Potential).|Cadherin 2.		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.419T>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	18.95	3.732421	0.69189	.	.	ENSG00000253953	ENST00000519479	T	0.53206	0.63	4.95	4.95	0.65309	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.74504	0.3725	M	0.93507	3.425	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.986;0.994	T	0.68697	-0.5340	9	0.87932	D	0	.	10.2602	0.43423	0.0:0.0804:0.0:0.9196	.	140;140	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	Q	140	ENSP00000428288:L140Q	ENSP00000428288:L140Q	L	+	2	0	PCDHGB4	140748054	0.935000	0.31712	0.635000	0.29338	0.981000	0.71138	6.165000	0.71891	1.995000	0.58328	0.529000	0.55759	CTG		PASS	0.438	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		38	51	38	51	---	---	---	---
PCDHGB4	8641	broad.mit.edu	37	5	140768532	140768532	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:140768532G>A	ENST00000519479.1	+	1	1081	c.1081G>A	c.(1081-1083)Gga>Aga	p.G361R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	361	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G361R(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCGAGCTGGGAACACATAT	0.428																																						uc003lkc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1081-1083)GGA>AGA		protocadherin gamma subfamily B, 4 isoform 1							114.0	108.0	110.0					5																	140768532		1895	4126	6021	SO:0001583	missense	8641				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768532G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1081G>A	5.37:g.140768532G>A	ENSP00000428288:p.Gly361Arg					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_Missense_Mutation_p.G361R	p.G361R	NM_003736	NP_003727	Q9UN71	PCDGG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1081	+			361			Cadherin 4.|Extracellular (Potential).		O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1081G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	27.6	4.845085	0.91197	.	.	ENSG00000253953	ENST00000519479	T	0.31769	1.48	5.09	5.09	0.68999	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.69405	0.3107	H	0.96269	3.795	0.42057	D	0.991147	D;D	0.60160	0.969;0.987	P;D	0.74023	0.907;0.982	T	0.80804	-0.1219	9	0.72032	D	0.01	.	18.4847	0.90824	0.0:0.0:1.0:0.0	.	361;361	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	R	361	ENSP00000428288:G361R	ENSP00000428288:G361R	G	+	1	0	PCDHGB4	140748716	0.614000	0.27017	0.913000	0.36048	0.018000	0.09664	1.779000	0.38624	2.525000	0.85131	0.655000	0.94253	GGA		PASS	0.428	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		35	78	35	78	---	---	---	---
CCDC69	26112	broad.mit.edu	37	5	150578600	150578600	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:150578600G>A	ENST00000355417.2	-	4	451	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	93								p.Q93*(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCTTTGCTGCTCATCCAGT	0.577																																						uc003ltq.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(277-279)CAG>TAG		coiled-coil domain containing 69							278.0	240.0	253.0					5																	150578600		2203	4300	6503	SO:0001587	stop_gained	26112							g.chr5:150578600G>A		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.277C>T	5.37:g.150578600G>A	ENSP00000347586:p.Gln93*					CCDC69_uc010jhu.2_5'UTR|CCDC69_uc011dcq.1_RNA	p.Q93*	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	400	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	93			Potential.		A8K9X6	Nonsense_Mutation	SNP	ENST00000355417.2	37	c.277C>T	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901282	0.72754	.	.	ENSG00000198624	ENST00000355417	.	.	.	4.94	4.05	0.47172	.	0.128509	0.35739	N	0.003011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06365	T	0.9	-23.7211	10.8152	0.46571	0.0:0.2006:0.7994:0.0	.	.	.	.	X	93	.	ENSP00000347586:Q93X	Q	-	1	0	CCDC69	150558793	0.980000	0.34600	0.729000	0.30791	0.459000	0.32528	2.553000	0.45837	1.251000	0.43983	0.491000	0.48974	CAG		PASS	0.577	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		73	152	73	152	---	---	---	---
HAVCR1	26762	broad.mit.edu	37	5	156479625	156479625	+	Silent	SNP	G	G	C	rs566987531		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:156479625G>C	ENST00000339252.3	-	3	952	c.420C>G	c.(418-420)acC>acG	p.T140T	HAVCR1_ENST00000544197.1_Silent_p.T140T|HAVCR1_ENST00000522693.1_Silent_p.T140T|HAVCR1_ENST00000523175.1_Silent_p.T140T|HAVCR1_ENST00000425854.1_Silent_p.T140T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.T140T(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAGTCGTGACGGTTGGAACAG	0.468																																						uc010jij.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(418-420)ACC>ACG		hepatitis A virus cellular receptor 1							406.0	402.0	403.0					5																	156479625		2140	4255	6395	SO:0001819	synonymous_variant	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479625G>C	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.420C>G	5.37:g.156479625G>C						HAVCR1_uc011ddl.1_5'UTR|HAVCR1_uc003lwi.2_Silent_p.T140T|HAVCR1_uc011ddm.1_Silent_p.T140T	p.T140T	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	605	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	140			Extracellular (Potential).|11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.|1.		O43656	Silent	SNP	ENST00000339252.3	37	c.420C>G	CCDS43392.1																																																																																				PASS	0.468	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1			103	269	103	269	---	---	---	---
KCNIP1	30820	broad.mit.edu	37	5	170148890	170148890	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:170148890G>A	ENST00000411494.1	+	5	343	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	KCNIP1_ENST00000390656.4_Missense_Mutation_p.G104S|KCNIP1_ENST00000377360.4_Missense_Mutation_p.G113S|KCNIP1_ENST00000328939.4_Missense_Mutation_p.G104S|KCNIP1_ENST00000520740.1_Missense_Mutation_p.G76S|KCNIP1_ENST00000434108.1_Missense_Mutation_p.G129S			Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	115	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of calcium ion (GO:0005513)|positive regulation of action potential (GO:0045760)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|potassium channel complex (GO:0034705)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|voltage-gated ion channel activity (GO:0005244)	p.G115S(1)|p.G113S(1)		autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTCAGACAGGCTCCGTGAA	0.552																																						uc003mas.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(343-345)GGC>AGC		Kv channel interacting protein 1 isoform 1							224.0	198.0	207.0					5																	170148890		2203	4300	6503	SO:0001583	missense	30820				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr5:170148890G>A	AF199597	CCDS34285.1, CCDS34286.1, CCDS4374.1, CCDS64312.1, CCDS64313.1	5q35	2013-01-10			ENSG00000182132	ENSG00000182132		"""EF-hand domain containing"""	15521	protein-coding gene	gene with protein product		604660				10676964	Standard	NM_001278339		Approved	KCHIP1	uc003map.3	Q9NZI2	OTTHUMG00000130442	ENST00000411494.1:c.343G>A	5.37:g.170148890G>A	ENSP00000395323:p.Gly115Ser					KCNIP1_uc003map.2_Missense_Mutation_p.G113S|KCNIP1_uc003mat.2_Missense_Mutation_p.G104S|KCNIP1_uc010jjp.2_Missense_Mutation_p.G76S|KCNIP1_uc010jjq.2_Missense_Mutation_p.G129S	p.G115S	NM_001034837	NP_001030009	Q9NZI2	KCIP1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	872	+	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	115			EF-hand 2.		B7Z7B4|Q3YAD0|Q3YAD1|Q3YAD2|Q3YAD3|Q5U822	Missense_Mutation	SNP	ENST00000411494.1	37	c.343G>A	CCDS34286.1	.	.	.	.	.	.	.	.	.	.	G	34	5.355910	0.95854	.	.	ENSG00000182132	ENST00000377360;ENST00000328939;ENST00000390656;ENST00000520740;ENST00000434108;ENST00000411494	D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	5.5	5.5	0.81552	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	H	0.95114	3.625	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.97110	0.998;1.0;0.98;0.985	D	0.99293	1.0899	9	.	.	.	.	16.8984	0.86107	0.0:0.0:1.0:0.0	.	129;104;115;113	Q3YAD0;Q3YAD2;Q9NZI2;Q3YAD3	.;.;KCIP1_HUMAN;.	S	113;104;104;76;129;115	ENSP00000366577:G113S;ENSP00000329686:G104S;ENSP00000375071:G104S;ENSP00000431102:G76S;ENSP00000414886:G129S;ENSP00000395323:G115S	.	G	+	1	0	KCNIP1	170081468	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.359000	0.97115	2.566000	0.86566	0.655000	0.94253	GGC		PASS	0.552	KCNIP1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000371760.1			44	89	44	89	---	---	---	---
DOK3	79930	broad.mit.edu	37	5	176931438	176931438	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:176931438C>A	ENST00000357198.4	-	6	1041	c.1037G>T	c.(1036-1038)gGa>gTa	p.G346V	DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000501403.2_Missense_Mutation_p.G290V	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	346	Pro-rich.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.G346V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGCTCAGGTCCTGGTGGCAT	0.711																																						uc003mhk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1036-1038)GGA>GTA		docking protein 3 isoform 1							23.0	26.0	25.0					5																	176931438		2203	4299	6502	SO:0001583	missense	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176931438C>A	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.1037G>T	5.37:g.176931438C>A	ENSP00000349727:p.Gly346Val					DOK3_uc003mhh.3_Intron|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Missense_Mutation_p.G290V	p.G346V	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		6	1042	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	346			Pro-rich.		E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	c.1037G>T	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	c	4.375	0.069091	0.08436	.	.	ENSG00000146094	ENST00000357198;ENST00000501403	T;T	0.32272	2.18;1.46	3.75	1.84	0.25277	.	1.822090	0.03618	N	0.235808	T	0.22859	0.0552	L	0.29908	0.895	0.19575	N	0.999969	B	0.12013	0.005	B	0.15052	0.012	T	0.17653	-1.0362	10	0.30854	T	0.27	-11.0061	4.2524	0.10702	0.1819:0.6145:0.0:0.2037	.	346	Q7L591	DOK3_HUMAN	V	346;290	ENSP00000349727:G346V;ENSP00000421688:G290V	ENSP00000349727:G346V	G	-	2	0	DOK3	176864044	0.001000	0.12720	0.002000	0.10522	0.187000	0.23431	0.679000	0.25291	0.223000	0.20920	0.306000	0.20318	GGA		PASS	0.711	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		18	28	18	28	---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178413315	178413315	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr5:178413315G>T	ENST00000517717.1	-	9	1978	c.1940C>A	c.(1939-1941)gCc>gAc	p.A647D	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.A647D			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	647					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)	p.A647D(1)		NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACAGACCGCGGCCCCAGGCTC	0.647																																						uc003mjr.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|breast(1)|pancreas(1)	8						c.(1939-1941)GCC>GAC		glutamate receptor, metabotropic 6 precursor							39.0	38.0	38.0					5																	178413315		2203	4300	6503	SO:0001583	missense	2916				detection of visible light|visual perception	integral to plasma membrane		g.chr5:178413315G>T	U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.1940C>A	5.37:g.178413315G>T	ENSP00000430767:p.Ala647Asp					GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Missense_Mutation_p.A230D|GRM6_uc003mjs.1_Missense_Mutation_p.A267D	p.A647D	NM_000843	NP_000834	O15303	GRM6_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)	8	2119	-	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	647			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517717.1	37	c.1940C>A	CCDS4442.1	.	.	.	.	.	.	.	.	.	.	G	4.157	0.027528	0.08054	.	.	ENSG00000113262	ENST00000319065;ENST00000231188;ENST00000517717	D;D	0.86956	-2.19;-2.19	5.02	-1.57	0.08506	GPCR, family 3, C-terminal (2);	.	.	.	.	T	0.75177	0.3814	N	0.04746	-0.17	0.09310	N	1	D;B	0.61697	0.99;0.002	P;B	0.60012	0.867;0.006	T	0.67711	-0.5600	9	0.08381	T	0.77	.	0.2159	0.00162	0.3268:0.1413:0.2436:0.2884	.	803;647	E7EX65;O15303	.;GRM6_HUMAN	D	803;647;647	ENSP00000231188:A647D;ENSP00000430767:A647D	ENSP00000231188:A647D	A	-	2	0	GRM6	178345921	0.002000	0.14202	0.001000	0.08648	0.074000	0.17049	1.393000	0.34497	-0.014000	0.14175	-0.521000	0.04368	GCC		PASS	0.647	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253474.2			13	25	13	25	---	---	---	---
SYCP2L	221711	broad.mit.edu	37	6	10961551	10961551	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:10961551G>C	ENST00000283141.6	+	27	2565	c.2269G>C	c.(2269-2271)Gag>Cag	p.E757Q		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	757						nucleus (GO:0005634)		p.E757Q(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			CAATAAACTAGAGCGCTTTCA	0.378																																						uc003mzo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2269-2271)GAG>CAG		synaptonemal complex protein 2-like							110.0	100.0	103.0					6																	10961551		1832	4102	5934	SO:0001583	missense	221711					nucleus		g.chr6:10961551G>C	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2269G>C	6.37:g.10961551G>C	ENSP00000283141:p.Glu757Gln					SYCP2L_uc010jow.2_Missense_Mutation_p.E377Q	p.E757Q	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Epithelial(50;0.239)		27	2565	+	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	757					A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	37	c.2269G>C	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	G	9.955	1.221091	0.22457	.	.	ENSG00000153157	ENST00000283141	T	0.27256	1.68	5.49	3.67	0.42095	.	0.375115	0.25083	N	0.033264	T	0.12263	0.0298	M	0.67953	2.075	0.24522	N	0.994151	P	0.42203	0.773	B	0.34180	0.177	T	0.03364	-1.1044	10	0.66056	D	0.02	-11.6487	12.4462	0.55651	0.0:0.3727:0.6273:0.0	.	757	Q5T4T6	SYC2L_HUMAN	Q	757	ENSP00000283141:E757Q	ENSP00000283141:E757Q	E	+	1	0	SYCP2L	11069537	0.233000	0.23772	0.006000	0.13384	0.029000	0.11900	0.922000	0.28734	0.629000	0.30376	-0.175000	0.13238	GAG		PASS	0.378	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299		22	37	22	37	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12124109	12124109	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:12124109C>T	ENST00000379388.2	+	4	4413	c.4081C>T	c.(4081-4083)Cgg>Tgg	p.R1361W	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1361W(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGGATGTCACCGGGAAATGAG	0.433																																						uc003nac.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4081-4083)CGG>TGG		human immunodeficiency virus type I enhancer							85.0	81.0	82.0					6																	12124109		1938	4162	6100	SO:0001583	missense	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124109C>T	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4081C>T	6.37:g.12124109C>T	ENSP00000368698:p.Arg1361Trp					HIVEP1_uc011diq.1_RNA	p.R1361W	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	4260	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1361					B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	ENST00000379388.2	37	c.4081C>T	CCDS43426.1	.	.	.	.	.	.	.	.	.	.	C	17.10	3.303626	0.60305	.	.	ENSG00000095951	ENST00000379388	T	0.26223	1.75	5.79	3.77	0.43336	.	0.000000	0.33650	N	0.004681	T	0.46054	0.1373	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56384	-0.7988	9	.	.	.	-20.059	15.4646	0.75390	0.372:0.628:0.0:0.0	.	1361	P15822	ZEP1_HUMAN	W	1361	ENSP00000368698:R1361W	.	R	+	1	2	HIVEP1	12232095	0.993000	0.37304	1.000000	0.80357	0.994000	0.84299	0.407000	0.21049	1.386000	0.46466	0.655000	0.94253	CGG		PASS	0.433	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		15	54	15	54	---	---	---	---
PRSS16	10279	broad.mit.edu	37	6	27215751	27215751	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:27215751C>A	ENST00000230582.3	+	2	176	c.161C>A	c.(160-162)gCa>gAa	p.A54E	PRSS16_ENST00000421826.2_Missense_Mutation_p.A54E	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	54					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)	p.A54E(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCAGGTGCTGCAGCCCTCCCA	0.642																																					NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|lung(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(160-162)GCA>GAA		protease, serine, 16 precursor							47.0	47.0	47.0					6																	27215751		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27215751C>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.161C>A	6.37:g.27215751C>A	ENSP00000230582:p.Ala54Glu					PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.A54E|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank|PRSS16_uc003njc.1_5'Flank	p.A54E	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			2	173	+			54					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.161C>A	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	c	9.439	1.087607	0.20390	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000343467;ENST00000348953	T;T	0.47528	0.84;2.54	2.54	-5.09	0.02920	.	1.502820	0.03740	N	0.254909	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B;B	0.18863	0.0;0.031	B;B	0.13407	0.0;0.009	T	0.04915	-1.0918	10	0.02654	T	1	1.2785	1.0253	0.01526	0.147:0.1889:0.3107:0.3534	.	54;54	F2Z2N5;Q9NQE7	.;TSSP_HUMAN	E	54	ENSP00000404349:A54E;ENSP00000230582:A54E	ENSP00000230582:A54E	A	+	2	0	PRSS16	27323730	0.000000	0.05858	0.000000	0.03702	0.170000	0.22686	-2.897000	0.00706	-1.508000	0.01800	-1.129000	0.01985	GCA		PASS	0.642	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2			38	46	38	46	---	---	---	---
HIST1H2AK	8330	broad.mit.edu	37	6	27805777	27805777	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:27805777G>A	ENST00000330180.2	-	1	340	c.341C>T	c.(340-342)gCc>gTc	p.A114V	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	114						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A114V(1)		breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						CAGCAGCACGGCCTGGATATT	0.577																																						uc003njs.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(340-342)GCC>GTC		histone cluster 1, H2ak							96.0	97.0	97.0					6																	27805777		2203	4300	6503	SO:0001583	missense	8330				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27805777G>A	Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.341C>T	6.37:g.27805777G>A	ENSP00000330307:p.Ala114Val					HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank	p.A114V	NM_003510	NP_003501	P0C0S8	H2A1_HUMAN			1	341	-			114					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000330180.2	37	c.341C>T	CCDS4632.1	.	.	.	.	.	.	.	.	.	.	.	14.43	2.533742	0.45073	.	.	ENSG00000184348	ENST00000330180	T	0.45668	0.89	4.28	4.28	0.50868	.	0.000000	0.30949	U	0.008553	T	0.51702	0.1690	.	.	.	0.38394	D	0.945486	.	.	.	.	.	.	T	0.59075	-0.7522	7	0.72032	D	0.01	.	16.5671	0.84601	0.0:0.0:1.0:0.0	.	.	.	.	V	114	ENSP00000330307:A114V	ENSP00000330307:A114V	A	-	2	0	HIST1H2AK	27913756	1.000000	0.71417	0.998000	0.56505	0.579000	0.36224	9.459000	0.97638	2.295000	0.77249	0.555000	0.69702	GCC		PASS	0.577	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043814.1	NM_003510		75	68	75	68	---	---	---	---
HIST1H4L	8368	broad.mit.edu	37	6	27841217	27841217	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:27841217G>A	ENST00000355981.2	-	1	72	c.72C>T	c.(70-72)cgC>cgT	p.R24R	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	24					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.R24R(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						GAATGTTGTCGCGCAGAACTT	0.597																																						uc003njz.2																			2	Substitution - coding silent(2)		lung(1)|central_nervous_system(1)	ovary(1)|breast(1)	2						c.(70-72)CGC>CGT		histone cluster 1, H4l							71.0	62.0	65.0					6																	27841217		2203	4300	6503	SO:0001819	synonymous_variant	8368				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27841217G>A	X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"""Histones / Replication-dependent"""	4791	protein-coding gene	gene with protein product		602831	"""H4 histone family, member K"", ""histone 1, H4l"""	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.72C>T	6.37:g.27841217G>A						HIST1H3I_uc003njy.2_5'Flank	p.R24R	NM_003546	NP_003537	P62805	H4_HUMAN			1	73	-			24					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	ENST00000355981.2	37	c.72C>T	CCDS4637.1																																																																																				PASS	0.597	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043513.1	NM_003546		24	47	24	47	---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30121868	30121868	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:30121868C>A	ENST00000449742.2	-	7	1399	c.1324G>T	c.(1324-1326)Gtg>Ttg	p.V442L	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	442	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.V442L(1)		ovary(1)	1						GTGAAGGTCACCCAGCCCACC	0.617																																						uc003npo.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1324-1326)GTG>TTG		tripartite motif-containing 10 isoform 1							55.0	49.0	51.0					6																	30121868		1510	2707	4217	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30121868C>A	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.1324G>T	6.37:g.30121868C>A	ENSP00000397073:p.Val442Leu					TRIM10_uc003npn.2_Intron	p.V442L	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			7	1400	-			442			B30.2/SPRY.		A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.1324G>T	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545875	0.65198	.	.	ENSG00000204613	ENST00000449742;ENST00000376706	T	0.55930	0.49	6.01	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.136830	0.33515	N	0.004836	T	0.33818	0.0876	L	0.53780	1.695	0.80722	D	1	B	0.30542	0.284	B	0.35278	0.199	T	0.33137	-0.9880	10	0.42905	T	0.14	.	9.1052	0.36694	0.0:0.7754:0.1464:0.0782	.	442	Q9UDY6	TRI10_HUMAN	L	442	ENSP00000397073:V442L	ENSP00000365896:V442L	V	-	1	0	TRIM10	30229847	0.448000	0.25681	1.000000	0.80357	0.868000	0.49771	1.090000	0.30902	1.513000	0.48852	0.643000	0.83706	GTG		PASS	0.617	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			16	39	16	39	---	---	---	---
TRIM26	7726	broad.mit.edu	37	6	30166844	30166844	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:30166844C>T	ENST00000454678.2	-	4	473	c.37G>A	c.(37-39)Gag>Aag	p.E13K	TRIM26_ENST00000437089.1_Missense_Mutation_p.E13K|TRIM26_ENST00000453195.1_Missense_Mutation_p.E13K|TRIM26_ENST00000487829.1_Intron	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	13					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.E13K(1)		lung(1)|ovary(2)	3						CAGGTCACCTCCTCTTCCAGG	0.587																																						uc003npr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(37-39)GAG>AAG		tripartite motif-containing 26							67.0	60.0	63.0					6																	30166844		1509	2707	4216	SO:0001583	missense	7726						DNA binding|zinc ion binding	g.chr6:30166844C>T	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.37G>A	6.37:g.30166844C>T	ENSP00000410446:p.Glu13Lys					TRIM26_uc003nps.2_Missense_Mutation_p.E13K|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Missense_Mutation_p.E13K|TRIM26_uc003npu.1_Missense_Mutation_p.E13K	p.E13K	NM_003449	NP_003440	Q12899	TRI26_HUMAN			3	246	-			13					A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	37	c.37G>A	CCDS4678.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179503	0.78564	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	D;D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9;-1.9	5.59	5.59	0.84812	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.50627	D	0.000106	D	0.90082	0.6902	M	0.76002	2.32	0.38872	D	0.956718	D	0.58970	0.984	P	0.62298	0.9	D	0.91199	0.4990	10	0.87932	D	0	.	17.0723	0.86578	0.0:1.0:0.0:0.0	.	13	Q12899	TRI26_HUMAN	K	13	ENSP00000391879:E13K;ENSP00000410446:E13K;ENSP00000395491:E13K;ENSP00000413673:E13K;ENSP00000387530:E13K;ENSP00000400920:E13K	ENSP00000413673:E13K	E	-	1	0	TRIM26	30274823	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.120000	0.77153	2.631000	0.89168	0.643000	0.83706	GAG		PASS	0.587	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	NM_003449		14	25	14	25	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31498659	31498659	+	Silent	SNP	T	T	A	rs575065677		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:31498659T>A	ENST00000396172.1	-	10	1797	c.1167A>T	c.(1165-1167)acA>acT	p.T389T	DDX39B_ENST00000462421.1_5'UTR|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Silent_p.T404T|DDX39B_ENST00000415382.2_Silent_p.T311T|DDX39B_ENST00000458640.1_Silent_p.T389T|DDX39B_ENST00000376177.2_Missense_Mutation_p.H397L	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	389	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)	p.T389T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CGGACACAAATGTGATAGCCA	0.527																																						uc003ntt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1165-1167)ACA>ACT		HLA-B associated transcript 1							77.0	77.0	77.0					6																	31498659		1511	2709	4220	SO:0001819	synonymous_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31498659T>A	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.1167A>T	6.37:g.31498659T>A						BAT1_uc003ntq.2_Silent_p.T122T|BAT1_uc003ntr.2_Silent_p.T196T|BAT1_uc003nts.2_Missense_Mutation_p.H397L|BAT1_uc011dnn.1_Silent_p.T311T|BAT1_uc003ntu.2_Silent_p.T389T|BAT1_uc003ntv.2_Silent_p.T389T	p.T389T	NM_004640	NP_004631	Q13838	DX39B_HUMAN			10	1798	-			389			Helicase C-terminal.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Silent	SNP	ENST00000396172.1	37	c.1167A>T	CCDS4697.1	.	.	.	.	.	.	.	.	.	.	T	15.02	2.708869	0.48517	.	.	ENSG00000198563	ENST00000376177;ENST00000417023	T	0.35048	1.33	4.53	-6.39	0.01951	.	.	.	.	.	T	0.11452	0.0279	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.10450	0.005	T	0.30179	-0.9987	8	0.87932	D	0	-9.7715	8.8291	0.35074	0.0:0.1523:0.2116:0.6361	.	397	Q5STU3	.	L	397;153	ENSP00000365347:H397L	ENSP00000365347:H397L	H	-	2	0	DDX39B	31606638	0.000000	0.05858	0.870000	0.34147	0.891000	0.51852	-2.901000	0.00704	-1.346000	0.02211	-0.468000	0.05107	CAT		PASS	0.527	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		22	42	22	42	---	---	---	---
DDAH2	23564	broad.mit.edu	37	6	31695071	31695071	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:31695071C>T	ENST00000375789.2	-	6	1431	c.801G>A	c.(799-801)aaG>aaA	p.K267K	DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375792.3_Silent_p.K267K|DDAH2_ENST00000375787.2_Silent_p.K267K			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	267					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|negative regulation of apoptotic process (GO:0043066)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of nitric oxide biosynthetic process (GO:0045429)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)	p.K267K(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CGGCGCCAGCCTTCTCCAGTT	0.622																																						uc003nwp.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(799-801)AAG>AAA		dimethylarginine dimethylaminohydrolase 2	L-Citrulline(DB00155)						86.0	103.0	97.0					6																	31695071		1508	2708	4216	SO:0001819	synonymous_variant	23564				anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding	g.chr6:31695071C>T	AF070667	CCDS4718.1	6p21	2010-02-17			ENSG00000213722	ENSG00000213722	3.5.3.18		2716	protein-coding gene	gene with protein product		604744				10493931	Standard	XM_005248974		Approved		uc003nwq.3	O95865	OTTHUMG00000031212	ENST00000375789.2:c.801G>A	6.37:g.31695071C>T						DDAH2_uc003nwq.2_Silent_p.K267K	p.K267K	NM_013974	NP_039268	O95865	DDAH2_HUMAN			6	1432	-			267					A2BEZ7	Silent	SNP	ENST00000375789.2	37	c.801G>A	CCDS4718.1																																																																																				PASS	0.622	DDAH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076432.2			72	106	72	106	---	---	---	---
CYP21A2	1589	broad.mit.edu	37	6	32007589	32007589	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:32007589G>C	ENST00000418967.2	+	6	873	c.715G>C	c.(715-717)Gag>Cag	p.E239Q	CYP21A2_ENST00000435122.2_Missense_Mutation_p.E209Q	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	238			M -> K (in AH3; salt wasting form; dbSNP:rs6476). {ECO:0000269|PubMed:10408786, ECO:0000269|PubMed:15110320, ECO:0000269|PubMed:1644925}.		glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)	p.E239Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	TCACATCGTGGAGATGCAGCT	0.607																																					Melanoma(174;1669 1998 3915 34700 46447)	uc003nze.1																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)GAG>CAG		cytochrome P450, family 21, subfamily A,							110.0	115.0	113.0					6																	32007589		2203	4300	6503	SO:0001583	missense	1589				glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding	g.chr6:32007589G>C	X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.715G>C	6.37:g.32007589G>C	ENSP00000408860:p.Glu239Gln					CYP21A2_uc003nzf.1_Missense_Mutation_p.E209Q	p.E239Q	NM_000500	NP_000491	P08686	CP21A_HUMAN			6	833	+			238					A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	ENST00000418967.2	37	c.715G>C	CCDS4735.1	.	.	.	.	.	.	.	.	.	.	g	2.578	-0.298100	0.05532	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.68624	-0.34;-0.34	4.11	0.846	0.18955	.	1.106430	0.06897	N	0.805274	T	0.17492	0.0420	N	0.13352	0.335	0.09310	N	1	B;B	0.26902	0.163;0.098	B;B	0.30029	0.11;0.046	T	0.26087	-1.0113	10	0.02654	T	1	.	2.8598	0.05583	0.3188:0.2443:0.4369:0.0	.	209;239	Q5ST44;Q16874	.;.	Q	239;209	ENSP00000408860:E239Q;ENSP00000415043:E209Q	ENSP00000408860:E239Q	E	+	1	0	CYP21A2	32115568	0.000000	0.05858	0.012000	0.15200	0.432000	0.31715	0.423000	0.21313	0.421000	0.25980	0.556000	0.70494	GAG		PASS	0.607	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500		9	28	9	28	---	---	---	---
PPARD	5467	broad.mit.edu	37	6	35392307	35392307	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:35392307G>C	ENST00000311565.4	+	8	1178	c.829G>C	c.(829-831)Gac>Cac	p.D277H	PPARD_ENST00000360694.3_Missense_Mutation_p.D277H|PPARD_ENST00000448077.2_Missense_Mutation_p.D238H|PPARD_ENST00000540939.1_Missense_Mutation_p.D174H|PPARD_ENST00000444397.1_Missense_Mutation_p.D277H|PPARD_ENST00000337400.2_Missense_Mutation_p.D277H|PPARD_ENST00000418635.2_Missense_Mutation_p.D179H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	277	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D277H(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	CTTCCTCAACGACCAGGTTAC	0.602																																						uc003okm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(829-831)GAC>CAC		peroxisome proliferative activated receptor,	Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)						93.0	78.0	83.0					6																	35392307		2203	4300	6503	SO:0001583	missense	5467				apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr6:35392307G>C	L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.829G>C	6.37:g.35392307G>C	ENSP00000310928:p.Asp277His					PPARD_uc003okl.2_Missense_Mutation_p.D277H|PPARD_uc003okn.2_Missense_Mutation_p.D277H|PPARD_uc011dtb.1_Missense_Mutation_p.D238H|PPARD_uc011dtc.1_Missense_Mutation_p.D179H	p.D277H	NM_006238	NP_006229	Q03181	PPARD_HUMAN			7	1138	+			277			Ligand-binding.		A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	ENST00000311565.4	37	c.829G>C	CCDS4803.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642016	0.87859	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97;-2.97;-2.97	5.82	5.82	0.92795	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.091491	0.85682	D	0.000000	D	0.97739	0.9258	H	0.96970	3.915	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	0.98374	1.0555	10	0.87932	D	0	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	179;238;277;277	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	H	238;277;179;277;277;277;174	ENSP00000414372:D238H;ENSP00000353916:D277H;ENSP00000413314:D179H;ENSP00000410837:D277H;ENSP00000310928:D277H;ENSP00000337063:D277H;ENSP00000443759:D174H	ENSP00000310928:D277H	D	+	1	0	PPARD	35500285	1.000000	0.71417	0.987000	0.45799	0.869000	0.49853	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	GAC		PASS	0.602	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040288.1	NM_006238		6	40	6	40	---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43414987	43414987	+	Splice_Site	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:43414987G>T	ENST00000372530.4	+	17	3761	c.3546G>T	c.(3544-3546)ggG>ggT	p.G1182G	ABCC10_ENST00000244533.3_Splice_Site_p.G1154G	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1182	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.G1154G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CTCCCCCAGGGCTGGTGGGCT	0.617																																						uc003ouy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(1)	7						c.(3544-3546)GGG>GGT		ATP-binding cassette, sub-family C, member 10							105.0	97.0	100.0					6																	43414987		2203	4300	6503	SO:0001630	splice_region_variant	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43414987G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.3545-1G>T	6.37:g.43414987G>T						ABCC10_uc003ouz.1_Silent_p.G1154G|ABCC10_uc010jyo.1_Silent_p.G288G	p.G1182G	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		17	3761	+	all_lung(25;0.00536)		1182			ABC transmembrane type-1 2.|Helical; (Potential).		Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Silent	SNP	ENST00000372530.4	37	c.3546G>T	CCDS56430.1																																																																																				PASS	0.617	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	Silent	42	165	42	165	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44273518	44273518	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:44273518C>T	ENST00000244571.4	-	10	1308	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial									p.V436M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACCAGGCCACTTCAGCTTTG	0.522																																						uc010jza.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1306-1308)GTG>ATG		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						101.0	103.0	102.0					6																	44273518		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44273518C>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.1306G>A	6.37:g.44273518C>T	ENSP00000244571:p.Val436Met					SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	p.V436M	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		10	1309	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		436						Missense_Mutation	SNP	ENST00000244571.4	37	c.1306G>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775058	0.70107	.	.	ENSG00000124608	ENST00000244571	T	0.72725	-0.68	4.62	3.72	0.42706	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.057966	0.64402	D	0.000002	T	0.80380	0.4612	M	0.83012	2.62	0.58432	D	0.999998	D	0.76494	0.999	D	0.75484	0.986	T	0.81693	-0.0817	10	0.54805	T	0.06	-21.8562	12.3426	0.55103	0.0:0.9157:0.0:0.0843	.	436	Q5JTZ9	SYAM_HUMAN	M	436	ENSP00000244571:V436M	ENSP00000244571:V436M	V	-	1	0	AARS2	44381496	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.797000	0.55514	2.395000	0.81488	0.655000	0.94253	GTG		PASS	0.522	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		79	137	79	137	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49701449	49701449	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:49701449C>A	ENST00000393666.1	-	4	396	c.390G>T	c.(388-390)aaG>aaT	p.K130N	CRISP3_ENST00000423399.2_Missense_Mutation_p.K40N|CRISP3_ENST00000433368.2_Missense_Mutation_p.K153N|CRISP3_ENST00000371159.4_Missense_Mutation_p.K161N|CRISP3_ENST00000263045.4_Missense_Mutation_p.K143N			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	130	SCP.			K -> R (in Ref. 3; BAD97100). {ECO:0000305}.	defense response (GO:0006952)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|specific granule (GO:0042581)		p.K130N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CGTTGGGAGTCTTTGGCCCTA	0.403																																						uc003ozs.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(388-390)AAG>AAT		cysteine-rich secretory protein 3 precursor							135.0	126.0	129.0					6																	49701449		2203	4300	6503	SO:0001583	missense	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49701449C>A	X94323	CCDS4929.1, CCDS4929.2, CCDS55019.1	6p12.3	2008-02-05			ENSG00000096006	ENSG00000096006			16904	protein-coding gene	gene with protein product						8665901, 12223513	Standard	NM_006061		Approved	SGP28, CRISP-3, CRS3, dJ442L6.3, Aeg2	uc003ozs.3	P54108	OTTHUMG00000014823	ENST00000393666.1:c.390G>T	6.37:g.49701449C>A	ENSP00000377274:p.Lys130Asn						p.K130N	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		5	405	-	Lung NSC(77;0.0161)		130	K -> R (in Ref. 4; BAD97100).				A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Missense_Mutation	SNP	ENST00000393666.1	37	c.390G>T		.	.	.	.	.	.	.	.	.	.	C	9.644	1.139669	0.21205	.	.	ENSG00000096006	ENST00000263045;ENST00000433368;ENST00000393666;ENST00000423399;ENST00000371159;ENST00000354620	T;T;T;T;T;T	0.09723	2.95;2.95;2.95;3.28;2.95;2.95	4.8	-2.3	0.06785	CAP domain (3);	0.352879	0.21506	U	0.073452	T	0.02888	0.0086	N	0.13371	0.34	0.09310	N	1	D	0.63046	0.992	D	0.67900	0.954	T	0.33240	-0.9876	10	0.12430	T	0.62	.	0.9575	0.01388	0.1447:0.2862:0.2846:0.2845	.	130	P54108	CRIS3_HUMAN	N	143;153;130;40;161;153	ENSP00000263045:K143N;ENSP00000389026:K153N;ENSP00000377274:K130N;ENSP00000410469:K40N;ENSP00000360201:K161N;ENSP00000346636:K153N	ENSP00000263045:K143N	K	-	3	2	CRISP3	49809408	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.772000	0.04694	-0.092000	0.12417	0.585000	0.79938	AAG		PASS	0.403	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		24	116	24	116	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51524709	51524709	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:51524709G>T	ENST00000371117.3	-	61	10490	c.10215C>A	c.(10213-10215)tgC>tgA	p.C3405*		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3405					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.C3405*(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGTCTGTTTGCAGATGAATC	0.353																																						uc003pah.1																			1	Substitution - Nonsense(1)		lung(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(10213-10215)TGC>TGA		fibrocystin isoform 1							61.0	53.0	55.0					6																	51524709		2203	4300	6503	SO:0001587	stop_gained	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.chr6:51524709G>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.10215C>A	6.37:g.51524709G>T	ENSP00000360158:p.Cys3405*						p.C3405*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			61	10491	-	Lung NSC(77;0.0605)		3405			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Nonsense_Mutation	SNP	ENST00000371117.3	37	c.10215C>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	52	19.286741	0.99917	.	.	ENSG00000170927	ENST00000371117	.	.	.	5.48	2.62	0.31277	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8857	0.29648	0.3283:0.0:0.6717:0.0	.	.	.	.	X	3405	.	ENSP00000360158:C3405X	C	-	3	2	PKHD1	51632668	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	1.561000	0.36342	0.246000	0.21394	0.655000	0.94253	TGC		PASS	0.353	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		25	47	25	47	---	---	---	---
COL19A1	1310	broad.mit.edu	37	6	70877932	70877932	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:70877932G>C	ENST00000322773.4	+	38	2563	c.2461G>C	c.(2461-2463)Gaa>Caa	p.E821Q	COL19A1_ENST00000393344.1_Missense_Mutation_p.E443Q	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	821				GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358). {ECO:0000305}.	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.E821Q(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						TCCATTTAATGAACGAAACGG	0.289																																						uc003pfc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(2461-2463)GAA>CAA		alpha 1 type XIX collagen precursor							48.0	50.0	49.0					6																	70877932		2198	4294	6492	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70877932G>C		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.2461G>C	6.37:g.70877932G>C	ENSP00000316030:p.Glu821Gln						p.E821Q	NM_001858	NP_001849	Q14993	COJA1_HUMAN			38	2578	+			821	GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358).				Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.2461G>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159647	0.38119	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.91843	-2.92;-2.86	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.92789	0.7707	L	0.40543	1.245	0.47183	D	0.999342	D	0.76494	0.999	D	0.68943	0.961	D	0.91080	0.4899	10	0.33940	T	0.23	.	18.5012	0.90882	0.0:0.0:1.0:0.0	.	821	Q14993	COJA1_HUMAN	Q	821;443	ENSP00000316030:E821Q;ENSP00000377013:E443Q	ENSP00000316030:E821Q	E	+	1	0	COL19A1	70934653	1.000000	0.71417	0.978000	0.43139	0.277000	0.26821	6.043000	0.71004	2.813000	0.96785	0.561000	0.74099	GAA		PASS	0.289	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			36	63	36	63	---	---	---	---
MANEA	79694	broad.mit.edu	37	6	96053844	96053844	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:96053844G>T	ENST00000358812.4	+	5	1086	c.952G>T	c.(952-954)Gat>Tat	p.D318Y	MANEA_ENST00000474553.1_3'UTR	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	318	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)	p.D318Y(1)|p.D318H(1)		breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAGTGGTTTTGATGGAATTTA	0.348																																						uc003poo.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(952-954)GAT>TAT		mannosidase, endo-alpha							74.0	74.0	74.0					6																	96053844		2203	4300	6503	SO:0001583	missense	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96053844G>T	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.952G>T	6.37:g.96053844G>T	ENSP00000351669:p.Asp318Tyr						p.D318Y	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	5	1092	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	318			Catalytic (Probable).|Lumenal (Potential).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.952G>T	CCDS5032.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771740	0.69992	.	.	ENSG00000172469	ENST00000358812	D	0.92249	-3.0	6.17	4.42	0.53409	.	0.043021	0.85682	D	0.000000	D	0.95484	0.8533	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.95763	0.8802	10	0.72032	D	0.01	-19.8588	12.3404	0.55091	0.1349:0.0:0.8651:0.0	.	318	Q5SRI9	MANEA_HUMAN	Y	318	ENSP00000351669:D318Y	ENSP00000351669:D318Y	D	+	1	0	MANEA	96160565	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.314000	0.72848	0.951000	0.37770	0.655000	0.94253	GAT		PASS	0.348	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		10	82	10	82	---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99283327	99283327	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:99283327C>A	ENST00000328345.5	+	1	748	c.578C>A	c.(577-579)cCc>cAc	p.P193H		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	193					astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P193H(1)		endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		TACTCGCAGCCCAGCTTCACG	0.736																																						uc003ppe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)CCC>CAC		POU domain, class 3, transcription factor 2							6.0	7.0	6.0					6																	99283327		2017	4023	6040	SO:0001583	missense	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283327C>A	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.578C>A	6.37:g.99283327C>A	ENSP00000329170:p.Pro193His						p.P193H	NM_005604	NP_005595	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	748	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	193					Q14960|Q86V54|Q9UJL0	Missense_Mutation	SNP	ENST00000328345.5	37	c.578C>A	CCDS5040.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.87|13.87	2.364780|2.364780	0.41902|0.41902	.|.	.|.	ENSG00000184486|ENSG00000184486	ENST00000425116|ENST00000328345	.|T	.|0.54071	.|0.59	3.11|3.11	2.23|2.23	0.28157|0.28157	.|.	.|1.604320	.|0.05229	.|U	.|0.510061	.|T	.|0.44159	.|0.1280	M|M	0.64997|0.64997	1.995|1.995	0.50632|0.50632	D|D	0.999887|0.999887	.|D	.|0.56968	.|0.978	.|P	.|0.48189	.|0.57	.|T	.|0.50242	.|-0.8851	.|10	.|0.87932	.|D	.|0	.|.	8.4551|8.4551	0.32895|0.32895	0.0:0.8758:0.0:0.1242|0.0:0.8758:0.0:0.1242	.|.	.|193	.|P20265	.|PO3F2_HUMAN	.|H	-1|193	.|ENSP00000329170:P193H	.|ENSP00000329170:P193H	.|P	+|+	.|2	.|0	POU3F2|POU3F2	99390048|99390048	0.139000|0.139000	0.22563|0.22563	1.000000|1.000000	0.80357|0.80357	0.523000|0.523000	0.34469|0.34469	1.534000|1.534000	0.36051|0.36051	0.647000|0.647000	0.30713|0.30713	0.184000|0.184000	0.17185|0.17185	.|CCC		PASS	0.736	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			5	5	5	5	---	---	---	---
AK9	221264	broad.mit.edu	37	6	109871492	109871492	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:109871492A>G	ENST00000424296.2	-	25	2841	c.2765T>C	c.(2764-2766)aTg>aCg	p.M922T	AK9_ENST00000341338.6_Start_Codon_SNP_p.M1T|AK9_ENST00000355283.1_Start_Codon_SNP_p.M1T	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	922					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)	p.M1T(2)|p.M922T(1)									TCTCTCCTTCATTTTATCTTC	0.358																																						uc003ptn.2																			3	Substitution - Missense(3)		lung(3)	ovary(1)	1						c.(2764-2766)ATG>ACG		adenylate kinase domain containing 1 isoform 1							113.0	115.0	114.0					6																	109871492		2203	4300	6503	SO:0001583	missense	221264				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity	g.chr6:109871492A>G	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.2765T>C	6.37:g.109871492A>G	ENSP00000410186:p.Met922Thr					AKD1_uc011eat.1_Missense_Mutation_p.M1T	p.M922T	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN			25	2842	-			922					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.2765T>C	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	A	7.719	0.696745	0.15106	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.66460	0.01;-0.04;-0.21	5.61	0.35	0.16037	.	0.825571	0.10919	N	0.619652	T	0.19604	0.0471	N	0.08118	0	0.80722	D	1	B;B	0.14012	0.009;0.005	B;B	0.13407	0.009;0.002	T	0.15723	-1.0427	9	.	.	.	.	5.8473	0.18673	0.5677:0.2362:0.1961:0.0	.	1;922	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	T	922;1;1	ENSP00000410186:M922T;ENSP00000347431:M1T;ENSP00000344637:M1T	.	M	-	2	0	AKD1	109978185	0.004000	0.15560	0.009000	0.14445	0.255000	0.26057	0.629000	0.24538	-0.159000	0.11021	0.460000	0.39030	ATG		PASS	0.358	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		22	94	22	94	---	---	---	---
RFX6	222546	broad.mit.edu	37	6	117241612	117241612	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:117241612C>T	ENST00000332958.2	+	12	1338	c.1322C>T	c.(1321-1323)aCt>aTt	p.T441I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	441					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)	p.T441I(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GGTATCTACACTGAACGTAAG	0.428																																						uc003pxm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1321-1323)ACT>ATT		regulatory factor X, 6							169.0	149.0	155.0					6																	117241612		2203	4300	6503	SO:0001583	missense	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117241612C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1322C>T	6.37:g.117241612C>T	ENSP00000332208:p.Thr441Ile						p.T441I	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			12	1385	+			441					Q5T6B3	Missense_Mutation	SNP	ENST00000332958.2	37	c.1322C>T	CCDS5113.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902858	0.33628	.	.	ENSG00000185002	ENST00000332958	T	0.55760	0.5	5.88	4.1	0.47936	.	0.509492	0.22679	N	0.056973	T	0.21022	0.0506	L	0.43152	1.355	0.29317	N	0.867592	B	0.06786	0.001	B	0.06405	0.002	T	0.13229	-1.0517	10	0.46703	T	0.11	-8.4004	4.9001	0.13769	0.2201:0.433:0.2775:0.0694	.	441	Q8HWS3	RFX6_HUMAN	I	441	ENSP00000332208:T441I	ENSP00000332208:T441I	T	+	2	0	RFX6	117348305	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.626000	0.46460	0.798000	0.33994	0.655000	0.94253	ACT		PASS	0.428	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		47	89	47	89	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123600211	123600211	+	Silent	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:123600211A>T	ENST00000398178.3	-	25	1548	c.1527T>A	c.(1525-1527)ccT>ccA	p.P509P	TRDN_ENST00000334268.4_Silent_p.P509P	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	509					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)	p.P509P(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GTGGAGGTTTAGGCTTGACTT	0.259																																						uc003pzj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1525-1527)CCT>CCA		triadin							186.0	170.0	175.0					6																	123600211		1818	4073	5891	SO:0001819	synonymous_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123600211A>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1527T>A	6.37:g.123600211A>T						TRDN_uc010kem.1_Silent_p.P10P	p.P509P	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	25	1549	-			509			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Silent	SNP	ENST00000398178.3	37	c.1527T>A	CCDS55053.1																																																																																				PASS	0.259	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				39	34	39	34	---	---	---	---
AKAP7	9465	broad.mit.edu	37	6	131481208	131481208	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:131481208A>T	ENST00000431975.2	+	3	259	c.161A>T	c.(160-162)gAa>gTa	p.E54V	AKAP7_ENST00000366358.2_3'UTR|AKAP7_ENST00000541650.1_Missense_Mutation_p.E53V|AKAP7_ENST00000368123.4_Missense_Mutation_p.E32V	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	54						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)	p.E32V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GTCACTGATGAACCTCAAATA	0.294																																						uc003qck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(160-162)GAA>GTA		A-kinase anchor protein 7 isoform gamma							50.0	49.0	49.0					6																	131481208		2203	4296	6499	SO:0001583	missense	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131481208A>T	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.161A>T	6.37:g.131481208A>T	ENSP00000405252:p.Glu54Val					AKAP7_uc011ebz.1_Missense_Mutation_p.E32V	p.E54V	NM_016377	NP_057461	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	3	194	+	Breast(56;0.152)		Error:Variant_position_missing_in_O43687_after_alignment					B4DUC3|Q9HCZ8	Missense_Mutation	SNP	ENST00000431975.2	37	c.161A>T	CCDS5142.2	.	.	.	.	.	.	.	.	.	.	A	3.330	-0.136836	0.06711	.	.	ENSG00000118507	ENST00000431975;ENST00000541650;ENST00000368123	T;T;T	0.30981	1.52;1.51;1.54	5.18	-3.59	0.04583	Protein kinase A anchor protein, nuclear localisation signal domain (1);	0.764676	0.12409	N	0.471438	T	0.02012	0.0063	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42224	-0.9464	10	0.27082	T	0.32	-12.2103	0.3759	0.00387	0.2864:0.2656:0.1366:0.3114	.	54	Q9P0M2	AKA7G_HUMAN	V	54;53;32	ENSP00000405252:E54V;ENSP00000441048:E53V;ENSP00000357105:E32V	ENSP00000357105:E32V	E	+	2	0	AKAP7	131522901	0.003000	0.15002	0.079000	0.20413	0.216000	0.24613	-0.161000	0.10026	-0.180000	0.10637	-0.542000	0.04241	GAA		PASS	0.294	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		20	47	20	47	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144898392	144898392	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:144898392A>G	ENST00000367545.3	+	50	7447	c.7447A>G	c.(7447-7449)Atc>Gtc	p.I2483V		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2483					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.I2483V(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCAGGATAGTATCTTGGCCAG	0.493																																						uc003qkt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(7447-7449)ATC>GTC		utrophin							116.0	92.0	101.0					6																	144898392		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144898392A>G	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7447A>G	6.37:g.144898392A>G	ENSP00000356515:p.Ile2483Val						p.I2483V	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	50	7539	+		Ovarian(120;0.218)	2483			Spectrin 17.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.7447A>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	A	11.02	1.516070	0.27123	.	.	ENSG00000152818	ENST00000367545	T	0.58210	0.35	6.03	-6.39	0.01951	.	1.475580	0.04631	N	0.403715	T	0.10165	0.0249	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09207	-1.0685	10	0.25106	T	0.35	.	8.523	0.33287	0.1596:0.1677:0.5889:0.0837	.	2483	P46939	UTRO_HUMAN	V	2483	ENSP00000356515:I2483V	ENSP00000356515:I2483V	I	+	1	0	UTRN	144940085	0.000000	0.05858	0.000000	0.03702	0.950000	0.60333	0.249000	0.18216	-1.370000	0.02144	-0.256000	0.11100	ATC		PASS	0.493	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			20	26	20	26	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146275940	146275940	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:146275940C>A	ENST00000367505.2	-	2	783	c.519G>T	c.(517-519)aaG>aaT	p.K173N	SHPRH_ENST00000438092.2_Missense_Mutation_p.K173N|SHPRH_ENST00000367503.3_Missense_Mutation_p.K173N|SHPRH_ENST00000275233.7_Missense_Mutation_p.K173N			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	173					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.K173N(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CCAGAATACCCTTGTCACAAA	0.373																																						uc003qlf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(517-519)AAG>AAT		SNF2 histone linker PHD RING helicase isoform a							117.0	107.0	110.0					6																	146275940		1829	4094	5923	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146275940C>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.519G>T	6.37:g.146275940C>A	ENSP00000356475:p.Lys173Asn					SHPRH_uc003qld.2_Missense_Mutation_p.K173N|SHPRH_uc003qle.2_Missense_Mutation_p.K173N|SHPRH_uc003qlg.1_Translation_Start_Site|SHPRH_uc003qlj.1_Missense_Mutation_p.K62N|SHPRH_uc003qlk.1_Missense_Mutation_p.K173N	p.K173N	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	918	-		Ovarian(120;0.0365)	173					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.519G>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	8.648	0.897578	0.17686	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233;ENST00000444767	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.66	-3.16	0.05217	.	0.305496	0.31145	N	0.008177	T	0.47248	0.1435	L	0.51422	1.61	0.09310	N	1	B;P;P;P	0.51933	0.002;0.514;0.646;0.949	B;B;B;P	0.51415	0.004;0.113;0.225;0.669	T	0.55717	-0.8097	10	0.44086	T	0.13	-9.2393	9.0691	0.36482	0.0:0.3955:0.0968:0.5077	.	62;173;173;62	Q149N8-2;Q149N8;Q149N8-4;F8WEL0	.;SHPRH_HUMAN;.;.	N	173;173;173;173;62	ENSP00000356475:K173N;ENSP00000356473:K173N;ENSP00000412797:K173N;ENSP00000275233:K173N	ENSP00000275233:K173N	K	-	3	2	SHPRH	146317633	0.000000	0.05858	0.124000	0.21820	0.209000	0.24338	-0.396000	0.07278	-0.349000	0.08274	-0.140000	0.14226	AAG		PASS	0.373	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		38	61	38	61	---	---	---	---
TFB1M	51106	broad.mit.edu	37	6	155606408	155606408	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:155606408G>A	ENST00000367166.4	-	5	605	c.550C>T	c.(550-552)Ctt>Ttt	p.L184F		NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)	p.L184F(1)		lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		TTGGCTGCAAGTCTCTAGAGA	0.408																																						uc003qqj.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(550-552)CTT>TTT		transcription factor B1, mitochondrial							102.0	88.0	93.0					6																	155606408		2203	4300	6503	SO:0001583	missense	51106				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity	g.chr6:155606408G>A	AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.550C>T	6.37:g.155606408G>A	ENSP00000356134:p.Leu184Phe					TFB1M_uc003qqk.2_Intron	p.L184F	NM_016020	NP_057104	Q8WVM0	TFB1M_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)	5	614	-		Ovarian(120;0.196)	184					Q05DR0|Q9Y384	Missense_Mutation	SNP	ENST00000367166.4	37	c.550C>T	CCDS5248.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160121	0.38119	.	.	ENSG00000029639	ENST00000367166	T	0.37235	1.21	5.9	4.12	0.48240	Ribosomal RNA adenine methylase transferase, N-terminal (1);	0.140017	0.48767	D	0.000169	T	0.36744	0.0978	M	0.78285	2.405	0.80722	D	1	P	0.50156	0.932	P	0.49047	0.599	T	0.43589	-0.9382	10	0.72032	D	0.01	-29.2192	12.2007	0.54323	0.137:0.0:0.863:0.0	.	184	Q8WVM0	TFB1M_HUMAN	F	184	ENSP00000356134:L184F	ENSP00000356134:L184F	L	-	1	0	TFB1M	155648100	1.000000	0.71417	0.962000	0.40283	0.114000	0.19823	4.037000	0.57311	1.503000	0.48686	0.563000	0.77884	CTT		PASS	0.408	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			5	26	5	26	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161022046	161022046	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:161022046C>T	ENST00000316300.5	-	19	3074	c.3030G>A	c.(3028-3030)gaG>gaA	p.E1010E	LPA_ENST00000447678.1_Silent_p.E1010E			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3518	Kringle 9. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.E1010E(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGTTGCAGTACTCCCACCTGA	0.488																																						uc003qtl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(3028-3030)GAG>GAA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						76.0	81.0	79.0					6																	161022046		2201	4298	6499	SO:0001819	synonymous_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161022046C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3030G>A	6.37:g.161022046C>T							p.E1010E	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	20	3150	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3518			Kringle 31.		Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	c.3030G>A	CCDS43523.1																																																																																				PASS	0.488	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		37	58	37	58	---	---	---	---
LPA	4018	broad.mit.edu	37	6	161071443	161071443	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr6:161071443C>A	ENST00000316300.5	-	2	180	c.136G>T	c.(136-138)Gga>Tga	p.G46*	LPA_ENST00000447678.1_Nonsense_Mutation_p.G46*			P08519	APOA_HUMAN	lipoprotein, Lp(a)	2554	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.G46*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAGGTCCTTCCTGTGACAGTG	0.448																																						uc003qtl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(136-138)GGA>TGA		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						245.0	254.0	251.0					6																	161071443		2203	4300	6503	SO:0001587	stop_gained	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161071443C>A	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.136G>T	6.37:g.161071443C>A	ENSP00000321334:p.Gly46*						p.G46*	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	3	256	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	2554			Kringle 23.		Q5VTD7|Q9UD88	Nonsense_Mutation	SNP	ENST00000316300.5	37	c.136G>T	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	12.87	2.066738	0.36470	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	.	.	.	2.57	2.57	0.30868	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.71	0.34378	0.0:1.0:0.0:0.0	.	.	.	.	X	46	.	ENSP00000321334:G46X	G	-	1	0	LPA	160991433	0.924000	0.31332	0.087000	0.20705	0.062000	0.15995	3.612000	0.54142	1.433000	0.47394	0.505000	0.49811	GGA		PASS	0.448	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		86	133	86	133	---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4188935	4188935	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:4188935G>T	ENST00000404826.2	+	30	4604	c.4465G>T	c.(4465-4467)Gaa>Taa	p.E1489*	SDK1_ENST00000389531.3_Nonsense_Mutation_p.E1489*	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1489	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E1489*(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCCCCAGGCAGAAGTGACCGC	0.672																																						uc003smx.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(4465-4467)GAA>TAA		sidekick 1 precursor							24.0	27.0	26.0					7																	4188935		2203	4300	6503	SO:0001587	stop_gained	221935				cell adhesion	integral to membrane		g.chr7:4188935G>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4465G>T	7.37:g.4188935G>T	ENSP00000385899:p.Glu1489*					SDK1_uc010kso.2_Nonsense_Mutation_p.E765*|SDK1_uc003smy.2_5'UTR	p.E1489*	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	30	4604	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1489			Fibronectin type-III 9.		Q8TEN9|Q8TEP5|Q96N44	Nonsense_Mutation	SNP	ENST00000404826.2	37	c.4465G>T	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	45	11.643396	0.99586	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	.	.	.	5.06	4.17	0.49024	.	0.343507	0.26761	N	0.022621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	12.8714	0.57966	0.0789:0.0:0.9211:0.0	.	.	.	.	X	1489	.	ENSP00000374182:E1489X	E	+	1	0	SDK1	4155461	0.999000	0.42202	0.742000	0.31022	0.747000	0.42532	3.368000	0.52357	2.353000	0.79882	0.563000	0.77884	GAA		PASS	0.672	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		10	32	10	32	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13950876	13950876	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:13950876T>A	ENST00000430479.1	-	10	1526	c.859A>T	c.(859-861)Agc>Tgc	p.S287C	ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Missense_Mutation_p.S184C|ETV1_ENST00000405192.2_Intron|ETV1_ENST00000343495.5_Missense_Mutation_p.S269C|ETV1_ENST00000420159.2_Missense_Mutation_p.S229C|ETV1_ENST00000405358.4_Missense_Mutation_p.S301C|ETV1_ENST00000405218.2_Missense_Mutation_p.S287C|ETV1_ENST00000403527.1_Missense_Mutation_p.S247C|ETV1_ENST00000403685.1_Missense_Mutation_p.S269C|ETV1_ENST00000242066.5_Missense_Mutation_p.S269C	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	287					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S247C(1)|p.S287C(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TCTGTTCTGCTGGGATGAGCC	0.398			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	2	Substitution - Missense(2)		lung(2)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(859-861)AGC>TGC		ets variant gene 1 isoform a							80.0	79.0	79.0					7																	13950876		1900	4114	6014	SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13950876T>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.859A>T	7.37:g.13950876T>A	ENSP00000405327:p.Ser287Cys					ETV1_uc011jxn.1_Missense_Mutation_p.S247C|ETV1_uc011jxo.1_Missense_Mutation_p.S184C|ETV1_uc011jxp.1_Missense_Mutation_p.S229C|ETV1_uc003ssw.3_Intron|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.S269C|ETV1_uc011jxs.1_Missense_Mutation_p.S269C|ETV1_uc010ktv.2_Missense_Mutation_p.S156C	p.S287C	NM_004956	NP_004947	P50549	ETV1_HUMAN			10	1598	-			287	Missing (in Ref. 5; AAC62435).				A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.859A>T	CCDS55088.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.517243	0.64634	.	.	ENSG00000006468	ENST00000430479;ENST00000242066;ENST00000343495;ENST00000420159;ENST00000399357;ENST00000405358;ENST00000403527;ENST00000405218;ENST00000403685;ENST00000438956	T;T;T;T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	5.11	2.72	0.32119	.	0.472228	0.17463	U	0.173365	T	0.20618	0.0496	N	0.14661	0.345	0.30668	N	0.753708	P;P;B;P;P;P	0.45474	0.465;0.822;0.284;0.521;0.642;0.859	P;P;B;P;P;P	0.49140	0.525;0.52;0.22;0.547;0.552;0.601	T	0.08207	-1.0733	10	0.41790	T	0.15	.	9.8075	0.40801	0.0:0.1429:0.0:0.8571	.	269;301;229;184;247;229	P50549-2;B5MCT2;F5GXR2;B7Z9P2;E9PHB1;B7Z618	.;.;.;.;.;.	C	287;269;269;229;184;301;247;287;269;229	ENSP00000405327:S287C;ENSP00000242066:S269C;ENSP00000340853:S269C;ENSP00000411626:S229C;ENSP00000382293:S184C;ENSP00000384085:S301C;ENSP00000384138:S247C;ENSP00000385551:S287C;ENSP00000385686:S269C;ENSP00000393078:S229C	ENSP00000242066:S269C	S	-	1	0	ETV1	13917401	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	4.986000	0.63851	0.472000	0.27344	0.482000	0.46254	AGC		PASS	0.398	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		12	29	12	29	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13971314	13971314	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:13971314C>T	ENST00000430479.1	-	9	1282	c.615G>A	c.(613-615)agG>agA	p.R205R	ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000399357.3_Silent_p.R102R|ETV1_ENST00000405192.2_Silent_p.R205R|ETV1_ENST00000343495.5_Silent_p.R187R|ETV1_ENST00000420159.2_Silent_p.R147R|ETV1_ENST00000405358.4_Silent_p.R219R|ETV1_ENST00000405218.2_Silent_p.R205R|ETV1_ENST00000403527.1_Silent_p.R165R|ETV1_ENST00000403685.1_Silent_p.R187R|ETV1_ENST00000242066.5_Silent_p.R187R	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	205					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R205R(1)|p.R165R(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						GACGTCCTTCCCTTGGCATCG	0.502			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	2	Substitution - coding silent(2)		lung(2)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(613-615)AGG>AGA		ets variant gene 1 isoform a							124.0	120.0	122.0					7																	13971314		2024	4177	6201	SO:0001819	synonymous_variant	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13971314C>T		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.615G>A	7.37:g.13971314C>T						ETV1_uc011jxn.1_Silent_p.R165R|ETV1_uc011jxo.1_Silent_p.R102R|ETV1_uc011jxp.1_Silent_p.R147R|ETV1_uc003ssw.3_Silent_p.R205R|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Silent_p.R187R|ETV1_uc011jxs.1_Silent_p.R187R|ETV1_uc010ktv.2_Silent_p.R74R	p.R205R	NM_004956	NP_004947	P50549	ETV1_HUMAN			9	1354	-			205					A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Silent	SNP	ENST00000430479.1	37	c.615G>A	CCDS55088.1																																																																																				PASS	0.502	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		31	42	31	42	---	---	---	---
IGF2BP3	10643	broad.mit.edu	37	7	23391040	23391040	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:23391040G>T	ENST00000258729.3	-	6	923	c.567C>A	c.(565-567)tcC>tcA	p.S189S	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	189					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.S189S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GTTTCTGCTTGGATACGGATC	0.582																																						uc003swg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(565-567)TCC>TCA		insulin-like growth factor 2 mRNA binding							80.0	74.0	76.0					7																	23391040		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23391040G>T	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.567C>A	7.37:g.23391040G>T							p.S189S	NM_006547	NP_006538	O00425	IF2B3_HUMAN			6	833	-			189					A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.567C>A	CCDS5382.1																																																																																				PASS	0.582	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		31	66	31	66	---	---	---	---
CREB5	9586	broad.mit.edu	37	7	28527826	28527826	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:28527826G>C	ENST00000357727.2	+	2	427	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	CREB5_ENST00000396300.2_Missense_Mutation_p.E6Q|CREB5_ENST00000409603.1_5'Flank|CREB5_ENST00000396299.2_Intron	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	13					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E13Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						TTTGGAGCAGGAGAGGCCGTT	0.512																																						uc003szq.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(37-39)GAG>CAG		cAMP responsive element binding protein 5							111.0	113.0	112.0					7																	28527826		2203	4300	6503	SO:0001583	missense	9586				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:28527826G>C	L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.37G>C	7.37:g.28527826G>C	ENSP00000350359:p.Glu13Gln					CREB5_uc003szo.2_Intron|CREB5_uc003szr.2_Missense_Mutation_p.E6Q	p.E13Q	NM_182898	NP_878901	Q02930	CREB5_HUMAN			2	427	+			13					A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	ENST00000357727.2	37	c.37G>C	CCDS5417.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219996	0.79464	.	.	ENSG00000146592	ENST00000424599;ENST00000357727;ENST00000396300	T;T;T	0.36878	1.23;1.23;1.23	6.08	6.08	0.98989	.	0.044188	0.85682	D	0.000000	T	0.43567	0.1253	L	0.56769	1.78	0.80722	D	1	B	0.29531	0.247	B	0.32805	0.153	T	0.31861	-0.9928	10	0.72032	D	0.01	-19.0085	20.6634	0.99662	0.0:0.0:1.0:0.0	.	13	Q02930	CREB5_HUMAN	Q	6;13;6	ENSP00000394088:E6Q;ENSP00000350359:E13Q;ENSP00000379594:E6Q	ENSP00000350359:E13Q	E	+	1	0	CREB5	28494351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.411000	0.97342	2.894000	0.99253	0.655000	0.94253	GAG		PASS	0.512	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214204.4	NM_004904		34	78	34	78	---	---	---	---
NOD1	10392	broad.mit.edu	37	7	30469038	30469038	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:30469038G>T	ENST00000222823.4	-	13	3266	c.2741C>A	c.(2740-2742)gCc>gAc	p.A914D		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	914					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)	p.A914D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGCCAGCTGGGCAGTCCCCTT	0.433																																						uc003tav.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2740-2742)GCC>GAC		nucleotide-binding oligomerization domain							259.0	254.0	255.0					7																	30469038		2203	4300	6503	SO:0001583	missense	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30469038G>T	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.2741C>A	7.37:g.30469038G>T	ENSP00000222823:p.Ala914Asp						p.A914D	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			13	3264	-			914			LRR 8.		B4DTU3|Q549U4|Q8IWF5	Missense_Mutation	SNP	ENST00000222823.4	37	c.2741C>A	CCDS5427.1	.	.	.	.	.	.	.	.	.	.	G	9.926	1.213559	0.22289	.	.	ENSG00000106100	ENST00000222823	T	0.53640	0.61	6.17	6.17	0.99709	.	0.508887	0.21804	N	0.068873	T	0.31544	0.0800	N	0.12746	0.255	0.46609	D	0.99912	B	0.06786	0.001	B	0.04013	0.001	T	0.11275	-1.0594	10	0.19147	T	0.46	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	914	Q9Y239	NOD1_HUMAN	D	914	ENSP00000222823:A914D	ENSP00000222823:A914D	A	-	2	0	NOD1	30435563	0.440000	0.25618	0.956000	0.39512	0.174000	0.22865	3.260000	0.51523	2.941000	0.99782	0.655000	0.94253	GCC		PASS	0.433	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			87	249	87	249	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31124405	31124405	+	Silent	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:31124405C>G	ENST00000304166.4	+	8	781	c.492C>G	c.(490-492)tcC>tcG	p.S164S	ADCYAP1R1_ENST00000409363.1_Silent_p.S143S|ADCYAP1R1_ENST00000396211.2_Silent_p.S164S|ADCYAP1R1_ENST00000409489.1_Silent_p.S164S	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	164					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.S164S(2)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACAGCACATCCCTCGTCACCC	0.562																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(1)	1						c.(490-492)TCC>TCG		adenylate cyclase activating polypeptide 1							302.0	224.0	250.0					7																	31124405		2203	4300	6503	SO:0001819	synonymous_variant	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124405C>G		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.492C>G	7.37:g.31124405C>G						ADCYAP1R1_uc003tcb.1_Silent_p.S143S|ADCYAP1R1_uc003tcc.1_Silent_p.S164S|ADCYAP1R1_uc003tcd.1_Silent_p.S164S|ADCYAP1R1_uc003tce.1_Silent_p.S164S|ADCYAP1R1_uc003tcf.1_5'Flank	p.S164S	NM_001118	NP_001109	P41586	PACR_HUMAN			8	715	+			164			Helical; Name=1; (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Silent	SNP	ENST00000304166.4	37	c.492C>G	CCDS5433.1																																																																																				PASS	0.562	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		43	85	43	85	---	---	---	---
TRGV8	6982	broad.mit.edu	37	7	38370157	38370157	+	RNA	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:38370157A>C	ENST00000390343.2	-	0	254				RP11-121A8.1_ENST00000609522.1_lincRNA					T cell receptor gamma variable 8																		TGTAGACGGCATTTTCTACAG	0.502																																						uc010kxj.1																			0											c.(139-141)AAT>AAG		SubName: Full=Putative uncharacterized protein ENSP00000374866;							90.0	87.0	88.0					7																	38370157		1928	4121	6049			0							g.chr7:38370157A>C	M13434		7p14	2012-02-07			ENSG00000211696	ENSG00000211696		"""T cell receptors / TRG locus"""	12294	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V8"""			TCRGV8			Standard	NG_001336		Approved	V1S8			OTTHUMG00000155098		7.37:g.38370157A>C						uc010kxk.1_RNA	p.N47K							2	277	-									Missense_Mutation	SNP	ENST00000390343.2	37	c.141T>G																																																																																					PASS	0.502	TRGV8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338399.4	NG_001336		27	84	27	84	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43400557	43400557	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:43400557C>A	ENST00000395891.2	+	6	1138	c.533C>A	c.(532-534)aCg>aAg	p.T178K	HECW1_ENST00000453890.1_Missense_Mutation_p.T178K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	178					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T178K(1)|p.T157K(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCAGTGTCACGGTCAAAAAC	0.463																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(532-534)ACG>AAG		NEDD4-like ubiquitin-protein ligase 1							101.0	106.0	104.0					7																	43400557		1965	4140	6105	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43400557C>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.533C>A	7.37:g.43400557C>A	ENSP00000379228:p.Thr178Lys					HECW1_uc011kbi.1_Missense_Mutation_p.T178K|HECW1_uc003tie.1_Missense_Mutation_p.T210K	p.T178K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			6	1138	+			178					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.533C>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923325	0.92319	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.35789	1.35;1.29	5.44	5.44	0.79542	.	0.361370	0.20371	U	0.093648	T	0.60856	0.2301	M	0.73962	2.25	0.80722	D	1	D;D;D	0.76494	0.989;0.999;0.977	P;D;P	0.64877	0.628;0.93;0.593	T	0.64162	-0.6472	10	0.87932	D	0	.	18.0321	0.89288	0.0:1.0:0.0:0.0	.	178;210;178	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	K	178;178;177	ENSP00000379228:T178K;ENSP00000407774:T178K	ENSP00000265522:T177K	T	+	2	0	HECW1	43367082	1.000000	0.71417	0.954000	0.39281	0.962000	0.63368	6.977000	0.76141	2.551000	0.86045	0.655000	0.94253	ACG		PASS	0.463	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		34	77	34	77	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44576449	44576449	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:44576449C>A	ENST00000289547.4	-	3	1728	c.1673G>T	c.(1672-1674)gGg>gTg	p.G558V	NPC1L1_ENST00000423141.1_Missense_Mutation_p.G558V|NPC1L1_ENST00000381160.3_Missense_Mutation_p.G558V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.G558V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	558					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)	p.G558V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACCTTTGTACCCCCCAATGGC	0.607																																						uc003tlb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1672-1674)GGG>GTG		Niemann-Pick C1-like protein 1 isoform 1	Ezetimibe(DB00973)						49.0	49.0	49.0					7																	44576449		2203	4300	6503	SO:0001583	missense	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44576449C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1673G>T	7.37:g.44576449C>A	ENSP00000289547:p.Gly558Val					NPC1L1_uc003tlc.2_Missense_Mutation_p.G558V|NPC1L1_uc011kbw.1_Missense_Mutation_p.G558V|NPC1L1_uc003tld.2_Missense_Mutation_p.G558V	p.G558V	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN			3	1729	-			558			Extracellular (Potential).		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	ENST00000289547.4	37	c.1673G>T	CCDS5491.1	.	.	.	.	.	.	.	.	.	.	c	21.7	4.188467	0.78789	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276;ENST00000423141	D;D;D;D	0.96716	-4.02;-4.02;-4.1;-3.89	4.94	4.94	0.65067	.	0.114590	0.64402	D	0.000018	D	0.98548	0.9515	M	0.93638	3.44	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.998;0.999	D	0.99723	1.1010	10	0.87932	D	0	-24.9771	15.6294	0.76893	0.0:1.0:0.0:0.0	.	558;558;558;558	B7ZLE6;Q9UHC9-3;Q17RV5;D3DVK9	.;.;.;.	V	558	ENSP00000289547:G558V;ENSP00000370552:G558V;ENSP00000438033:G558V;ENSP00000404670:G558V	ENSP00000289547:G558V	G	-	2	0	NPC1L1	44542974	1.000000	0.71417	0.993000	0.49108	0.808000	0.45660	7.065000	0.76727	2.285000	0.76669	0.457000	0.33378	GGG		PASS	0.607	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		27	77	27	77	---	---	---	---
CCT6A	908	broad.mit.edu	37	7	56127249	56127249	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:56127249T>A	ENST00000275603.4	+	9	1200	c.981T>A	c.(979-981)gcT>gcA	p.A327A	CCT6A_ENST00000540286.1_Silent_p.A296A|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000335503.3_Silent_p.A282A	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	327					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.A327A(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGACTCTTGCTTGTGGTGGGG	0.388																																						uc003trl.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(979-981)GCT>GCA		chaperonin containing TCP1, subunit 6A isoform							106.0	93.0	97.0					7																	56127249		2203	4300	6503	SO:0001819	synonymous_variant	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56127249T>A	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.981T>A	7.37:g.56127249T>A						PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Silent_p.A282A|CCT6A_uc011kcu.1_Silent_p.A296A|SNORA15_uc003trn.1_5'Flank	p.A327A	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		9	1145	+	Breast(14;0.214)		327					A6NCD2|Q3KP28|Q75LP4|Q96S46	Silent	SNP	ENST00000275603.4	37	c.981T>A	CCDS5523.1																																																																																				PASS	0.388	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		35	67	35	67	---	---	---	---
CCL24	6369	broad.mit.edu	37	7	75442680	75442680	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:75442680G>A	ENST00000416943.1	-	3	228	c.135C>T	c.(133-135)aaC>aaT	p.N45N	CCL24_ENST00000222902.2_Silent_p.N45N	NM_002991.2	NP_002982.2	O00175	CCL24_HUMAN	chemokine (C-C motif) ligand 24	45					cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of inflammatory response (GO:0050729)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)	p.N45N(1)		endometrium(1)|lung(2)	3						TGACCACTCGGTTCTCAGGAA	0.557																																						uc011kga.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)AAC>AAT		small inducible cytokine A24 precursor							69.0	67.0	68.0					7																	75442680		2203	4300	6503	SO:0001819	synonymous_variant	6369				cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity	g.chr7:75442680G>A	U85768	CCDS34670.1	7q11.23	2013-02-25	2002-08-22	2002-08-23	ENSG00000106178	ENSG00000106178		"""Chemokine ligands"", ""Endogenous ligands"""	10623	protein-coding gene	gene with protein product	"""CK-beta-6"", ""myeloid progenitor inhibitory factor 2"", ""eotaxin-2"""	602495	"""small inducible cytokine subfamily A (Cys-Cys), member 24"""	SCYA24		9104803, 9598329	Standard	NM_002991		Approved	Ckb-6, MPIF-2, eotaxin-2, MPIF2	uc011kga.2	O00175	OTTHUMG00000156635	ENST00000416943.1:c.135C>T	7.37:g.75442680G>A							p.N45N	NM_002991	NP_002982	O00175	CCL24_HUMAN			2	135	-			45					B2R5K2	Silent	SNP	ENST00000416943.1	37	c.135C>T	CCDS34670.1																																																																																				PASS	0.557	CCL24-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344886.1	NM_002991		24	77	24	77	---	---	---	---
STYXL1	51657	broad.mit.edu	37	7	75651307	75651307	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:75651307T>C	ENST00000248600.1	-	4	511	c.169A>G	c.(169-171)Aat>Gat	p.N57D	STYXL1_ENST00000451157.1_Missense_Mutation_p.N57D|STYXL1_ENST00000431581.1_Missense_Mutation_p.N57D|STYXL1_ENST00000360591.3_Missense_Mutation_p.N57D|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000359697.3_Missense_Mutation_p.N57D	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	57	Rhodanese.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.N57D(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TATTCATTATTTTTCTTAAAA	0.468																																						uc003uej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)AAT>GAT		map kinase phosphatase-like protein MK-STYX							59.0	58.0	58.0					7																	75651307		2203	4300	6503	SO:0001583	missense	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75651307T>C	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.169A>G	7.37:g.75651307T>C	ENSP00000248600:p.Asn57Asp					STYXL1_uc011kgf.1_5'UTR|STYXL1_uc011kgg.1_5'UTR|STYXL1_uc003ueh.2_5'UTR|STYXL1_uc003uek.3_Intron|STYXL1_uc003uel.2_Missense_Mutation_p.N57D|STYXL1_uc003uem.2_Missense_Mutation_p.N57D|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Missense_Mutation_p.N57D|STYXL1_uc003uen.1_Missense_Mutation_p.N57D	p.N57D	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN			4	342	-			57			Rhodanese.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	ENST00000248600.1	37	c.169A>G	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	T	0.080	-1.185119	0.01620	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000404050;ENST00000360591;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95	5.24	2.42	0.29668	Rhodanese-like (4);	1.656490	0.02974	N	0.144661	T	0.23846	0.0577	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.09377	0.004;0.002;0.003	T	0.20240	-1.0281	10	0.12103	T	0.63	0.2606	7.0208	0.24912	0.0:0.6224:0.0:0.3776	.	57;57;57	C9J4H0;Q9Y6J8-2;Q9Y6J8	.;.;STYL1_HUMAN	D	57;57;57;57;57;12;57	ENSP00000248600:N57D;ENSP00000352726:N57D;ENSP00000353798:N57D;ENSP00000392221:N57D;ENSP00000406073:N12D;ENSP00000411812:N57D	ENSP00000248600:N57D	N	-	1	0	STYXL1	75489243	0.000000	0.05858	0.008000	0.14137	0.001000	0.01503	0.409000	0.21082	0.290000	0.22444	-0.464000	0.05259	AAT		PASS	0.468	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		39	56	39	56	---	---	---	---
GNAT3	346562	broad.mit.edu	37	7	80141170	80141170	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:80141170C>T	ENST00000398291.3	-	1	166	c.73G>A	c.(73-75)Gag>Aag	p.E25K	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	25					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)	p.E25K(2)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TCAGCATCCTCCTGAAGCTTT	0.388																																						uc011kgu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(73-75)GAG>AAG		guanine nucleotide binding protein, alpha							94.0	96.0	95.0					7																	80141170		2065	4200	6265	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80141170C>T		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.73G>A	7.37:g.80141170C>T	ENSP00000381339:p.Glu25Lys					CD36_uc003uhc.2_Intron	p.E25K	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN			1	73	-			25					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.73G>A	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095776	0.94197	.	.	ENSG00000214415	ENST00000398291	D	0.89270	-2.49	5.17	5.17	0.71159	.	0.000000	0.85682	U	0.000000	D	0.89612	0.6765	L	0.41356	1.27	0.80722	D	1	P	0.47762	0.9	P	0.53266	0.722	D	0.88237	0.2907	9	.	.	.	.	17.7867	0.88540	0.0:1.0:0.0:0.0	.	25	A8MTJ3	GNAT3_HUMAN	K	25	ENSP00000381339:E25K	.	E	-	1	0	GNAT3	79979106	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.538000	0.45710	2.570000	0.86706	0.655000	0.94253	GAG		PASS	0.388	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		9	27	9	27	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415633	86415633	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:86415633C>T	ENST00000361669.2	+	3	1624	c.525C>T	c.(523-525)agC>agT	p.S175S	AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000439827.1_Silent_p.S175S|GRM3_ENST00000394720.2_Silent_p.S173S|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.S47S|AC005009.2_ENST00000452471.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	175					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.S175S(1)|p.S175R(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					CATCCACCAGCGCCAAACTCA	0.552																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(523-525)AGC>AGT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						142.0	143.0	142.0					7																	86415633		2203	4300	6503	SO:0001819	synonymous_variant	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415633C>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.525C>T	7.37:g.86415633C>T						GRM3_uc010lef.2_Silent_p.S173S|GRM3_uc010leg.2_Silent_p.S47S|GRM3_uc010leh.2_Intron	p.S175S	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1624	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		175			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	ENST00000361669.2	37	c.525C>T	CCDS5600.1																																																																																				PASS	0.552	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			76	149	76	149	---	---	---	---
DYNC1I1	1780	broad.mit.edu	37	7	95499272	95499272	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:95499272A>G	ENST00000324972.6	+	6	696	c.503A>G	c.(502-504)aAg>aGg	p.K168R	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.K151R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.K131R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.K148R|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.K151R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.K131R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	168					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)	p.K168R(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCCTACTCAAAGGAGACCCAG	0.438																																						uc003uoc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)	4						c.(502-504)AAG>AGG		dynein, cytoplasmic 1, intermediate chain 1							116.0	99.0	105.0					7																	95499272		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95499272A>G	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.503A>G	7.37:g.95499272A>G	ENSP00000320130:p.Lys168Arg					DYNC1I1_uc003uod.3_Missense_Mutation_p.K151R|DYNC1I1_uc003uob.2_Missense_Mutation_p.K131R|DYNC1I1_uc003uoe.3_Missense_Mutation_p.K148R|DYNC1I1_uc010lfl.2_Missense_Mutation_p.K157R	p.K168R	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		6	780	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		168					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.503A>G	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.794303	0.90453	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	T;T;T;T;T;T	0.79033	-0.86;-0.83;-1.23;-0.95;-0.99;-0.86	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.88179	0.6367	M	0.83603	2.65	0.54753	D	0.999986	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998	D	0.88322	0.2963	10	0.41790	T	0.15	0.6514	14.6109	0.68514	1.0:0.0:0.0:0.0	.	151;148;151;168;131	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	R	151;168;131;148;131;151	ENSP00000392337:K151R;ENSP00000320130:K168R;ENSP00000438377:K131R;ENSP00000398118:K148R;ENSP00000352348:K131R;ENSP00000412444:K151R	ENSP00000320130:K168R	K	+	2	0	DYNC1I1	95337208	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.654000	0.83653	2.160000	0.67779	0.528000	0.53228	AAG		PASS	0.438	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		50	77	50	77	---	---	---	---
NYAP1	222950	broad.mit.edu	37	7	100084641	100084641	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:100084641G>T	ENST00000300179.2	+	3	425	c.266G>T	c.(265-267)gGc>gTc	p.G89V	NYAP1_ENST00000454988.1_Missense_Mutation_p.G32V|NYAP1_ENST00000423930.1_Missense_Mutation_p.G89V	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	89	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.G89V(1)									CACTCGGTGGGCAGCATGGAC	0.711																																						uc003uvd.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(265-267)GGC>GTC		hypothetical protein FLJ37538							13.0	17.0	16.0					7																	100084641		2156	4230	6386	SO:0001583	missense	222950							g.chr7:100084641G>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.266G>T	7.37:g.100084641G>T	ENSP00000300179:p.Gly89Val					C7orf51_uc003uve.1_5'Flank	p.G89V	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			3	425	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		89					Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.266G>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463543	0.84425	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.44881	0.91;0.91;0.91	5.55	4.62	0.57501	.	0.000000	0.52532	D	0.000080	T	0.58278	0.2111	L	0.58810	1.83	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.60281	-0.7294	10	0.72032	D	0.01	-19.2397	12.8951	0.58095	0.0:0.0:0.8367:0.1633	.	89	Q6ZVC0	CG051_HUMAN	V	89;89;32	ENSP00000300179:G89V;ENSP00000411861:G89V;ENSP00000394424:G32V	ENSP00000300179:G89V	G	+	2	0	C7orf51	99922577	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.525000	0.67110	2.606000	0.88127	0.462000	0.41574	GGC		PASS	0.711	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564		9	20	9	20	---	---	---	---
MOSPD3	64598	broad.mit.edu	37	7	100211278	100211278	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:100211278C>T	ENST00000393950.2	+	3	742	c.460C>T	c.(460-462)Cca>Tca	p.P154S	MOSPD3_ENST00000379527.2_Missense_Mutation_p.P154S|MOSPD3_ENST00000223054.4_Missense_Mutation_p.P154S|MOSPD3_ENST00000424091.2_Missense_Mutation_p.P144S	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	154					heart development (GO:0007507)	integral component of membrane (GO:0016021)	structural molecule activity (GO:0005198)	p.P154S(1)|p.P154T(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCGCCTCGCCCAGGGCCTCC	0.622																																						uc003uvq.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	ovary(2)	2						c.(460-462)CCA>TCA		motile sperm domain containing 3 isoform a							46.0	46.0	46.0					7																	100211278		2203	4300	6503	SO:0001583	missense	64598					integral to membrane	structural molecule activity	g.chr7:100211278C>T	BC011653	CCDS5701.1, CCDS47662.1	7q22	2009-11-06			ENSG00000106330	ENSG00000106330			25078	protein-coding gene	gene with protein product		609125				15533722	Standard	XM_005250531		Approved	CDS3, NET30	uc003uvs.3	O75425	OTTHUMG00000159599	ENST00000393950.2:c.460C>T	7.37:g.100211278C>T	ENSP00000377522:p.Pro154Ser					MOSPD3_uc003uvr.2_Missense_Mutation_p.P154S|MOSPD3_uc003uvs.2_Missense_Mutation_p.P154S|MOSPD3_uc003uvt.2_Missense_Mutation_p.P144S	p.P154S	NM_001040097	NP_001035186	O75425	MSPD3_HUMAN			4	662	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		154					A4D2D1|A6NG17|C9JE89|D6W5W1|O75423|O75424	Missense_Mutation	SNP	ENST00000393950.2	37	c.460C>T	CCDS5701.1	.	.	.	.	.	.	.	.	.	.	C	4.417	0.077178	0.08485	.	.	ENSG00000106330	ENST00000223054;ENST00000493970;ENST00000379527;ENST00000393950;ENST00000424091;ENST00000393953	.	.	.	4.12	3.23	0.37069	.	0.548559	0.16396	N	0.216239	T	0.39682	0.1087	N	0.22421	0.69	0.38356	D	0.944461	B;B	0.20052	0.041;0.041	B;B	0.21917	0.023;0.037	T	0.20338	-1.0278	9	0.09338	T	0.73	0.0097	11.5482	0.50706	0.1804:0.8196:0.0:0.0	.	144;154	C9JE89;O75425	.;MSPD3_HUMAN	S	154;154;154;154;144;140	.	ENSP00000223054:P154S	P	+	1	0	MOSPD3	100049214	0.736000	0.28164	0.856000	0.33681	0.625000	0.37756	2.246000	0.43142	1.313000	0.45069	0.563000	0.77884	CCA		PASS	0.622	MOSPD3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356395.1	NM_023948		26	64	26	64	---	---	---	---
MUC3A	4584	broad.mit.edu	37	7	100608729	100608729	+	Splice_Site	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:100608729C>A	ENST00000319509.7	+	7	2108	c.2108C>A	c.(2107-2109)gCc>gAc	p.A703D	RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	2368	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)	p.A703D(2)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAACCCCCAGCCATCTGCCGC	0.602																																						uc003uxl.1																			2	Substitution - Missense(2)		lung(2)								c.(1807-1809)GCC>GAC		SubName: Full=Intestinal mucin; Flags: Fragment;							64.0	62.0	62.0					7																	100608729		876	1991	2867	SO:0001630	splice_region_variant	0							g.chr7:100608729C>A	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2108-1C>A	7.37:g.100608729C>A						uc003uxm.1_RNA|uc003uxn.1_RNA|uc010lhn.1_RNA	p.A603D							7	2608	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000319509.7	37	c.1808C>A		.	.	.	.	.	.	.	.	.	.	C	18.54	3.645940	0.67358	.	.	ENSG00000169894	ENST00000319509;ENST00000422757	T;T	0.11495	3.28;2.77	2.08	1.14	0.20703	.	.	.	.	.	T	0.20007	0.0481	L	0.48362	1.52	0.25674	N	0.985864	D	0.71674	0.998	D	0.77557	0.99	T	0.18618	-1.0331	7	.	.	.	.	5.8825	0.18864	0.0:0.8128:0.0:0.1872	.	2368	Q02505	MUC3A_HUMAN	D	703;193	ENSP00000324834:A703D;ENSP00000406404:A193D	.	A	+	2	0	MUC3A	100395449	0.998000	0.40836	0.602000	0.28890	0.604000	0.37047	1.657000	0.37366	1.091000	0.41335	0.456000	0.33151	GCC		PASS	0.602	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347215.1	XM_001725354	Missense_Mutation	16	55	16	55	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677337	100677337	+	Silent	SNP	T	T	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:100677337T>G	ENST00000306151.4	+	3	2704	c.2640T>G	c.(2638-2640)tcT>tcG	p.S880S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	880	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.S880S(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)					TGGCCACTTCTGCAATCAGCA	0.493																																						uc003uxp.1																			1	Substitution - coding silent(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2638-2640)TCT>TCG		mucin 17 precursor							294.0	289.0	291.0					7																	100677337		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677337T>G	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.2640T>G	7.37:g.100677337T>G						MUC17_uc010lho.1_RNA	p.S880S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2693	+	Lung NSC(181;0.136)|all_lung(186;0.182)		880			Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.2640T>G	CCDS34711.1																																																																																				PASS	0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		182	264	182	264	---	---	---	---
FBXL13	222235	broad.mit.edu	37	7	102517978	102517978	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:102517978C>T	ENST00000313221.4	-	16	1997	c.1571G>A	c.(1570-1572)gGa>gAa	p.G524E	FBXL13_ENST00000379305.3_Missense_Mutation_p.G524E|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000436908.1_Missense_Mutation_p.G524E|FBXL13_ENST00000455112.2_Missense_Mutation_p.G524E|FBXL13_ENST00000393772.2_Missense_Mutation_p.G524E|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.G524E	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	524								p.G524E(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TACAATATATCCAATTCCTTG	0.318																																						uc003vaq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1570-1572)GGA>GAA		F-box and leucine-rich repeat protein 13 isoform							79.0	82.0	81.0					7																	102517978		2203	4293	6496	SO:0001583	missense	222235							g.chr7:102517978C>T	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1571G>A	7.37:g.102517978C>T	ENSP00000321927:p.Gly524Glu					FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.G524E|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.G524E	p.G524E	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN			16	1998	-			524			LRR 12.		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.1571G>A	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.252023	0.00268	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000349747;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.50813	0.73;4.4;0.73;4.4;4.4;4.4	5.55	1.8	0.24995	.	0.199006	0.39834	N	0.001259	T	0.10937	0.0267	N	0.00380	-1.58	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34675	-0.9819	10	0.02654	T	1	.	7.4315	0.27131	0.0:0.072:0.2712:0.6568	.	524;524;524	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	E	524;524;245;524;524;524;524	ENSP00000377367:G524E;ENSP00000368610:G524E;ENSP00000368607:G524E;ENSP00000388608:G524E;ENSP00000321927:G524E;ENSP00000391550:G524E	ENSP00000321927:G524E	G	-	2	0	FBXL13	102305214	0.938000	0.31826	0.160000	0.22671	0.084000	0.17831	1.108000	0.31123	0.125000	0.18397	-1.368000	0.01194	GGA		PASS	0.318	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		51	86	51	86	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103137095	103137095	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:103137095G>A	ENST00000428762.1	-	56	9230	c.9071C>T	c.(9070-9072)cCt>cTt	p.P3024L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.P3024L|RELN_ENST00000424685.2_Missense_Mutation_p.P3024L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3024					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.P3024L(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)		GATCACAAAAGGCTGCCACCA	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(9070-9072)CCT>CTT		reelin isoform a							119.0	100.0	106.0					7																	103137095		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103137095G>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.9071C>T	7.37:g.103137095G>A	ENSP00000392423:p.Pro3024Leu					RELN_uc010liz.2_Missense_Mutation_p.P3024L	p.P3024L	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	56	9231	-			3024					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9071C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854303	0.91355	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.32023	1.47;1.47;1.47	5.94	5.05	0.67936	Neuraminidase (2);	0.055477	0.64402	D	0.000001	T	0.57989	0.2091	M	0.78456	2.415	0.80722	D	1	D;P	0.89917	1.0;0.903	D;D	0.77557	0.99;0.935	T	0.64643	-0.6359	10	0.87932	D	0	.	16.4294	0.83835	0.0:0.0:0.8676:0.1324	.	3024;3024	P78509-2;P78509	.;RELN_HUMAN	L	3024;3024;3024;541;3024	ENSP00000392423:P3024L;ENSP00000345694:P3024L;ENSP00000388446:P3024L	ENSP00000345694:P3024L	P	-	2	0	RELN	102924331	1.000000	0.71417	0.990000	0.47175	0.980000	0.70556	9.476000	0.97823	1.479000	0.48272	0.650000	0.86243	CCT		PASS	0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		31	92	31	92	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103143641	103143641	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:103143641G>T	ENST00000428762.1	-	52	8470	c.8311C>A	c.(8311-8313)Cag>Aag	p.Q2771K	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.Q2771K|RELN_ENST00000424685.2_Missense_Mutation_p.Q2771K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2771					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.Q2771K(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)		ATTTGATTCTGGGCAATTTTT	0.388																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(8311-8313)CAG>AAG		reelin isoform a							80.0	81.0	81.0					7																	103143641		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103143641G>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8311C>A	7.37:g.103143641G>T	ENSP00000392423:p.Gln2771Lys					RELN_uc010liz.2_Missense_Mutation_p.Q2771K	p.Q2771K	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	52	8471	-			2771					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.8311C>A	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815193	0.50527	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.22134	1.97;1.97;1.97	5.23	5.23	0.72850	Neuraminidase (2);	0.182769	0.48767	D	0.000168	T	0.32224	0.0822	L	0.40543	1.245	0.45295	D	0.998297	P;D	0.53312	0.73;0.959	B;P	0.55011	0.312;0.766	T	0.01078	-1.1459	10	0.28530	T	0.3	.	18.8292	0.92130	0.0:0.0:1.0:0.0	.	2771;2771	P78509-2;P78509	.;RELN_HUMAN	K	2771;2771;2771;288;2771	ENSP00000392423:Q2771K;ENSP00000345694:Q2771K;ENSP00000388446:Q2771K	ENSP00000345694:Q2771K	Q	-	1	0	RELN	102930877	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.749000	0.74883	2.433000	0.82419	0.655000	0.94253	CAG		PASS	0.388	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		26	59	26	59	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103194108	103194108	+	Splice_Site	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:103194108G>C	ENST00000428762.1	-	39	6127	c.5968C>G	c.(5968-5970)Cct>Gct	p.P1990A	RELN_ENST00000343529.5_Splice_Site_p.P1990A|RELN_ENST00000424685.2_Splice_Site_p.P1990A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1990					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.P1990A(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)		AATACTTACGGTGCCCCCTTT	0.378																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(5968-5970)CCT>GCT		reelin isoform a							91.0	85.0	87.0					7																	103194108		2203	4300	6503	SO:0001630	splice_region_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.chr7:103194108G>C		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.5969+1C>G	7.37:g.103194108G>C						RELN_uc010liz.2_Missense_Mutation_p.P1990A	p.P1990A	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	39	6128	-			1990					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.5968C>G	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.262762	0.39995	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22336	1.96;1.96;1.96	5.77	5.77	0.91146	Neuraminidase (1);	0.121890	0.64402	D	0.000017	T	0.23451	0.0567	L	0.40543	1.245	0.42692	D	0.993581	B;P	0.48350	0.142;0.909	B;B	0.41271	0.065;0.352	T	0.01051	-1.1468	10	0.56958	D	0.05	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	1990;1990	P78509-2;P78509	.;RELN_HUMAN	A	1990	ENSP00000392423:P1990A;ENSP00000345694:P1990A;ENSP00000388446:P1990A	ENSP00000345694:P1990A	P	-	1	0	RELN	102981344	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.926000	0.70070	2.885000	0.99019	0.655000	0.94253	CCT		PASS	0.378	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Missense_Mutation	16	45	16	45	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103205999	103205999	+	Splice_Site	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:103205999C>A	ENST00000428762.1	-	34	5096		c.e34-1		RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						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.?(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)		CGAGGTTTTCCTGAAAAAAAA	0.363																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Unknown(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.e34-1		reelin isoform a							35.0	33.0	34.0					7																	103205999		2203	4300	6503	SO:0001630	splice_region_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.chr7:103205999C>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.4937-1G>T	7.37:g.103205999C>A						RELN_uc010liz.2_Splice_Site_p.G1646_splice	p.G1646_splice	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	34	5097	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37	c.4937_splice	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.239474	0.79800	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	102993235	1.000000	0.71417	1.000000	0.80357	0.790000	0.44656	7.061000	0.76699	2.941000	0.99782	0.655000	0.94253	.		PASS	0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	17	22	17	22	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103322621	103322621	+	Missense_Mutation	SNP	G	G	A	rs144978163		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:103322621G>A	ENST00000428762.1	-	11	1390	c.1231C>T	c.(1231-1233)Ctt>Ttt	p.L411F	RELN_ENST00000343529.5_Missense_Mutation_p.L411F|RELN_ENST00000424685.2_Missense_Mutation_p.L411F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	411					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.L411F(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)		TCTGTGGAAAGATCTACATCC	0.433																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1231-1233)CTT>TTT		reelin isoform a							167.0	152.0	157.0					7																	103322621		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103322621G>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.1231C>T	7.37:g.103322621G>A	ENSP00000392423:p.Leu411Phe					RELN_uc010liz.2_Missense_Mutation_p.L411F	p.L411F	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	11	1391	-			411					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1231C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799869	0.70567	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.45276	0.9;0.9;0.9	5.73	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.53867	0.1823	L	0.32530	0.975	0.51482	D	0.99992	D;D	0.65815	0.982;0.995	P;D	0.72982	0.764;0.979	T	0.52997	-0.8500	10	0.37606	T	0.19	.	17.3212	0.87236	0.0:0.1252:0.8748:0.0	.	411;411	P78509-2;P78509	.;RELN_HUMAN	F	411	ENSP00000392423:L411F;ENSP00000345694:L411F;ENSP00000388446:L411F	ENSP00000345694:L411F	L	-	1	0	RELN	103109857	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.823000	0.75282	1.574000	0.49760	-0.122000	0.15005	CTT		PASS	0.433	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		7	147	7	147	---	---	---	---
SRPK2	6733	broad.mit.edu	37	7	104809643	104809643	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:104809643C>A	ENST00000393651.3	-	4	386	c.299G>T	c.(298-300)tGg>tTg	p.W100L	SRPK2_ENST00000489828.1_Missense_Mutation_p.W89L|SRPK2_ENST00000357311.3_Missense_Mutation_p.W89L	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.W89L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GAAGTGCCCCCATCCAAGCTT	0.393																																						uc003vct.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(265-267)TGG>TTG		serine/arginine-rich protein-specific kinase 2							130.0	117.0	122.0					7																	104809643		2203	4300	6503	SO:0001583	missense	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104809643C>A	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.299G>T	7.37:g.104809643C>A	ENSP00000377262:p.Trp100Leu					SRPK2_uc003vcu.2_Missense_Mutation_p.W89L|SRPK2_uc003vcv.2_Missense_Mutation_p.W100L|SRPK2_uc003vcw.1_Missense_Mutation_p.W89L	p.W89L	NM_182691	NP_872633	P78362	SRPK2_HUMAN			3	453	-			89			Protein kinase.|ATP (By similarity).			Missense_Mutation	SNP	ENST00000393651.3	37	c.266G>T	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263267	0.95399	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897;ENST00000460391	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.81	5.81	0.92471	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	L	0.42581	1.335	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.77004	0.98;0.989	T	0.15009	-1.0452	10	0.87932	D	0	-7.8345	20.0784	0.97758	0.0:1.0:0.0:0.0	.	100;89	P78362-2;P78362	.;SRPK2_HUMAN	L	100;89;89;137;89	ENSP00000377262:W100L;ENSP00000349863:W89L;ENSP00000419791:W89L;ENSP00000419240:W137L;ENSP00000417357:W89L	ENSP00000349863:W89L	W	-	2	0	SRPK2	104596879	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.752000	0.85141	2.736000	0.93811	0.655000	0.94253	TGG		PASS	0.393	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		43	77	43	77	---	---	---	---
PRKAR2B	5577	broad.mit.edu	37	7	106786783	106786783	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:106786783T>C	ENST00000265717.4	+	6	877	c.618T>C	c.(616-618)gaT>gaC	p.D206D		NM_002736.2	NP_002727.2	P31323	KAP3_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, beta	206					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fatty acid metabolic process (GO:0006631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)	p.D206D(1)		breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						TGAAATGTGATGGTGTTGGAA	0.353																																						uc003vdx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(616-618)GAT>GAC		cAMP-dependent protein kinase, regulatory							163.0	145.0	151.0					7																	106786783		2203	4300	6503	SO:0001819	synonymous_variant	5577				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:106786783T>C		CCDS5740.1	7q22.3	2010-04-22			ENSG00000005249	ENSG00000005249	2.7.11.1		9392	protein-coding gene	gene with protein product		176912		PRKAR2		1358799	Standard	NM_002736		Approved		uc003vdx.3	P31323	OTTHUMG00000137418	ENST00000265717.4:c.618T>C	7.37:g.106786783T>C							p.D206D	NM_002736	NP_002727	P31323	KAP3_HUMAN			6	793	+			206			cAMP 1.		A4D0R9	Silent	SNP	ENST00000265717.4	37	c.618T>C	CCDS5740.1																																																																																				PASS	0.353	PRKAR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268386.1			23	98	23	98	---	---	---	---
DLD	1738	broad.mit.edu	37	7	107545940	107545940	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:107545940T>A	ENST00000205402.5	+	7	854	c.573T>A	c.(571-573)ccT>ccA	p.P191P	DLD_ENST00000537148.1_Silent_p.P92P|DLD_ENST00000437604.2_Intron|DLD_ENST00000440410.1_Silent_p.P168P	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	191					branched-chain amino acid catabolic process (GO:0009083)|cell redox homeostasis (GO:0045454)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|gastrulation (GO:0007369)|lysine catabolic process (GO:0006554)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|proteolysis (GO:0006508)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of membrane potential (GO:0042391)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|tricarboxylic acid cycle (GO:0006099)	acrosomal matrix (GO:0043159)|cilium (GO:0005929)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dihydrolipoyl dehydrogenase activity (GO:0004148)|flavin adenine dinucleotide binding (GO:0050660)	p.P191P(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					Flavin adenine dinucleotide(DB03147)	CTCCTTTTCCTGGAATCACGG	0.348																																						uc003vet.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(1)	1						c.(571-573)CCT>CCA		dihydrolipoamide dehydrogenase precursor	NADH(DB00157)						118.0	113.0	115.0					7																	107545940		2203	4300	6503	SO:0001819	synonymous_variant	1738				branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity	g.chr7:107545940T>A	AB209703	CCDS5749.1	7q31-q32	2006-05-22	2006-05-22		ENSG00000091140	ENSG00000091140	1.8.1.4		2898	protein-coding gene	gene with protein product	"""E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex"""	238331	"""dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex)"""	LAD, GCSL			Standard	NM_000108		Approved	DLDH	uc003vet.3	P09622	OTTHUMG00000154813	ENST00000205402.5:c.573T>A	7.37:g.107545940T>A						DLD_uc010ljm.1_RNA|DLD_uc011kmg.1_Intron|DLD_uc011kmh.1_Silent_p.P168P|DLD_uc011kmi.1_Silent_p.P92P	p.P191P	NM_000108	NP_000099	P09622	DLDH_HUMAN			7	683	+			191					B2R5X0|B4DHG0|B4DT69|Q14131|Q14167|Q59EV8|Q8WTS4	Silent	SNP	ENST00000205402.5	37	c.573T>A	CCDS5749.1																																																																																				PASS	0.348	DLD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337194.3	NM_000108		32	118	32	118	---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111430512	111430512	+	Splice_Site	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:111430512C>T	ENST00000437633.1	-	31	3572		c.e31+1		DOCK4_ENST00000428084.1_Splice_Site	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4						cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)	p.?(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CTTCTGCCTACCTGTTTAAAG	0.468																																						uc003vfx.2																			2	Unknown(2)		lung(2)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4						c.e31+1		dedicator of cytokinesis 4							61.0	60.0	61.0					7																	111430512		1941	4137	6078	SO:0001630	splice_region_variant	9732				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	g.chr7:111430512C>T		CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.3315+1G>A	7.37:g.111430512C>T						DOCK4_uc011kmm.1_5'Flank|DOCK4_uc003vfw.2_Splice_Site_p.Q546_splice|DOCK4_uc003vfy.2_Splice_Site_p.Q1141_splice	p.Q1105_splice	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN			31	3584	-		Acute lymphoblastic leukemia(1;0.0441)						O14584|O94824|Q8NB45	Splice_Site	SNP	ENST00000437633.1	37	c.3315_splice	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770678	0.90108	.	.	ENSG00000128512	ENST00000352877;ENST00000423057;ENST00000428084;ENST00000437633;ENST00000445943;ENST00000342288	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2125	0.93763	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK4	111217748	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.515000	0.81761	2.840000	0.97914	0.655000	0.94253	.		PASS	0.468	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	Intron	17	32	17	32	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117432076	117432076	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:117432076G>C	ENST00000160373.3	-	4	1265	c.1174C>G	c.(1174-1176)Cca>Gca	p.P392A	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	392	Pro-rich.				brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.P392A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTTGGATCTGGTGTTGAGCCA	0.542																																						uc003vjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1174-1176)CCA>GCA		cortactin binding protein 2							193.0	161.0	172.0					7																	117432076		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117432076G>C		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.1174C>G	7.37:g.117432076G>C	ENSP00000160373:p.Pro392Ala						p.P392A	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	4	1266	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		392			Pro-rich.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.1174C>G	CCDS5774.1	.	.	.	.	.	.	.	.	.	.	G	0.506	-0.868675	0.02570	.	.	ENSG00000077063	ENST00000160373	T	0.67698	-0.28	5.15	-0.0285	0.13922	.	0.289572	0.38663	N	0.001614	T	0.59715	0.2214	M	0.63428	1.95	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.53809	-0.8386	10	0.48119	T	0.1	2.9038	11.5299	0.50601	0.0681:0.493:0.4389:0.0	.	392	Q8WZ74	CTTB2_HUMAN	A	392	ENSP00000160373:P392A	ENSP00000160373:P392A	P	-	1	0	CTTNBP2	117219312	.	.	0.000000	0.03702	0.006000	0.05464	.	.	-0.219000	0.10003	-0.903000	0.02851	CCA		PASS	0.542	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		61	158	61	158	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128494159	128494159	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:128494159C>A	ENST00000325888.8	+	40	6877	c.6616C>A	c.(6616-6618)Cgg>Agg	p.R2206R	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.R2173R	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2206	Intradomain insert; mediate targeting to Z lines.				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.R2206R(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						GCGCGAGGTGCGGGTGGAGGA	0.692																																						uc003vnz.3																			1	Substitution - coding silent(1)		lung(1)	breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(6616-6618)CGG>AGG		gamma filamin isoform a							19.0	25.0	23.0					7																	128494159		1974	4139	6113	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128494159C>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.6616C>A	7.37:g.128494159C>A						FLNC_uc003voa.3_Silent_p.R2173R	p.R2206R	NM_001458	NP_001449	Q14315	FLNC_HUMAN			40	6825	+			2206			Intradomain insert.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.6616C>A	CCDS43644.1																																																																																				PASS	0.692	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			34	24	34	24	---	---	---	---
TSPAN33	340348	broad.mit.edu	37	7	128802338	128802338	+	Silent	SNP	C	C	A	rs142963022		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:128802338C>A	ENST00000289407.4	+	3	373	c.264C>A	c.(262-264)cgC>cgA	p.R88R	Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	88					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)	p.R88R(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GGTCCCTCCGCGAGAACATCT	0.627																																						uc003vop.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(262-264)CGC>CGA		tetraspanin 33							108.0	84.0	92.0					7																	128802338		2203	4300	6503	SO:0001819	synonymous_variant	340348					integral to membrane		g.chr7:128802338C>A		CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.264C>A	7.37:g.128802338C>A							p.R88R	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN			3	493	+			88			Cytoplasmic (Potential).			Silent	SNP	ENST00000289407.4	37	c.264C>A	CCDS5810.1																																																																																				PASS	0.627	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562		19	34	19	34	---	---	---	---
WDR91	29062	broad.mit.edu	37	7	134890724	134890724	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:134890724C>A	ENST00000354475.4	-	5	712	c.681G>T	c.(679-681)ttG>ttT	p.L227F	WDR91_ENST00000344400.5_Missense_Mutation_p.L227F|WDR91_ENST00000423565.1_Missense_Mutation_p.L192F|WDR91_ENST00000485942.1_5'UTR	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	227								p.L227F(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CATAAGGAGGCAATTTGTGTT	0.532																																						uc003vsp.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(679-681)TTG>TTT		WD repeat domain 91							311.0	267.0	282.0					7																	134890724		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134890724C>A	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.681G>T	7.37:g.134890724C>A	ENSP00000346466:p.Leu227Phe					WDR91_uc010lmq.2_5'UTR|WDR91_uc010lmr.2_RNA	p.L227F	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN			5	743	-			227					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.681G>T	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911773	0.72983	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.69306	1.14;-0.39;0.17	5.48	1.09	0.20402	.	0.064498	0.64402	D	0.000006	T	0.62551	0.2437	L	0.34521	1.04	0.58432	D	0.999994	D	0.76494	0.999	P	0.60609	0.877	T	0.61811	-0.6986	10	0.72032	D	0.01	-9.5344	2.9258	0.05784	0.1243:0.5016:0.122:0.2521	.	227	A4D1P6	WDR91_HUMAN	F	227;227;192	ENSP00000340877:L227F;ENSP00000346466:L227F;ENSP00000392555:L192F	ENSP00000340877:L227F	L	-	3	2	WDR91	134541264	0.983000	0.35010	0.994000	0.49952	0.991000	0.79684	0.234000	0.17930	0.662000	0.31006	0.655000	0.94253	TTG		PASS	0.532	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	NM_014149		61	166	61	166	---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138258362	138258362	+	Silent	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:138258362A>G	ENST00000343526.4	+	12	2204	c.1989A>G	c.(1987-1989)tcA>tcG	p.S663S	TRIM24_ENST00000415680.2_Silent_p.S629S			O15164	TIF1A_HUMAN	tripartite motif containing 24	663					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S663S(1)|p.S629S(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CACCAAATTCATCAGTGCCAT	0.398																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(1987-1989)TCA>TCG		transcriptional intermediary factor 1 alpha							123.0	115.0	118.0					7																	138258362		2203	4300	6503	SO:0001819	synonymous_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138258362A>G	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1989A>G	7.37:g.138258362A>G						TRIM24_uc003vub.2_Silent_p.S629S	p.S663S	NM_015905	NP_056989	O15164	TIF1A_HUMAN			12	2204	+			663					A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	c.1989A>G	CCDS5847.1																																																																																				PASS	0.398	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		47	123	47	123	---	---	---	---
TMEM213	155006	broad.mit.edu	37	7	138487700	138487700	+	Silent	SNP	C	C	T	rs376442871		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:138487700C>T	ENST00000442682.2	+	3	363	c.210C>T	c.(208-210)taC>taT	p.Y70Y	TMEM213_ENST00000458494.1_Silent_p.Y46Y|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000397602.3_Silent_p.Y69Y|TMEM213_ENST00000422794.2_Silent_p.Y120Y	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	70						integral component of membrane (GO:0016021)		p.Y70Y(2)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						TGGACGAGTACGGCTGGATCG	0.622																																						uc010lna.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(208-210)TAC>TAT		transmembrane protein 213		T		1,4285		0,1,2142	35.0	41.0	39.0		210	-9.1	0.0	7		39	0,8472		0,0,4236	no	coding-synonymous	TMEM213	NM_001085429.1		0,1,6378	TT,TC,CC		0.0,0.0233,0.0078		70/108	138487700	1,12757	2143	4236	6379	SO:0001819	synonymous_variant	155006					integral to membrane		g.chr7:138487700C>T		CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.210C>T	7.37:g.138487700C>T						TMEM213_uc010lnb.2_Silent_p.Y69Y	p.Y70Y	NM_001085429	NP_001078898	A2RRL7	TM213_HUMAN			3	321	+			70			Extracellular (Potential).		A4D1R3|C9JH49|C9JX41|C9K0P0	Silent	SNP	ENST00000442682.2	37	c.210C>T	CCDS47722.1																																																																																				PASS	0.622	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347800.2	NM_001085429		25	40	25	40	---	---	---	---
TAS2R41	259287	broad.mit.edu	37	7	143175842	143175842	+	Missense_Mutation	SNP	G	G	C	rs201784924		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:143175842G>C	ENST00000408916.1	+	1	877	c.877G>C	c.(877-879)Gtg>Ctg	p.V293L	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	293					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V293L(1)		endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCTTCGAAGCGTGTTCTCGCA	0.512																																						uc003wdc.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(877-879)GTG>CTG		taste receptor, type 2, member 41							105.0	98.0	100.0					7																	143175842		2067	4196	6263	SO:0001583	missense	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175842G>C	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.877G>C	7.37:g.143175842G>C	ENSP00000386201:p.Val293Leu					uc003wda.2_Intron	p.V293L	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	877	+	Melanoma(164;0.15)		293			Cytoplasmic (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Missense_Mutation	SNP	ENST00000408916.1	37	c.877G>C	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663377	0.14710	.	.	ENSG00000221855	ENST00000408916	T	0.37058	1.22	6.0	-3.04	0.05412	.	0.667275	0.11457	U	0.562192	T	0.31544	0.0800	L	0.45137	1.4	0.09310	N	1	P	0.42010	0.768	P	0.44811	0.461	T	0.30592	-0.9973	10	0.20046	T	0.44	.	12.6724	0.56874	0.3222:0.0:0.6778:0.0	.	293	P59536	T2R41_HUMAN	L	293	ENSP00000386201:V293L	ENSP00000386201:V293L	V	+	1	0	TAS2R41	142885964	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.067000	0.11579	-0.527000	0.06374	-1.876000	0.00548	GTG		PASS	0.512	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			21	43	21	43	---	---	---	---
KRBA1	84626	broad.mit.edu	37	7	149420915	149420915	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:149420915G>T	ENST00000485033.2	+	7	863	c.863G>T	c.(862-864)aGt>aTt	p.S288I	KRBA1_ENST00000255992.10_Missense_Mutation_p.S288I|KRBA1_ENST00000319551.8_Missense_Mutation_p.S288I|KRBA1_ENST00000479560.1_3'UTR			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	288								p.S288I(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGCATCCCAGTCCCTCAGGA	0.612																																						uc003wfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(862-864)AGT>ATT		KRAB A domain containing 1							53.0	58.0	56.0					7																	149420915		1852	4088	5940	SO:0001583	missense	84626							g.chr7:149420915G>T	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.863G>T	7.37:g.149420915G>T	ENSP00000420112:p.Ser288Ile					KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'UTR	p.S288I	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		8	1262	+	Melanoma(164;0.165)|Ovarian(565;0.177)		288					A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Missense_Mutation	SNP	ENST00000485033.2	37	c.863G>T		.	.	.	.	.	.	.	.	.	.	G	12.43	1.936350	0.34189	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	T;T;T	0.47869	0.85;0.83;0.83	5.0	1.08	0.20341	.	0.721720	0.12549	N	0.459232	T	0.38161	0.1030	L	0.29908	0.895	0.09310	N	1	P	0.43701	0.815	P	0.46389	0.515	T	0.22138	-1.0225	10	0.66056	D	0.02	-1.8997	4.8844	0.13696	0.2662:0.1539:0.5799:0.0	.	288	A5PL33	KRBA1_HUMAN	I	288	ENSP00000255992:S288I;ENSP00000317165:S288I;ENSP00000420112:S288I	ENSP00000255992:S288I	S	+	2	0	KRBA1	149051848	0.002000	0.14202	0.015000	0.15790	0.006000	0.05464	0.974000	0.29436	-0.074000	0.12820	-0.150000	0.13652	AGT		PASS	0.612	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534		37	49	37	49	---	---	---	---
GIMAP6	474344	broad.mit.edu	37	7	150324891	150324891	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:150324891C>A	ENST00000328902.5	-	3	1011	c.795G>T	c.(793-795)gaG>gaT	p.E265D	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	265						cytosol (GO:0005829)	GTP binding (GO:0005525)	p.E265D(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCAAGACTCCTCACCAGGCA	0.542																																						uc003whn.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(793-795)GAG>GAT		GTPase, IMAP family member 6							120.0	97.0	105.0					7																	150324891		2203	4300	6503	SO:0001583	missense	474344						GTP binding	g.chr7:150324891C>A	AK026343	CCDS34778.1, CCDS59087.1, CCDS75676.1	7q36.1	2014-04-04			ENSG00000133561	ENSG00000133561		"""GTPases, IMAP"""	21918	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 6"""					15474311	Standard	NM_001244072		Approved	FLJ22690, IAN6	uc022apv.1	Q6P9H5	OTTHUMG00000159137	ENST00000328902.5:c.795G>T	7.37:g.150324891C>A	ENSP00000330374:p.Glu265Asp					GIMAP6_uc003whm.2_Missense_Mutation_p.E185D	p.E265D	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1219	-			265					C9J7B6|D3DWZ4|Q5ZPR6|Q9H612	Missense_Mutation	SNP	ENST00000328902.5	37	c.795G>T	CCDS34778.1	.	.	.	.	.	.	.	.	.	.	C	4.083	0.013278	0.07912	.	.	ENSG00000133561	ENST00000328902;ENST00000392862	T	0.06142	3.34	4.17	-4.27	0.03744	.	2.390890	0.01632	N	0.023561	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B	0.17268	0.001;0.021	B;B	0.12837	0.003;0.008	T	0.39542	-0.9609	10	0.21014	T	0.42	.	8.5752	0.33595	0.0:0.7218:0.1236:0.1546	.	265;185	Q6P9H5;Q6P9H5-2	GIMA6_HUMAN;.	D	265;326	ENSP00000330374:E265D	ENSP00000330374:E265D	E	-	3	2	GIMAP6	149955824	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.050000	0.11904	-1.462000	0.01907	-1.004000	0.02495	GAG		PASS	0.542	GIMAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353457.1	NM_024711		41	102	41	102	---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155530995	155530995	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:155530995G>T	ENST00000401878.3	+	11	1833	c.1635G>T	c.(1633-1635)caG>caT	p.Q545H		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	545	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q545H(2)		breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		ACTTTAGCCAGCCTGGGTCGG	0.612																																						uc010lqk.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1633-1635)CAG>CAT		RNA binding motif protein 33							64.0	71.0	69.0					7																	155530995		2059	4194	6253	SO:0001583	missense	155435						nucleotide binding|RNA binding	g.chr7:155530995G>T	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1635G>T	7.37:g.155530995G>T	ENSP00000384160:p.Gln545His					RBM33_uc011kvv.1_Missense_Mutation_p.Q354H	p.Q545H	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	2003	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	545			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	ENST00000401878.3	37	c.1635G>T	CCDS5941.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.418523|2.418523	0.42918|0.42918	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000401878|ENST00000392761	T|.	0.56103|.	0.48|.	4.92|4.92	2.82|2.82	0.32997|0.32997	.|.	0.000000|.	0.38005|.	U|.	0.001853|.	T|T	0.61123|0.61123	0.2322|0.2322	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.81914|.	0.995;0.995|.	T|T	0.58418|0.58418	-0.7640|-0.7640	10|5	0.18710|.	T|.	0.47|.	.|.	10.1738|10.1738	0.42927|0.42927	0.2193:0.0:0.7807:0.0|0.2193:0.0:0.7807:0.0	.|.	262;545|.	B4DVQ2;Q96EV2|.	.;RBM33_HUMAN|.	H|I	545|317	ENSP00000384160:Q545H|.	ENSP00000384160:Q545H|.	Q|S	+|+	3|2	2|0	RBM33|RBM33	155223756|155223756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.916000|0.916000	0.54674|0.54674	1.491000|1.491000	0.35583|0.35583	1.069000|1.069000	0.40788|0.40788	0.467000|0.467000	0.42956|0.42956	CAG|AGC		PASS	0.612	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		26	69	26	69	---	---	---	---
MNX1	3110	broad.mit.edu	37	7	156798509	156798509	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:156798509T>C	ENST00000252971.6	-	3	1211	c.911A>G	c.(910-912)gAg>gGg	p.E304G	MNX1_ENST00000543409.1_Missense_Mutation_p.E92G|MNX1_ENST00000469500.1_Intron|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	304					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E304G(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCCGCCTGCTCTTTGGCCTT	0.687																																						uc003wnd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(910-912)GAG>GGG		motor neuron and pancreas homeobox 1 isoform 1							32.0	41.0	38.0					7																	156798509		2203	4298	6501	SO:0001583	missense	3110	Currarino_syndrome			humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:156798509T>C	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.911A>G	7.37:g.156798509T>C	ENSP00000252971:p.Glu304Gly					MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.E97G|MNX1_uc003wnc.1_Missense_Mutation_p.E92G|MNX1_uc010lqr.1_RNA	p.E304G	NM_005515	NP_005506	P50219	MNX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	1214	-	Ovarian(565;0.218)	all_hematologic(28;0.0592)	304					F5H401|Q9Y648	Missense_Mutation	SNP	ENST00000252971.6	37	c.911A>G	CCDS34788.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.848458	0.91277	.	.	ENSG00000130675	ENST00000252971;ENST00000543409;ENST00000542972	D;D	0.93133	-2.94;-3.17	4.12	4.12	0.48240	.	0.000000	0.40554	U	0.001076	D	0.91730	0.7385	M	0.68593	2.085	0.45097	D	0.99811	B;B;B	0.23058	0.048;0.021;0.079	B;B;B	0.24155	0.023;0.039;0.051	D	0.90182	0.4243	10	0.52906	T	0.07	-28.3939	13.1119	0.59278	0.0:0.0:0.0:1.0	.	140;304;92	Q9UDY3;P50219;F5H401	.;MNX1_HUMAN;.	G	304;92;134	ENSP00000252971:E304G;ENSP00000438552:E92G	ENSP00000252971:E304G	E	-	2	0	MNX1	156491270	1.000000	0.71417	0.999000	0.59377	0.946000	0.59487	5.771000	0.68881	1.626000	0.50381	0.254000	0.18369	GAG		PASS	0.687	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347796.3			20	48	20	48	---	---	---	---
VIPR2	7434	broad.mit.edu	37	7	158851172	158851172	+	Splice_Site	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr7:158851172C>A	ENST00000262178.2	-	5	640	c.455G>T	c.(454-456)aGg>aTg	p.R152M	VIPR2_ENST00000402066.1_Splice_Site_p.R293M|VIPR2_ENST00000377633.3_Splice_Site_p.R136M	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	152					activation of adenylate cyclase activity (GO:0007190)|cell-cell signaling (GO:0007267)|negative regulation of smooth muscle cell proliferation (GO:0048662)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.R152M(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		TGCTCCTTACCTGAAGAGGCA	0.448																																					Pancreas(154;1876 1931 2329 17914 20079)	uc003woh.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(454-456)AGG>ATG		vasoactive intestinal peptide receptor 2							140.0	139.0	139.0					7																	158851172		2203	4300	6503	SO:0001630	splice_region_variant	7434				cell-cell signaling	integral to plasma membrane		g.chr7:158851172C>A	CA449700, X95097	CCDS5950.1	7q36.3	2012-08-10			ENSG00000106018	ENSG00000106018		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	12695	protein-coding gene	gene with protein product	"""VIP and PACAP receptor 2"""	601970				7811244	Standard	NM_003382		Approved	VPAC2, VPAC2R	uc003woh.3	P41587	OTTHUMG00000151446	ENST00000262178.2:c.455+1G>T	7.37:g.158851172C>A						VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA	p.R152M	NM_003382	NP_003373	P41587	VIPR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)	5	641	-	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	152			Cytoplasmic (Potential).		Q13053|Q15870|Q53Y09|Q6ZN22|Q9UCW0	Missense_Mutation	SNP	ENST00000262178.2	37	c.455G>T	CCDS5950.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.275437	0.80580	.	.	ENSG00000106018	ENST00000262178;ENST00000377633;ENST00000402066	T;T;T	0.58940	0.3;0.3;0.3	5.7	5.7	0.88788	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000021	D	0.84406	0.5465	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89376	0.3678	9	.	.	.	.	15.3398	0.74287	0.0:1.0:0.0:0.0	.	152	P41587	VIPR2_HUMAN	M	152;136;293	ENSP00000262178:R152M;ENSP00000366860:R136M;ENSP00000384497:R293M	.	R	-	2	0	VIPR2	158543933	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.564000	0.45931	2.694000	0.91930	0.651000	0.88453	AGG		PASS	0.448	VIPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322675.1	NM_003382	Missense_Mutation	46	101	46	101	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10466396	10466396	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:10466396G>A	ENST00000382483.3	-	4	5435	c.5212C>T	c.(5212-5214)Cct>Tct	p.P1738S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1818					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.P1738S(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)		TCCACTCCAGGCCCCTGGCTC	0.657																																						uc003wtc.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(5212-5214)CCT>TCT		retinitis pigmentosa 1-like 1							85.0	93.0	90.0					8																	10466396		1964	4160	6124	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466396G>A	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.5212C>T	8.37:g.10466396G>A	ENSP00000371923:p.Pro1738Ser						p.P1738S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5441	-			1738					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5212C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	0.812	-0.751788	0.03041	.	.	ENSG00000183638	ENST00000382483	T	0.03831	3.79	3.6	-2.59	0.06209	.	.	.	.	.	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	B	0.26081	0.141	B	0.17722	0.019	T	0.47959	-0.9076	9	0.10636	T	0.68	-0.3569	1.3493	0.02169	0.332:0.2062:0.3338:0.128	.	1738	A6NKC6	.	S	1738	ENSP00000371923:P1738S	ENSP00000371923:P1738S	P	-	1	0	RP1L1	10503806	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.190000	0.17057	0.006000	0.14734	0.313000	0.20887	CCT		PASS	0.657	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			73	172	73	172	---	---	---	---
GATA4	2626	broad.mit.edu	37	8	11607694	11607694	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:11607694G>A	ENST00000335135.4	+	4	1416	c.858G>A	c.(856-858)gcG>gcA	p.A286A	GATA4_ENST00000532059.1_Silent_p.A287A|GATA4_ENST00000528712.1_Silent_p.A80A	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	286					atrial septum morphogenesis (GO:0060413)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac ventricle morphogenesis (GO:0003208)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube anterior/posterior pattern specification (GO:0035054)|endocardial cushion development (GO:0003197)|endoderm development (GO:0007492)|endoderm formation (GO:0001706)|epithelial cell fate commitment (GO:0072148)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|lung lobe formation (GO:0060464)|male gonad development (GO:0008584)|negative regulation of autophagy (GO:0010507)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to mechanical stimulus (GO:0009612)|seminiferous tubule development (GO:0072520)|Sertoli cell differentiation (GO:0060008)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A286A(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		GCCGCAATGCGGAGGGCGAGC	0.637																																						uc003wuc.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(856-858)GCG>GCA		GATA binding protein 4							62.0	50.0	54.0					8																	11607694		2203	4300	6503	SO:0001819	synonymous_variant	2626				atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:11607694G>A	AK097060	CCDS5983.1	8p23.1-p22	2013-01-25	2001-11-28		ENSG00000136574	ENSG00000136574		"""GATA zinc finger domain containing"""	4173	protein-coding gene	gene with protein product		600576	"""GATA-binding protein 4"""			7665171	Standard	NM_002052		Approved		uc003wuc.2	P43694	OTTHUMG00000090800	ENST00000335135.4:c.858G>A	8.37:g.11607694G>A						GATA4_uc003wub.1_Silent_p.A80A|GATA4_uc011kxc.1_Silent_p.A287A	p.A286A	NM_002052	NP_002043	P43694	GATA4_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)	4	1412	+	all_epithelial(15;0.0839)		286			GATA-type 2.		B7ZKX0|B7ZKZ4|Q3MJ45|Q5IFM8	Silent	SNP	ENST00000335135.4	37	c.858G>A	CCDS5983.1																																																																																				PASS	0.637	GATA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207587.2	NM_002052		23	39	23	39	---	---	---	---
LPL	4023	broad.mit.edu	37	8	19811777	19811777	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:19811777G>T	ENST00000311322.8	+	5	1158	c.688G>T	c.(688-690)Gtt>Ttt	p.V230F		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	230					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)	p.V230F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	AGTTGGGCATGTTGACATTTA	0.453																																						uc003wzk.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(688-690)GTT>TTT		lipoprotein lipase precursor	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						132.0	126.0	128.0					8																	19811777		2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811777G>T		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.688G>T	8.37:g.19811777G>T	ENSP00000309757:p.Val230Phe						p.V230F	NM_000237	NP_000228	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1058	+			230					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.688G>T	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675776	0.67928	.	.	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.92199	-2.99	6.17	5.3	0.74995	Lipase, N-terminal (1);	0.158881	0.53938	D	0.000048	D	0.94932	0.8361	M	0.78344	2.41	0.33077	D	0.536089	D	0.60575	0.988	D	0.67548	0.952	D	0.96513	0.9380	8	.	.	.	-22.5018	9.5567	0.39343	0.1566:0.0:0.8434:0.0	.	230	P06858	LIPL_HUMAN	F	230;154;216	ENSP00000309757:V230F	.	V	+	1	0	LPL	19856057	1.000000	0.71417	0.996000	0.52242	0.894000	0.52154	2.400000	0.44504	1.636000	0.50526	0.655000	0.94253	GTT		PASS	0.453	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3			50	112	50	112	---	---	---	---
SLC25A37	51312	broad.mit.edu	37	8	23423751	23423751	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:23423751C>T	ENST00000519973.1	+	2	539	c.341C>T	c.(340-342)gCa>gTa	p.A114V	SLC25A37_ENST00000517923.1_3'UTR	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	114					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)	p.A114V(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		ATCATGGGTGCAGGGCCGGCC	0.512																																						uc003xdo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(340-342)GCA>GTA		solute carrier family 25, member 37							74.0	73.0	73.0					8																	23423751		1944	4133	6077	SO:0001583	missense	51312				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		g.chr8:23423751C>T	AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.341C>T	8.37:g.23423751C>T	ENSP00000429200:p.Ala114Val					SLC25A37_uc003xdn.1_Missense_Mutation_p.A114V|SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_5'Flank	p.A114V	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)	2	494	+		Prostate(55;0.114)	114			Solcar 1.|Helical; Name=2; (Potential).		A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Missense_Mutation	SNP	ENST00000519973.1	37	c.341C>T	CCDS47828.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865952	0.91511	.	.	ENSG00000147454	ENST00000519973;ENST00000523930	T;T	0.77750	-1.12;-1.12	5.63	5.63	0.86233	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	L	0.58510	1.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	D	0.87389	0.2362	10	0.87932	D	0	-1.1077	18.2734	0.90076	0.0:1.0:0.0:0.0	.	114;114	Q9NYZ2;Q9NYZ2-2	MFRN1_HUMAN;.	V	114;95	ENSP00000429200:A114V;ENSP00000428066:A95V	ENSP00000290075:A114V	A	+	2	0	SLC25A37	23479696	1.000000	0.71417	0.286000	0.24833	0.707000	0.40811	7.466000	0.80914	2.652000	0.90054	0.655000	0.94253	GCA		PASS	0.512	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376039.1	NM_016612		20	44	20	44	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25222158	25222158	+	Missense_Mutation	SNP	A	A	G	rs139275574		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:25222158A>G	ENST00000276440.7	+	30	3105	c.3061A>G	c.(3061-3063)Ata>Gta	p.I1021V		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1021					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.I1021V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TCTCCGTGCTATAAATCAGTT	0.408													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18389	0.0		0.0	False		,,,				2504	0.0				Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(3061-3063)ATA>GTA		dedicator of cytokinesis 5		A	VAL/ILE	4,4402	9.9+/-24.2	0,4,2199	138.0	118.0	125.0		3061	5.6	0.9	8	dbSNP_134	125	0,8600		0,0,4300	yes	missense	DOCK5	NM_024940.6	29	0,4,6499	GG,GA,AA		0.0,0.0908,0.0308	benign	1021/1871	25222158	4,13002	2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25222158A>G		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.3061A>G	8.37:g.25222158A>G	ENSP00000276440:p.Ile1021Val					DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.I735V|DOCK5_uc003xei.2_Missense_Mutation_p.I591V|DOCK5_uc003xej.2_RNA	p.I1021V	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	30	3198	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1021					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.3061A>G	CCDS6047.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.67|14.67	2.605057|2.605057	0.46423|0.46423	9.08E-4|9.08E-4	0.0|0.0	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.26518|.	1.73|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.051158|.	0.85682|.	D|.	0.000000|.	T|T	0.52805|0.52805	0.1757|0.1757	L|L	0.33485|0.33485	1.01|1.01	0.51767|0.51767	D|D	0.999939|0.999939	B;B;B|.	0.09022|.	0.001;0.002;0.001|.	B;B;B|.	0.12837|.	0.005;0.008;0.005|.	T|T	0.50642|0.50642	-0.8804|-0.8804	10|5	0.27082|.	T|.	0.32|.	.|.	10.5087|10.5087	0.44849|0.44849	0.9186:0.0:0.0814:0.0|0.9186:0.0:0.0814:0.0	.|.	1011;796;1021|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	V|C	1021|792	ENSP00000276440:I1021V|.	ENSP00000276440:I1021V|.	I|Y	+|+	1|2	0|0	DOCK5|DOCK5	25278075|25278075	1.000000|1.000000	0.71417|0.71417	0.901000|0.901000	0.35422|0.35422	0.926000|0.926000	0.56050|0.56050	5.188000|5.188000	0.65093|0.65093	2.142000|2.142000	0.66516|0.66516	0.528000|0.528000	0.53228|0.53228	ATA|TAT		PASS	0.408	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		3	17	3	17	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43147760	43147760	+	RNA	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:43147760G>T	ENST00000522175.2	+	0	135							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.A45S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAACATGGGTGCTTGGAGAGA	0.597																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(133-135)GCT>TCT		POTE ankyrin domain family, member A isoform 2							62.0	67.0	65.0					8																	43147760		2203	4300	6503			340441							g.chr8:43147760G>T	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43147760G>T						POTEA_uc003xqa.1_Missense_Mutation_p.A45S	p.A45S	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			1	176	+			45					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.133G>T																																																																																					PASS	0.597	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		42	85	42	85	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67509581	67509581	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:67509581T>C	ENST00000522677.3	-	5	906	c.496A>G	c.(496-498)Aaa>Gaa	p.K166E	MYBL1_ENST00000524176.2_Missense_Mutation_p.K166E|MYBL1_ENST00000517885.1_Intron	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	166	HTH myb-type 3. {ECO:0000255|PROSITE- ProRule:PRU00625}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|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)	p.K166E(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			GGAAGTAGTTTGGCAATTTCT	0.383																																						uc003xwj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(496-498)AAA>GAA		v-myb myeloblastosis viral oncogene homolog							80.0	69.0	72.0					8																	67509581		1838	4086	5924	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67509581T>C	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.496A>G	8.37:g.67509581T>C	ENSP00000429633:p.Lys166Glu					MYBL1_uc003xwl.2_Missense_Mutation_p.K166E|MYBL1_uc003xwk.2_Missense_Mutation_p.K166E	p.K166E	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		5	903	-			166			HTH myb-type 3.|H-T-H motif (By similarity).		E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.496A>G	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964121	0.92791	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.43688	0.94;0.94	5.24	5.24	0.73138	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.57548	0.2061	L	0.56396	1.775	0.80722	D	1	P;B;P	0.44006	0.824;0.277;0.669	P;B;P	0.56823	0.807;0.321;0.455	T	0.60156	-0.7318	10	0.66056	D	0.02	-20.1024	15.1404	0.72607	0.0:0.0:0.0:1.0	.	166;166;166	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	E	166	ENSP00000429633:K166E;ENSP00000428011:K166E	ENSP00000429633:K166E	K	-	1	0	MYBL1	67672135	1.000000	0.71417	0.996000	0.52242	0.963000	0.63663	7.991000	0.88244	1.970000	0.57323	0.459000	0.35465	AAA		PASS	0.383	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		12	9	12	9	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68007903	68007903	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:68007903G>T	ENST00000262210.5	+	6	917	c.886G>T	c.(886-888)Gat>Tat	p.D296Y	CSPP1_ENST00000412460.1_Missense_Mutation_p.D2Y	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	331					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.D296Y(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGAAGAAATGGATGAGAGGTT	0.328																																						uc003xxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(991-993)GAT>TAT		centrosome spindle pole associated protein 1							63.0	59.0	60.0					8																	68007903		1840	4081	5921	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68007903G>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.886G>T	8.37:g.68007903G>T	ENSP00000262210:p.Asp296Tyr					CSPP1_uc003xxg.1_Missense_Mutation_p.D323Y|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.D296Y|CSPP1_uc003xxk.2_Missense_Mutation_p.D2Y	p.D331Y	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		8	1022	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	331					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.991G>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.768875	0.69878	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.78595	-1.19;1.14;1.14	5.87	4.99	0.66335	.	0.097775	0.43260	D	0.000586	T	0.77705	0.4170	L	0.42245	1.32	0.36941	D	0.892396	D;B;D;D	0.89917	1.0;0.441;0.993;0.993	D;B;P;P	0.65874	0.939;0.236;0.858;0.858	T	0.73733	-0.3890	10	0.02654	T	1	-20.9078	10.0915	0.42449	0.0693:0.0:0.7959:0.1348	.	2;296;331;331	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	Y	296;331;2;2	ENSP00000262210:D296Y;ENSP00000415782:D2Y;ENSP00000430092:D2Y	ENSP00000262210:D296Y	D	+	1	0	CSPP1	68170457	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.634000	0.54302	2.775000	0.95449	0.650000	0.86243	GAT		PASS	0.328	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		31	67	31	67	---	---	---	---
SLC7A13	157724	broad.mit.edu	37	8	87242189	87242189	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:87242189C>A	ENST00000297524.3	-	1	421	c.318G>T	c.(316-318)ggG>ggT	p.G106G	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.G106G	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	106						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)	p.G106G(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						CAGCAACTACCCCTGACCCCA	0.493																																						uc003ydq.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(316-318)GGG>GGT		solute carrier family 7, (cationic amino acid							63.0	61.0	62.0					8																	87242189		2203	4300	6503	SO:0001819	synonymous_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87242189C>A	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.318G>T	8.37:g.87242189C>A						SLC7A13_uc003ydr.1_Silent_p.G106G	p.G106G	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			1	416	-			106			Helical; Name=3; (Potential).		Q05C37|Q08AH9|Q96N84	Silent	SNP	ENST00000297524.3	37	c.318G>T	CCDS34917.1																																																																																				PASS	0.493	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817		16	43	16	43	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100871568	100871568	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:100871568C>G	ENST00000358544.2	+	57	11090	c.10979C>G	c.(10978-10980)cCt>cGt	p.P3660R	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P3635R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3660					protein transport (GO:0015031)			p.P3635R(1)|p.P3660R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTGGCAGCCCTGCAAGCCTG	0.567																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(10978-10980)CCT>CGT		vacuolar protein sorting 13B isoform 5							84.0	81.0	82.0					8																	100871568		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100871568C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.10979C>G	8.37:g.100871568C>G	ENSP00000351346:p.Pro3660Arg					VPS13B_uc003yiw.2_Missense_Mutation_p.P3635R	p.P3660R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		57	11090	+	Breast(36;3.73e-07)		3660					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.10979C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.453551	0.63290	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	D;D	0.87256	-2.22;-2.23	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.94581	0.8254	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94514	0.7721	10	0.87932	D	0	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	3635;3660	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	R	3635;3660	ENSP00000349685:P3635R;ENSP00000351346:P3660R	ENSP00000349685:P3635R	P	+	2	0	VPS13B	100940744	1.000000	0.71417	0.969000	0.41365	0.189000	0.23516	7.487000	0.81328	2.814000	0.96858	0.563000	0.77884	CCT		PASS	0.567	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		29	56	29	56	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	101074868	101074868	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:101074868G>T	ENST00000360863.6	-	9	1659	c.1465C>A	c.(1465-1467)Cat>Aat	p.H489N	RGS22_ENST00000523287.1_Missense_Mutation_p.H308N|RGS22_ENST00000523437.1_Missense_Mutation_p.H477N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	489					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.H489N(2)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTTCTTAAATGCTCTTCATTC	0.318																																						uc003yjb.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(1465-1467)CAT>AAT		regulator of G-protein signaling 22							94.0	86.0	89.0					8																	101074868		1808	4065	5873	SO:0001583	missense	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101074868G>T	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1465C>A	8.37:g.101074868G>T	ENSP00000354109:p.His489Asn					RGS22_uc003yja.1_Missense_Mutation_p.H308N|RGS22_uc003yjc.1_Missense_Mutation_p.H477N|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.H489N	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		9	1660	-			489					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Missense_Mutation	SNP	ENST00000360863.6	37	c.1465C>A	CCDS43758.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.259906	0.59321	.	.	ENSG00000132554	ENST00000360863;ENST00000427793;ENST00000523287;ENST00000523437	T;T;T	0.62788	-0.0;-0.0;-0.0	5.26	5.26	0.73747	Regulator of G protein signalling superfamily (1);	0.201463	0.40640	N	0.001058	T	0.67059	0.2853	M	0.69823	2.125	0.30742	N	0.746049	B;B;P	0.45474	0.355;0.355;0.859	B;B;P	0.46253	0.158;0.158;0.509	T	0.71652	-0.4528	10	0.44086	T	0.13	.	14.9027	0.70692	0.0:0.0:0.8561:0.1439	.	477;489;308	A8K944;Q8NE09;G3V112	.;RGS22_HUMAN;.	N	489;477;308;477	ENSP00000354109:H489N;ENSP00000429382:H308N;ENSP00000428212:H477N	ENSP00000354109:H489N	H	-	1	0	RGS22	101144044	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	5.143000	0.64826	2.595000	0.87683	0.650000	0.86243	CAT		PASS	0.318	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		28	65	28	65	---	---	---	---
DCSTAMP	81501	broad.mit.edu	37	8	105361464	105361464	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:105361464C>A	ENST00000297581.2	+	2	733	c.684C>A	c.(682-684)ggC>ggA	p.G228G	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Silent_p.G228G	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	228					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.G228G(1)									TTGGCACTGGCCTCTTCATGA	0.493																																						uc003ylx.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|large_intestine(1)|ovary(1)	4						c.(682-684)GGC>GGA		dendritic cell-specific transmembrane protein							101.0	93.0	96.0					8																	105361464		2203	4300	6503	SO:0001819	synonymous_variant	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105361464C>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.684C>A	8.37:g.105361464C>A							p.G228G	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		2	733	+			228			Helical; (Potential).		B7ZVW2|E7ESG0|Q2M2D5	Silent	SNP	ENST00000297581.2	37	c.684C>A	CCDS6301.1																																																																																				PASS	0.493	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		56	96	56	96	---	---	---	---
ANGPT1	284	broad.mit.edu	37	8	108264188	108264188	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:108264188C>A	ENST00000520734.1	-	8	1077	c.792G>T	c.(790-792)gcG>gcT	p.A264A	AP000428.1_ENST00000390706.1_RNA|ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.A263A			Q15389	ANGP1_HUMAN	angiopoietin 1	464					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.A464A(1)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGTTTTGTCCCGCAGTATAGA	0.408																																						uc003ymn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7						c.(1390-1392)GCG>GCT		angiopoietin 1 precursor							195.0	184.0	188.0					8																	108264188		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108264188C>A	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.792G>T	8.37:g.108264188C>A						ANGPT1_uc011lhv.1_Silent_p.A264A|ANGPT1_uc003ymo.2_Silent_p.A463A	p.A464A	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		9	1860	-	Breast(1;5.06e-08)		464			Fibrinogen C-terminal.		Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.1392G>T																																																																																					PASS	0.408	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		57	149	57	149	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113318247	113318247	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:113318247G>T	ENST00000297405.5	-	51	8304	c.8060C>A	c.(8059-8061)cCt>cAt	p.P2687H	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2647H|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2617H|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2583H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2687	Sushi 15. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P2647H(1)|p.P2687H(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						AACACAGCGAGGGGTCTTGTT	0.343										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.(8059-8061)CCT>CAT		CUB and Sushi multiple domains 3 isoform 1							212.0	194.0	200.0					8																	113318247		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113318247G>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.8060C>A	8.37:g.113318247G>T	ENSP00000297405:p.Pro2687His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.P1889H|CSMD3_uc003ynt.2_Missense_Mutation_p.P2647H|CSMD3_uc011lhx.1_Missense_Mutation_p.P2583H	p.P2687H	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			51	8219	-			2687			Extracellular (Potential).|Sushi 15.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.8060C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.557689	0.86231	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.13	5.13	0.70059	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	U	0.000003	D	0.93115	0.7808	H	0.98351	4.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.987	D	0.95870	0.8890	10	0.87932	D	0	.	18.5803	0.91168	0.0:0.0:1.0:0.0	.	2583;2687;2647	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	2647;2687;1957;2583;2617	ENSP00000345799:P2647H;ENSP00000297405:P2687H;ENSP00000341558:P1957H;ENSP00000412263:P2583H;ENSP00000343124:P2617H	ENSP00000297405:P2687H	P	-	2	0	CSMD3	113387423	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.835000	0.99442	2.396000	0.81511	0.442000	0.29010	CCT		PASS	0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		49	136	49	136	---	---	---	---
ENPP2	5168	broad.mit.edu	37	8	120592360	120592360	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:120592360T>C	ENST00000075322.6	-	19	1834	c.1776A>G	c.(1774-1776)acA>acG	p.T592T	ENPP2_ENST00000427067.2_Silent_p.T588T|ENPP2_ENST00000522826.1_Silent_p.T592T|ENPP2_ENST00000522167.1_Silent_p.T227T|ENPP2_ENST00000259486.6_Silent_p.T644T|ENPP2_ENST00000518109.1_5'Flank	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	592					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.T592T(1)|p.T644T(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)			CCTTACCTTCTGTAGACCCTT	0.343																																					Melanoma(20;305 879 2501 4818 31020)	uc003yot.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|kidney(1)	7						c.(1774-1776)ACA>ACG		autotaxin isoform 2 preproprotein							310.0	317.0	315.0					8																	120592360		2203	4300	6503	SO:0001819	synonymous_variant	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.chr8:120592360T>C	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.1776A>G	8.37:g.120592360T>C						ENPP2_uc011lic.1_Silent_p.T105T|ENPP2_uc003yor.1_Silent_p.T227T|ENPP2_uc003yos.1_Silent_p.T644T|ENPP2_uc010mdd.1_Silent_p.T592T	p.T592T	NM_001040092	NP_001035181	Q13822	ENPP2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		19	1862	-	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		592					A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Silent	SNP	ENST00000075322.6	37	c.1776A>G	CCDS34936.1																																																																																				PASS	0.343	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000381390.1			167	393	167	393	---	---	---	---
FBXO32	114907	broad.mit.edu	37	8	124553144	124553144	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:124553144G>A	ENST00000517956.1	-	1	302	c.111C>T	c.(109-111)ctC>ctT	p.L37L	FBXO32_ENST00000443022.2_Silent_p.L37L	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32	37					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)		p.L37L(1)		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)			CTCACCTGCTGAGGTCGCTCA	0.687																																						uc003yqr.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|breast(2)|lung(1)	6						c.(109-111)CTC>CTT		F-box only protein 32 isoform 1							38.0	39.0	38.0					8																	124553144		2203	4300	6503	SO:0001819	synonymous_variant	114907							g.chr8:124553144G>A	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.111C>T	8.37:g.124553144G>A						FBXO32_uc010mdk.2_Silent_p.L37L	p.L37L	NM_058229	NP_478136	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	303	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		37					A4KYM0	Silent	SNP	ENST00000517956.1	37	c.111C>T	CCDS6345.1																																																																																				PASS	0.687	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1			11	20	11	20	---	---	---	---
TATDN1	83940	broad.mit.edu	37	8	125531058	125531058	+	Splice_Site	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:125531058C>A	ENST00000276692.6	-	4	240		c.e4+1		TATDN1_ENST00000605953.1_Splice_Site|TATDN1_ENST00000517678.1_Intron|TATDN1_ENST00000521546.1_Splice_Site|TATDN1_ENST00000519548.1_Splice_Site	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TATGAGGATACCATTTGTTTG	0.303																																						uc003yrd.2																			1	Unknown(1)		lung(1)		0						c.e4+1		TatD DNase domain containing 1 isoform a							68.0	71.0	70.0					8																	125531058		2202	4300	6502	SO:0001630	splice_region_variant	83940					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr8:125531058C>A	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.202+1G>T	8.37:g.125531058C>A						TATDN1_uc003yre.2_Splice_Site|TATDN1_uc010mdm.2_Splice_Site_p.G21_splice|TATDN1_uc003yrf.2_Splice_Site_p.G68_splice	p.G68_splice	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	244	-	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)							B2R5J0|Q8TD02|Q9BY40	Splice_Site	SNP	ENST00000276692.6	37	c.202_splice	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085635	0.76642	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000519232;ENST00000523888	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7783	0.96405	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TATDN1	125600239	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.033000	0.70925	2.682000	0.91365	0.643000	0.83706	.		PASS	0.303	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026	Intron	31	87	31	87	---	---	---	---
TATDN1	83940	broad.mit.edu	37	8	125531107	125531107	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:125531107C>A	ENST00000276692.6	-	4	191	c.154G>T	c.(154-156)Gga>Tga	p.G52*	TATDN1_ENST00000605953.1_Nonsense_Mutation_p.G52*|TATDN1_ENST00000517678.1_Intron|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Nonsense_Mutation_p.G5*	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	52					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.G52*(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGTAGATTTCCACCTGTAATC	0.313																																						uc003yrd.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(154-156)GGA>TGA		TatD DNase domain containing 1 isoform a							65.0	68.0	67.0					8																	125531107		2203	4300	6503	SO:0001587	stop_gained	83940					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr8:125531107C>A	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.154G>T	8.37:g.125531107C>A	ENSP00000276692:p.Gly52*					TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Nonsense_Mutation_p.G5*|TATDN1_uc003yrf.2_Nonsense_Mutation_p.G52*	p.G52*	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		4	196	-	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		52					B2R5J0|Q8TD02|Q9BY40	Nonsense_Mutation	SNP	ENST00000276692.6	37	c.154G>T	CCDS6351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.398754|5.398754	0.96030|0.96030	.|.	.|.	ENSG00000147687|ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810;ENST00000523888|ENST00000519232	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.053757|.	0.64402|.	D|.	0.000001|.	.|T	.|0.75087	.|0.3802	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73496	.|-0.3964	.|4	0.72032|.	D|.	0.01|.	-20.0157|-20.0157	19.25|19.25	0.93921|0.93921	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	52;5;52;5|81	.|.	ENSP00000276692:G52X|.	G|W	-|-	1|2	0|0	TATDN1|TATDN1	125600288|125600288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	6.228000|6.228000	0.72288|0.72288	2.565000|2.565000	0.86533|0.86533	0.643000|0.643000	0.83706|0.83706	GGA|TGG		PASS	0.313	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		34	80	34	80	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131859754	131859754	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:131859754C>T	ENST00000286355.5	-	11	4510	c.2418G>A	c.(2416-2418)tgG>tgA	p.W806*	ADCY8_ENST00000377928.3_Intron	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	806					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.W806*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CAAAATCACACCACAGCTGCG	0.388										HNSCC(32;0.087)																												uc003ytd.3																			1	Substitution - Nonsense(1)		lung(1)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2416-2418)TGG>TGA		adenylate cyclase 8							54.0	54.0	54.0					8																	131859754		2203	4300	6503	SO:0001587	stop_gained	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131859754C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2418G>A	8.37:g.131859754C>T	ENSP00000286355:p.Trp806*	HNSCC(32;0.087)				ADCY8_uc010mds.2_Intron	p.W806*	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		11	2674	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		806			Helical; (Potential).			Nonsense_Mutation	SNP	ENST00000286355.5	37	c.2418G>A	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	55	23.657987	0.99956	.	.	ENSG00000155897	ENST00000286355	.	.	.	6.06	6.06	0.98353	.	0.061993	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	19.609	0.95594	0.0:1.0:0.0:0.0	.	.	.	.	X	806	.	ENSP00000286355:W806X	W	-	3	0	ADCY8	131928936	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.921000	0.75805	2.882000	0.98803	0.655000	0.94253	TGG		PASS	0.388	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			10	27	10	27	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139323161	139323161	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:139323161T>C	ENST00000395297.1	-	3	250	c.80A>G	c.(79-81)tAt>tGt	p.Y27C		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	27								p.Y27C(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCTGGTAATACCTAAGAAA	0.468										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(79-81)TAT>TGT		hypothetical protein LOC51059							71.0	68.0	69.0					8																	139323161		1919	4125	6044	SO:0001583	missense	51059							g.chr8:139323161T>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.80A>G	8.37:g.139323161T>C	ENSP00000378710:p.Tyr27Cys	HNSCC(54;0.14)				FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA	p.Y27C	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		3	251	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		27					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.80A>G	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	T	18.31	3.595430	0.66219	.	.	ENSG00000147724	ENST00000395297;ENST00000160713;ENST00000520380	T	0.16457	2.34	5.01	5.01	0.66863	.	0.112447	0.37809	U	0.001935	T	0.37265	0.0997	M	0.61703	1.905	0.35576	D	0.805879	D	0.89917	1.0	D	0.85130	0.997	T	0.49466	-0.8937	10	0.87932	D	0	-8.3115	11.2731	0.49150	0.0:0.0:0.0:1.0	.	27	Q49AJ0	F135B_HUMAN	C	27	ENSP00000378710:Y27C	ENSP00000160713:Y27C	Y	-	2	0	FAM135B	139392343	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.796000	0.55507	2.236000	0.73375	0.482000	0.46254	TAT		PASS	0.468	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		35	67	35	67	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139614404	139614404	+	Splice_Site	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:139614404T>A	ENST00000303045.6	-	60	4587		c.e60-2		COL22A1_ENST00000341807.4_Splice_Site|COL22A1_ENST00000435777.1_Splice_Site	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1						extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.?(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGGGACCCCCTGCAAGGAGAA	0.572										HNSCC(7;0.00092)																												uc003yvd.2																			1	Unknown(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.e60-1		collagen, type XXII, alpha 1							105.0	88.0	93.0					8																	139614404		2203	4300	6503	SO:0001630	splice_region_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139614404T>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4141-2A>T	8.37:g.139614404T>A		HNSCC(7;0.00092)				COL22A1_uc011ljo.1_Splice_Site_p.G661_splice	p.G1381_splice	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		60	4588	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)							B7ZMH0|C9K0G4|Q8IVT9	Splice_Site	SNP	ENST00000303045.6	37	c.4141_splice	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.118903	0.56505	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3164	0.74081	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL22A1	139683586	1.000000	0.71417	1.000000	0.80357	0.415000	0.31203	6.619000	0.74219	2.261000	0.74972	0.460000	0.39030	.		PASS	0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Intron	22	58	22	58	---	---	---	---
RHPN1	114822	broad.mit.edu	37	8	144463991	144463991	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:144463991G>C	ENST00000289013.6	+	14	1751	c.1650G>C	c.(1648-1650)aaG>aaC	p.K550N		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	575	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)	p.K550N(2)		endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTGGCCTGAAGGAGGGCGACT	0.677																																						uc003yyb.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1648-1650)AAG>AAC		rhophilin 1							31.0	42.0	38.0					8																	144463991		2104	4212	6316	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144463991G>C	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1650G>C	8.37:g.144463991G>C	ENSP00000289013:p.Lys550Asn						p.K550N	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		14	1783	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		575			PDZ.		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.1650G>C	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.738989	0.49045	.	.	ENSG00000158106	ENST00000289013	T	0.29917	1.55	4.87	3.98	0.46160	.	0.269957	0.32769	N	0.005665	T	0.49643	0.1569	M	0.86805	2.84	0.40889	D	0.984057	D	0.54772	0.968	P	0.51999	0.687	T	0.62426	-0.6857	10	0.87932	D	0	-26.5967	12.5003	0.55952	0.0834:0.0:0.9166:0.0	.	550	Q8TCX5-2	.	N	550	ENSP00000289013:K550N	ENSP00000289013:K550N	K	+	3	2	RHPN1	144535134	1.000000	0.71417	0.997000	0.53966	0.123000	0.20343	1.606000	0.36826	2.232000	0.73038	0.462000	0.41574	AAG		PASS	0.677	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1			6	18	6	18	---	---	---	---
CPSF1	29894	broad.mit.edu	37	8	145623947	145623947	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:145623947A>T	ENST00000349769.3	-	18	1814	c.1720T>A	c.(1720-1722)Ttc>Atc	p.F574I	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	574					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.F574I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGAATCAGGAATCCGTGTCTG	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1720-1722)TTC>ATC		cleavage and polyadenylation specific factor 1,							101.0	104.0	103.0					8																	145623947		2203	4300	6503	SO:0001583	missense	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145623947A>T	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1720T>A	8.37:g.145623947A>T	ENSP00000339353:p.Phe574Ile						p.F574I	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		18	1795	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		574					Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	c.1720T>A	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.893961	0.91889	.	.	ENSG00000071894	ENST00000349769	T	0.44881	0.91	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.59018	0.2163	M	0.71036	2.16	0.80722	D	1	D	0.56035	0.974	P	0.57620	0.824	T	0.63475	-0.6629	10	0.87932	D	0	-9.9437	14.146	0.65351	1.0:0.0:0.0:0.0	.	574	Q10570	CPSF1_HUMAN	I	574	ENSP00000339353:F574I	ENSP00000339353:F574I	F	-	1	0	CPSF1	145594755	1.000000	0.71417	0.922000	0.36590	0.382000	0.30200	6.501000	0.73691	2.227000	0.72691	0.533000	0.62120	TTC		PASS	0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		9	222	9	222	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	396932	396932	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:396932A>G	ENST00000453981.1	+	25	3230	c.3118A>G	c.(3118-3120)Aag>Gag	p.K1040E	DOCK8_ENST00000432829.2_Missense_Mutation_p.K972E|DOCK8_ENST00000469391.1_Missense_Mutation_p.K940E|DOCK8_ENST00000382329.1_Missense_Mutation_p.K507E|DOCK8_ENST00000382331.1_Missense_Mutation_p.K342E			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1040					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K972E(1)|p.K1040E(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AAAACCACAGAAGGTAACtgt	0.313																																						uc003zgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)	6						c.(3118-3120)AAG>GAG		dedicator of cytokinesis 8							92.0	92.0	92.0					9																	396932		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:396932A>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3118A>G	9.37:g.396932A>G	ENSP00000408464:p.Lys1040Glu					DOCK8_uc010mgu.2_Missense_Mutation_p.K342E|DOCK8_uc010mgv.2_Missense_Mutation_p.K940E|DOCK8_uc010mgw.1_Missense_Mutation_p.K342E|DOCK8_uc003zgk.2_Missense_Mutation_p.K498E	p.K1040E	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	25	3230	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1040					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3118A>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	24.1	4.492730	0.84962	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.45397	0.1340	L	0.41236	1.265	0.58432	D	0.999997	D;D;P;D	0.89917	0.999;1.0;0.949;0.999	D;D;P;D	0.85130	0.997;0.991;0.776;0.991	T	0.19418	-1.0306	10	0.17832	T	0.49	.	15.9745	0.80049	1.0:0.0:0.0:0.0	.	342;940;507;1040	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	E	1040;1008;972;940;342;507	ENSP00000408464:K1040E;ENSP00000394888:K972E;ENSP00000419438:K940E;ENSP00000371768:K342E;ENSP00000371766:K507E	ENSP00000287364:K1008E	K	+	1	0	DOCK8	386932	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.373000	0.79623	2.168000	0.68352	0.533000	0.62120	AAG		PASS	0.313	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		89	31	89	31	---	---	---	---
RCL1	10171	broad.mit.edu	37	9	4844532	4844532	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:4844532G>T	ENST00000381750.4	+	7	941	c.718G>T	c.(718-720)Ggc>Tgc	p.G240C	RCL1_ENST00000381730.1_Missense_Mutation_p.G54C|RCL1_ENST00000448872.2_Missense_Mutation_p.G54C|RCL1_ENST00000381728.1_Missense_Mutation_p.G54C	NM_005772.3	NP_005763.3	Q9Y2P8	RCL1_HUMAN	RNA terminal phosphate cyclase-like 1	240					ribosome biogenesis (GO:0042254)|RNA processing (GO:0006396)	nucleolus (GO:0005730)	catalytic activity (GO:0003824)	p.G240C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0244)		CAGGTCTCCGGGCTTTGGGTT	0.517																																						uc003zis.2																			1	Substitution - Missense(1)		lung(1)		0						c.(718-720)GGC>TGC		RNA terminal phosphate cyclase-like 1							102.0	106.0	105.0					9																	4844532		2203	4300	6503	SO:0001583	missense	10171				ribosome biogenesis|RNA processing	nucleolus	RNA-3'-phosphate cyclase activity	g.chr9:4844532G>T	AJ276894	CCDS6456.1, CCDS69565.1, CCDS75810.1	9p24.1-p23	2008-02-05			ENSG00000120158	ENSG00000120158			17687	protein-coding gene	gene with protein product		611405					Standard	NM_001286701		Approved	RPCL1, RNAC	uc003zis.2	Q9Y2P8	OTTHUMG00000019474	ENST00000381750.4:c.718G>T	9.37:g.4844532G>T	ENSP00000371169:p.Gly240Cys					RCL1_uc003zit.2_Missense_Mutation_p.G82C|RCL1_uc010mhk.1_Missense_Mutation_p.G82C|RCL1_uc010mhl.1_Missense_Mutation_p.G54C	p.G240C	NM_005772	NP_005763	Q9Y2P8	RCL1_HUMAN		GBM - Glioblastoma multiforme(50;0.0244)	7	976	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0206)|Breast(48;0.147)	240					D3DRI2|Q5VYW9|Q5VZU1|Q9H9D0|Q9NY00|Q9P044	Missense_Mutation	SNP	ENST00000381750.4	37	c.718G>T	CCDS6456.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926898	0.92319	.	.	ENSG00000120158	ENST00000381750;ENST00000442869;ENST00000381730;ENST00000381728;ENST00000448872;ENST00000441844	.	.	.	6.17	6.17	0.99709	-terminal phosphate cyclase, insert domain (1);-terminal phosphate cyclase-like, eukaryotic (2);-terminal phosphate cyclase domain (1);RNA 3&apos (6);-terminal phosphate cyclase/enolpyruvate transferase, alpha/beta (1);-terminal phosphate cyclase (1);	0.098623	0.64402	D	0.000001	D	0.89584	0.6757	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.984	D	0.90723	0.4636	9	0.66056	D	0.02	-21.3101	20.8794	0.99867	0.0:0.0:1.0:0.0	.	54;240	Q5VZU1;Q9Y2P8	.;RCL1_HUMAN	C	240;82;54;54;54;54	.	ENSP00000371147:G54C	G	+	1	0	RCL1	4834532	1.000000	0.71417	0.984000	0.44739	0.889000	0.51656	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGC		PASS	0.517	RCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051587.1	NM_005772		173	47	173	47	---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19316473	19316473	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:19316473C>T	ENST00000380432.2	+	7	871	c.838C>T	c.(838-840)Cta>Tta	p.L280L	DENND4C_ENST00000602925.1_Silent_p.L516L|DENND4C_ENST00000434457.2_Silent_p.L516L			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	280					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.L280L(1)		breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGCAAAAATCTACTTAGCAC	0.323																																						uc003znq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(838-840)CTA>TTA		DENN/MADD domain containing 4C							74.0	76.0	76.0					9																	19316473		2203	4300	6503	SO:0001819	synonymous_variant	55667					integral to membrane		g.chr9:19316473C>T	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.838C>T	9.37:g.19316473C>T						DENND4C_uc011lnc.1_5'UTR	p.L280L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			7	871	+			280					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	37	c.838C>T																																																																																					PASS	0.323	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		12	79	12	79	---	---	---	---
FANCG	2189	broad.mit.edu	37	9	35076575	35076575	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:35076575C>G	ENST00000378643.3	-	8	1421	c.930G>C	c.(928-930)ttG>ttC	p.L310F	FANCG_ENST00000476212.1_5'Flank	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	310					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.L310F(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGGGACATTCAAGGCCTAAA	0.443			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														uc003zwb.1			yes	Rec		Fanconi anaemia G	9	9p13	2189	Mis|N|F|S	"""Fanconi anemia, complementation group G"""			L		AML|leukemia			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|lung(1)	4						c.(928-930)TTG>TTC	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group G							83.0	79.0	80.0					9																	35076575		2203	4300	6503	SO:0001583	missense	2189	Fanconi_Anemia			cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35076575C>G	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.930G>C	9.37:g.35076575C>G	ENSP00000367910:p.Leu310Phe					FANCG_uc003zwa.1_Missense_Mutation_p.L52F|FANCG_uc010mkj.1_Missense_Mutation_p.L52F|FANCG_uc011lot.1_Missense_Mutation_p.L310F	p.L310F	NM_004629	NP_004620	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		8	1422	-			310						Missense_Mutation	SNP	ENST00000378643.3	37	c.930G>C	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	9.190	1.025752	0.19512	.	.	ENSG00000221829	ENST00000378643;ENST00000543657	T	0.37752	1.18	5.32	3.47	0.39725	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.56352	0.1979	M	0.69823	2.125	0.35955	D	0.834212	D	0.89917	1.0	D	0.83275	0.996	T	0.64846	-0.6311	9	0.72032	D	0.01	-8.1141	10.6448	0.45613	0.0:0.8321:0.0:0.1679	.	310	O15287	FANCG_HUMAN	F	310	ENSP00000367910:L310F	ENSP00000367910:L310F	L	-	3	2	FANCG	35066575	0.999000	0.42202	0.964000	0.40570	0.023000	0.10783	1.236000	0.32683	0.397000	0.25310	-1.119000	0.02030	TTG		PASS	0.443	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		14	114	14	114	---	---	---	---
RECK	8434	broad.mit.edu	37	9	36087893	36087893	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:36087893T>C	ENST00000377966.3	+	9	1406	c.840T>C	c.(838-840)ccT>ccC	p.P280P		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	280	5 X Knot repeats.				blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P280P(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TACACCCTCCTCCCTCTACAG	0.443																																						uc003zyv.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(838-840)CCT>CCC		RECK protein precursor							128.0	118.0	122.0					9																	36087893		2203	4300	6503	SO:0001819	synonymous_variant	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36087893T>C	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.840T>C	9.37:g.36087893T>C						RECK_uc003zyw.2_Silent_p.P152P|RECK_uc003zyx.2_RNA	p.P280P	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		9	926	+			280			5 X Knot repeats.		B2RNS1|Q5W0K6|Q8WX37	Silent	SNP	ENST00000377966.3	37	c.840T>C	CCDS6597.1																																																																																				PASS	0.443	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			57	46	57	46	---	---	---	---
MELK	9833	broad.mit.edu	37	9	36665428	36665428	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:36665428T>C	ENST00000298048.2	+	14	1442	c.1258T>C	c.(1258-1260)Tta>Cta	p.L420L	MELK_ENST00000536987.1_Silent_p.L289L|MELK_ENST00000545008.1_Silent_p.L349L|MELK_ENST00000543751.1_Silent_p.L388L|MELK_ENST00000538311.1_Silent_p.L226L|MELK_ENST00000536860.1_Silent_p.L372L|MELK_ENST00000536329.1_Silent_p.L349L|MELK_ENST00000541717.1_Silent_p.L379L	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	420	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)	p.L420L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TGCAAATAAATTAAAGAACAA	0.348																																					Ovarian(82;980 1317 7225 14391 18624)	uc003zzn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(1258-1260)TTA>CTA		maternal embryonic leucine zipper kinase							75.0	78.0	77.0					9																	36665428		2203	4299	6502	SO:0001819	synonymous_variant	9833					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:36665428T>C	D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1258T>C	9.37:g.36665428T>C						MELK_uc011lpm.1_Silent_p.L289L|MELK_uc011lpn.1_Silent_p.L379L|MELK_uc011lpo.1_Silent_p.L226L|MELK_uc010mll.2_Silent_p.L388L|MELK_uc011lpp.1_Silent_p.L372L|MELK_uc010mlm.2_Silent_p.L349L|MELK_uc011lpq.1_Silent_p.L226L|MELK_uc011lpr.1_Silent_p.L349L|MELK_uc011lps.1_Silent_p.L340L	p.L420L	NM_014791	NP_055606	Q14680	MELK_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		14	1396	+		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	420					A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Silent	SNP	ENST00000298048.2	37	c.1258T>C	CCDS6606.1																																																																																				PASS	0.348	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791		32	97	32	97	---	---	---	---
ANKRD20A1	84210	broad.mit.edu	37	9	67951985	67951985	+	Silent	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:67951985A>G	ENST00000377477.2	+	9	1060	c.948A>G	c.(946-948)aaA>aaG	p.K316K		NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	316						plasma membrane (GO:0005886)		p.K316K(1)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						CGCATGAAAAAGGAAACAGAA	0.413																																						uc004aeu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(946-948)AAA>AAG		ankyrin repeat domain 20 family, member A3							147.0	143.0	144.0					9																	67951985		1351	2292	3643	SO:0001819	synonymous_variant	441425							g.chr9:67951985A>G	AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.948A>G	9.37:g.67951985A>G						ANKRD20A3_uc010mnn.2_Silent_p.K315K	p.K316K	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN			9	1060	+			316					Q9H0H6	Silent	SNP	ENST00000377477.2	37	c.948A>G	CCDS6620.1																																																																																				PASS	0.413	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			105	168	105	168	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79917921	79917921	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:79917921G>T	ENST00000360280.3	+	34	4163	c.3903G>T	c.(3901-3903)tgG>tgT	p.W1301C	VPS13A_ENST00000376634.4_Missense_Mutation_p.W1301C|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Missense_Mutation_p.W1301C|VPS13A_ENST00000376636.3_Missense_Mutation_p.W1262C	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1301					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.W1301C(3)|p.W1301F(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTTATGCTGGGAGTGGTACC	0.363																																						uc004akr.2																			6	Substitution - Missense(6)		lung(6)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(3901-3903)TGG>TGT		vacuolar protein sorting 13A isoform A							149.0	143.0	145.0					9																	79917921		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79917921G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.3903G>T	9.37:g.79917921G>T	ENSP00000353422:p.Trp1301Cys					VPS13A_uc004akp.3_Missense_Mutation_p.W1301C|VPS13A_uc004akq.3_Missense_Mutation_p.W1301C|VPS13A_uc004aks.2_Missense_Mutation_p.W1262C|VPS13A_uc010mpo.1_5'UTR	p.W1301C	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			34	4163	+			1301			TPR 5.		Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.3903G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035774	0.54896	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	5.31	4.35	0.52113	.	0.356757	0.27749	N	0.018002	T	0.21550	0.0519	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.67145	0.975;0.993;0.996;0.996	P;P;P;P	0.60682	0.796;0.758;0.878;0.878	T	0.00549	-1.1676	10	0.38643	T	0.18	.	6.4138	0.21705	0.0876:0.0:0.5671:0.3454	.	1262;1301;1301;1301	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	C	1301;1262;1301;1301	ENSP00000365821:W1301C;ENSP00000365823:W1262C;ENSP00000353422:W1301C;ENSP00000349985:W1301C	ENSP00000349985:W1301C	W	+	3	0	VPS13A	79107741	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.954000	0.40362	2.480000	0.83734	0.563000	0.77884	TGG		PASS	0.363	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		23	257	23	257	---	---	---	---
PSAT1	29968	broad.mit.edu	37	9	80919698	80919698	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:80919698G>A	ENST00000376588.3	+	4	307	c.239G>A	c.(238-240)tGc>tAc	p.C80Y	PSAT1_ENST00000347159.2_Missense_Mutation_p.C80Y	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	80	Pyridoxal phosphate binding. {ECO:0000250}.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)	p.C80Y(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						GGAGGTGGGTGCGGCCAGTTC	0.483																																					Colon(34;187 791 10662 18313 37609)	uc004ala.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(1)	1						c.(238-240)TGC>TAC		phosphoserine aminotransferase 1 isoform 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						122.0	115.0	117.0					9																	80919698		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80919698G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.239G>A	9.37:g.80919698G>A	ENSP00000365773:p.Cys80Tyr					PSAT1_uc004alb.2_Missense_Mutation_p.C80Y	p.C80Y	NM_058179	NP_478059	Q9Y617	SERC_HUMAN			4	307	+			80			Pyridoxal phosphate binding (By similarity).		Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.239G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	8.637	0.895098	0.17613	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.62498	0.02;0.02	5.52	-4.21	0.03812	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.690835	0.15246	N	0.272598	T	0.53286	0.1787	N	0.08118	0	0.09310	N	1	B;B	0.27450	0.134;0.179	B;B	0.38020	0.145;0.263	T	0.44283	-0.9338	10	0.66056	D	0.02	-19.3241	28.5012	0.99999	0.0:0.169:0.831:0.0	.	80;80	Q9Y617-2;Q9Y617	.;SERC_HUMAN	Y	80	ENSP00000317606:C80Y;ENSP00000365773:C80Y	ENSP00000317606:C80Y	C	+	2	0	PSAT1	80109518	0.996000	0.38824	0.001000	0.08648	0.234000	0.25298	1.115000	0.31209	-1.280000	0.02402	-1.149000	0.01842	TGC		PASS	0.483	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		18	215	18	215	---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85616037	85616037	+	Missense_Mutation	SNP	C	C	A	rs140659178	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:85616037C>A	ENST00000376447.3	-	10	1471	c.1211G>T	c.(1210-1212)cGc>cTc	p.R404L		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	404					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.R404L(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						ATAGGAAGAGCGGGATGACCT	0.493																																						uc004amo.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(1210-1212)CGC>CTC		RAS and EF-hand domain containing							36.0	34.0	35.0					9																	85616037		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85616037C>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.1211G>T	9.37:g.85616037C>A	ENSP00000365630:p.Arg404Leu						p.R404L	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			10	1472	-			404					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1211G>T	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652220	0.47362	.	.	ENSG00000165105	ENST00000376447	T	0.61158	0.13	5.92	3.07	0.35406	.	0.180815	0.47455	D	0.000235	T	0.48429	0.1499	L	0.51422	1.61	0.80722	D	1	P	0.41524	0.753	B	0.38225	0.268	T	0.45101	-0.9284	10	0.66056	D	0.02	.	8.8118	0.34971	0.0:0.6428:0.0:0.3572	.	404	Q8IZ41	RASEF_HUMAN	L	404	ENSP00000365630:R404L	ENSP00000365630:R404L	R	-	2	0	RASEF	84805857	0.996000	0.38824	1.000000	0.80357	0.975000	0.68041	0.237000	0.17985	0.397000	0.25310	0.585000	0.79938	CGC		PASS	0.493	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		59	34	59	34	---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100204011	100204011	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:100204011G>A	ENST00000355295.4	+	6	1004	c.709G>A	c.(709-711)Gtt>Att	p.V237I	TDRD7_ENST00000422139.2_Missense_Mutation_p.V163I	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	237	HTH OST-type 2. {ECO:0000255|PROSITE- ProRule:PRU00975}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)	p.V237I(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AATGGATGAGGTTCAAAATCG	0.289																																						uc004axj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(709-711)GTT>ATT		tudor domain containing 7							71.0	72.0	72.0					9																	100204011		2203	4300	6503	SO:0001583	missense	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100204011G>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.709G>A	9.37:g.100204011G>A	ENSP00000347444:p.Val237Ile					TDRD7_uc011lux.1_Missense_Mutation_p.V163I	p.V237I	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			6	934	+		Acute lymphoblastic leukemia(62;0.158)	237			Lotus/OST-HTH 2.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Missense_Mutation	SNP	ENST00000355295.4	37	c.709G>A	CCDS6725.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534720	0.45073	.	.	ENSG00000196116	ENST00000355295;ENST00000422139	T;T	0.14766	2.48;2.52	4.97	4.97	0.65823	.	1.541240	0.03913	N	0.282180	T	0.15435	0.0372	L	0.36672	1.1	0.80722	D	1	B	0.21753	0.06	B	0.12837	0.008	T	0.13980	-1.0489	10	0.19147	T	0.46	-19.8491	14.4582	0.67431	0.0:0.0:1.0:0.0	.	237	Q8NHU6	TDRD7_HUMAN	I	237;163	ENSP00000347444:V237I;ENSP00000413608:V163I	ENSP00000347444:V237I	V	+	1	0	TDRD7	99243832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.771000	0.38542	2.675000	0.91044	0.655000	0.94253	GTT		PASS	0.289	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290		5	120	5	120	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104499756	104499756	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:104499756G>T	ENST00000361820.3	-	1	1106	c.506C>A	c.(505-507)cCt>cAt	p.P169H		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	169					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.P169H(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGGCGAACTAGGGGAGGAGAA	0.602																																						uc004bbp.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(505-507)CCT>CAT		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						110.0	103.0	105.0					9																	104499756		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499756G>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.506C>A	9.37:g.104499756G>T	ENSP00000355155:p.Pro169His					GRIN3A_uc004bbq.1_Missense_Mutation_p.P169H	p.P169H	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			1	1107	-		Acute lymphoblastic leukemia(62;0.0568)	169			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.506C>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656150	0.67586	.	.	ENSG00000198785	ENST00000361820	T	0.11495	2.77	5.08	5.08	0.68730	.	0.481991	0.21556	N	0.072643	T	0.14485	0.0350	L	0.40543	1.245	0.40119	D	0.976571	P	0.50066	0.931	B	0.44044	0.439	T	0.02179	-1.1200	10	0.62326	D	0.03	.	18.4798	0.90807	0.0:0.0:1.0:0.0	.	169	Q8TCU5	NMD3A_HUMAN	H	169	ENSP00000355155:P169H	ENSP00000355155:P169H	P	-	2	0	GRIN3A	103539577	1.000000	0.71417	0.959000	0.39883	0.977000	0.68977	5.983000	0.70540	2.361000	0.80049	0.655000	0.94253	CCT		PASS	0.602	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			50	25	50	25	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113149732	113149732	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:113149732C>G	ENST00000401783.2	-	42	10229	c.9893G>C	c.(9892-9894)aGg>aCg	p.R3298T	SVEP1_ENST00000374469.1_Missense_Mutation_p.R3275T|SVEP1_ENST00000297826.5_Missense_Mutation_p.R1224T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3298	Sushi 32. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.R3301T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGTTTCACACCTGGTCTCTAA	0.388																																						uc010mtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)	7						c.(9892-9894)AGG>ACG		polydom							67.0	64.0	65.0					9																	113149732		1836	4091	5927	SO:0001583	missense	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113149732C>G	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9893G>C	9.37:g.113149732C>G	ENSP00000384917:p.Arg3298Thr					SVEP1_uc010mty.2_Missense_Mutation_p.R1224T	p.R3298T	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			42	10230	-			3298			Sushi 32.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	c.9893G>C	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	3.612	-0.079322	0.07141	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.22539	1.95;1.95;1.95	5.08	-0.98	0.10272	Complement control module (2);Sushi/SCR/CCP (1);	0.607159	0.18889	N	0.128371	T	0.10121	0.0248	N	0.25380	0.74	0.34560	D	0.712259	B	0.17038	0.02	B	0.16722	0.016	T	0.36138	-0.9760	10	0.09338	T	0.73	.	6.074	0.19905	0.1207:0.5292:0.0:0.3501	.	3298	Q4LDE5	SVEP1_HUMAN	T	3298;3275;1224	ENSP00000384917:R3298T;ENSP00000363593:R3275T;ENSP00000297826:R1224T	ENSP00000297826:R1224T	R	-	2	0	SVEP1	112189553	0.005000	0.15991	0.007000	0.13788	0.620000	0.37586	-0.035000	0.12205	-0.019000	0.14055	0.644000	0.83932	AGG		PASS	0.388	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				24	32	24	32	---	---	---	---
COL27A1	85301	broad.mit.edu	37	9	117069976	117069976	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:117069976G>T	ENST00000356083.3	+	59	5526	c.5135G>T	c.(5134-5136)gGc>gTc	p.G1712V		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1712	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G1712V(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCAAACCTTGGCTGCTCCTCT	0.562																																						uc011lxl.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(5134-5136)GGC>GTC		collagen, type XXVII, alpha 1 precursor							232.0	175.0	195.0					9																	117069976		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117069976G>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.5135G>T	9.37:g.117069976G>T	ENSP00000348385:p.Gly1712Val					COL27A1_uc004bii.2_RNA|COL27A1_uc011lxn.1_Missense_Mutation_p.G27V	p.G1712V	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			59	5135	+			1712			Fibrillar collagen NC1.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.5135G>T	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642855	0.47153	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.90069	-2.61	5.5	4.59	0.56863	Fibrillar collagen, C-terminal (3);	.	.	.	.	D	0.96272	0.8784	H	0.96805	3.885	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.85130	0.997;0.927	D	0.97183	0.9852	9	0.66056	D	0.02	.	14.1788	0.65559	0.0:0.1509:0.8491:0.0	.	27;1712	Q9HAA3;Q8IZC6	.;CORA1_HUMAN	V	1712;1719	ENSP00000348385:G1712V	ENSP00000348385:G1712V	G	+	2	0	COL27A1	116109797	1.000000	0.71417	0.997000	0.53966	0.381000	0.30169	9.828000	0.99408	1.312000	0.45043	0.561000	0.74099	GGC		PASS	0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		111	80	111	80	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120475243	120475243	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:120475243C>A	ENST00000355622.6	+	3	938	c.837C>A	c.(835-837)ggC>ggA	p.G279G	TLR4_ENST00000394487.4_Silent_p.G239G|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	279					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G279G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	CTCTAGAGGGCCTGTGCAATT	0.363																																						uc004bjz.2																			1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(835-837)GGC>GGA		toll-like receptor 4 precursor							90.0	96.0	94.0					9																	120475243		2203	4300	6503	SO:0001819	synonymous_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120475243C>A	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.837C>A	9.37:g.120475243C>A						TLR4_uc004bka.2_Silent_p.G239G|TLR4_uc004bkb.2_Silent_p.G79G	p.G279G	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	1128	+			279			Extracellular (Potential).		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.837C>A	CCDS6818.1																																																																																				PASS	0.363	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		156	68	156	68	---	---	---	---
OLFML2A	169611	broad.mit.edu	37	9	127563756	127563756	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:127563756G>C	ENST00000373580.3	+	5	733	c.733G>C	c.(733-735)Gac>Cac	p.D245H	OLFML2A_ENST00000288815.5_Missense_Mutation_p.D31H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	245					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.D245H(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AAGCTTTGCAGACAGAGGCCT	0.542																																						uc004bov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(733-735)GAC>CAC		olfactomedin-like 2A precursor							94.0	93.0	93.0					9																	127563756		2203	4300	6503	SO:0001583	missense	169611							g.chr9:127563756G>C	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.733G>C	9.37:g.127563756G>C	ENSP00000362682:p.Asp245His					OLFML2A_uc010mwr.1_Missense_Mutation_p.D209H|OLFML2A_uc004bow.2_Missense_Mutation_p.D31H	p.D245H	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN			5	846	+			245					Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	37	c.733G>C	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129626	0.77549	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580;ENST00000288815	T;D;D	0.89196	0.75;-2.39;-2.48	6.07	6.07	0.98685	.	0.234963	0.43919	D	0.000510	D	0.93324	0.7872	L	0.55481	1.735	0.51482	D	0.99992	D;D;D	0.89917	0.999;1.0;0.997	D;D;D	0.73380	0.965;0.98;0.922	D	0.93137	0.6538	10	0.72032	D	0.01	.	19.222	0.93801	0.0:0.0:1.0:0.0	.	209;31;245	Q5JTM7;Q68BL7-3;Q68BL7	.;.;OLM2A_HUMAN	H	209;209;245;31	ENSP00000336425:D209H;ENSP00000362682:D245H;ENSP00000288815:D31H	ENSP00000288815:D31H	D	+	1	0	OLFML2A	126603577	1.000000	0.71417	0.812000	0.32479	0.467000	0.32768	5.843000	0.69424	2.884000	0.98904	0.655000	0.94253	GAC		PASS	0.542	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487		14	174	14	174	---	---	---	---
ZNF79	7633	broad.mit.edu	37	9	130207074	130207074	+	Silent	SNP	G	G	T	rs61747648	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:130207074G>T	ENST00000342483.5	+	5	1501	c.1095G>T	c.(1093-1095)gcG>gcT	p.A365A	RPL12_ENST00000497322.1_5'Flank|ZNF79_ENST00000543471.1_Silent_p.A341A	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	365					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.A365A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GATGTGCCGCGTGTGGGAAGG	0.567																																						uc004bqw.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1093-1095)GCG>GCT		zinc finger protein 79							79.0	78.0	79.0					9																	130207074		2203	4300	6503	SO:0001819	synonymous_variant	7633				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:130207074G>T	X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	ENST00000342483.5:c.1095G>T	9.37:g.130207074G>T						ZNF79_uc011maf.1_Silent_p.A341A|ZNF79_uc011mag.1_Silent_p.A341A	p.A365A	NM_007135	NP_009066	Q15937	ZNF79_HUMAN			5	1509	+			365			C2H2-type 7.		Q5VVW1|Q96NV1	Silent	SNP	ENST00000342483.5	37	c.1095G>T	CCDS6871.1																																																																																				PASS	0.567	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1	NM_007135		79	79	79	79	---	---	---	---
SH2D3C	10044	broad.mit.edu	37	9	130536708	130536708	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:130536708G>T	ENST00000314830.8	-	2	189	c.76C>A	c.(76-78)Ctc>Atc	p.L26I	SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000373277.4_5'Flank	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	26					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)	p.L26I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACCGAGGGAGGTTGGAGAGA	0.488																																						uc004bsc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(76-78)CTC>ATC		SH2 domain containing 3C isoform a							58.0	54.0	56.0					9																	130536708		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130536708G>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.76C>A	9.37:g.130536708G>T	ENSP00000317817:p.Leu26Ile					SH2D3C_uc004bsd.1_5'UTR	p.L26I	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			2	218	-			26					A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.76C>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	G	9.909	1.209044	0.22205	.	.	ENSG00000095370	ENST00000314830	T	0.16324	2.35	5.03	3.14	0.36123	.	0.291906	0.24438	N	0.038522	T	0.15435	0.0372	L	0.45137	1.4	0.80722	D	1	B	0.15473	0.013	B	0.15484	0.013	T	0.03750	-1.1007	10	0.45353	T	0.12	-16.0477	11.3345	0.49496	0.0:0.0:0.5232:0.4768	.	26	Q8N5H7	SH2D3_HUMAN	I	26	ENSP00000317817:L26I	ENSP00000317817:L26I	L	-	1	0	SH2D3C	129576529	1.000000	0.71417	0.461000	0.27105	0.959000	0.62525	1.533000	0.36040	0.608000	0.30000	-0.268000	0.10319	CTC		PASS	0.488	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		8	72	8	72	---	---	---	---
NTNG2	84628	broad.mit.edu	37	9	135114558	135114558	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:135114558C>T	ENST00000393229.3	+	6	1898	c.1122C>T	c.(1120-1122)gtC>gtT	p.V374V	NTNG2_ENST00000393228.4_Silent_p.V366V|NTNG2_ENST00000360670.3_Silent_p.V380V	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	374	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)		p.V374V(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGACCTGCGTCAGCTGCAAGC	0.582																																						uc004cbh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1120-1122)GTC>GTT		netrin G2 precursor							95.0	75.0	81.0					9																	135114558		2203	4300	6503	SO:0001819	synonymous_variant	84628				axonogenesis	anchored to plasma membrane		g.chr9:135114558C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1122C>T	9.37:g.135114558C>T							p.V374V	NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	6	1898	+			374			Laminin EGF-like 2.		Q5JUJ2|Q6UXY0|Q96JH0	Silent	SNP	ENST00000393229.3	37	c.1122C>T	CCDS6946.1																																																																																				PASS	0.582	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		97	56	97	56	---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135862758	135862758	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:135862758C>A	ENST00000339463.3	+	7	1009	c.190C>A	c.(190-192)Ccg>Acg	p.P64T	GFI1B_ENST00000372122.1_Missense_Mutation_p.P64T|GFI1B_ENST00000450530.1_Missense_Mutation_p.P64T|GFI1B_ENST00000372124.1_Missense_Mutation_p.P64T|GFI1B_ENST00000534944.1_Missense_Mutation_p.P64T|GFI1B_ENST00000372123.1_Missense_Mutation_p.P64T			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	64					cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.P64T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CAAACGAGAGCCGGAGCTGGA	0.617																																						uc004ccg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(190-192)CCG>ACG		growth factor independent 1B transcription							85.0	74.0	78.0					9																	135862758		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135862758C>A	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.190C>A	9.37:g.135862758C>A	ENSP00000344782:p.Pro64Thr					GFI1B_uc010mzy.2_Missense_Mutation_p.P64T	p.P64T	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	3	341	+			64					O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.190C>A	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	1.462	-0.562180	0.03939	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.08984	3.19;3.03;3.03;3.19;3.19;3.03	3.62	0.704	0.18121	.	0.839792	0.10660	N	0.648857	T	0.05181	0.0138	N	0.24115	0.695	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.11329	0.006;0.001	T	0.42327	-0.9458	10	0.33940	T	0.23	-7.0289	3.8613	0.08998	0.0:0.5688:0.2013:0.2299	.	64;64	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	T	64	ENSP00000361197:P64T;ENSP00000344782:P64T;ENSP00000409546:P64T;ENSP00000446134:P64T;ENSP00000361196:P64T;ENSP00000361195:P64T	ENSP00000344782:P64T	P	+	1	0	GFI1B	134852579	0.008000	0.16893	0.002000	0.10522	0.002000	0.02628	-0.054000	0.11826	0.145000	0.18977	-0.136000	0.14681	CCG		PASS	0.617	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		15	94	15	94	---	---	---	---
C9orf116	138162	broad.mit.edu	37	9	138387325	138387325	+	Missense_Mutation	SNP	C	C	T	rs183842572		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:138387325C>T	ENST00000429260.2	-	3	379	c.359G>A	c.(358-360)cGg>cAg	p.R120Q	C9orf116_ENST00000371791.1_3'UTR|C9orf116_ENST00000371789.3_3'UTR	NM_001048265.1|NM_144654.2	NP_001041730.1|NP_653255.1	Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	120								p.R120Q(1)							OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GAAGTTGAGCCGGTCACAGGA	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		16368	0.001		0.0	False		,,,				2504	0.0					uc004cft.1																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CGG>CAG		hypothetical protein LOC138162 isoform 1							209.0	180.0	190.0					9																	138387325		2203	4300	6503	SO:0001583	missense	138162							g.chr9:138387325C>T	BC021261	CCDS6989.1, CCDS43899.1	9q34.3	2012-04-02			ENSG00000160345	ENSG00000160345			28435	protein-coding gene	gene with protein product	"""p53-induced expression 1 in Rb&#8722;/&#8722; cells"""	614502				12477932	Standard	NM_144654		Approved	MGC29761, RbEST47, PIERCE1	uc004cft.1	Q5BN46	OTTHUMG00000020902	ENST00000429260.2:c.359G>A	9.37:g.138387325C>T	ENSP00000395281:p.Arg120Gln					C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_RNA	p.R120Q	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)	3	423	-			120					Q5T897|Q8WU44	Missense_Mutation	SNP	ENST00000429260.2	37	c.359G>A	CCDS43899.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.39	3.109590	0.56398	.	.	ENSG00000160345	ENST00000429260	.	.	.	5.03	-0.175	0.13315	.	5.059890	0.00531	N	0.000219	T	0.44912	0.1316	M	0.61703	1.905	0.18873	N	0.999986	B	0.27498	0.18	B	0.18871	0.023	T	0.21655	-1.0239	9	0.52906	T	0.07	-1.8454	5.9913	0.19465	0.0:0.2994:0.395:0.3056	.	120	Q5BN46	CI116_HUMAN	Q	120	.	ENSP00000395281:R120Q	R	-	2	0	C9orf116	137527146	0.002000	0.14202	0.056000	0.19401	0.815000	0.46073	-0.238000	0.08977	-0.343000	0.08351	-0.219000	0.12488	CGG		PASS	0.547	C9orf116-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054985.2	NM_144654		10	189	10	189	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139401756	139401757	+	Splice_Site	DNP	CC	CC	AA			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:139401756_139401757CC>AA	ENST00000277541.6	-	22	3718_3719	c.3643_3644GG>TT	c.(3643-3645)GGt>TTt	p.G1215F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1215	EGF-like 31; calcium-binding. {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.?(4)|p.G1215C(1)|p.G1216C(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)		GCGGCCCTTACCCTGAGTGCCC	0.688			"""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		6	Unknown(4)|Substitution - Missense(2)		lung(6)	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.e22+1|c.(3643-3645)GGT>TGT		notch1 preproprotein																																				SO:0001630	splice_region_variant	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.chr9:139401756C>A|g.chr9:139401757C>A	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.3643_3644delinsAA	9.37:g.139401756_139401757delinsAA		HNSCC(8;0.001)				NOTCH1_uc004cia.1_Splice_Site_p.G445_splice|NOTCH1_uc004cia.1_Missense_Mutation_p.G445C	p.G1215_splice|p.G1215C	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	22	3643	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	|1215			|Extracellular (Potential).|EGF-like 31; calcium-binding (Potential).		Q59ED8|Q5SXM3	Splice_Site|Missense_Mutation	SNP	ENST00000277541.6	37	c.3643_splice|c.3643G>T	CCDS43905.1																																																																																				PASS	0.688	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Missense_Mutation	44	31	44	31	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7409832	7409832	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr10:7409832C>A	ENST00000361972.4	-	4	305	c.215G>T	c.(214-216)aGc>aTc	p.S72I	SFMBT2_ENST00000397160.3_Missense_Mutation_p.S72I|SFMBT2_ENST00000379711.2_Missense_Mutation_p.S72I|SFMBT2_ENST00000397167.1_Missense_Mutation_p.S72I|SFMBT2_ENST00000379713.3_Missense_Mutation_p.S72I	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	72					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.S72I(1)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGAAGTTGCTCTGAATGCT	0.433																																						uc009xio.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(214-216)AGC>ATC		Scm-like with four mbt domains 2							64.0	63.0	63.0					10																	7409832		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7409832C>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.215G>T	10.37:g.7409832C>A	ENSP00000355109:p.Ser72Ile					SFMBT2_uc001ijn.1_Missense_Mutation_p.S72I|SFMBT2_uc010qay.1_Missense_Mutation_p.S72I|SFMBT2_uc001ijo.1_Missense_Mutation_p.S72I	p.S72I	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			4	306	-			72			MBT 1.		A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.215G>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926981	0.73327	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.44083	0.93;0.93;0.93;1.41;1.41	5.17	5.17	0.71159	.	0.080627	0.85682	D	0.000000	T	0.62672	0.2447	M	0.75264	2.295	0.58432	D	0.999997	D;D	0.76494	0.996;0.999	D;D	0.79784	0.923;0.993	T	0.65713	-0.6101	10	0.72032	D	0.01	.	12.0832	0.53682	0.0:0.9196:0.0:0.0804	.	72;72	Q5T981;Q5VUG0	.;SMBT2_HUMAN	I	72	ENSP00000355109:S72I;ENSP00000380353:S72I;ENSP00000369035:S72I;ENSP00000369033:S72I;ENSP00000380346:S72I	ENSP00000355109:S72I	S	-	2	0	SFMBT2	7449838	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.872000	0.63050	2.567000	0.86603	0.484000	0.47621	AGC		PASS	0.433	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		18	24	18	24	---	---	---	---
VIM	7431	broad.mit.edu	37	10	17275867	17275867	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr10:17275867T>A	ENST00000224237.5	+	4	964	c.819T>A	c.(817-819)cgT>cgA	p.R273R	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.R273R			P08670	VIME_HUMAN	vimentin	273	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.R273R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGACGTACGTCAGCAATATG	0.498																																						uc001iou.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(817-819)CGT>CGA		vimentin							60.0	52.0	55.0					10																	17275867		2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17275867T>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.819T>A	10.37:g.17275867T>A						VIM_uc001iov.1_Silent_p.R273R|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.R273R|VIM_uc001ioy.1_Silent_p.R273R|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.R273R|VIM_uc001ipc.1_Silent_p.R273R	p.R273R	NM_003380	NP_003371	P08670	VIME_HUMAN			5	1232	+			273			Rod.|Coil 2.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.819T>A	CCDS7120.1																																																																																				PASS	0.498	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		31	11	31	11	---	---	---	---
RASSF4	83937	broad.mit.edu	37	10	45467291	45467291	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr10:45467291C>A	ENST00000340258.5	+	3	246	c.133C>A	c.(133-135)Cgt>Agt	p.R45S	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_Missense_Mutation_p.R45S|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000334940.6_Intron	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					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.R45S(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						GCTGAGACACCGTGAGGTGAG	0.522																																						uc001jbo.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(133-135)CGT>AGT		Ras association domain family 4							186.0	138.0	154.0					10																	45467291		2203	4300	6503	SO:0001583	missense	83937				cell cycle|signal transduction		protein binding	g.chr10:45467291C>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.133C>A	10.37:g.45467291C>A	ENSP00000339692:p.Arg45Ser					RASSF4_uc001jbp.2_Missense_Mutation_p.R76S|RASSF4_uc009xmn.2_Intron|RASSF4_uc001jbq.2_5'UTR	p.R45S	NM_032023	NP_114412	Q9H2L5	RASF4_HUMAN			3	267	+			45					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	c.133C>A	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773485	0.49786	.	.	ENSG00000107551	ENST00000374417;ENST00000374414;ENST00000340258;ENST00000427758;ENST00000428466;ENST00000374411	T;T;T;T	0.28255	1.62;2.43;1.62;1.62	5.27	2.0	0.26442	.	0.312435	0.30446	N	0.009610	T	0.44074	0.1276	M	0.69823	2.125	0.80722	D	1	D;P	0.60160	0.987;0.796	P;B	0.54924	0.764;0.358	T	0.36578	-0.9742	10	0.46703	T	0.11	-8.1958	12.1715	0.54161	0.5678:0.4322:0.0:0.0	.	136;45	Q59FL4;Q9H2L5	.;RASF4_HUMAN	S	45;45;45;45;38;136	ENSP00000363538:R45S;ENSP00000339692:R45S;ENSP00000409767:R45S;ENSP00000413468:R38S	ENSP00000339692:R45S	R	+	1	0	RASSF4	44787297	0.997000	0.39634	0.998000	0.56505	0.642000	0.38348	0.268000	0.18571	0.219000	0.20840	-0.274000	0.10170	CGT		PASS	0.522	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	NM_032023		40	19	40	19	---	---	---	---
RHOBTB1	9886	broad.mit.edu	37	10	62652608	62652608	+	Missense_Mutation	SNP	C	C	A	rs141139124		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr10:62652608C>A	ENST00000337910.5	-	5	779	c.442G>T	c.(442-444)Gac>Tac	p.D148Y	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.D148Y	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	148	Rho-like.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.D148Y(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GCTTCCAGGTCGGCATAGCGG	0.502																																						uc001jli.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(442-444)GAC>TAC		Rho-related BTB domain containing 1							105.0	100.0	102.0					10																	62652608		2203	4300	6503	SO:0001583	missense	9886				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding	g.chr10:62652608C>A	AB018283	CCDS7261.1	10q22.1	2013-01-08			ENSG00000072422	ENSG00000072422		"""BTB/POZ domain containing"""	18738	protein-coding gene	gene with protein product		607351				11222756	Standard	NM_014836		Approved	KIAA0740	uc001jlh.3	O94844	OTTHUMG00000018292	ENST00000337910.5:c.442G>T	10.37:g.62652608C>A	ENSP00000338671:p.Asp148Tyr					RHOBTB1_uc001jlh.2_Missense_Mutation_p.D148Y|RHOBTB1_uc001jlj.2_Missense_Mutation_p.D148Y|RHOBTB1_uc001jlk.2_Missense_Mutation_p.D148Y|RHOBTB1_uc009xpe.1_Intron	p.D148Y	NM_014836	NP_055651	O94844	RHBT1_HUMAN			6	880	-	Prostate(12;0.0112)		148			Rho-like.			Missense_Mutation	SNP	ENST00000337910.5	37	c.442G>T	CCDS7261.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005554	0.74932	.	.	ENSG00000072422	ENST00000357917;ENST00000337910	T;T	0.25414	1.8;1.8	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.47229	0.1434	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.03086	-1.1074	10	0.29301	T	0.29	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	148	O94844	RHBT1_HUMAN	Y	148	ENSP00000350595:D148Y;ENSP00000338671:D148Y	ENSP00000338671:D148Y	D	-	1	0	RHOBTB1	62322614	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.814000	0.86154	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.502	RHOBTB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048220.1			57	27	57	27	---	---	---	---
NRG3	10718	broad.mit.edu	37	10	84745017	84745017	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr10:84745017G>T	ENST00000404547.1	+	10	1819	c.1819G>T	c.(1819-1821)Gag>Tag	p.E607*	NRG3_ENST00000545131.1_Nonsense_Mutation_p.E233*|NRG3_ENST00000372142.2_Nonsense_Mutation_p.E386*|NRG3_ENST00000556918.1_Nonsense_Mutation_p.E413*|NRG3_ENST00000537893.1_Nonsense_Mutation_p.E233*|NRG3_ENST00000404576.2_Nonsense_Mutation_p.E387*|NRG3_ENST00000372141.2_Nonsense_Mutation_p.E583*			P56975	NRG3_HUMAN	neuregulin 3	607					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.E583*(1)|p.E386*(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGTGGGTTTAGAGGAAACCTG	0.458																																						uc001kco.2																			2	Substitution - Nonsense(2)		lung(2)	lung(5)|breast(1)	6						c.(1747-1749)GAG>TAG		neuregulin 3 isoform 1							107.0	111.0	110.0					10																	84745017		2203	4300	6503	SO:0001587	stop_gained	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745017G>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1819G>T	10.37:g.84745017G>T	ENSP00000384796:p.Glu607*					NRG3_uc010qlz.1_Nonsense_Mutation_p.E582*|NRG3_uc001kcp.2_Nonsense_Mutation_p.E386*|NRG3_uc001kcq.2_Nonsense_Mutation_p.E233*|NRG3_uc001kcr.2_Nonsense_Mutation_p.E257*	p.E583*	NM_001010848	NP_001010848	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	9	1774	+			607			Cytoplasmic (Potential).		A4D7U1|Q0PEH2|Q5VYH3	Nonsense_Mutation	SNP	ENST00000404547.1	37	c.1747G>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020824	0.75275	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	.	.	.	5.95	5.95	0.96441	.	0.295841	0.35903	N	0.002907	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-47.4124	17.8962	0.88888	0.0:0.0:1.0:0.0	.	.	.	.	X	583;607;582;386;387;413;233;233	.	ENSP00000361214:E583X	E	+	1	0	NRG3	84734997	1.000000	0.71417	0.996000	0.52242	0.994000	0.84299	6.668000	0.74457	2.827000	0.97445	0.650000	0.86243	GAG		PASS	0.458	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		130	88	130	88	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89725055	89725055	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr10:89725055C>G	ENST00000371953.3	+	9	2395	c.1038C>G	c.(1036-1038)taC>taG	p.Y346*		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	346	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y346*(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Y346fs*1(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAGCTGTACTTCACAAAAA	0.318		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		50	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Nonsense(2)|Deletion - In frame(1)	p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.Y346*(1)|p.G165_*404del(1)|p.Y346fs*1(1)	prostate(16)|central_nervous_system(10)|lung(5)|skin(5)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|cervix(1)|soft_tissue(1)|endometrium(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(1036-1038)TAC>TAG		phosphatase and tensin homolog							37.0	35.0	36.0					10																	89725055		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89725055C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1038C>G	10.37:g.89725055C>G	ENSP00000361021:p.Tyr346*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.Y346*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	10	2069	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	346			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.1038C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	46	12.548524	0.99677	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.11	2.05	0.26809	.	0.210910	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.9862	7.7407	0.28839	0.0:0.4406:0.0:0.5594	.	.	.	.	X	346	.	.	Y	+	3	2	PTEN	89715035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.776000	0.26704	0.196000	0.20367	-0.229000	0.12294	TAC		PASS	0.318	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		29	10	29	10	---	---	---	---
CFAP43	80217	broad.mit.edu	37	10	105893440	105893440	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr10:105893440C>G	ENST00000357060.3	-	35	4649	c.4534G>C	c.(4534-4536)Gaa>Caa	p.E1512Q	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.E1484Q	NM_025145.5	NP_079421.5												p.E1512Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTAGATCTTCCCTTTCCATC	0.353																																						uc001kxw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4534-4536)GAA>CAA		hypothetical protein LOC80217							179.0	160.0	166.0					10																	105893440		2203	4300	6503	SO:0001583	missense	80217							g.chr10:105893440C>G																												ENST00000357060.3:c.4534G>C	10.37:g.105893440C>G	ENSP00000349568:p.Glu1512Gln					C10orf79_uc009xxq.2_Missense_Mutation_p.E791Q	p.E1512Q	NM_025145	NP_079421	Q8NDM7	WDR96_HUMAN		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)	35	4650	-		Colorectal(252;0.178)	1512						Missense_Mutation	SNP	ENST00000357060.3	37	c.4534G>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.554824	0.86231	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.17213	2.29;2.34	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	M	0.75264	2.295	0.50039	D	0.999848	D;D	0.76494	0.97;0.999	P;D	0.68353	0.771;0.957	T	0.09443	-1.0674	10	0.39692	T	0.17	.	16.6226	0.84934	0.0:0.8703:0.1297:0.0	.	1484;1512	G5E9L1;Q8NDM7	.;WDR96_HUMAN	Q	1512;1484	ENSP00000349568:E1512Q;ENSP00000400289:E1484Q	ENSP00000349568:E1512Q	E	-	1	0	WDR96	105883430	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.605000	0.67634	2.641000	0.89580	0.650000	0.86243	GAA		PASS	0.353	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				19	75	19	75	---	---	---	---
EDRF1	26098	broad.mit.edu	37	10	127438068	127438068	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr10:127438068G>A	ENST00000356792.4	+	22	3443	c.3211G>A	c.(3211-3213)Gat>Aat	p.D1071N	RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.D1037N|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		1071					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.D1037N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GCTGCTGAAAGATGCTCCCTG	0.443																																						uc001liq.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(3)|lung(2)	10						c.(3211-3213)GAT>AAT		erythroid differentiation-related factor 1							151.0	133.0	139.0					10																	127438068		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127438068G>A																												ENST00000356792.4:c.3211G>A	10.37:g.127438068G>A	ENSP00000349244:p.Asp1071Asn					C10orf137_uc001lio.1_Missense_Mutation_p.D1037N|C10orf137_uc001lip.1_Missense_Mutation_p.D775N|C10orf137_uc001lis.1_Missense_Mutation_p.D397N|C10orf137_uc001lit.1_5'UTR	p.D1071N	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN			22	3504	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	1071					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.3211G>A	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498965	0.64298	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	.	.	.	5.55	5.55	0.83447	.	0.106539	0.64402	D	0.000007	T	0.72391	0.3454	L	0.38838	1.175	0.80722	D	1	D;P;P	0.71674	0.998;0.703;0.873	D;B;P	0.81914	0.995;0.302;0.599	T	0.69555	-0.5114	9	0.35671	T	0.21	.	19.5003	0.95091	0.0:0.0:1.0:0.0	.	1071;418;1037	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	N	1071;1037	.	ENSP00000336727:D1037N	D	+	1	0	C10orf137	127428058	1.000000	0.71417	0.032000	0.17829	0.056000	0.15407	9.411000	0.97342	2.594000	0.87642	0.585000	0.79938	GAT		PASS	0.443	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			61	49	61	49	---	---	---	---
LMNTD2	256329	broad.mit.edu	37	11	557899	557899	+	Missense_Mutation	SNP	C	C	G	rs563413395		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:557899C>G	ENST00000329451.3	-	5	602	c.540G>C	c.(538-540)caG>caC	p.Q180H	RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000431809.1_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		180								p.Q180H(1)		NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACTGCCAGTCTGGGATCGTA	0.692																																						uc001lpx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(538-540)CAG>CAC		hypothetical protein LOC256329							19.0	17.0	18.0					11																	557899		2193	4285	6478	SO:0001583	missense	256329							g.chr11:557899C>G																												ENST00000329451.3:c.540G>C	11.37:g.557899C>G	ENSP00000331167:p.Gln180His					uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank	p.Q180H	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	603	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	180						Missense_Mutation	SNP	ENST00000329451.3	37	c.540G>C	CCDS7701.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176507	0.38413	.	.	ENSG00000185522	ENST00000329451;ENST00000441853;ENST00000486629	T;T;T	0.30981	1.51;1.51;1.51	3.76	0.799	0.18667	.	0.856007	0.09544	N	0.787922	T	0.27063	0.0663	N	0.19112	0.55	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.14254	-1.0479	10	0.72032	D	0.01	-15.252	3.9745	0.09468	0.0:0.4796:0.2574:0.263	.	180	Q8IXW0	CK035_HUMAN	H	180;187;190	ENSP00000331167:Q180H;ENSP00000393529:Q187H;ENSP00000435529:Q190H	ENSP00000331167:Q180H	Q	-	3	2	C11orf35	547899	0.942000	0.31987	0.111000	0.21465	0.740000	0.42216	0.565000	0.23578	0.006000	0.14734	0.456000	0.33151	CAG		PASS	0.692	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			5	15	5	15	---	---	---	---
KRTAP5-5	439915	broad.mit.edu	37	11	1651512	1651512	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:1651512G>T	ENST00000399676.2	+	1	480	c.442G>T	c.(442-444)Ggc>Tgc	p.G148C		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	148	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G148C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GTCCAAGGGGGGCTGTGGTTC	0.677																																						uc001lty.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(442-444)GGC>TGC		keratin associated protein 5-5							39.0	52.0	47.0					11																	1651512		2169	4231	6400	SO:0001583	missense	439915					keratin filament		g.chr11:1651512G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.442G>T	11.37:g.1651512G>T	ENSP00000382584:p.Gly148Cys						p.G148C	NM_001001480	NP_001001480	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	480	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	148			8 X 4 AA repeats of C-C-X-P.		A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.442G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	g	0.214	-1.033885	0.02029	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.01252	5.1	2.37	1.44	0.22558	.	.	.	.	.	T	0.02533	0.0077	N	0.24115	0.695	0.21105	N	0.999787	D	0.76494	0.999	P	0.62813	0.907	T	0.52343	-0.8588	9	0.48119	T	0.1	.	5.2147	0.15336	0.1714:0.0:0.8286:0.0	.	148	Q701N2	KRA55_HUMAN	C	148;119	ENSP00000382584:G148C	ENSP00000382584:G148C	G	+	1	0	KRTAP5-5	1608088	.	.	0.565000	0.28409	0.017000	0.09413	.	.	0.553000	0.29044	-0.300000	0.09419	GGC		PASS	0.677	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			16	26	16	26	---	---	---	---
RRM1	6240	broad.mit.edu	37	11	4154832	4154832	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:4154832G>T	ENST00000300738.5	+	17	2149	c.1945G>T	c.(1945-1947)Ggc>Tgc	p.G649C	RRM1_ENST00000534285.1_Missense_Mutation_p.G427C|RRM1_ENST00000423050.2_Missense_Mutation_p.G552C|RRM1_ENST00000537197.1_Missense_Mutation_p.G311C	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	649					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.G649C(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TACCGAGCGGGGCCTATGGCA	0.388																																					NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	uc001lyw.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1945-1947)GGC>TGC		ribonucleoside-diphosphate reductase M1 chain	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)						104.0	97.0	99.0					11																	4154832		2201	4298	6499	SO:0001583	missense	6240				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity	g.chr11:4154832G>T	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1945G>T	11.37:g.4154832G>T	ENSP00000300738:p.Gly649Cys					RRM1_uc009yej.2_RNA|RRM1_uc009yei.2_Missense_Mutation_p.G609C|RRM1_uc010qyc.1_Missense_Mutation_p.G552C|RRM1_uc010qyd.1_Missense_Mutation_p.G311C	p.G649C	NM_001033	NP_001024	P23921	RIR1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	17	2264	+		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)	649					Q9UNN2	Missense_Mutation	SNP	ENST00000300738.5	37	c.1945G>T	CCDS7750.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.667908	0.88348	.	.	ENSG00000167325	ENST00000300738;ENST00000423050;ENST00000536894;ENST00000534285;ENST00000543838;ENST00000537197	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.52	5.52	0.82312	Ribonucleoside-diphosphate reductase, alpha subunit (1);Ribonucleotide reductase large subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.82125	0.4969	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	D	0.89521	0.3778	10	0.87932	D	0	-9.6354	18.4154	0.90568	0.0:0.0:1.0:0.0	.	649	P23921	RIR1_HUMAN	C	649;552;562;427;427;311	ENSP00000300738:G649C;ENSP00000390539:G552C;ENSP00000431464:G427C;ENSP00000442148:G311C	ENSP00000300738:G649C	G	+	1	0	RRM1	4111408	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.476000	0.97823	2.588000	0.87417	0.655000	0.94253	GGC		PASS	0.388	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033		27	60	27	60	---	---	---	---
OR51F1	256892	broad.mit.edu	37	11	4790700	4790700	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:4790700T>A	ENST00000380383.1	-	1	468	c.469A>T	c.(469-471)Atg>Ttg	p.M157L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.M150L			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M150L(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)		CGTGTAATCATCAGAAGACCC	0.428																																						uc010qyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(448-450)ATG>TTG		olfactory receptor, family 51, subfamily F,							100.0	101.0	101.0					11																	4790700		2201	4298	6499	SO:0001583	missense	256892					integral to membrane	olfactory receptor activity	g.chr11:4790700T>A	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.469A>T	11.37:g.4790700T>A	ENSP00000369744:p.Met157Leu						p.M150L	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	448	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)	150						Missense_Mutation	SNP	ENST00000380383.1	37	c.448A>T		.	.	.	.	.	.	.	.	.	.	T	2.748	-0.260664	0.05791	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.35421	1.31;1.31	5.01	2.59	0.31030	GPCR, rhodopsin-like superfamily (1);	0.263950	0.33180	N	0.005191	T	0.21631	0.0521	N	0.25094	0.71	0.09310	N	1	B	0.11235	0.004	B	0.16722	0.016	T	0.15809	-1.0424	10	0.48119	T	0.1	.	5.7508	0.18146	0.0:0.1522:0.1428:0.705	.	157	A6NGY5	O51F1_HUMAN	L	150;157	ENSP00000345163:M150L;ENSP00000369744:M157L	ENSP00000345163:M150L	M	-	1	0	OR51F1	4747276	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.124000	0.10595	0.356000	0.24157	0.523000	0.50628	ATG		PASS	0.428	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001004752		39	61	39	61	---	---	---	---
OR51G2	81282	broad.mit.edu	37	11	4936228	4936228	+	Silent	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:4936228A>T	ENST00000322013.3	-	1	694	c.666T>A	c.(664-666)tcT>tcA	p.S222S	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S222S(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		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)		TCAGAGCATAAGAGAAGAGGA	0.522																																						uc001lzr.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(664-666)TCT>TCA		olfactory receptor, family 51, subfamily G,							138.0	108.0	118.0					11																	4936228		2201	4298	6499	SO:0001819	synonymous_variant	81282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4936228A>T	AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.666T>A	11.37:g.4936228A>T							p.S222S	NM_001005238	NP_001005238	Q8NGK0	O51G2_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	666	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	222			Helical; Name=5; (Potential).		Q6IFH7	Silent	SNP	ENST00000322013.3	37	c.666T>A	CCDS31365.1																																																																																				PASS	0.522	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142174.1	NM_001005238		22	66	22	66	---	---	---	---
OR51V1	283111	broad.mit.edu	37	11	5221333	5221333	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:5221333C>A	ENST00000321255.1	-	1	597	c.598G>T	c.(598-600)Gac>Tac	p.D200Y		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	200					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D200Y(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATCGGATGTCTGAACAGGCT	0.418																																						uc010qyz.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(598-600)GAC>TAC		olfactory receptor, family 51, subfamily V,							56.0	54.0	55.0					11																	5221333		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221333C>A	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.598G>T	11.37:g.5221333C>A	ENSP00000321729:p.Asp200Tyr						p.D200Y	NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	598	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	200			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000321255.1	37	c.598G>T	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299325	0.40694	.	.	ENSG00000176742	ENST00000321255	T	0.42900	0.96	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000038	T	0.79429	0.4444	H	0.98786	4.33	0.29477	N	0.85664	D	0.89917	1.0	D	0.80764	0.994	T	0.82341	-0.0505	10	0.87932	D	0	.	17.6131	0.88060	0.0:1.0:0.0:0.0	.	200	Q9H2C8	O51V1_HUMAN	Y	200	ENSP00000321729:D200Y	ENSP00000321729:D200Y	D	-	1	0	OR51V1	5177909	0.120000	0.22244	1.000000	0.80357	0.220000	0.24768	0.948000	0.29096	2.742000	0.94016	0.655000	0.94253	GAC		PASS	0.418	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		36	62	36	62	---	---	---	---
HBG1	3047	broad.mit.edu	37	11	5270650	5270650	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:5270650T>C	ENST00000330597.3	-	2	350	c.263A>G	c.(262-264)cAg>cGg	p.Q88R		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	88					blood coagulation (GO:0007596)	cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.Q88R(2)		large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCACTCAGCTGGGCAAAGGT	0.522																																					Ovarian(117;2080 2193 33416 49679)	uc001mah.1																			2	Substitution - Missense(2)		lung(2)		0						c.(262-264)CAG>CGG		A-gamma globin							30.0	30.0	30.0					11																	5270650		2009	3951	5960	SO:0001583	missense	3047				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding	g.chr11:5270650T>C	M91036	CCDS7754.1	11p15.5	2014-05-19			ENSG00000213934	ENSG00000213934			4831	protein-coding gene	gene with protein product		142200				2649166	Standard	NM_000559		Approved	HBG-T2	uc001mah.1	P69891	OTTHUMG00000066681	ENST00000330597.3:c.263A>G	11.37:g.5270650T>C	ENSP00000327431:p.Gln88Arg					HBG2_uc001mai.1_Intron	p.Q88R	NM_000559	NP_000550	P69891	HBG1_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	316	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	88					P02096|P62027|Q549G1|Q8TDA1|Q96FH7	Missense_Mutation	SNP	ENST00000330597.3	37	c.263A>G	CCDS7754.1	.	.	.	.	.	.	.	.	.	.	T	10.79	1.450483	0.26074	.	.	ENSG00000213934	ENST00000330597;ENST00000380256	D	0.93426	-3.22	2.78	1.55	0.23275	.	.	.	.	.	D	0.88392	0.6424	L	0.45051	1.395	0.09310	N	1	B	0.17667	0.023	B	0.23018	0.043	T	0.79215	-0.1895	9	0.66056	D	0.02	.	3.6588	0.08230	0.0:0.1273:0.2292:0.6435	.	88	D9YZU8	.	R	88	ENSP00000327431:Q88R	ENSP00000327431:Q88R	Q	-	2	0	HBG1	5227226	0.008000	0.16893	0.006000	0.13384	0.756000	0.42949	1.786000	0.38694	0.261000	0.21753	0.248000	0.18094	CAG		PASS	0.522	HBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142982.1	NM_000559		5	55	5	55	---	---	---	---
HBG2	3048	broad.mit.edu	37	11	5275574	5275574	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:5275574T>C	ENST00000380259.2	-	7	1503	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	HBG2_ENST00000336906.4_Missense_Mutation_p.Q88R|HBG2_ENST00000380252.1_Missense_Mutation_p.Q78R			P69892	HBG2_HUMAN	hemoglobin, gamma G	88					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.Q88R(2)		endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCACTCAGCTGGGCAAAGGT	0.512																																						uc001mai.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(262-264)CAG>CGG		A-gamma globin							224.0	175.0	191.0					11																	5275574		2201	4298	6499	SO:0001583	missense	3048				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5275574T>C	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.263A>G	11.37:g.5275574T>C	ENSP00000369609:p.Gln88Arg					HBG2_uc001mak.1_RNA|HBG2_uc001maj.1_Missense_Mutation_p.Q88R	p.Q88R	NM_000559	NP_000550	P69892	HBG2_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	700	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	88					A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	ENST00000380259.2	37	c.263A>G	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	T	9.402	1.078203	0.20227	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.93426	-3.22;-3.22;-3.22	4.08	1.51	0.23008	Globin-like (2);Globin, structural domain (2);	.	.	.	.	D	0.89368	0.6695	L	0.45051	1.395	0.09310	N	1	B;B	0.14012	0.004;0.009	B;B	0.27887	0.084;0.043	T	0.80991	-0.1135	9	0.66056	D	0.02	.	6.2168	0.20659	0.0:0.0896:0.1606:0.7498	.	88;88	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	R	78;88;88;88	ENSP00000369602:Q78R;ENSP00000369609:Q88R;ENSP00000338082:Q88R	ENSP00000338082:Q88R	Q	-	2	0	HBG2	5232150	0.094000	0.21725	0.000000	0.03702	0.215000	0.24574	2.854000	0.48325	0.167000	0.19631	0.528000	0.53228	CAG		PASS	0.512	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		26	158	26	158	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969255	5969255	+	Nonsense_Mutation	SNP	C	C	T	rs188845678		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:5969255C>T	ENST00000329564.6	+	1	686	c.679C>T	c.(679-681)Cga>Tga	p.R227*		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R227*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCATTCTGCGAGCTGTGCT	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		22092	0.001		0.0	False		,,,				2504	0.0					uc010qzt.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(679-681)CGA>TGA		olfactory receptor, family 56, subfamily A,							192.0	189.0	190.0					11																	5969255		2183	4282	6465	SO:0001587	stop_gained	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969255C>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.679C>T	11.37:g.5969255C>T	ENSP00000331572:p.Arg227*						p.R227*	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	679	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	227			Cytoplasmic (Potential).		A6NN77|Q6IFF7	Nonsense_Mutation	SNP	ENST00000329564.6	37	c.679C>T	CCDS41614.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	4.135	0.023296	0.08006	.	.	ENSG00000184478	ENST00000329564	.	.	.	5.13	-8.28	0.01013	.	0.149992	0.30762	N	0.008933	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.0633	22.6536	0.99974	0.7951:0.2048:0.0:0.0	.	.	.	.	X	227	.	ENSP00000331572:R227X	R	+	1	2	OR56A3	5925831	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-8.223000	0.00023	-1.903000	0.01093	-2.727000	0.00130	CGA		PASS	0.517	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		69	157	69	157	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969377	5969377	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:5969377G>T	ENST00000329564.6	+	1	808	c.801G>T	c.(799-801)gtG>gtT	p.V267V		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V267V(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCACACATGTGGCTAAGAAGA	0.522																																						uc010qzt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(799-801)GTG>GTT		olfactory receptor, family 56, subfamily A,							208.0	203.0	204.0					11																	5969377		2188	4291	6479	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969377G>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.801G>T	11.37:g.5969377G>T							p.V267V	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	801	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	267			Extracellular (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.801G>T	CCDS41614.1																																																																																				PASS	0.522	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		72	197	72	197	---	---	---	---
OR52L1	338751	broad.mit.edu	37	11	6007834	6007834	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:6007834C>A	ENST00000332249.4	-	1	381	c.327G>T	c.(325-327)gaG>gaT	p.E109D		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E94D(1)|p.E109D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTACCCAATCTCGTGGGCAT	0.542																																					Melanoma(121;653 1666 10547 22796 51255)	uc001mcd.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)|pancreas(1)	2						c.(325-327)GAG>GAT		olfactory receptor, family 52, subfamily L,							63.0	65.0	64.0					11																	6007834		2124	4244	6368	SO:0001583	missense	338751				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6007834C>A	AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.327G>T	11.37:g.6007834C>A	ENSP00000330338:p.Glu109Asp						p.E109D	NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	382	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	109			Extracellular (Potential).		B2RPA6|Q6IFK9	Missense_Mutation	SNP	ENST00000332249.4	37	c.327G>T	CCDS44529.1	.	.	.	.	.	.	.	.	.	.	C	5.057	0.196209	0.09599	.	.	ENSG00000183313	ENST00000332249	T	0.00554	6.64	3.5	1.22	0.21188	GPCR, rhodopsin-like superfamily (1);	0.173921	0.27306	N	0.019969	T	0.00552	0.0018	L	0.55834	1.745	0.22213	N	0.999285	B	0.13145	0.007	B	0.09377	0.004	T	0.44298	-0.9337	10	0.44086	T	0.13	.	7.9045	0.29755	0.1808:0.6434:0.1758:0.0	.	109	Q8NGH7	O52L1_HUMAN	D	109	ENSP00000330338:E109D	ENSP00000330338:E109D	E	-	3	2	OR52L1	5964410	0.000000	0.05858	1.000000	0.80357	0.044000	0.14063	-1.330000	0.02675	0.543000	0.28864	0.313000	0.20887	GAG		PASS	0.542	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383754.1	NM_001005173		18	27	18	27	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6651098	6651098	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:6651098C>A	ENST00000299441.3	-	11	5251	c.4840G>T	c.(4840-4842)Gag>Tag	p.E1614*	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1614	Cadherin 15. {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.E1614*(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)		AGTACGTGCTCAGCTCGTTGT	0.662																																						uc001mem.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(4840-4842)GAG>TAG		dachsous 1 precursor							49.0	49.0	49.0					11																	6651098		2201	4296	6497	SO:0001587	stop_gained	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6651098C>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.4840G>T	11.37:g.6651098C>A	ENSP00000299441:p.Glu1614*						p.E1614*	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	11	5250	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1614			Cadherin 15.|Extracellular (Potential).		O15098	Nonsense_Mutation	SNP	ENST00000299441.3	37	c.4840G>T	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	44	11.124240	0.99519	.	.	ENSG00000166341	ENST00000299441	.	.	.	5.1	5.1	0.69264	.	0.134922	0.33364	N	0.004985	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	8.8181	0.35009	0.1567:0.6703:0.173:0.0	.	.	.	.	X	1614	.	ENSP00000299441:E1614X	E	-	1	0	DCHS1	6607674	0.728000	0.28080	0.997000	0.53966	0.006000	0.05464	1.522000	0.35921	2.668000	0.90789	0.563000	0.77884	GAG		PASS	0.662	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		26	55	26	55	---	---	---	---
OR10A3	26496	broad.mit.edu	37	11	7960523	7960523	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:7960523G>A	ENST00000360759.3	-	1	618	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	182					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P182L(1)		endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGTACCGGGGGAGTCTCACA	0.438																																						uc010rbi.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(544-546)CCC>CTC		olfactory receptor, family 10, subfamily A,							81.0	77.0	79.0					11																	7960523		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960523G>A	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.545C>T	11.37:g.7960523G>A	ENSP00000353988:p.Pro182Leu						p.P182L	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	545	-			182			Extracellular (Potential).		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.545C>T	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	G	9.736	1.163447	0.21538	.	.	ENSG00000170683	ENST00000360759	T	0.00188	8.59	4.95	4.95	0.65309	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	U	0.001030	T	0.00440	0.0014	L	0.49455	1.56	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64841	-0.6312	10	0.52906	T	0.07	.	16.0778	0.80979	0.0:0.0:1.0:0.0	.	182	P58181	O10A3_HUMAN	L	182	ENSP00000353988:P182L	ENSP00000353988:P182L	P	-	2	0	OR10A3	7917099	0.002000	0.14202	0.192000	0.23308	0.001000	0.01503	1.220000	0.32491	2.742000	0.94016	0.650000	0.86243	CCC		PASS	0.438	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		44	70	44	70	---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10827516	10827516	+	Silent	SNP	G	G	A	rs376340882		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:10827516G>A	ENST00000526148.1	-	4	696	c.186C>T	c.(184-186)tcC>tcT	p.S62S	EIF4G2_ENST00000525995.1_5'UTR|EIF4G2_ENST00000339995.5_Silent_p.S62S|EIF4G2_ENST00000396525.2_Silent_p.S62S|EIF4G2_ENST00000525681.1_Silent_p.S62S	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2									p.S62S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGTTTGCTGCGGAGTTGTCAT	0.433																																						uc001mjc.2																			2	Substitution - coding silent(2)		lung(1)|prostate(1)	ovary(1)|central_nervous_system(1)	2						c.(184-186)TCC>TCT		eukaryotic translation initiation factor 4		G	,,	1,4401	2.1+/-5.4	0,1,2200	262.0	234.0	244.0		186,186,186	5.3	1.0	11		244	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous	EIF4G2	NM_001042559.2,NM_001172705.1,NM_001418.3	,,	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,,	62/870,62/908,62/908	10827516	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10827516G>A	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.186C>T	11.37:g.10827516G>A						EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Silent_p.S62S|EIF4G2_uc001mjf.1_5'UTR	p.S62S	NM_001418	NP_001409	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	4	603	-			62						Silent	SNP	ENST00000526148.1	37	c.186C>T	CCDS31428.1																																																																																				PASS	0.433	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		102	229	102	229	---	---	---	---
KCNC1	3746	broad.mit.edu	37	11	17793277	17793277	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:17793277C>A	ENST00000379472.3	+	2	666	c.636C>A	c.(634-636)caC>caA	p.H212Q	KCNC1_ENST00000265969.6_Missense_Mutation_p.H212Q	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	212					potassium ion transport (GO:0006813)|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)|voltage-gated potassium channel activity (GO:0005249)	p.H212Q(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	TGGAGACCCACGAGCGCTTCA	0.577																																						uc001mnk.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(634-636)CAC>CAA		Shaw-related voltage-gated potassium channel							160.0	130.0	140.0					11																	17793277		2200	4293	6493	SO:0001583	missense	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793277C>A	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.636C>A	11.37:g.17793277C>A	ENSP00000368785:p.His212Gln					KCNC1_uc009yhc.1_Missense_Mutation_p.H212Q	p.H212Q	NM_004976	NP_004967	P48547	KCNC1_HUMAN			2	691	+			212					K4DI87	Missense_Mutation	SNP	ENST00000379472.3	37	c.636C>A	CCDS7827.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769775	0.69992	.	.	ENSG00000129159	ENST00000265969;ENST00000379472	D;D	0.97455	-4.39;-4.39	4.7	-0.612	0.11597	.	0.046257	0.85682	D	0.000000	D	0.98015	0.9346	M	0.87827	2.91	0.80722	D	1	P;D	0.89917	0.917;1.0	P;D	0.87578	0.577;0.998	D	0.97017	0.9740	10	0.59425	D	0.04	.	10.3209	0.43764	0.0:0.5792:0.0:0.4208	.	212;212	Q3KNS8;P48547	.;KCNC1_HUMAN	Q	212	ENSP00000265969:H212Q;ENSP00000368785:H212Q	ENSP00000265969:H212Q	H	+	3	2	KCNC1	17749853	0.003000	0.15002	1.000000	0.80357	0.997000	0.91878	-1.094000	0.03359	0.083000	0.17047	0.505000	0.49811	CAC		PASS	0.577	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		48	106	48	106	---	---	---	---
DCDC1	341019	broad.mit.edu	37	11	30926552	30926552	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:30926552C>A	ENST00000597505.1	-	29	4263	c.4264G>T	c.(4264-4266)Ggg>Tgg	p.G1422W	DCDC1_ENST00000339794.5_Missense_Mutation_p.G501W|DCDC1_ENST00000406071.2_Missense_Mutation_p.G157W			P59894	DCDC1_HUMAN	doublecortin domain containing 1	184					intracellular signal transduction (GO:0035556)			p.G501W(1)|p.G109W(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TTACGATACCCATCCCCATTT	0.458																																						uc001mss.1																			2	Substitution - Missense(2)		lung(2)										Homo sapiens mRNA for KIAA1493 protein, partial cds.							194.0	161.0	172.0					11																	30926552		2202	4299	6501	SO:0001583	missense	0							g.chr11:30926552C>A	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4264G>T	11.37:g.30926552C>A	ENSP00000472625:p.Gly1422Trp					uc009yjk.1_Missense_Mutation_p.G870W|uc009yjj.1_RNA								9		-								A6PVL6|B7WNX6|Q6ZU04	RNA	SNP	ENST00000597505.1	37	c.1367G>T		.	.	.	.	.	.	.	.	.	.	C	18.23	3.579066	0.65878	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	D;D	0.93247	-3.19;-3.19	5.3	4.38	0.52667	Doublecortin domain (2);	0.000000	0.56097	D	0.000037	D	0.95705	0.8603	M	0.71581	2.175	0.27859	N	0.940469	D	0.89917	1.0	D	0.91635	0.999	D	0.90454	0.4441	10	0.87932	D	0	-21.2428	11.6332	0.51187	0.0:0.9135:0.0:0.0865	.	501	Q6ZRR9	DCDC5_HUMAN	W	157;501	ENSP00000385936:G157W;ENSP00000341700:G501W	ENSP00000341700:G501W	G	-	1	0	DCDC5	30883128	0.994000	0.37717	1.000000	0.80357	0.841000	0.47740	2.221000	0.42917	2.469000	0.83416	0.650000	0.86243	GGG		PASS	0.458	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807		32	70	32	70	---	---	---	---
WT1-AS	51352	broad.mit.edu	37	11	32460662	32460662	+	RNA	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:32460662C>G	ENST00000395900.1	+	0	1540				WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000426618.2_RNA|WT1-AS_ENST00000494911.1_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000478367.1_RNA|WT1-AS_ENST00000459866.1_RNA	NR_023920.1		Q06250	WIT1_HUMAN	WT1 antisense RNA									p.P79A(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGTGCGCACGCCTGGGCCGCC	0.667																																						uc010rec.1																			1	Substitution - Missense(1)		lung(1)		0								full-length cDNA clone CS0DC024YP12 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).							15.0	17.0	16.0					11																	32460662		2189	4289	6478			51352							g.chr11:32460662C>G	BC002734		11p13	2012-10-19	2012-08-15	2012-01-25	ENSG00000183242	ENSG00000183242		"""Long non-coding RNAs"", ""-"""	18135	non-coding RNA	RNA, long non-coding	"""Wilms tumor associated protein"""	607899	"""Wilms tumor upstream neighbor 1"", ""WT1 antisense RNA (non-protein coding)"""	WIT1		2173145, 8406502, 17210670	Standard	NR_120546		Approved	WIT-1, WT1AS, WT1-AS1	uc010red.2	Q06250	OTTHUMG00000039557		11.37:g.32460662C>G						WIT1_uc010red.1_RNA|WIT1_uc010ree.1_Intron		NR_023920						2		+	Breast(20;0.247)							Q4KMY0|Q96A27	RNA	SNP	ENST00000395900.1	37	c.1380C>G																																																																																					PASS	0.667	WT1-AS-001	KNOWN	basic	antisense	antisense	OTTHUMT00000095437.1	NR_023920		10	19	10	19	---	---	---	---
SLC1A2	6506	broad.mit.edu	37	11	35313909	35313909	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:35313909A>C	ENST00000278379.3	-	7	1298	c.1016T>G	c.(1015-1017)gTg>gGg	p.V339G	SLC1A2_ENST00000606205.1_Missense_Mutation_p.V339G|SLC1A2_ENST00000395753.1_Missense_Mutation_p.V330G|SLC1A2_ENST00000395750.1_Missense_Mutation_p.V330G	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	339					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.V339G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			TTTCCTGGTCACTACAAAGTA	0.473																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1015-1017)GTG>GGG		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						185.0	184.0	184.0					11																	35313909		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35313909A>C	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1016T>G	11.37:g.35313909A>C	ENSP00000278379:p.Val339Gly					SLC1A2_uc001mwe.2_Missense_Mutation_p.V330G|SLC1A2_uc010rev.1_Missense_Mutation_p.V339G	p.V339G	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		7	1608	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	339			Helical; (Potential).		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1016T>G	CCDS31459.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.60|17.60	3.428877|3.428877	0.62844|0.62844	.|.	.|.	ENSG00000110436|ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753|ENST00000531628	T;T;T|.	0.60548|.	0.18;0.18;0.18|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.051384|.	0.64402|.	D|.	0.000001|.	T|.	0.62901|.	0.2466|.	L|L	0.48174|0.48174	1.505|1.505	0.80722|0.80722	D|D	1|1	B;B|.	0.16396|.	0.017;0.003|.	B;B|.	0.15870|.	0.014;0.008|.	T|.	0.60490|.	-0.7253|.	10|.	0.45353|.	T|.	0.12|.	-21.8699|-21.8699	15.4372|15.4372	0.75155|0.75155	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	339;339|.	B4DQE9;P43004|.	.;EAA2_HUMAN|.	G|G	339;330;330|57	ENSP00000278379:V339G;ENSP00000379099:V330G;ENSP00000379102:V330G|.	ENSP00000278379:V339G|.	V|X	-|-	2|1	0|0	SLC1A2|SLC1A2	35270485|35270485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	9.339000|9.339000	0.96797|0.96797	2.043000|2.043000	0.60533|0.60533	0.533000|0.533000	0.62120|0.62120	GTG|TGA		PASS	0.473	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		72	166	72	166	---	---	---	---
RAG2	5897	broad.mit.edu	37	11	36615433	36615433	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:36615433C>A	ENST00000311485.3	-	2	447	c.286G>T	c.(286-288)Ggg>Tgg	p.G96W	C11orf74_ENST00000334307.5_5'Flank|C11orf74_ENST00000446510.2_5'Flank|C11orf74_ENST00000347206.4_5'Flank|RAG2_ENST00000528428.1_5'Flank|C11orf74_ENST00000534635.1_5'Flank	NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	96					B cell differentiation (GO:0030183)|chromatin modification (GO:0016568)|pre-B cell allelic exclusion (GO:0002331)|T cell differentiation in thymus (GO:0033077)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.G96W(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGTGTTTTCCCTCCATGGATG	0.423									Familial Hemophagocytic Lymphohistiocytosis																													uc001mwv.3																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)	5						c.(286-288)GGG>TGG		recombination activating gene 2							156.0	155.0	156.0					11																	36615433		2202	4298	6500	SO:0001583	missense	5897	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	g.chr11:36615433C>A	AF080577	CCDS7903.1	11p13	2014-09-17				ENSG00000175097			9832	protein-coding gene	gene with protein product		179616				1283330	Standard	NM_000536		Approved		uc001mwv.4	P55895		ENST00000311485.3:c.286G>T	11.37:g.36615433C>A	ENSP00000308620:p.Gly96Trp					C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank	p.G96W	NM_000536	NP_000527	P55895	RAG2_HUMAN			2	474	-	all_lung(20;0.226)	all_hematologic(20;0.00756)	96					A8K9E9|Q8TBL4	Missense_Mutation	SNP	ENST00000311485.3	37	c.286G>T	CCDS7903.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.770485	0.69992	.	.	ENSG00000175097	ENST00000311485;ENST00000529083	D;D	0.97941	-1.87;-4.62	5.52	5.52	0.82312	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99100	1.0843	10	0.87932	D	0	-0.0016	19.442	0.94824	0.0:1.0:0.0:0.0	.	96	P55895	RAG2_HUMAN	W	96	ENSP00000308620:G96W;ENSP00000436327:G96W	ENSP00000308620:G96W	G	-	1	0	RAG2	36572009	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.487000	0.81328	2.593000	0.87608	0.650000	0.86243	GGG		PASS	0.423	RAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389536.1	NM_000536		51	139	51	139	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43411371	43411371	+	Splice_Site	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:43411371G>T	ENST00000039989.4	+	3	433	c.419G>T	c.(418-420)aGt>aTt	p.S140I	TTC17_ENST00000299240.6_Splice_Site_p.S140I|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	140					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S140I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AAAGACATCAGGTAAAGAAGT	0.358																																						uc001mxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(418-420)AGT>ATT		tetratricopeptide repeat domain 17							102.0	103.0	102.0					11																	43411371		2203	4300	6503	SO:0001630	splice_region_variant	55761						binding	g.chr11:43411371G>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.419+1G>T	11.37:g.43411371G>T						TTC17_uc001mxh.2_Missense_Mutation_p.S140I|TTC17_uc010rfj.1_Missense_Mutation_p.S83I	p.S140I	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			3	433	+			140					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.419G>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188284	0.38609	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.33654	1.4;1.42	5.02	5.02	0.67125	.	0.351137	0.37483	N	0.002074	T	0.30665	0.0772	L	0.29908	0.895	0.31134	N	0.707388	B;B;B	0.16166	0.001;0.016;0.001	B;B;B	0.12156	0.003;0.003;0.007	T	0.15150	-1.0447	10	0.35671	T	0.21	-5.4673	18.713	0.91664	0.0:0.0:1.0:0.0	.	140;140;140	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	I	140	ENSP00000299240:S140I;ENSP00000039989:S140I	ENSP00000039989:S140I	S	+	2	0	TTC17	43367947	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.469000	0.60169	2.477000	0.83638	0.563000	0.77884	AGT		PASS	0.358	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259	Missense_Mutation	52	92	52	92	---	---	---	---
MTCH2	23788	broad.mit.edu	37	11	47660338	47660338	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:47660338G>A	ENST00000302503.3	-	3	349	c.192C>T	c.(190-192)atC>atT	p.I64I	MTCH2_ENST00000542981.1_5'UTR	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	64					protein localization to mitochondrion (GO:0070585)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)		p.I64I(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GCCTCCCATCGATACTGGCAA	0.433																																						uc010rho.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(190-192)ATC>ATT		mitochondrial carrier 2							62.0	56.0	58.0					11																	47660338		2201	4298	6499	SO:0001819	synonymous_variant	23788				transport	integral to membrane|mitochondrial inner membrane		g.chr11:47660338G>A	AF085361	CCDS7943.1	11p11.2	2013-05-22	2011-05-19		ENSG00000109919	ENSG00000109919		"""Solute carriers"""	17587	protein-coding gene	gene with protein product	"""solute carrier family 25, member 50"""	613221	"""mitochondrial carrier homolog 2 (C. elegans)"""				Standard	NM_014342		Approved	SLC25A50	uc010rho.2	Q9Y6C9	OTTHUMG00000166926	ENST00000302503.3:c.192C>T	11.37:g.47660338G>A						MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_5'UTR	p.I64I	NM_014342	NP_055157	Q9Y6C9	MTCH2_HUMAN			3	381	-			64			Solcar 1.		B2R7L8	Silent	SNP	ENST00000302503.3	37	c.192C>T	CCDS7943.1																																																																																				PASS	0.433	MTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391921.2	NM_014342		21	78	21	78	---	---	---	---
OR4X2	119764	broad.mit.edu	37	11	48267239	48267239	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:48267239G>T	ENST00000302329.3	+	1	632	c.584G>T	c.(583-585)gGa>gTa	p.G195V		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G195V(1)		breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GTTGCCAATGGAGGCACCCTG	0.502																																						uc001ngs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)GGA>GTA		olfactory receptor, family 4, subfamily X,							239.0	212.0	221.0					11																	48267239		2201	4298	6499	SO:0001583	missense	119764				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48267239G>T	AB065847	CCDS31486.1	11p11.2	2012-08-09			ENSG00000172208	ENSG00000172208		"""GPCR / Class A : Olfactory receptors"""	15184	protein-coding gene	gene with protein product							Standard	NM_001004727		Approved		uc001ngs.1	Q8NGF9	OTTHUMG00000165302	ENST00000302329.3:c.584G>T	11.37:g.48267239G>T	ENSP00000307751:p.Gly195Val						p.G195V	NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN			1	584	+			195			Helical; Name=5; (Potential).		B2RNK3|Q6IF73|Q96R63	Missense_Mutation	SNP	ENST00000302329.3	37	c.584G>T	CCDS31486.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911583	0.33721	.	.	ENSG00000172208	ENST00000302329	T	0.36699	1.24	5.37	4.44	0.53790	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.48677	0.1513	L	0.35723	1.085	0.29026	N	0.886016	D	0.59357	0.985	D	0.69654	0.965	T	0.48875	-0.8996	10	0.87932	D	0	.	13.7304	0.62783	0.0:0.1557:0.8443:0.0	.	195	Q8NGF9	OR4X2_HUMAN	V	195	ENSP00000307751:G195V	ENSP00000307751:G195V	G	+	2	0	OR4X2	48223815	0.001000	0.12720	0.665000	0.29768	0.518000	0.34316	0.486000	0.22340	1.215000	0.43411	0.650000	0.86243	GGA		PASS	0.502	OR4X2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383376.2	NM_001004727		98	206	98	206	---	---	---	---
OR4A47	403253	broad.mit.edu	37	11	48510770	48510770	+	Silent	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:48510770G>C	ENST00000446524.1	+	1	502	c.426G>C	c.(424-426)ctG>ctC	p.L142L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L142L(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GTGTTGTGCTGCTGGTAGTGT	0.448																																						uc010rhx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(424-426)CTG>CTC		olfactory receptor, family 4, subfamily A,							120.0	104.0	109.0					11																	48510770		2201	4298	6499	SO:0001819	synonymous_variant	403253				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48510770G>C	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.426G>C	11.37:g.48510770G>C							p.L142L	NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN			1	426	+			142			Helical; Name=4; (Potential).			Silent	SNP	ENST00000446524.1	37	c.426G>C	CCDS31490.1																																																																																				PASS	0.448	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390559.1	NM_001005512		63	100	63	100	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974765	49974765	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:49974765C>A	ENST00000555099.1	+	1	823	c.791C>A	c.(790-792)cCc>cAc	p.P264H		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	264						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P264H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCTACTTTACCCATTGATAAA	0.408																																						uc010rhz.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(790-792)CCC>CAC		olfactory receptor, family 4, subfamily C,							135.0	128.0	130.0					11																	49974765		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974765C>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.791C>A	11.37:g.49974765C>A	ENSP00000452277:p.Pro264His						p.P264H	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	791	+			264			Extracellular (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.791C>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	1.382	-0.583198	0.03827	.	.	ENSG00000258817	ENST00000555099	T	0.00069	8.77	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.672429	0.13022	N	0.419990	T	0.00144	0.0004	N	0.21194	0.64	0.09310	N	1	B	0.21452	0.056	B	0.37451	0.25	T	0.07770	-1.0755	9	.	.	.	.	5.9544	0.19265	0.0:0.8519:0.0:0.1481	.	264	Q8NGP0	OR4CD_HUMAN	H	264	ENSP00000452277:P264H	.	P	+	2	0	OR4C13	49931341	0.000000	0.05858	0.001000	0.08648	0.073000	0.16967	0.072000	0.14617	1.641000	0.50575	0.186000	0.17326	CCC		PASS	0.408	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		76	166	76	166	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135439	55135439	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:55135439C>T	ENST00000314706.3	+	1	80	c.80C>T	c.(79-81)tCa>tTa	p.S27L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S27L(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CCAACACCTTCAGAAGAACAC	0.388																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(79-81)TCA>TTA		olfactory receptor, family 4, subfamily A,							62.0	58.0	59.0					11																	55135439		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135439C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.80C>T	11.37:g.55135439C>T	ENSP00000325065:p.Ser27Leu						p.S27L	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	80	+			27			Extracellular (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.80C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	C	9.784	1.176180	0.21704	.	.	ENSG00000181958	ENST00000314706	T	0.00462	7.26	2.48	0.395	0.16304	.	.	.	.	.	T	0.00210	0.0006	N	0.08118	0	0.09310	N	1	B	0.30326	0.276	B	0.22880	0.042	T	0.28427	-1.0044	9	0.32370	T	0.25	.	5.059	0.14548	0.0:0.6753:0.0:0.3247	.	27	Q8NGL6	O4A15_HUMAN	L	27	ENSP00000325065:S27L	ENSP00000325065:S27L	S	+	2	0	OR4A15	54892015	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.241000	0.02911	-0.022000	0.13986	-0.387000	0.06579	TCA		PASS	0.388	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		34	52	34	52	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135835	55135835	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:55135835A>G	ENST00000314706.3	+	1	476	c.476A>G	c.(475-477)cAt>cGt	p.H159R		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	159						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H159R(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAGCCTCTTCATGAATTGATC	0.413																																						uc010rif.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(475-477)CAT>CGT		olfactory receptor, family 4, subfamily A,							221.0	202.0	208.0					11																	55135835		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135835A>G	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.476A>G	11.37:g.55135835A>G	ENSP00000325065:p.His159Arg						p.H159R	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	476	+			159			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.476A>G	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	A	6.366	0.435708	0.12104	.	.	ENSG00000181958	ENST00000314706	T	0.01152	5.26	3.48	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.277119	0.25975	N	0.027111	T	0.01320	0.0043	L	0.39326	1.205	0.20563	N	0.999882	B	0.19706	0.038	B	0.26614	0.071	T	0.44982	-0.9292	10	0.45353	T	0.12	.	6.9792	0.24694	0.8815:0.0:0.1185:0.0	.	159	Q8NGL6	O4A15_HUMAN	R	159	ENSP00000325065:H159R	ENSP00000325065:H159R	H	+	2	0	OR4A15	54892411	0.000000	0.05858	0.004000	0.12327	0.192000	0.23643	-0.158000	0.10070	0.398000	0.25338	0.403000	0.27427	CAT		PASS	0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		18	308	18	308	---	---	---	---
OR4C15	81309	broad.mit.edu	37	11	55321947	55321947	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:55321947G>T	ENST00000314644.2	+	1	165	c.165G>T	c.(163-165)atG>atT	p.M55I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M55I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGGGAAACATGCAAAACCAAA	0.363										HNSCC(20;0.049)																												uc010rig.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(163-165)ATG>ATT		olfactory receptor, family 4, subfamily C,							146.0	151.0	149.0					11																	55321947		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55321947G>T	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.165G>T	11.37:g.55321947G>T	ENSP00000324958:p.Met55Ile	HNSCC(20;0.049)					p.M55I	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	165	+			1			Extracellular (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.165G>T	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.526606	0.44969	.	.	ENSG00000181939	ENST00000314644	T	0.01203	5.18	4.97	4.97	0.65823	.	.	.	.	.	T	0.05960	0.0155	.	.	.	0.29288	N	0.869575	D	0.71674	0.998	D	0.81914	0.995	T	0.01604	-1.1314	8	0.87932	D	0	.	13.5886	0.61946	0.0:0.0:1.0:0.0	.	1	Q8NGM1	OR4CF_HUMAN	I	55	ENSP00000324958:M55I	ENSP00000324958:M55I	M	+	3	0	OR4C15	55078523	0.010000	0.17322	0.998000	0.56505	0.223000	0.24884	0.603000	0.24149	2.591000	0.87537	0.385000	0.25706	ATG		PASS	0.363	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		70	171	70	171	---	---	---	---
OR8K5	219453	broad.mit.edu	37	11	55927225	55927225	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:55927225G>C	ENST00000313447.1	-	1	568	c.569C>G	c.(568-570)tCa>tGa	p.S190*		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	190						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S190*(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				CTGTGCATTTGAGCAAAGCAT	0.338																																						uc010rja.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(568-570)TCA>TGA		olfactory receptor, family 8, subfamily K,							85.0	87.0	86.0					11																	55927225		2201	4296	6497	SO:0001587	stop_gained	219453				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55927225G>C	BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.569C>G	11.37:g.55927225G>C	ENSP00000323853:p.Ser190*						p.S190*	NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN			1	569	-	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)	190			Extracellular (Potential).		Q6IFB5	Nonsense_Mutation	SNP	ENST00000313447.1	37	c.569C>G	CCDS31521.1	.	.	.	.	.	.	.	.	.	.	G	18.40	3.614703	0.66672	.	.	ENSG00000181752	ENST00000313447	.	.	.	4.07	4.07	0.47477	.	0.000000	0.47852	D	0.000206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.7317	0.69386	0.0:0.0:1.0:0.0	.	.	.	.	X	190	.	ENSP00000323853:S190X	S	-	2	0	OR8K5	55683801	0.404000	0.25328	0.808000	0.32385	0.862000	0.49288	4.294000	0.59043	2.251000	0.74343	0.567000	0.79289	TCA		PASS	0.338	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391543.1	NM_001004058		50	80	50	80	---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56510514	56510514	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:56510514G>T	ENST00000302957.3	-	1	773	c.774C>A	c.(772-774)tcC>tcA	p.S258S		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S258S(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGATGAGGTGGGAAGCACAGG	0.468																																						uc010rjo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(772-774)TCC>TCA		olfactory receptor, family 9, subfamily G,							174.0	138.0	150.0					11																	56510514		2201	4296	6497	SO:0001819	synonymous_variant	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510514G>T	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.774C>A	11.37:g.56510514G>T							p.S258S	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	774	-			258			Helical; Name=6; (Potential).		Q6IF62|Q96RA9	Silent	SNP	ENST00000302957.3	37	c.774C>A	CCDS31537.1																																																																																				PASS	0.468	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		45	90	45	90	---	---	---	---
OR9I1	219954	broad.mit.edu	37	11	57886368	57886368	+	Silent	SNP	G	G	T	rs138832584		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:57886368G>T	ENST00000302610.1	-	1	548	c.549C>A	c.(547-549)ccC>ccA	p.P183P	OR9Q1_ENST00000335397.3_Intron	NM_001005211.1	NP_001005211.1	Q8NGQ6	OR9I1_HUMAN	olfactory receptor, family 9, subfamily I, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183P(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				GCTTCAGCAGGGGTGGGAGGT	0.483																																						uc001nml.1																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(547-549)CCC>CCA		olfactory receptor, family 9, subfamily I,		G		0,4402		0,0,2201	72.0	69.0	70.0		549	-5.3	0.8	11	dbSNP_134	70	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR9I1	NM_001005211.1		0,1,6496	TT,TG,GG		0.0116,0.0,0.0077		183/315	57886368	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	219954				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57886368G>T	AB065733	CCDS31542.1	11q12.1	2012-08-09			ENSG00000172377	ENSG00000172377		"""GPCR / Class A : Olfactory receptors"""	14718	protein-coding gene	gene with protein product							Standard	NM_001005211		Approved		uc021qjl.1	Q8NGQ6	OTTHUMG00000167404	ENST00000302610.1:c.549C>A	11.37:g.57886368G>T						OR9Q1_uc001nmj.2_Intron	p.P183P	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN			1	549	-		Breast(21;0.0589)	183			Extracellular (Potential).		Q6IFH0|Q96RA8	Silent	SNP	ENST00000302610.1	37	c.549C>A	CCDS31542.1																																																																																				PASS	0.483	OR9I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394539.1	NM_001005211		28	50	28	50	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58189970	58189970	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:58189970G>A	ENST00000302581.2	-	1	816	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F255F(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCAAGTAGATGAAGATTACTG	0.488																																						uc010rkg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(763-765)TTC>TTT		olfactory receptor, family 5, subfamily B,							114.0	103.0	107.0					11																	58189970		2201	4295	6496	SO:0001819	synonymous_variant	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58189970G>A	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.765C>T	11.37:g.58189970G>A							p.F255F	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	765	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	255			Helical; Name=6; (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Silent	SNP	ENST00000302581.2	37	c.765C>T	CCDS31550.1																																																																																				PASS	0.488	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		20	60	20	60	---	---	---	---
CD5	921	broad.mit.edu	37	11	60886821	60886821	+	Silent	SNP	C	C	A	rs376679823		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:60886821C>A	ENST00000347785.3	+	5	745	c.579C>A	c.(577-579)acC>acA	p.T193T		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	193	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.T193T(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGGACAAGACCCAGGACCTGG	0.622																																						uc009ynk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(577-579)ACC>ACA		CD5 molecule precursor							70.0	73.0	72.0					11																	60886821		2203	4299	6502	SO:0001819	synonymous_variant	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60886821C>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.579C>A	11.37:g.60886821C>A							p.T193T	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	5	682	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	193			Extracellular (Potential).|SRCR 2.		A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	37	c.579C>A	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.873164	0.33069	.	.	ENSG00000110448	ENST00000544014	T	0.03468	3.92	5.4	4.46	0.54185	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.23716	N	0.997035	.	.	.	.	.	.	T	0.10132	-1.0643	6	0.87932	D	0	0.0658	11.9876	0.53157	0.0:0.8253:0.1747:0.0	.	.	.	.	H	162	ENSP00000440899:P162H	ENSP00000440899:P162H	P	+	2	0	CD5	60643397	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	1.381000	0.34362	1.225000	0.43566	0.609000	0.83330	CCC		PASS	0.622	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		38	97	38	97	---	---	---	---
CD5	921	broad.mit.edu	37	11	60893276	60893276	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:60893276A>G	ENST00000347785.3	+	10	1619	c.1453A>G	c.(1453-1455)Agt>Ggt	p.S485G		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	485					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.S485G(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTCCTCCGACAGTGACTATGA	0.602																																						uc009ynk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1453-1455)AGT>GGT		CD5 molecule precursor							81.0	80.0	81.0					11																	60893276		2203	4299	6502	SO:0001583	missense	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60893276A>G	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.1453A>G	11.37:g.60893276A>G	ENSP00000342681:p.Ser485Gly						p.S485G	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	10	1556	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	485			Cytoplasmic (Potential).		A0N0P4|A8K9I3	Missense_Mutation	SNP	ENST00000347785.3	37	c.1453A>G	CCDS8000.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.758895	0.49468	.	.	ENSG00000110448	ENST00000347785	T	0.33654	1.4	4.88	4.88	0.63580	.	0.000000	0.64402	D	0.000011	T	0.48429	0.1499	L	0.34521	1.04	0.41678	D	0.989275	D	0.89917	1.0	D	0.83275	0.996	T	0.52268	-0.8598	10	0.87932	D	0	-19.3998	13.0506	0.58952	1.0:0.0:0.0:0.0	.	485	P06127	CD5_HUMAN	G	485	ENSP00000342681:S485G	ENSP00000342681:S485G	S	+	1	0	CD5	60649852	1.000000	0.71417	0.994000	0.49952	0.072000	0.16883	5.508000	0.67006	1.824000	0.53156	0.260000	0.18958	AGT		PASS	0.602	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2	NM_014207		18	32	18	32	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62293633	62293633	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:62293633T>A	ENST00000378024.4	-	5	8530	c.8256A>T	c.(8254-8256)gcA>gcT	p.A2752A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2752					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.A2752A(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAACATCAGGTGCGTCAATGT	0.498																																						uc001ntl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(8254-8256)GCA>GCT		AHNAK nucleoprotein isoform 1							200.0	195.0	197.0					11																	62293633		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62293633T>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8256A>T	11.37:g.62293633T>A						AHNAK_uc001ntk.1_Intron	p.A2752A	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	8556	-		Melanoma(852;0.155)	2752					A1A586	Silent	SNP	ENST00000378024.4	37	c.8256A>T	CCDS31584.1																																																																																				PASS	0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		118	197	118	197	---	---	---	---
SLC3A2	6520	broad.mit.edu	37	11	62653041	62653041	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:62653041G>A	ENST00000377890.2	+	10	1575	c.1407G>A	c.(1405-1407)ggG>ggA	p.G469G	SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377889.2_Silent_p.G407G|SLC3A2_ENST00000535296.1_Silent_p.G438G|SLC3A2_ENST00000377891.2_Silent_p.G470G|SLC3A2_ENST00000377892.1_Silent_p.G500G|SLC3A2_ENST00000338663.7_Silent_p.G368G|SLC3A2_ENST00000536981.1_Silent_p.G14G	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	469					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)	p.G500G(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						TCAGCTACGGGGATGAGATTG	0.532																																						uc001nwd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1405-1407)GGG>GGA		solute carrier family 3, member 2 isoform c							230.0	227.0	228.0					11																	62653041		2201	4298	6499	SO:0001819	synonymous_variant	6520				blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	g.chr11:62653041G>A		CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.1407G>A	11.37:g.62653041G>A						SLC3A2_uc001nwb.2_Silent_p.G500G|SLC3A2_uc001nwc.2_Silent_p.G470G|SLC3A2_uc001nwe.2_Silent_p.G438G|SLC3A2_uc001nwf.2_Silent_p.G407G|SLC3A2_uc001nwg.2_Silent_p.G368G	p.G469G	NM_002394	NP_002385	P08195	4F2_HUMAN			10	1631	+			469			Extracellular (Potential).		Q13543	Silent	SNP	ENST00000377890.2	37	c.1407G>A	CCDS8039.2	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322876	0.23994	.	.	ENSG00000168003	ENST00000539507	D	0.99871	-7.35	4.94	-2.38	0.06622	.	0.000000	0.85682	D	0.000000	D	0.99411	0.9792	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.96897	0.9657	7	0.87932	D	0	-18.8013	1.7149	0.02899	0.3399:0.1266:0.4042:0.1294	.	.	.	.	R	96	ENSP00000440819:G96R	ENSP00000440819:G96R	G	+	1	0	SLC3A2	62409617	0.623000	0.27094	0.945000	0.38365	0.904000	0.53231	-0.348000	0.07740	-0.896000	0.03915	0.305000	0.20034	GGA		PASS	0.532	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157306.1	NM_001012661		142	373	142	373	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65384478	65384478	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:65384478C>A	ENST00000355703.3	+	2	876	c.337C>A	c.(337-339)Ccc>Acc	p.P113T	MAP3K11_ENST00000309100.3_5'Flank	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	113						integral component of membrane (GO:0016021)		p.P113T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGCAATCCACCCAGGTGGGT	0.617																																						uc001oey.2																			1	Substitution - Missense(1)		lung(1)		0						c.(337-339)CCC>ACC		pecanex-like 3							17.0	17.0	17.0					11																	65384478		1880	4098	5978	SO:0001583	missense	399909					integral to membrane		g.chr11:65384478C>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.337C>A	11.37:g.65384478C>A	ENSP00000347931:p.Pro113Thr					MAP3K11_uc001oew.2_5'Flank	p.P113T	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			2	337	+			113					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.337C>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.614100	0.28712	.	.	ENSG00000197136	ENST00000355703	T	0.61158	0.13	4.27	3.35	0.38373	.	.	.	.	.	T	0.47783	0.1464	L	0.46157	1.445	0.29630	N	0.845489	B	0.12013	0.005	B	0.12156	0.007	T	0.40924	-0.9537	9	0.20519	T	0.43	.	10.307	0.43687	0.0:0.8003:0.1997:0.0	.	113	Q9H6A9	PCX3_HUMAN	T	113	ENSP00000347931:P113T	ENSP00000347931:P113T	P	+	1	0	PCNXL3	65141054	0.912000	0.30974	0.789000	0.31954	0.541000	0.35023	1.574000	0.36482	1.150000	0.42419	0.561000	0.74099	CCC		PASS	0.617	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		9	15	9	15	---	---	---	---
NDUFS8	4728	broad.mit.edu	37	11	67799650	67799650	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:67799650G>A	ENST00000313468.5	+	2	139	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	RP5-901A4.1_ENST00000532296.1_RNA|MIR4691_ENST00000583764.1_RNA|NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	11					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.R11Q(1)		endometrium(1)|kidney(1)|lung(5)|skin(1)	8						ATGCTGCTGCGGGCCCTGGCC	0.607																																					Colon(116;1205 2770 20054)	uc001onc.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(31-33)CGG>CAG		NADH dehydrogenase ubiquinone Fe-S 8 precursor	NADH(DB00157)						102.0	97.0	99.0					11																	67799650		2200	4294	6494	SO:0001583	missense	4728				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity	g.chr11:67799650G>A	U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331	ENST00000313468.5:c.32G>A	11.37:g.67799650G>A	ENSP00000315774:p.Arg11Gln					NDUFS8_uc010rpz.1_Missense_Mutation_p.R11Q|NDUFS8_uc009ysb.1_Intron|NDUFS8_uc009ysc.1_Missense_Mutation_p.R11Q	p.R11Q	NM_002496	NP_002487	O00217	NDUS8_HUMAN			2	139	+			11					B2RB86|Q0VDA8	Missense_Mutation	SNP	ENST00000313468.5	37	c.32G>A	CCDS8176.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.647307	0.47258	.	.	ENSG00000110717	ENST00000313468;ENST00000453471;ENST00000526339;ENST00000525628	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.93657	0.7974	L	0.38953	1.18	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.995	D;P;P	0.66847	0.947;0.559;0.457	D	0.91868	0.5505	10	0.26408	T	0.33	.	14.2087	0.65750	0.0:0.0:1.0:0.0	.	11;11;11	B4DYI3;E9PPW7;O00217	.;.;NDUS8_HUMAN	Q	11	ENSP00000315774:R11Q;ENSP00000403972:R11Q;ENSP00000436287:R11Q;ENSP00000432968:R11Q	ENSP00000315774:R11Q	R	+	2	0	NDUFS8	67556226	1.000000	0.71417	0.995000	0.50966	0.762000	0.43233	4.694000	0.61760	2.356000	0.79943	0.655000	0.94253	CGG		PASS	0.607	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496		26	269	26	269	---	---	---	---
PPFIA1	8500	broad.mit.edu	37	11	70172916	70172916	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:70172916G>A	ENST00000253925.7	+	7	1137	c.922G>A	c.(922-924)Gtc>Atc	p.V308I	AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.V308I|CTA-797E19.2_ENST00000526017.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	308					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)	p.V308I(1)		breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCAACGAGATGTCCGTGAAGT	0.373																																						uc001opo.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(922-924)GTC>ATC		PTPRF interacting protein alpha 1 isoform b							100.0	96.0	97.0					11																	70172916		2200	4294	6494	SO:0001583	missense	8500				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity	g.chr11:70172916G>A	U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.922G>A	11.37:g.70172916G>A	ENSP00000253925:p.Val308Ile					PPFIA1_uc001opn.1_Missense_Mutation_p.V308I|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	p.V308I	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)		7	1120	+			308			Potential.		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	ENST00000253925.7	37	c.922G>A	CCDS31627.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496315	0.26861	.	.	ENSG00000131626	ENST00000253925;ENST00000389547	T;T	0.78364	-1.17;-1.17	4.58	3.64	0.41730	.	0.086499	0.47455	U	0.000221	T	0.57227	0.2039	N	0.04508	-0.205	0.31716	N	0.638908	B;B	0.15473	0.006;0.013	B;B	0.19946	0.027;0.013	T	0.55780	-0.8087	10	0.24483	T	0.36	.	13.9504	0.64113	0.0:0.153:0.847:0.0	.	308;308	Q13136;Q13136-2	LIPA1_HUMAN;.	I	308	ENSP00000253925:V308I;ENSP00000374198:V308I	ENSP00000253925:V308I	V	+	1	0	PPFIA1	69850564	0.999000	0.42202	0.081000	0.20488	0.820000	0.46376	3.079000	0.50104	1.037000	0.40024	0.655000	0.94253	GTC		PASS	0.373	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1	NM_003626		39	70	39	70	---	---	---	---
NUMA1	4926	broad.mit.edu	37	11	71730594	71730594	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:71730594C>T	ENST00000393695.3	-	9	861	c.530G>A	c.(529-531)aGg>aAg	p.R177K	NUMA1_ENST00000358965.6_Missense_Mutation_p.R177K|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.R177K	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1									p.R177K(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCGAATCTCCCTCTTGGCCTG	0.522			T	RARA	APL																																	uc001orl.1				Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(529-531)AGG>AAG		nuclear mitotic apparatus protein 1							137.0	119.0	125.0					11																	71730594		2200	4293	6493	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71730594C>T	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.530G>A	11.37:g.71730594C>T	ENSP00000377298:p.Arg177Lys					NUMA1_uc001ork.1_Missense_Mutation_p.R177K|NUMA1_uc001orm.1_Missense_Mutation_p.R177K|NUMA1_uc009ysx.1_Missense_Mutation_p.R177K|NUMA1_uc001oro.1_Missense_Mutation_p.R177K|NUMA1_uc009ysy.1_Missense_Mutation_p.R177K|NUMA1_uc001orp.2_Missense_Mutation_p.R177K|NUMA1_uc001orq.2_Missense_Mutation_p.R177K	p.R177K	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			9	702	-			177						Missense_Mutation	SNP	ENST00000393695.3	37	c.530G>A	CCDS31633.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983532	0.35036	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000542977;ENST00000537217;ENST00000544238;ENST00000543937	T;T;T;T;T	0.44083	2.24;2.74;2.74;1.51;0.93	5.89	1.24	0.21308	.	0.344840	0.30311	N	0.009903	T	0.22166	0.0534	L	0.27053	0.805	0.25813	N	0.984377	B;B;B;B;B;B	0.09022	0.002;0.001;0.001;0.0;0.001;0.0	B;B;B;B;B;B	0.08055	0.002;0.003;0.003;0.002;0.001;0.001	T	0.29701	-1.0003	10	0.02654	T	1	.	9.2387	0.37481	0.0:0.6183:0.0:0.3817	.	177;177;177;177;177;177	F5H6Y5;F5H4J1;A8K394;Q14980-2;Q14980;Q9BTE9	.;.;.;.;NUMA1_HUMAN;.	K	177	ENSP00000260051:R177K;ENSP00000351851:R177K;ENSP00000377298:R177K;ENSP00000444880:R177K;ENSP00000442936:R177K	ENSP00000260051:R177K	R	-	2	0	NUMA1	71408242	0.963000	0.33076	1.000000	0.80357	0.947000	0.59692	-0.006000	0.12833	0.345000	0.23873	0.561000	0.74099	AGG		PASS	0.522	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1			4	189	4	189	---	---	---	---
DNAJB13	374407	broad.mit.edu	37	11	73670544	73670544	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:73670544A>T	ENST00000339764.1	+	3	929	c.178A>T	c.(178-180)Aag>Tag	p.K60*		NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	60	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)			p.K60*(1)		large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					CACAGCCATGAAGAGAGGCAT	0.547																																						uc001ouo.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(178-180)AAG>TAG		testis spermatogenesis apoptosis-related protein							77.0	69.0	72.0					11																	73670544		2200	4293	6493	SO:0001587	stop_gained	374407				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	g.chr11:73670544A>T	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.178A>T	11.37:g.73670544A>T	ENSP00000344431:p.Lys60*						p.K60*	NM_153614	NP_705842	P59910	DJB13_HUMAN			3	929	+	Breast(11;7.42e-05)		60			J.		B3LEP4|Q8IZW5	Nonsense_Mutation	SNP	ENST00000339764.1	37	c.178A>T	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	a	42	9.791157	0.99264	.	.	ENSG00000187726	ENST00000339764	.	.	.	5.88	5.88	0.94601	.	0.041776	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3001	0.66341	1.0:0.0:0.0:0.0	.	.	.	.	X	60	.	ENSP00000344431:K60X	K	+	1	0	DNAJB13	73348192	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.641000	0.91032	2.257000	0.74773	0.525000	0.51046	AAG		PASS	0.547	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		26	48	26	48	---	---	---	---
PGM2L1	283209	broad.mit.edu	37	11	74053659	74053659	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:74053659C>G	ENST00000298198.4	-	12	1790	c.1479G>C	c.(1477-1479)ttG>ttC	p.L493F		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	493					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)	p.L493F(1)		NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					GTTCATAACACAAGAAATAGG	0.279																																						uc001ovb.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1477-1479)TTG>TTC		phosphoglucomutase 2-like 1							75.0	86.0	82.0					11																	74053659		2200	4291	6491	SO:0001583	missense	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74053659C>G	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.1479G>C	11.37:g.74053659C>G	ENSP00000298198:p.Leu493Phe						p.L493F	NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN			12	1775	-	Breast(11;3.32e-06)		493					Q96MQ7|Q9UIK3	Missense_Mutation	SNP	ENST00000298198.4	37	c.1479G>C	CCDS8231.1	.	.	.	.	.	.	.	.	.	.	C	7.503	0.653058	0.14580	.	.	ENSG00000165434	ENST00000298198	T	0.18016	2.24	5.9	-3.55	0.04639	.	0.078866	0.48286	D	0.000189	T	0.10078	0.0247	N	0.21282	0.65	0.43084	D	0.994742	B	0.09022	0.002	B	0.10450	0.005	T	0.17623	-1.0363	10	0.22706	T	0.39	-1.8193	14.8851	0.70560	0.0:0.4952:0.0:0.5048	.	493	Q6PCE3	PGM2L_HUMAN	F	493	ENSP00000298198:L493F	ENSP00000298198:L493F	L	-	3	2	PGM2L1	73731307	0.831000	0.29352	0.847000	0.33407	0.647000	0.38526	-0.145000	0.10265	-0.886000	0.03966	-2.010000	0.00438	TTG		PASS	0.279	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		56	125	56	125	---	---	---	---
PRKRIR	5612	broad.mit.edu	37	11	76063707	76063707	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:76063707T>C	ENST00000260045.3	-	5	592	c.487A>G	c.(487-489)Aaa>Gaa	p.K163E	PRKRIR_ENST00000531878.1_5'Flank	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	163					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K163E(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						AGGTATTCTTTGTTTTCCTTC	0.408																																						uc001oxh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(487-489)AAA>GAA		protein-kinase, interferon-inducible double							39.0	35.0	36.0					11																	76063707		2200	4292	6492	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063707T>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.487A>G	11.37:g.76063707T>C	ENSP00000260045:p.Lys163Glu					PRKRIR_uc010rrz.1_5'UTR	p.K163E	NM_004705	NP_004696	O43422	P52K_HUMAN			5	487	-			163					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.487A>G	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995465	0.54147	.	.	ENSG00000137492	ENST00000260045	.	.	.	4.99	4.99	0.66335	.	0.042574	0.85682	D	0.000000	T	0.74558	0.3732	L	0.57536	1.79	0.47276	D	0.999375	D	0.67145	0.996	D	0.69654	0.965	T	0.76077	-0.3091	9	0.51188	T	0.08	.	15.0229	0.71643	0.0:0.0:0.0:1.0	.	163	O43422	P52K_HUMAN	E	163	.	ENSP00000260045:K163E	K	-	1	0	PRKRIR	75741355	1.000000	0.71417	0.999000	0.59377	0.962000	0.63368	3.009000	0.49552	2.026000	0.59711	0.477000	0.44152	AAA		PASS	0.408	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		21	52	21	52	---	---	---	---
PRKRIR	5612	broad.mit.edu	37	11	76063827	76063827	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:76063827A>C	ENST00000260045.3	-	5	472	c.367T>G	c.(367-369)Tct>Gct	p.S123A	PRKRIR_ENST00000531878.1_5'UTR	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)	123					negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S123A(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TCCTGCTCAGAAGTTTCATCA	0.338																																						uc001oxh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(367-369)TCT>GCT		protein-kinase, interferon-inducible double							18.0	18.0	18.0					11																	76063827		2120	4244	6364	SO:0001583	missense	5612				negative regulation of cell proliferation|response to stress|signal transduction		DNA binding|metal ion binding|protein dimerization activity	g.chr11:76063827A>C	AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280	ENST00000260045.3:c.367T>G	11.37:g.76063827A>C	ENSP00000260045:p.Ser123Ala					PRKRIR_uc010rrz.1_5'UTR	p.S123A	NM_004705	NP_004696	O43422	P52K_HUMAN			5	367	-			123					A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Missense_Mutation	SNP	ENST00000260045.3	37	c.367T>G	CCDS8243.1	.	.	.	.	.	.	.	.	.	.	A	6.615	0.481862	0.12581	.	.	ENSG00000137492	ENST00000260045	.	.	.	4.99	3.85	0.44370	.	0.576077	0.19993	N	0.101510	T	0.20292	0.0488	N	0.19112	0.55	0.28080	N	0.93222	B	0.11235	0.004	B	0.09377	0.004	T	0.27571	-1.0070	9	0.05525	T	0.97	.	5.7924	0.18367	0.7716:0.0:0.0794:0.1491	.	123	O43422	P52K_HUMAN	A	123	.	ENSP00000260045:S123A	S	-	1	0	PRKRIR	75741475	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.053000	0.41326	2.026000	0.59711	0.477000	0.44152	TCT		PASS	0.338	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383188.1	NM_004705		11	35	11	35	---	---	---	---
PCF11	51585	broad.mit.edu	37	11	82893032	82893032	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:82893032G>C	ENST00000298281.4	+	13	4756	c.4304G>C	c.(4303-4305)gGa>gCa	p.G1435A	RP11-727A23.4_ENST00000528133.1_RNA	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1435					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.G1435A(1)|p.G1534A(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GTACCTGCTGGACCAGCTGGA	0.428																																						uc001ozx.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4303-4305)GGA>GCA		pre-mRNA cleavage complex II protein Pcf11							71.0	76.0	75.0					11																	82893032		1886	4124	6010	SO:0001583	missense	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82893032G>C	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.4304G>C	11.37:g.82893032G>C	ENSP00000298281:p.Gly1435Ala						p.G1435A	NM_015885	NP_056969	O94913	PCF11_HUMAN			13	4649	+			1435					A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	c.4304G>C	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304587	0.60305	.	.	ENSG00000165494	ENST00000298281	T	0.23552	1.9	5.61	5.61	0.85477	.	0.000000	0.51477	D	0.000091	T	0.38081	0.1027	N	0.19112	0.55	0.47511	D	0.99944	D	0.76494	0.999	D	0.83275	0.996	T	0.11743	-1.0575	9	.	.	.	-14.6387	19.6505	0.95798	0.0:0.0:1.0:0.0	.	1435	O94913	PCF11_HUMAN	A	1435	ENSP00000298281:G1435A	.	G	+	2	0	PCF11	82570680	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.325000	0.96381	2.635000	0.89317	0.563000	0.77884	GGA		PASS	0.428	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		10	30	10	30	---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83173090	83173090	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:83173090C>T	ENST00000532653.1	-	22	2709	c.2407G>A	c.(2407-2409)Gat>Aat	p.D803N	DLG2_ENST00000376104.2_Missense_Mutation_p.D926N|DLG2_ENST00000537455.1_Missense_Mutation_p.D571N|DLG2_ENST00000531015.1_Missense_Mutation_p.D788N|DLG2_ENST00000543673.1_Missense_Mutation_p.D926N|DLG2_ENST00000280241.8_Missense_Mutation_p.D860N|DLG2_ENST00000524982.1_Missense_Mutation_p.D817N|DLG2_ENST00000426717.2_Missense_Mutation_p.D285N|DLG2_ENST00000376106.3_Missense_Mutation_p.D285N|DLG2_ENST00000404783.3_Missense_Mutation_p.D299N|DLG2_ENST00000398309.2_Missense_Mutation_p.D821N|DLG2_ENST00000330014.6_Missense_Mutation_p.D742N|DLG2_ENST00000418306.2_Missense_Mutation_p.D700N			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	527					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)	p.D860N(1)|p.D926N(1)|p.D700N(1)|p.D821N(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)				ATTGCTCGATCATAGGTTTTC	0.363																																						uc001paj.2																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|skin(1)	6						c.(2461-2463)GAT>AAT		chapsyn-110 isoform 2							172.0	163.0	166.0					11																	83173090		1879	4141	6020	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83173090C>T	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.2407G>A	11.37:g.83173090C>T	ENSP00000435849:p.Asp803Asn					DLG2_uc001pai.2_Missense_Mutation_p.D700N|DLG2_uc010rsy.1_Missense_Mutation_p.D770N|DLG2_uc010rsz.1_Missense_Mutation_p.D817N|DLG2_uc010rta.1_Missense_Mutation_p.D803N|DLG2_uc001pak.2_Missense_Mutation_p.D926N|DLG2_uc010rtb.1_Missense_Mutation_p.D788N|DLG2_uc010rsw.1_Missense_Mutation_p.D285N|DLG2_uc010rsx.1_Missense_Mutation_p.D298N	p.D821N	NM_001364	NP_001355	Q15700	DLG2_HUMAN			22	2764	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	821			Guanylate kinase-like.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.2461G>A		.	.	.	.	.	.	.	.	.	.	C	24.3	4.520203	0.85495	.	.	ENSG00000150672	ENST00000398309;ENST00000426717;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000404783;ENST00000330014;ENST00000537455;ENST00000376106;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015	T;T;T;T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.01	5.01	0.66863	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.000000	0.64402	D	0.000002	T	0.54598	0.1868	L	0.33753	1.03	0.58432	D	0.999999	D;B;B;B;B;B;P;P	0.89917	1.0;0.29;0.006;0.154;0.134;0.223;0.831;0.813	D;B;B;B;B;B;P;P	0.91635	0.999;0.353;0.043;0.263;0.141;0.084;0.555;0.76	T	0.49466	-0.8937	9	.	.	.	.	18.5143	0.90930	0.0:1.0:0.0:0.0	.	788;803;817;742;299;926;821;700	E9PIW2;B7Z2T4;E9PN83;B7Z264;B5MCC5;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	N	821;285;926;700;926;860;299;742;571;285;817;803;926;788	ENSP00000381355:D821N;ENSP00000393049:D285N;ENSP00000365272:D926N;ENSP00000402275:D700N;ENSP00000441994:D926N;ENSP00000280241:D860N;ENSP00000385113:D299N;ENSP00000381353:D742N;ENSP00000443248:D571N;ENSP00000365274:D285N;ENSP00000432894:D817N;ENSP00000435849:D803N;ENSP00000433848:D788N	.	D	-	1	0	DLG2	82850738	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.320000	0.79064	2.606000	0.88127	0.655000	0.94253	GAT		PASS	0.363	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		34	108	34	108	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95712854	95712854	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:95712854C>A	ENST00000524717.1	-	5	4013	c.2729G>T	c.(2728-2730)cGg>cTg	p.R910L		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	910					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.R910L(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				GGTAGGTGGCCGTGGCATCAT	0.403			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	1	Substitution - Missense(1)		lung(1)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(2728-2730)CGG>CTG		mastermind-like 2							239.0	218.0	225.0					11																	95712854		1912	4127	6039	SO:0001583	missense	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95712854C>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2729G>T	11.37:g.95712854C>A	ENSP00000434552:p.Arg910Leu						p.R910L	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			5	4014	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	910					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	c.2729G>T	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	17.67	3.446076	0.63178	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.56941	0.43;0.43	5.15	4.24	0.50183	.	0.000000	0.56097	D	0.000034	T	0.59838	0.2223	L	0.47190	1.495	0.40434	D	0.979974	D	0.64830	0.994	P	0.60415	0.874	T	0.61549	-0.7040	10	0.49607	T	0.09	-33.3724	11.0051	0.47629	0.0:0.8486:0.0:0.1514	.	910	Q8IZL2	MAML2_HUMAN	L	910	ENSP00000434552:R910L;ENSP00000412394:R910L	ENSP00000412394:R910L	R	-	2	0	MAML2	95352502	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	4.183000	0.58317	1.304000	0.44892	0.561000	0.74099	CGG		PASS	0.403	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			59	103	59	103	---	---	---	---
KIAA1377	57562	broad.mit.edu	37	11	101834490	101834490	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:101834490C>T	ENST00000263468.8	+	6	2994	c.2724C>T	c.(2722-2724)acC>acT	p.T908T	KIAA1377_ENST00000537689.1_Silent_p.T709T	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	908								p.T908T(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)		TATATTGCACCCAAAGAAGTC	0.418																																						uc001pgm.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2722-2724)ACC>ACT		hypothetical protein LOC57562							90.0	94.0	93.0					11																	101834490		2203	4299	6502	SO:0001819	synonymous_variant	57562						protein binding	g.chr11:101834490C>T	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.2724C>T	11.37:g.101834490C>T						KIAA1377_uc001pgn.2_Silent_p.T864T|KIAA1377_uc010run.1_Silent_p.T709T|KIAA1377_uc009yxa.1_Silent_p.T709T	p.T908T	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	6	2994	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	908					Q4G0U6	Silent	SNP	ENST00000263468.8	37	c.2724C>T	CCDS31658.1																																																																																				PASS	0.418	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		75	143	75	143	---	---	---	---
KBTBD3	143879	broad.mit.edu	37	11	105924568	105924568	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:105924568C>A	ENST00000526793.1	-	3	1007	c.848G>T	c.(847-849)gGa>gTa	p.G283V	KBTBD3_ENST00000531837.1_Missense_Mutation_p.G283V|KBTBD3_ENST00000534815.1_Missense_Mutation_p.G204V	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	279								p.G283V(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		AGGGAAGAGTCCACCAGAACC	0.368																																						uc001pja.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(847-849)GGA>GTA		BTB and kelch domain containing 3							120.0	107.0	111.0					11																	105924568		2200	4296	6496	SO:0001583	missense	143879							g.chr11:105924568C>A	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.848G>T	11.37:g.105924568C>A	ENSP00000436262:p.Gly283Val					KBTBD3_uc001pjb.2_Missense_Mutation_p.G283V|KBTBD3_uc009yxm.2_Missense_Mutation_p.G204V	p.G283V	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)	4	1488	-		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)	279					Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	37	c.848G>T	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.556103	0.65425	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.66815	-0.11;-0.23;-0.23	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69098	-0.5235	10	0.27785	T	0.31	.	19.6536	0.95828	0.0:1.0:0.0:0.0	.	283;279	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	V	204;283;283	ENSP00000431910:G204V;ENSP00000436262:G283V;ENSP00000432163:G283V	ENSP00000436262:G283V	G	-	2	0	KBTBD3	105429778	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.153000	0.77428	2.652000	0.90054	0.585000	0.79938	GGA		PASS	0.368	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433		38	69	38	69	---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113283468	113283468	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:113283468G>T	ENST00000362072.3	-	7	1292	c.948C>A	c.(946-948)caC>caA	p.H316Q	DRD2_ENST00000538967.1_Missense_Mutation_p.H318Q|DRD2_ENST00000544518.1_Missense_Mutation_p.H315Q|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.H287Q|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.H316Q|DRD2_ENST00000355319.2_Missense_Mutation_p.H318Q	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	316	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.H316Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGGGAGTGCTGTGGAGACCAT	0.617																																						uc001pnz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(946-948)CAC>CAA		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						109.0	93.0	99.0					11																	113283468		2201	4296	6497	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113283468G>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.948C>A	11.37:g.113283468G>T	ENSP00000354859:p.His316Gln					DRD2_uc010rwv.1_Missense_Mutation_p.H315Q|DRD2_uc001poa.3_Missense_Mutation_p.H316Q|DRD2_uc001pob.3_Missense_Mutation_p.H287Q	p.H316Q	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	6	1269	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	316			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.948C>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312687	0.23908	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.71817	-0.56;-0.59;-0.56;-0.6;-0.56;-0.56	5.73	2.38	0.29361	GPCR, rhodopsin-like superfamily (1);	0.220719	0.45867	D	0.000323	T	0.49457	0.1558	N	0.05351	-0.065	0.31181	N	0.702062	B;B;B	0.26363	0.003;0.003;0.147	B;B;B	0.35971	0.006;0.006;0.215	T	0.49725	-0.8909	10	0.13853	T	0.58	.	9.9624	0.41704	0.3185:0.0:0.6815:0.0	.	315;287;316	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	Q	318;287;316;315;316;318	ENSP00000347474:H318Q;ENSP00000278597:H287Q;ENSP00000354859:H316Q;ENSP00000441068:H315Q;ENSP00000442172:H316Q;ENSP00000438215:H318Q	ENSP00000278597:H287Q	H	-	3	2	DRD2	112788678	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.611000	0.46334	0.768000	0.33290	0.655000	0.94253	CAC		PASS	0.617	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		15	62	15	62	---	---	---	---
RBM7	10179	broad.mit.edu	37	11	114271399	114271399	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:114271399G>T	ENST00000540163.1	+	1	648	c.6G>T	c.(4-6)ggG>ggT	p.G2G	RP11-212D19.4_ENST00000544347.1_5'Flank|RBM7_ENST00000541475.1_Silent_p.G2G|C11orf71_ENST00000325636.4_5'Flank|RBM7_ENST00000375490.5_Silent_p.G2G|RBM7_ENST00000545678.1_5'UTR|RBM7_ENST00000544582.1_Silent_p.G2G			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	2					meiotic nuclear division (GO:0007126)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G2G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		CTGAGATGGGGGCGGCGGCGG	0.637																																						uc001pov.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(4-6)GGG>GGT		RNA binding motif protein 7							39.0	44.0	42.0					11																	114271399		2201	4296	6497	SO:0001819	synonymous_variant	10179				meiosis		nucleotide binding|protein binding|RNA binding	g.chr11:114271399G>T	AF156098	CCDS8370.1, CCDS66233.1, CCDS73395.1	11q23.1-q23.2	2013-02-12			ENSG00000076053	ENSG00000076053		"""RNA binding motif (RRM) containing"""	9904	protein-coding gene	gene with protein product		612413				12477932	Standard	NM_001286045		Approved		uc001pov.3	Q9Y580		ENST00000540163.1:c.6G>T	11.37:g.114271399G>T						C11orf71_uc001pot.1_5'Flank|C11orf71_uc001pou.3_5'Flank|RBM7_uc001pow.2_Silent_p.G2G|RBM7_uc001pox.2_5'UTR	p.G2G	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)	1	16	+		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)	2					B2R6K8|Q9NUT4	Silent	SNP	ENST00000540163.1	37	c.6G>T	CCDS8370.1																																																																																				PASS	0.637	RBM7-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399010.1	NM_016090		12	51	12	51	---	---	---	---
TMPRSS13	84000	broad.mit.edu	37	11	117784529	117784529	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:117784529A>G	ENST00000430170.2	-	5	859	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.Y258H|TMPRSS13_ENST00000528626.1_Missense_Mutation_p.Y223H|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.Y258H|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.Y258H	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	258	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Y258H(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		TTCTCTGAGTAGGAGTCATTC	0.547																																						uc001prs.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(772-774)TAC>CAC		transmembrane protease, serine 13							75.0	78.0	77.0					11																	117784529		1900	4110	6010	SO:0001583	missense	84000				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr11:117784529A>G	AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.772T>C	11.37:g.117784529A>G	ENSP00000387702:p.Tyr258His					TMPRSS13_uc009yzr.1_5'UTR|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.1_Missense_Mutation_p.Y258H	p.Y258H	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)	5	865	-	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	253			Extracellular (Potential).|SRCR.		B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Missense_Mutation	SNP	ENST00000430170.2	37	c.772T>C	CCDS58185.1	.	.	.	.	.	.	.	.	.	.	A	17.19	3.326812	0.60743	.	.	ENSG00000137747	ENST00000528626;ENST00000336500;ENST00000524993;ENST00000430170;ENST00000445164;ENST00000526090	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.69	3.46	0.39613	.	0.463335	0.20286	N	0.095354	T	0.51092	0.1654	L	0.46947	1.48	0.34677	D	0.724273	D;D	0.59767	0.986;0.975	P;P	0.57152	0.814;0.748	T	0.60244	-0.7301	10	0.51188	T	0.08	.	6.9523	0.24552	0.7305:0.187:0.0826:0.0	.	253;258	Q9BYE2-4;E9PRA0	.;.	H	223;253;258;258;258;258	ENSP00000435813:Y223H;ENSP00000434279:Y258H;ENSP00000387702:Y258H;ENSP00000394114:Y258H;ENSP00000436502:Y258H	ENSP00000337113:Y253H	Y	-	1	0	TMPRSS13	117289739	1.000000	0.71417	0.736000	0.30914	0.982000	0.71751	1.435000	0.34969	0.511000	0.28236	0.459000	0.35465	TAC		PASS	0.547	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046		47	92	47	92	---	---	---	---
SCN3B	55800	broad.mit.edu	37	11	123516382	123516382	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:123516382G>A	ENST00000392770.2	-	2	934	c.132C>T	c.(130-132)cgC>cgT	p.R44R	SCN3B_ENST00000299333.3_Silent_p.R44R|SCN3B_ENST00000530277.1_Silent_p.R44R	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	44	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R44R(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGGAGATGCAGCGCAGCTTCA	0.582																																						uc001pza.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(130-132)CGC>CGT		voltage-gated sodium channel beta-3 subunit							122.0	118.0	119.0					11																	123516382		2202	4299	6501	SO:0001819	synonymous_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516382G>A	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.132C>T	11.37:g.123516382G>A						SCN3B_uc001pzb.1_Silent_p.R44R	p.R44R	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	539	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	44			Ig-like C2-type.|Extracellular (Potential).		A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	c.132C>T	CCDS8442.1																																																																																				PASS	0.582	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		75	114	75	114	---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900798	123900798	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:123900798G>T	ENST00000431524.1	+	1	502	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V157F(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)		GCACTCTGCTGTCCAGGCCAT	0.557																																						uc001pzp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(469-471)GTC>TTC		olfactory receptor, family 10, subfamily G,							174.0	157.0	163.0					11																	123900798		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900798G>T	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.469G>T	11.37:g.123900798G>T	ENSP00000389072:p.Val157Phe						p.V157F	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	469	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	157			Helical; Name=4; (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.469G>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	3.050	-0.195655	0.06259	.	.	ENSG00000234560	ENST00000431524	T	0.38240	1.15	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.552340	0.14950	N	0.288963	T	0.18676	0.0448	N	0.16833	0.445	0.32274	N	0.56853	B	0.15473	0.013	B	0.23852	0.049	T	0.13255	-1.0516	10	0.35671	T	0.21	.	2.2953	0.04149	0.2508:0.0:0.4891:0.2601	.	157	Q8NGN5	O10G8_HUMAN	F	157	ENSP00000389072:V157F	ENSP00000389072:V157F	V	+	1	0	OR10G8	123406008	0.000000	0.05858	1.000000	0.80357	0.240000	0.25518	-0.291000	0.08343	1.684000	0.51022	0.650000	0.86243	GTC		PASS	0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		94	155	94	155	---	---	---	---
OR8D2	283160	broad.mit.edu	37	11	124189919	124189919	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:124189919C>G	ENST00000357438.2	-	1	265	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V59L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAATAATACACTGGAGGGTAA	0.433																																						uc010sah.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)|pancreas(1)	3						c.(175-177)GTG>CTG		olfactory receptor, family 8, subfamily D,							75.0	77.0	76.0					11																	124189919		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189919C>G	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.175G>C	11.37:g.124189919C>G	ENSP00000350022:p.Val59Leu						p.V59L	NM_001002918	NP_001002918	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	175	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	59			Helical; Name=2; (Potential).		B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.175G>C	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	12.59	1.983777	0.35036	.	.	ENSG00000197263	ENST00000357438	T	0.02709	4.19	3.59	2.45	0.29901	GPCR, rhodopsin-like superfamily (1);	0.102103	0.42964	D	0.000621	T	0.01940	0.0061	N	0.16833	0.445	0.23063	N	0.998354	B	0.10296	0.003	B	0.08055	0.003	T	0.43750	-0.9372	10	0.87932	D	0	.	4.4545	0.11637	0.1742:0.1038:0.0:0.7219	.	59	Q9GZM6	OR8D2_HUMAN	L	59	ENSP00000350022:V59L	ENSP00000350022:V59L	V	-	1	0	OR8D2	123695129	1.000000	0.71417	0.997000	0.53966	0.791000	0.44710	3.419000	0.52728	0.759000	0.33084	-0.488000	0.04728	GTG		PASS	0.433	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		30	78	30	78	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440378	124440378	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:124440378C>A	ENST00000284287.3	+	1	486	c.414C>A	c.(412-414)gaC>gaA	p.D138E		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	138					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D138E(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGGCCTACGACCGCTATGTTG	0.488																																						uc010san.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(412-414)GAC>GAA		olfactory receptor, family 8, subfamily A,							174.0	144.0	154.0					11																	124440378		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440378C>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.414C>A	11.37:g.124440378C>A	ENSP00000284287:p.Asp138Glu						p.D138E	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	414	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	138			Cytoplasmic (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.414C>A	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	C	18.05	3.537135	0.65085	.	.	ENSG00000196119	ENST00000284287	T	0.02103	4.45	5.03	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000156	T	0.22437	0.0541	H	0.99286	4.5	0.35896	D	0.830009	D	0.89917	1.0	D	0.91635	0.999	T	0.51268	-0.8727	10	0.87932	D	0	.	10.0382	0.42142	0.0:0.7649:0.0:0.2351	.	138	Q8NGG7	OR8A1_HUMAN	E	138	ENSP00000284287:D138E	ENSP00000284287:D138E	D	+	3	2	OR8A1	123945588	0.934000	0.31675	1.000000	0.80357	0.979000	0.70002	0.509000	0.22707	1.333000	0.45449	0.650000	0.86243	GAC		PASS	0.488	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		22	60	22	60	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124748513	124748513	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:124748513T>C	ENST00000397801.1	+	23	3546	c.3354T>C	c.(3352-3354)ccT>ccC	p.P1118P	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Silent_p.P1096P|ROBO3_ENST00000543966.1_5'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1118					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.P1118P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CGCCAATGCCTGAGAGAAGTC	0.607																																						uc001qbc.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(3352-3354)CCT>CCC		roundabout, axon guidance receptor, homolog 3							29.0	36.0	34.0					11																	124748513		2045	4178	6223	SO:0001819	synonymous_variant	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124748513T>C	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3354T>C	11.37:g.124748513T>C						ROBO3_uc001qbd.2_Silent_p.P43P|ROBO3_uc010sar.1_Silent_p.P167P|ROBO3_uc001qbe.2_Silent_p.P43P|ROBO3_uc001qbf.1_Silent_p.P2P	p.P1118P	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	23	3546	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1118			Cytoplasmic (Potential).			Silent	SNP	ENST00000397801.1	37	c.3354T>C	CCDS44755.1																																																																																				PASS	0.607	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		11	20	11	20	---	---	---	---
ETS1	2113	broad.mit.edu	37	11	128426297	128426297	+	Missense_Mutation	SNP	G	G	C	rs193272250	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr11:128426297G>C	ENST00000392668.4	-	3	187	c.103C>G	c.(103-105)Cga>Gga	p.R35G	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	0					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.R35G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CAGTTCATTCGAGGATCTTCA	0.413																																						uc001qej.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|central_nervous_system(1)|pleura(1)	6						c.(103-105)CGA>GGA		v-ets erythroblastosis virus E26 oncogene							135.0	116.0	122.0					11																	128426297		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426297G>C		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.103C>G	11.37:g.128426297G>C	ENSP00000376436:p.Arg35Gly						p.R35G	NM_001143820	NP_001137292	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	188	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	Error:Variant_position_missing_in_P14921_after_alignment					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.103C>G	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.740110	0.30865	.	.	ENSG00000134954	ENST00000392668	T	0.12361	2.69	5.89	4.98	0.66077	.	0.508491	0.20342	N	0.094206	T	0.08802	0.0218	.	.	.	0.80722	D	1	B	0.14805	0.011	B	0.14578	0.011	T	0.23226	-1.0194	9	0.20046	T	0.44	.	8.1394	0.31073	0.2122:0.0:0.7878:0.0	.	35	Q6N087	.	G	35	ENSP00000376436:R35G	ENSP00000376436:R35G	R	-	1	2	ETS1	127931507	1.000000	0.71417	0.978000	0.43139	0.934000	0.57294	3.379000	0.52440	1.497000	0.48584	0.563000	0.77884	CGA		PASS	0.413	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	NM_005238		24	26	24	26	---	---	---	---
SLC6A13	6540	broad.mit.edu	37	12	330114	330114	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:330114C>T	ENST00000343164.4	-	15	1861	c.1809G>A	c.(1807-1809)taG>taA	p.*603*	SLC6A13_ENST00000539668.1_5'Flank|SLC6A13_ENST00000445055.2_Silent_p.*511*	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	0					neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)	p.*603*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCCTGCCCCCTAGCAGTGAG	0.672																																						uc001qic.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1807-1809)TAG>TAA		solute carrier family 6 (neurotransmitter							58.0	51.0	53.0					12																	330114		2203	4300	6503	SO:0001819	synonymous_variant	6540				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr12:330114C>T	U76343	CCDS8502.1, CCDS53729.1, CCDS58198.1	12p13.33	2013-07-19	2013-07-19		ENSG00000010379	ENSG00000010379		"""Solute carriers"""	11046	protein-coding gene	gene with protein product	"""GABA transporter 2"""	615097	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 13"""				Standard	NM_001243392		Approved	GAT2	uc001qic.2	Q9NSD5	OTTHUMG00000168053	ENST00000343164.4:c.1809G>A	12.37:g.330114C>T						SLC6A13_uc009zdj.1_Silent_p.*593*|SLC6A13_uc010sdl.1_Silent_p.*511*	p.*603*	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)		15	1862	-	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		603					B4DJL1|Q8TCC2|Q8WW56	Silent	SNP	ENST00000343164.4	37	c.1809G>A	CCDS8502.1																																																																																				PASS	0.672	SLC6A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397801.1	NM_016615		10	39	10	39	---	---	---	---
LRTM2	654429	broad.mit.edu	37	12	1943621	1943621	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:1943621G>T	ENST00000543818.1	+	5	1689	c.847G>T	c.(847-849)Gct>Tct	p.A283S	CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.A283S|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A283S|CACNA2D4_ENST00000588077.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	283						integral component of membrane (GO:0016021)		p.A283S(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			CAAGCCCGGGGCTGAGCCGGA	0.672																																						uc001qjt.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(847-849)GCT>TCT		leucine-rich repeats and transmembrane domains 2							29.0	31.0	30.0					12																	1943621		2202	4298	6500	SO:0001583	missense	654429					integral to membrane		g.chr12:1943621G>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.847G>T	12.37:g.1943621G>T	ENSP00000446278:p.Ala283Ser					CACNA2D4_uc001qjp.2_Intron|CACNA2D4_uc009zds.1_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.1_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.A283S|LRTM2_uc010sdx.1_Missense_Mutation_p.A283S|LRTM2_uc001qjv.2_Missense_Mutation_p.A45S	p.A283S	NM_001039029	NP_001034118	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		5	1653	+	Ovarian(42;0.107)		283			Extracellular (Potential).		A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.847G>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	G	3.163	-0.171739	0.06421	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041;ENST00000424079	T;T;T	0.55413	0.52;0.52;0.52	5.44	4.54	0.55810	.	0.164427	0.56097	D	0.000034	T	0.27524	0.0676	N	0.08118	0	0.27816	N	0.941951	B	0.06786	0.001	B	0.04013	0.001	T	0.16453	-1.0402	10	0.09338	T	0.73	.	9.6171	0.39698	0.0:0.3226:0.5397:0.1376	.	283	Q8N967	LRTM2_HUMAN	S	283;283;283;45	ENSP00000446278:A283S;ENSP00000299194:A283S;ENSP00000444737:A283S	ENSP00000299194:A283S	A	+	1	0	LRTM2	1813882	0.955000	0.32602	0.977000	0.42913	0.476000	0.33039	1.938000	0.40203	1.284000	0.44531	0.655000	0.94253	GCT		PASS	0.672	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			7	37	7	37	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2058434	2058434	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:2058434C>A	ENST00000280665.6	-	8	1670	c.1591G>T	c.(1591-1593)Gca>Tca	p.A531S	DCP1B_ENST00000397173.4_Missense_Mutation_p.A429S	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	531					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.A531S(1)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			GTGGGTTGTGCGAACACCATG	0.617																																						uc001qjx.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1591-1593)GCA>TCA		decapping enzyme Dcp1b							68.0	64.0	65.0					12																	2058434		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2058434C>A	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1591G>T	12.37:g.2058434C>A	ENSP00000280665:p.Ala531Ser					DCP1B_uc010sdy.1_Missense_Mutation_p.A429S	p.A531S	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		8	1671	-			531					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.1591G>T	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	5.919	0.353620	0.11182	.	.	ENSG00000151065	ENST00000280665;ENST00000397173	T;T	0.17691	2.26;2.26	4.51	-1.06	0.10002	.	0.415808	0.28583	N	0.014834	T	0.08179	0.0204	N	0.24115	0.695	0.22240	N	0.999268	B;B	0.13145	0.006;0.007	B;B	0.14578	0.011;0.004	T	0.41875	-0.9484	10	0.07482	T	0.82	-0.5359	9.084	0.36570	0.0:0.4457:0.0:0.5542	.	429;531	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	S	531;429	ENSP00000280665:A531S;ENSP00000380358:A429S	ENSP00000280665:A531S	A	-	1	0	DCP1B	1928695	0.995000	0.38212	0.809000	0.32408	0.600000	0.36913	0.455000	0.21843	-0.209000	0.10156	-0.440000	0.05779	GCA		PASS	0.617	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		22	36	22	36	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4736573	4736573	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:4736573C>T	ENST00000545990.2	-	5	2019	c.1495G>A	c.(1495-1497)Gat>Aat	p.D499N	AKAP3_ENST00000228850.1_Missense_Mutation_p.D499N|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	499					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.D499N(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						TTGCCAATATCTTCAGGGTAC	0.473																																						uc001qnb.3																			2	Substitution - Missense(2)		lung(2)	skin(3)|large_intestine(1)|ovary(1)|kidney(1)	6						c.(1495-1497)GAT>AAT		A-kinase anchor protein 3							66.0	63.0	64.0					12																	4736573		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736573C>T	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.1495G>A	12.37:g.4736573C>T	ENSP00000440994:p.Asp499Asn						p.D499N	NM_006422	NP_006413	O75969	AKAP3_HUMAN			4	1724	-			499					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1495G>A	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	C	5.353	0.250409	0.10130	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.11495	2.77;2.77	5.13	5.13	0.70059	A-kinase anchor 110kDa, C-terminal (1);	0.587641	0.16646	N	0.205431	T	0.18467	0.0443	L	0.57536	1.79	0.09310	N	1	P	0.38711	0.643	P	0.44921	0.464	T	0.04708	-1.0932	10	0.41790	T	0.15	-9.286	14.2566	0.66055	0.0:1.0:0.0:0.0	.	499	O75969	AKAP3_HUMAN	N	499	ENSP00000228850:D499N;ENSP00000440994:D499N	ENSP00000228850:D499N	D	-	1	0	AKAP3	4606834	0.005000	0.15991	0.016000	0.15963	0.001000	0.01503	1.301000	0.33447	2.825000	0.97269	0.655000	0.94253	GAT		PASS	0.473	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		20	18	20	18	---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4920559	4920559	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:4920559C>T	ENST00000280684.3	+	1	2218	c.1352C>T	c.(1351-1353)gCc>gTc	p.A451V	KCNA6_ENST00000433855.1_Missense_Mutation_p.A451V|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	451					potassium ion transport (GO:0006813)|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)|voltage-gated potassium channel activity (GO:0005249)	p.A451V(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	CTCACCATTGCCCTGCCTGTG	0.587										HNSCC(72;0.22)																												uc001qng.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1351-1353)GCC>GTC		potassium voltage-gated channel, shaker-related							145.0	125.0	132.0					12																	4920559		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4920559C>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1352C>T	12.37:g.4920559C>T	ENSP00000280684:p.Ala451Val	HNSCC(72;0.22)					p.A451V	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	2218	+			451			Helical; Name=Segment S6; (Potential).			Missense_Mutation	SNP	ENST00000280684.3	37	c.1352C>T	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.623156	0.87460	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.98862	-5.19;-5.19	5.09	5.09	0.68999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98626	1.0669	10	0.87932	D	0	.	17.6514	0.88165	0.0:1.0:0.0:0.0	.	451	P17658	KCNA6_HUMAN	V	451	ENSP00000408321:A451V;ENSP00000280684:A451V	ENSP00000280684:A451V	A	+	2	0	KCNA6	4790820	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.580000	0.82523	2.641000	0.89580	0.591000	0.81541	GCC		PASS	0.587	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		12	70	12	70	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7046110	7046110	+	Silent	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:7046110A>G	ENST00000356654.4	+	5	1917	c.1680A>G	c.(1678-1680)caA>caG	p.Q560Q	ATN1_ENST00000396684.2_Silent_p.Q560Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	560	Involved in binding BAIAP2.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)	p.Q560Q(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCTACAGCCAAGCAGGCCCCA	0.627																																						uc001qrw.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1678-1680)CAA>CAG		atrophin-1							131.0	107.0	115.0					12																	7046110		2203	4300	6503	SO:0001819	synonymous_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7046110A>G	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1680A>G	12.37:g.7046110A>G						ATN1_uc001qrx.1_Silent_p.Q560Q	p.Q560Q	NM_001007026	NP_001007027	P54259	ATN1_HUMAN			5	1917	+			560			Involved in binding BAIAP2.		Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	c.1680A>G	CCDS31734.1																																																																																				PASS	0.627	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		21	103	21	103	---	---	---	---
CLEC4E	26253	broad.mit.edu	37	12	8689780	8689780	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:8689780C>A	ENST00000299663.3	-	4	468	c.303G>T	c.(301-303)tgG>tgT	p.W101C	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	101	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.W101C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AACTTAACGCCCAGGAAATGG	0.458																																						uc001quo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(301-303)TGG>TGT		C-type lectin domain family 4, member E							92.0	89.0	90.0					12																	8689780		2203	4300	6503	SO:0001583	missense	26253					integral to membrane	sugar binding	g.chr12:8689780C>A	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.303G>T	12.37:g.8689780C>A	ENSP00000299663:p.Trp101Cys						p.W101C	NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN			4	468	-	Lung SC(5;0.184)		101			C-type lectin.|Extracellular (Potential).		B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	37	c.303G>T	CCDS8594.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.49|12.49	1.953970|1.953970	0.34471|0.34471	.|.	.|.	ENSG00000166523|ENSG00000166523	ENST00000537698|ENST00000299663	.|T	.|0.28895	.|1.59	5.23|5.23	5.23|5.23	0.72850|0.72850	.|C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.|0.000000	.|0.52532	.|D	.|0.000068	T|T	0.71048|0.71048	0.3294|0.3294	H|H	0.98646|0.98646	4.29|4.29	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.81675|0.81675	-0.0825|-0.0825	5|10	.|0.87932	.|D	.|0	.|.	14.5087|14.5087	0.67769|0.67769	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|101	.|Q9ULY5	.|CLC4E_HUMAN	V|C	41|101	.|ENSP00000299663:W101C	.|ENSP00000299663:W101C	G|W	-|-	2|3	0|0	CLEC4E|CLEC4E	8581047|8581047	0.989000|0.989000	0.36119|0.36119	0.968000|0.968000	0.41197|0.41197	0.006000|0.006000	0.05464|0.05464	3.776000|3.776000	0.55356|0.55356	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	GGG|TGG		PASS	0.458	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358		34	52	34	52	---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14628839	14628839	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:14628839G>A	ENST00000540793.1	+	10	3033	c.2878G>A	c.(2878-2880)Ggc>Agc	p.G960S	ATF7IP_ENST00000261168.4_Missense_Mutation_p.G960S|ATF7IP_ENST00000543189.1_Missense_Mutation_p.G959S|ATF7IP_ENST00000544627.1_Missense_Mutation_p.G968S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.G959S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	960					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.G960S(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AAAAGCCACTGGCAGTGATTC	0.358																																						uc001rbw.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)|skin(1)	5						c.(2878-2880)GGC>AGC		activating transcription factor 7 interacting							140.0	132.0	135.0					12																	14628839		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14628839G>A	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2878G>A	12.37:g.14628839G>A	ENSP00000444589:p.Gly960Ser					ATF7IP_uc001rbu.2_Missense_Mutation_p.G960S|ATF7IP_uc001rbv.1_Missense_Mutation_p.G959S|ATF7IP_uc001rbx.2_Missense_Mutation_p.G959S|ATF7IP_uc001rby.3_Missense_Mutation_p.G960S|ATF7IP_uc001rca.2_Missense_Mutation_p.G960S	p.G960S	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN			11	3036	+			960					F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.2878G>A	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	9.394	1.076239	0.20227	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.22945	1.98;1.93;1.98;1.98;1.98	5.88	0.898	0.19264	.	0.392587	0.24366	N	0.039150	T	0.09113	0.0225	N	0.04959	-0.14	0.28752	N	0.901358	B;B;B;B	0.27166	0.047;0.047;0.047;0.17	B;B;B;B	0.23419	0.028;0.028;0.019;0.046	T	0.28933	-1.0028	10	0.18276	T	0.48	-0.6234	5.0288	0.14398	0.2867:0.0:0.5791:0.1342	.	959;960;959;571	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	S	960;959;959;968;960	ENSP00000261168:G960S;ENSP00000443179:G959S;ENSP00000445955:G959S;ENSP00000440440:G968S;ENSP00000444589:G960S	ENSP00000261168:G960S	G	+	1	0	ATF7IP	14520106	1.000000	0.71417	0.102000	0.21198	0.276000	0.26787	1.011000	0.29911	-0.099000	0.12263	-0.175000	0.13238	GGC		PASS	0.358	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		18	34	18	34	---	---	---	---
DERA	51071	broad.mit.edu	37	12	16111227	16111227	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:16111227A>G	ENST00000428559.2	+	3	447	c.235A>G	c.(235-237)Atc>Gtc	p.I79V	DERA_ENST00000532964.1_Missense_Mutation_p.I79V|DERA_ENST00000526530.1_5'UTR	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	79					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)	p.I79V(1)		endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				CAAATACCCAATCCGGGAAGA	0.353																																						uc001rde.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)ATC>GTC		deoxyribose-phosphate aldolase-like							71.0	67.0	68.0					12																	16111227		1855	4095	5950	SO:0001583	missense	51071				deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding	g.chr12:16111227A>G	AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"""2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"""			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.235A>G	12.37:g.16111227A>G	ENSP00000416583:p.Ile79Val					DERA_uc010shx.1_5'UTR	p.I79V	NM_015954	NP_057038	Q9Y315	DEOC_HUMAN			3	367	+		Hepatocellular(102;0.121)	79					Q53HN9|Q6PHW2	Missense_Mutation	SNP	ENST00000428559.2	37	c.235A>G	CCDS44838.1	.	.	.	.	.	.	.	.	.	.	A	3.496	-0.102753	0.06967	.	.	ENSG00000023697	ENST00000428559;ENST00000531803;ENST00000532964	.	.	.	5.06	3.92	0.45320	Aldolase-type TIM barrel (1);	0.057804	0.64402	D	0.000002	T	0.28300	0.0699	N	0.11023	0.085	0.80722	D	1	B	0.14805	0.011	B	0.18561	0.022	T	0.09729	-1.0661	9	0.06236	T	0.91	-15.2644	10.7289	0.46085	0.9256:0.0:0.0744:0.0	.	79	Q9Y315	DEOC_HUMAN	V	79;100;79	.	ENSP00000416583:I79V	I	+	1	0	DERA	16002494	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	5.565000	0.67365	0.952000	0.37798	0.528000	0.53228	ATC		PASS	0.353	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384731.1	NM_015954		5	21	5	21	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40703009	40703009	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:40703009A>G	ENST00000298910.7	+	30	4349	c.4291A>G	c.(4291-4293)Atg>Gtg	p.M1431V		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1431	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.M1431V(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGTTGATGCCATGAAGCCTTG	0.418																																						uc001rmg.3																			2	Substitution - Missense(2)		lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(4291-4293)ATG>GTG		leucine-rich repeat kinase 2							92.0	81.0	85.0					12																	40703009		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40703009A>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.4291A>G	12.37:g.40703009A>G	ENSP00000298910:p.Met1431Val					LRRK2_uc009zjw.2_Missense_Mutation_p.M269V|LRRK2_uc001rmi.2_Missense_Mutation_p.M264V	p.M1431V	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			30	4412	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1431			Roc.		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.4291A>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.831724	0.50845	.	.	ENSG00000188906	ENST00000298910	T	0.65178	-0.14	5.63	5.63	0.86233	ROC GTPase (1);Small GTP-binding protein domain (1);Mitochondrial Rho-like (1);	0.088405	0.85682	D	0.000000	T	0.38321	0.1036	N	0.02765	-0.5	0.48830	D	0.999713	B;B	0.33022	0.229;0.394	B;B	0.27262	0.057;0.078	T	0.45323	-0.9269	10	0.46703	T	0.11	.	15.8429	0.78864	1.0:0.0:0.0:0.0	.	1431;1431	Q17RV3;Q5S007	.;LRRK2_HUMAN	V	1431	ENSP00000298910:M1431V	ENSP00000298910:M1431V	M	+	1	0	LRRK2	38989276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.266000	0.65525	2.145000	0.66743	0.533000	0.62120	ATG		PASS	0.418	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		29	64	29	64	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43793012	43793012	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:43793012T>C	ENST00000389420.3	-	29	4308	c.4309A>G	c.(4309-4311)Aga>Gga	p.R1437G		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1437	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1437G(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CGGTACTTTCTACCTTTACCA	0.343																																						uc010skx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(4309-4311)AGA>GGA		a disintegrin-like and metalloprotease with							89.0	78.0	81.0					12																	43793012		2201	4297	6498	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43793012T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4309A>G	12.37:g.43793012T>C	ENSP00000374071:p.Arg1437Gly						p.R1437G	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	29	4309	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1437			TSP type-1 11.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.4309A>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	8.087	0.773628	0.16051	.	.	ENSG00000173157	ENST00000389420	T	0.52754	0.65	4.96	1.05	0.20165	.	0.577500	0.15364	N	0.266239	T	0.31231	0.0790	L	0.41492	1.28	0.58432	D	0.999999	B	0.14012	0.009	B	0.09377	0.004	T	0.07424	-1.0773	10	0.26408	T	0.33	.	3.6532	0.08212	0.3722:0.1913:0.0:0.4366	.	1437	P59510	ATS20_HUMAN	G	1437	ENSP00000374071:R1437G	ENSP00000374071:R1437G	R	-	1	2	ADAMTS20	42079279	0.181000	0.23161	0.949000	0.38748	0.728000	0.41692	0.311000	0.19380	0.069000	0.16605	0.528000	0.53228	AGA		PASS	0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		4	19	4	19	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43826171	43826171	+	Missense_Mutation	SNP	C	C	A	rs137911452		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:43826171C>A	ENST00000389420.3	-	21	3031	c.3032G>T	c.(3031-3033)cGa>cTa	p.R1011L	ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R165L|ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1011L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1011	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1011L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TCTCGTCACTCGGGACAGTTC	0.438																																						uc010skx.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(3031-3033)CGA>CTA		a disintegrin-like and metalloprotease with							121.0	116.0	117.0					12																	43826171		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826171C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3032G>T	12.37:g.43826171C>A	ENSP00000374071:p.Arg1011Leu					ADAMTS20_uc001rno.1_Missense_Mutation_p.R165L|ADAMTS20_uc001rnp.1_Missense_Mutation_p.R165L	p.R1011L	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	21	3032	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	1011			TSP type-1 4.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.3032G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	16.64	3.180823	0.57800	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.04	-1.53	0.08611	.	0.303544	0.22113	N	0.064444	T	0.63873	0.2548	M	0.75615	2.305	0.22066	N	0.999383	B;D	0.58620	0.396;0.983	B;P	0.53912	0.233;0.737	T	0.61564	-0.7037	10	0.52906	T	0.07	.	11.3951	0.49836	0.0:0.3672:0.0:0.6328	.	1011;165	P59510;E9PBD5	ATS20_HUMAN;.	L	1011;177;165;1011;1011	ENSP00000374071:R1011L;ENSP00000447427:R177L;ENSP00000378911:R165L;ENSP00000448341:R1011L	ENSP00000374068:R1011L	R	-	2	0	ADAMTS20	42112438	0.000000	0.05858	0.003000	0.11579	0.866000	0.49608	-0.061000	0.11693	-0.185000	0.10550	-0.345000	0.07892	CGA		PASS	0.438	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		29	60	29	60	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43847811	43847811	+	Silent	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:43847811A>G	ENST00000389420.3	-	12	1658	c.1659T>C	c.(1657-1659)cgT>cgC	p.R553R	ADAMTS20_ENST00000553158.1_Silent_p.R553R	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	553	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R553R(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CATTTACAGGACGTGTTTCCG	0.423																																						uc010skx.1																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1657-1659)CGT>CGC		a disintegrin-like and metalloprotease with							127.0	102.0	110.0					12																	43847811		2203	4300	6503	SO:0001819	synonymous_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43847811A>G	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1659T>C	12.37:g.43847811A>G							p.R553R	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	12	1659	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	553			Disintegrin.		A6NNC9|J3QT00	Silent	SNP	ENST00000389420.3	37	c.1659T>C	CCDS31778.2																																																																																				PASS	0.423	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		18	32	18	32	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48378344	48378344	+	Silent	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:48378344A>T	ENST00000380518.3	-	28	2036	c.1872T>A	c.(1870-1872)ggT>ggA	p.G624G	COL2A1_ENST00000337299.6_Silent_p.G555G|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	624	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G555G(1)|p.G624G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GACCAGGAGCACCAGGCAGTC	0.632																																						uc001rqu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(1870-1872)GGT>GGA		collagen, type II, alpha 1 isoform 1 precursor	Collagenase(DB00048)						110.0	74.0	86.0					12																	48378344		2203	4300	6503	SO:0001819	synonymous_variant	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48378344A>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1872T>A	12.37:g.48378344A>T						COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.G555G	p.G624G	NM_001844	NP_001835	P02458	CO2A1_HUMAN			28	2053	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	624			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Silent	SNP	ENST00000380518.3	37	c.1872T>A	CCDS41778.1																																																																																				PASS	0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		11	58	11	58	---	---	---	---
C12orf10	60314	broad.mit.edu	37	12	53700773	53700773	+	Missense_Mutation	SNP	G	G	T	rs372883926		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:53700773G>T	ENST00000267103.5	+	7	1023	c.971G>T	c.(970-972)cGg>cTg	p.R324L	C12orf10_ENST00000548632.1_Missense_Mutation_p.R249L|AAAS_ENST00000549983.1_5'Flank|C12orf10_ENST00000549488.1_Missense_Mutation_p.R161L	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	324					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.R324L(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GAGCCATGGCGGGGTCTTCGG	0.622																																						uc001scp.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(970-972)CGG>CTG		MYG1 protein precursor							89.0	95.0	93.0					12																	53700773		2203	4300	6503	SO:0001583	missense	60314							g.chr12:53700773G>T	AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	ENST00000267103.5:c.971G>T	12.37:g.53700773G>T	ENSP00000267103:p.Arg324Leu					C12orf10_uc009zmx.2_Missense_Mutation_p.R273L|C12orf10_uc001scq.3_Missense_Mutation_p.R209L	p.R324L	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN			7	1023	+			324						Missense_Mutation	SNP	ENST00000267103.5	37	c.971G>T	CCDS31810.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465060	0.84425	.	.	ENSG00000139637	ENST00000267103;ENST00000548845;ENST00000545214;ENST00000548632;ENST00000549488	T;T;T	0.50548	0.74;0.74;0.74	5.32	3.5	0.40072	.	0.000000	0.85682	D	0.000000	T	0.64649	0.2617	M	0.86502	2.82	0.80722	D	1	D;D	0.60575	0.965;0.988	P;P	0.57324	0.723;0.818	T	0.70641	-0.4816	10	0.66056	D	0.02	-8.3867	9.9841	0.41830	0.167:0.0:0.833:0.0	.	273;324	F5H641;Q9HB07	.;MYG1_HUMAN	L	324;209;273;249;161	ENSP00000267103:R324L;ENSP00000450270:R249L;ENSP00000448433:R161L	ENSP00000267103:R324L	R	+	2	0	C12orf10	51987040	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.328000	0.79160	1.630000	0.50440	0.655000	0.94253	CGG		PASS	0.622	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1	NM_021640		88	170	88	170	---	---	---	---
NCKAP1L	3071	broad.mit.edu	37	12	54911595	54911595	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:54911595T>C	ENST00000293373.6	+	13	1290	c.1211T>C	c.(1210-1212)aTt>aCt	p.I404T	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.I354T	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	404					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)	p.I404T(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TATAGGAGCATTGCAGAGCTA	0.403																																						uc001sgc.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1210-1212)ATT>ACT		NCK-associated protein 1-like							145.0	134.0	138.0					12																	54911595		2203	4300	6503	SO:0001583	missense	3071				actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity	g.chr12:54911595T>C	AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.1211T>C	12.37:g.54911595T>C	ENSP00000293373:p.Ile404Thr					NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.I354T	p.I404T	NM_005337	NP_005328	P55160	NCKPL_HUMAN			13	1290	+			404					B4DUT5|Q52LW0	Missense_Mutation	SNP	ENST00000293373.6	37	c.1211T>C	CCDS31813.1	.	.	.	.	.	.	.	.	.	.	T	19.29	3.799348	0.70567	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.39406	1.08;1.08	6.0	6.0	0.97389	.	0.091965	0.64402	D	0.000001	T	0.42877	0.1222	L	0.50333	1.59	0.39948	D	0.974496	B	0.25772	0.134	B	0.30943	0.122	T	0.42732	-0.9434	10	0.87932	D	0	-17.067	14.5122	0.67794	0.0:0.0:0.0:1.0	.	404	P55160	NCKPL_HUMAN	T	404;354	ENSP00000293373:I404T;ENSP00000445596:I354T	ENSP00000293373:I404T	I	+	2	0	NCKAP1L	53197862	1.000000	0.71417	0.998000	0.56505	0.934000	0.57294	7.413000	0.80104	2.313000	0.78055	0.454000	0.30748	ATT		PASS	0.403	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406195.1	NM_005337		54	93	54	93	---	---	---	---
TMEM5	10329	broad.mit.edu	37	12	64202735	64202735	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:64202735G>C	ENST00000261234.6	+	6	1353	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	TMEM5_ENST00000537373.1_Missense_Mutation_p.E139Q|TMEM5-AS1_ENST00000546214.1_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	399						integral component of plasma membrane (GO:0005887)		p.E399Q(1)		breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TTTAGAAAAAGAGAAAACTAT	0.358																																						uc001srq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1195-1197)GAG>CAG		transmembrane protein 5							42.0	44.0	43.0					12																	64202735		2203	4300	6503	SO:0001583	missense	10329					integral to plasma membrane		g.chr12:64202735G>C	AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.1195G>C	12.37:g.64202735G>C	ENSP00000261234:p.Glu399Gln					TMEM5_uc001srr.1_Missense_Mutation_p.E296Q|TMEM5_uc001srs.1_Missense_Mutation_p.E139Q	p.E399Q	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)	6	1299	+		Myeloproliferative disorder(1001;0.0255)	399			Extracellular (Potential).		A8K017|Q6PKD6	Missense_Mutation	SNP	ENST00000261234.6	37	c.1195G>C	CCDS8966.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899404	0.91962	.	.	ENSG00000118600	ENST00000261234;ENST00000537373	.	.	.	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.83004	0.5160	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.83512	0.0081	8	.	.	.	-11.4832	19.0996	0.93269	0.0:0.0:1.0:0.0	.	139;399	G3V1K2;Q9Y2B1	.;TMEM5_HUMAN	Q	399;139	.	.	E	+	1	0	TMEM5	62489002	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.643000	0.98464	2.693000	0.91896	0.561000	0.74099	GAG		PASS	0.358	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400821.1	NM_014254		29	48	29	48	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70990077	70990077	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:70990077C>T	ENST00000261266.5	-	3	385	c.356G>A	c.(355-357)aGt>aAt	p.S119N	PTPRB_ENST00000538708.1_Missense_Mutation_p.S119N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S119N|PTPRB_ENST00000550358.1_Missense_Mutation_p.S337N|PTPRB_ENST00000551525.1_Missense_Mutation_p.S336N|PTPRB_ENST00000334414.6_Missense_Mutation_p.S337N|PTPRB_ENST00000451516.2_Missense_Mutation_p.S119N	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	119	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S119N(2)|p.S337N(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCTCTTTACTGACTCCAAA	0.378																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(355-357)AGT>AAT		protein tyrosine phosphatase, receptor type, B							46.0	44.0	45.0					12																	70990077		1876	4117	5993	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70990077C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.356G>A	12.37:g.70990077C>T	ENSP00000261266:p.Ser119Asn					PTPRB_uc010sto.1_Missense_Mutation_p.S119N|PTPRB_uc010stp.1_Missense_Mutation_p.S119N|PTPRB_uc001swc.3_Missense_Mutation_p.S337N|PTPRB_uc001swa.3_Missense_Mutation_p.S337N|PTPRB_uc001swd.3_Missense_Mutation_p.S336N|PTPRB_uc009zrr.1_Missense_Mutation_p.S216N|PTPRB_uc001swe.2_Missense_Mutation_p.S337N	p.S119N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		3	386	-	Renal(347;0.236)		119			Fibronectin type-III 2.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.356G>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	4.948	0.176147	0.09443	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29;0.29;0.29	5.8	-11.2	0.00127	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.870191	0.10530	N	0.663932	T	0.29620	0.0739	N	0.04203	-0.255	0.09310	N	0.999997	B;B;B;B;B;B;B;B	0.15473	0.001;0.001;0.0;0.002;0.001;0.0;0.0;0.013	B;B;B;B;B;B;B;B	0.13407	0.003;0.003;0.004;0.004;0.008;0.001;0.004;0.009	T	0.41610	-0.9499	10	0.14656	T	0.56	.	20.4361	0.99089	0.0:0.6461:0.0:0.3539	.	119;119;216;337;336;337;119;337	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	N	337;119;337;337;119;119;119;336;216	ENSP00000334928:S337N;ENSP00000393028:S119N;ENSP00000448058:S337N;ENSP00000438927:S119N;ENSP00000447302:S119N;ENSP00000261266:S119N;ENSP00000448349:S336N;ENSP00000446982:S216N	ENSP00000261266:S119N	S	-	2	0	PTPRB	69276344	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-1.633000	0.02022	-2.607000	0.00447	-0.793000	0.03317	AGT		PASS	0.378	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			14	28	14	28	---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72287057	72287057	+	Missense_Mutation	SNP	C	C	G	rs368497915		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:72287057C>G	ENST00000550746.1	+	6	674	c.610C>G	c.(610-612)Cag>Gag	p.Q204E	TBC1D15_ENST00000319106.8_Missense_Mutation_p.Q212E|TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.Q204E	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	204					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.Q212E(1)|p.Q204E(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAGTCTTTCACAGTCTTTTGA	0.303																																						uc001swu.2																			2	Substitution - Missense(2)		lung(2)		0						c.(676-678)CAG>GAG		TBC1 domain family, member 15 isoform 1							84.0	83.0	84.0					12																	72287057		2202	4293	6495	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72287057C>G	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.610C>G	12.37:g.72287057C>G	ENSP00000448182:p.Gln204Glu					TBC1D15_uc009zrv.2_Missense_Mutation_p.Q105E|TBC1D15_uc010stt.1_Missense_Mutation_p.Q212E|TBC1D15_uc001swv.2_Missense_Mutation_p.Q226E|TBC1D15_uc001sww.2_5'UTR	p.Q226E	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			6	685	+			204					B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.676C>G	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807104	0.90623	.	.	ENSG00000121749	ENST00000482439;ENST00000550746;ENST00000491063;ENST00000319106;ENST00000485960	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.68	5.68	0.88126	Domain of unknown function DUF3548 (1);	0.116646	0.64402	D	0.000010	T	0.54663	0.1872	M	0.61703	1.905	0.80722	D	1	D;D;D	0.64830	0.994;0.992;0.985	D;D;D	0.78314	0.991;0.984;0.981	T	0.41645	-0.9497	10	0.32370	T	0.25	-1.6163	19.7908	0.96456	0.0:1.0:0.0:0.0	.	212;204;204	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	E	105;204;105;212;204	ENSP00000449643:Q105E;ENSP00000448182:Q204E;ENSP00000418091:Q105E;ENSP00000318262:Q212E;ENSP00000420678:Q204E	ENSP00000318262:Q212E	Q	+	1	0	TBC1D15	70573324	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.156000	0.58138	2.682000	0.91365	0.591000	0.81541	CAG		PASS	0.303	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2	NM_022771		17	68	17	68	---	---	---	---
GLIPR1L2	144321	broad.mit.edu	37	12	75804329	75804329	+	Missense_Mutation	SNP	G	G	T	rs550898972		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:75804329G>T	ENST00000550916.1	+	2	397	c.350G>T	c.(349-351)gGt>gTt	p.G117V	GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.G10V|GLIPR1L2_ENST00000435775.1_Missense_Mutation_p.G117V|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.G52V|GLIPR1L2_ENST00000547164.1_Missense_Mutation_p.G117V|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.G117V	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	117	SCP.					integral component of membrane (GO:0016021)		p.G117V(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						TATGGTATTGGTGAAAATATG	0.348																																						uc001sxr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(349-351)GGT>GTT		GLI pathogenesis-related 1 like 2							88.0	88.0	88.0					12																	75804329		2203	4299	6502	SO:0001583	missense	144321					integral to membrane		g.chr12:75804329G>T	BC029557	CCDS9010.1, CCDS58258.1	12q21.1	2014-06-03				ENSG00000180481			28592	protein-coding gene	gene with protein product		610394				12477932	Standard	NM_001270396		Approved	MGC39497	uc001sxr.2	Q4G1C9	OTTHUMG00000169756	ENST00000550916.1:c.350G>T	12.37:g.75804329G>T	ENSP00000448248:p.Gly117Val					GLIPR1L2_uc001sxp.1_Missense_Mutation_p.G117V|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.G10V	p.G117V	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN			2	358	+			117					Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	c.350G>T	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.798349	0.70567	.	.	ENSG00000180481	ENST00000550916;ENST00000435775;ENST00000378692;ENST00000320460;ENST00000547164;ENST00000441218	T;T;T;T;T;T	0.37915	1.17;1.17;1.17;1.17;1.17;1.17	4.91	4.91	0.64330	CAP domain (3);	0.132324	0.49916	D	0.000129	T	0.73171	0.3553	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.83206	-0.0076	10	0.87932	D	0	.	15.1142	0.72388	0.0:0.0:1.0:0.0	.	117;117	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	V	117;117;10;117;117;52	ENSP00000448248:G117V;ENSP00000398328:G117V;ENSP00000367963:G10V;ENSP00000317385:G117V;ENSP00000447980:G117V;ENSP00000405273:G52V	ENSP00000317385:G117V	G	+	2	0	GLIPR1L2	74090596	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.119000	0.71590	2.538000	0.85594	0.484000	0.47621	GGT		PASS	0.348	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		52	95	52	95	---	---	---	---
CEP83	51134	broad.mit.edu	37	12	94769671	94769671	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:94769671C>A	ENST00000397809.5	-	8	1473	c.924G>T	c.(922-924)ttG>ttT	p.L308F	CCDC41_ENST00000547575.1_Missense_Mutation_p.L308F|CCDC41_ENST00000339839.5_Missense_Mutation_p.L308F|CCDC41_ENST00000397807.2_Missense_Mutation_p.L275F|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		300					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.L308F(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTTTACTGGACAATGTATTTA	0.254																																						uc001tdd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(922-924)TTG>TTT		NY-REN-58 antigen							75.0	70.0	72.0					12																	94769671		1790	4059	5849	SO:0001583	missense	51134							g.chr12:94769671C>A																												ENST00000397809.5:c.924G>T	12.37:g.94769671C>A	ENSP00000380911:p.Leu308Phe					CCDC41_uc001tde.2_Missense_Mutation_p.L308F|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.L308F	p.L308F	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			8	1510	-			300			Potential.		A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.924G>T	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860478	0.32884	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.55588	0.51;0.51;0.52;1.93	5.42	3.6	0.41247	.	.	.	.	.	T	0.60366	0.2263	L	0.58101	1.795	0.31812	N	0.62703	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.59825	0.755;0.864;0.676	T	0.64584	-0.6373	9	0.66056	D	0.02	-3.9044	5.808	0.18450	0.1351:0.6478:0.0:0.2171	.	308;275;300	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	F	308;308;275;308	ENSP00000344655:L308F;ENSP00000380911:L308F;ENSP00000380909:L275F;ENSP00000448913:L308F	ENSP00000344655:L308F	L	-	3	2	CCDC41	93293802	0.960000	0.32886	0.942000	0.38095	0.092000	0.18411	0.462000	0.21956	0.679000	0.31345	0.455000	0.32223	TTG		PASS	0.254	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			14	31	14	31	---	---	---	---
DEPDC4	120863	broad.mit.edu	37	12	100660851	100660851	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:100660851C>A	ENST00000416321.1	-	1	6	c.4G>T	c.(4-6)Gtg>Ttg	p.V2L	SCYL2_ENST00000360820.2_5'Flank	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	2					intracellular signal transduction (GO:0035556)			p.V2L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						TCCCCTGGCACCATAGCCCCG	0.652																																						uc001thi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(4-6)GTG>TTG		DEP domain containing 4							43.0	51.0	48.0					12																	100660851		2203	4300	6503	SO:0001583	missense	120863				intracellular signal transduction			g.chr12:100660851C>A	AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.4G>T	12.37:g.100660851C>A	ENSP00000396234:p.Val2Leu					SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.2_5'Flank|DEPDC4_uc001thh.1_RNA|DEPDC4_uc001thj.1_Missense_Mutation_p.V2L|DEPDC4_uc009ztv.1_Missense_Mutation_p.V2L|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_RNA	p.V2L	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN			1	7	-			2					Q496C8|Q96BW0	Missense_Mutation	SNP	ENST00000416321.1	37	c.4G>T	CCDS9075.1	.	.	.	.	.	.	.	.	.	.	c	9.712	1.157213	0.21454	.	.	ENSG00000166153	ENST00000422147;ENST00000378250;ENST00000416321;ENST00000550587;ENST00000549249	T;T;T	0.35421	1.47;1.49;1.31	3.81	1.45	0.22620	.	2.943110	0.01528	U	0.018678	T	0.26268	0.0641	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16603	0.009;0.018;0.009	B;B;B	0.10450	0.005;0.005;0.005	T	0.31223	-0.9951	10	0.87932	D	0	.	7.8554	0.29478	0.0:0.8491:0.0:0.1509	.	2;2;2	E9PGM3;Q3ZCN8;Q8N2C3	.;.;DEPD4_HUMAN	L	2	ENSP00000396234:V2L;ENSP00000448385:V2L;ENSP00000448338:V2L	ENSP00000299185:V2L	V	-	1	0	DEPDC4	99184982	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.317000	0.08060	0.195000	0.20347	0.651000	0.88453	GTG		PASS	0.652	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1	NM_152317		15	58	15	58	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104077060	104077060	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:104077060C>A	ENST00000388887.2	+	26	3087	c.2883C>A	c.(2881-2883)acC>acA	p.T961T		NM_017564.9	NP_060034.9			stabilin 2									p.T961T(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGGAACAAACCGGGAAATGTC	0.333																																						uc001tjw.2																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|skin(5)	14						c.(2881-2883)ACC>ACA		stabilin 2 precursor							171.0	156.0	161.0					12																	104077060		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104077060C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.2883C>A	12.37:g.104077060C>A							p.T961T	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			26	3069	+			961			Extracellular (Potential).|EGF-like 10.			Silent	SNP	ENST00000388887.2	37	c.2883C>A	CCDS31888.1																																																																																				PASS	0.333	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			28	75	28	75	---	---	---	---
ACACB	32	broad.mit.edu	37	12	109644571	109644571	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:109644571G>A	ENST00000338432.7	+	20	3089	c.2970G>A	c.(2968-2970)gaG>gaA	p.E990E	ACACB_ENST00000377848.3_Silent_p.E990E|ACACB_ENST00000377854.5_Silent_p.E990E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	990					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.E990E(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TCCTCGGAGAGAAACTGCACC	0.527																																						uc001tob.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(2968-2970)GAG>GAA		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						163.0	158.0	160.0					12																	109644571		2203	4300	6503	SO:0001819	synonymous_variant	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109644571G>A	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2970G>A	12.37:g.109644571G>A						ACACB_uc001toc.2_Silent_p.E990E	p.E990E	NM_001093	NP_001084	O00763	ACACB_HUMAN			20	3089	+			990					A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	ENST00000338432.7	37	c.2970G>A	CCDS31898.1																																																																																				PASS	0.527	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		16	241	16	241	---	---	---	---
ACAD10	80724	broad.mit.edu	37	12	112182553	112182553	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:112182553G>C	ENST00000313698.4	+	13	1976	c.1821G>C	c.(1819-1821)gaG>gaC	p.E607D	ACAD10_ENST00000549590.1_Missense_Mutation_p.E607D|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.E638D|ACAD10_ENST00000392636.2_Missense_Mutation_p.E209D	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	607						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.E607D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TTTTCAAAGAGATGCCCTTCA	0.537																																						uc001tsq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1819-1821)GAG>GAC		acyl-Coenzyme A dehydrogenase family, member 10							84.0	77.0	79.0					12																	112182553		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112182553G>C	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1821G>C	12.37:g.112182553G>C	ENSP00000325137:p.Glu607Asp					ACAD10_uc001tsp.2_Missense_Mutation_p.E607D|ACAD10_uc009zvx.2_Missense_Mutation_p.E638D|ACAD10_uc001tss.1_RNA	p.E607D	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			13	2021	+			607					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1821G>C	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	9.357	1.066950	0.20067	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698;ENST00000507683	D;T;D;D	0.96459	-4.02;3.22;-3.6;-3.6	5.74	1.57	0.23409	.	0.536026	0.18288	N	0.145810	D	0.89708	0.6793	N	0.25426	0.745	0.26395	N	0.976518	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.09377	0.004;0.002;0.004	T	0.77370	-0.2613	10	0.14252	T	0.57	.	6.0097	0.19569	0.2153:0.2586:0.5261:0.0	.	638;607;607	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	D	209;607;607;638;607;188	ENSP00000376411:E209D;ENSP00000446959:E607D;ENSP00000389813:E638D;ENSP00000325137:E607D	ENSP00000325137:E607D	E	+	3	2	ACAD10	110666936	0.001000	0.12720	1.000000	0.80357	0.392000	0.30506	0.107000	0.15375	0.774000	0.33427	-0.140000	0.14226	GAG		PASS	0.537	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		33	69	33	69	---	---	---	---
TAOK3	51347	broad.mit.edu	37	12	118639252	118639252	+	Missense_Mutation	SNP	C	C	A	rs371449372		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:118639252C>A	ENST00000392533.3	-	12	1326	c.836G>T	c.(835-837)cGa>cTa	p.R279L	TAOK3_ENST00000419821.2_Missense_Mutation_p.R279L	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	279					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)	p.R279Q(1)|p.R279L(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGCCGGTCTCGTCGAACAAA	0.393																																						uc001twx.2																			2	Substitution - Missense(2)		lung(1)|kidney(1)	lung(5)|central_nervous_system(1)	6						c.(835-837)CGA>CTA		TAO kinase 3							89.0	83.0	85.0					12																	118639252		2203	4300	6503	SO:0001583	missense	51347				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:118639252C>A	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.836G>T	12.37:g.118639252C>A	ENSP00000376317:p.Arg279Leu					TAOK3_uc001tww.2_Missense_Mutation_p.R109L|TAOK3_uc001twy.3_Missense_Mutation_p.R279L	p.R279L	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN			12	1131	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		279					Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	37	c.836G>T	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080693	0.76528	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000538601	D;D;D	0.85411	-1.98;-1.98;-1.98	4.79	4.79	0.61399	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000001	D	0.86372	0.5917	M	0.79475	2.455	0.80722	D	1	B	0.13145	0.007	B	0.17433	0.018	D	0.84833	0.0803	10	0.72032	D	0.01	.	18.0158	0.89239	0.0:1.0:0.0:0.0	.	279	Q9H2K8	TAOK3_HUMAN	L	279;279;177	ENSP00000416374:R279L;ENSP00000376317:R279L;ENSP00000437389:R177L	ENSP00000376317:R279L	R	-	2	0	TAOK3	117123635	1.000000	0.71417	0.997000	0.53966	0.945000	0.59286	5.866000	0.69590	2.489000	0.83994	0.591000	0.81541	CGA		PASS	0.393	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281		25	45	25	45	---	---	---	---
ANAPC5	51433	broad.mit.edu	37	12	121789999	121789999	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:121789999C>A	ENST00000261819.3	-	1	266	c.145G>T	c.(145-147)Gag>Tag	p.E49*	ANAPC5_ENST00000541887.1_Nonsense_Mutation_p.E49*	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	49					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)	p.E49*(1)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ACGGCGCCCTCGCCTGTGCGG	0.652																																						uc001uag.2																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|breast(2)|kidney(1)	6						c.(145-147)GAG>TAG		anaphase-promoting complex subunit 5 isoform a							55.0	48.0	50.0					12																	121789999		2203	4300	6503	SO:0001587	stop_gained	51433				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	g.chr12:121789999C>A	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.145G>T	12.37:g.121789999C>A	ENSP00000261819:p.Glu49*					ANAPC5_uc001uah.2_Intron	p.E49*	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN			1	267	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		49					E9PFB2|Q8N4H7|Q9BQD4	Nonsense_Mutation	SNP	ENST00000261819.3	37	c.145G>T	CCDS9220.1	.	.	.	.	.	.	.	.	.	.	C	37	6.506837	0.97620	.	.	ENSG00000089053	ENST00000541887;ENST00000261819;ENST00000539871	.	.	.	5.33	5.33	0.75918	.	0.469628	0.21549	N	0.072764	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	9.9801	0.41809	0.1399:0.7871:0.0:0.073	.	.	.	.	X	49	.	ENSP00000261819:E49X	E	-	1	0	ANAPC5	120274382	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	1.185000	0.32065	2.778000	0.95560	0.591000	0.81541	GAG		PASS	0.652	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402582.1			18	32	18	32	---	---	---	---
KDM2B	84678	broad.mit.edu	37	12	121958890	121958890	+	Silent	SNP	G	G	A	rs369372892		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:121958890G>A	ENST00000377071.4	-	9	1017	c.945C>T	c.(943-945)gcC>gcT	p.A315A	KDM2B_ENST00000538046.2_Intron|KDM2B_ENST00000377069.4_Silent_p.A284A|KDM2B_ENST00000543852.1_Silent_p.A84A|KDM2B_ENST00000536437.1_Silent_p.A198A	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	315	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)	p.A315A(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						GGGTGTAGACGGCATGGATCC	0.617																																						uc001uat.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(943-945)GCC>GCT		F-box and leucine-rich repeat protein 10 isoform		G	,	3,4155		0,3,2076	65.0	68.0	67.0		852,945	-11.7	0.0	12		67	0,8424		0,0,4212	no	coding-synonymous,coding-synonymous	KDM2B	NM_001005366.1,NM_032590.4	,	0,3,6288	AA,AG,GG		0.0,0.0722,0.0238	,	284/1266,315/1337	121958890	3,12579	2079	4212	6291	SO:0001819	synonymous_variant	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121958890G>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.945C>T	12.37:g.121958890G>A						KDM2B_uc001uas.2_Silent_p.A284A|KDM2B_uc001uau.2_Silent_p.A198A|KDM2B_uc001uav.3_Intron	p.A315A	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			9	1049	-			315			JmjC.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Silent	SNP	ENST00000377071.4	37	c.945C>T	CCDS41850.1																																																																																				PASS	0.617	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2	NM_032590		12	38	12	38	---	---	---	---
NCOR2	9612	broad.mit.edu	37	12	124812033	124812033	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:124812033T>C	ENST00000405201.1	-	45	7105	c.7105A>G	c.(7105-7107)Aat>Gat	p.N2369D	NCOR2_ENST00000429285.2_Missense_Mutation_p.N2359D|NCOR2_ENST00000356219.3_Missense_Mutation_p.N2376D|NCOR2_ENST00000404121.2_Missense_Mutation_p.N1930D|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2380					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.N2376D(1)|p.N2369D(1)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCACTGGCATTCAGAGGGTTA	0.602																																						uc010tay.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(1)	4						c.(7135-7137)AAT>GAT		nuclear receptor co-repressor 2 isoform 1							66.0	75.0	72.0					12																	124812033		2112	4229	6341	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124812033T>C	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.7105A>G	12.37:g.124812033T>C	ENSP00000384018:p.Asn2369Asp					NCOR2_uc010taz.1_Intron|NCOR2_uc010tax.1_Intron	p.N2379D	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	47	7291	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		2380					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.7135A>G	CCDS41858.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.21|16.21	3.057870|3.057870	0.55325|0.55325	.|.	.|.	ENSG00000196498|ENSG00000196498	ENST00000405201;ENST00000356219;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285|ENST00000413172	T;T;T;T|.	0.19250|.	2.16;2.16;2.17;2.43|.	4.88|4.88	4.88|4.88	0.63580|0.63580	.|.	0.667620|.	0.14714|.	N|.	0.302760|.	T|.	0.62527|.	0.2435|.	L|L	0.51422|0.51422	1.61|1.61	0.35163|0.35163	D|D	0.770814|0.770814	D|.	0.65815|.	0.995|.	D|.	0.63957|.	0.92|.	T|.	0.70389|.	-0.4885|.	10|.	0.25751|.	T|.	0.34|.	-4.7925|-4.7925	14.4894|14.4894	0.67639|0.67639	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2369|.	C9JFD3|.	.|.	D|W	2369;2376;2368;1930;461;2359|33	ENSP00000384018:N2369D;ENSP00000348551:N2376D;ENSP00000385618:N1930D;ENSP00000400281:N2359D|.	ENSP00000348551:N2376D|.	N|X	-|-	1|3	0|0	NCOR2|NCOR2	123377986|123377986	.|.	.|.	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	.|.	.|.	1.819000|1.819000	0.53055|0.53055	0.402000|0.402000	0.26972|0.26972	AAT|TGA		PASS	0.602	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		30	62	30	62	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132549312	132549312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr12:132549312C>T	ENST00000333577.4	+	49	8651	c.8542C>T	c.(8542-8544)Caa>Taa	p.Q2848*	EP400_ENST00000332482.4_Nonsense_Mutation_p.Q2775*|EP400_ENST00000330386.6_Nonsense_Mutation_p.Q2731*|EP400_ENST00000389562.2_Nonsense_Mutation_p.Q2811*|EP400_ENST00000389561.2_Nonsense_Mutation_p.Q2812*			Q96L91	EP400_HUMAN	E1A binding protein p400	2848					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2811*(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCCCAAGTGCAAGTGCAGAC	0.677																																						uc001ujn.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8434-8436)CAA>TAA		E1A binding protein p400							27.0	40.0	36.0					12																	132549312		2199	4298	6497	SO:0001587	stop_gained	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132549312C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8542C>T	12.37:g.132549312C>T	ENSP00000333602:p.Gln2848*					EP400_uc001ujl.2_Nonsense_Mutation_p.Q2811*|EP400_uc001ujm.2_Nonsense_Mutation_p.Q2731*|EP400_uc001ujp.2_Nonsense_Mutation_p.Q29*	p.Q2812*	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	47	8469	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2848					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Nonsense_Mutation	SNP	ENST00000333577.4	37	c.8434C>T		.	.	.	.	.	.	.	.	.	.	C	49	15.111003	0.99822	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	.	.	.	4.97	4.07	0.47477	.	0.127730	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.2544	0.66040	0.1505:0.8495:0.0:0.0	.	.	.	.	X	2848;2812;2811;2775;2731;2812	.	ENSP00000330620:Q2731X	Q	+	1	0	EP400	131115265	1.000000	0.71417	0.663000	0.29738	0.309000	0.27889	6.740000	0.74832	1.072000	0.40860	0.491000	0.48974	CAA		PASS	0.677	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		19	34	19	34	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29608252	29608252	+	Silent	SNP	C	C	A	rs186190059	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:29608252C>A	ENST00000431530.3	+	2	2524	c.2466C>A	c.(2464-2466)tcC>tcA	p.S822S		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	812	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.S822S(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTACAGTTCCGATCCTTCAG	0.463																																						uc001usl.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2464-2466)TCC>TCA		hypothetical protein LOC23281 isoform a							102.0	105.0	104.0					13																	29608252		2099	4212	6311	SO:0001819	synonymous_variant	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608252C>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2466C>A	13.37:g.29608252C>A							p.S822S	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			2	2524	+			812			Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	ENST00000431530.3	37	c.2466C>A	CCDS45022.1																																																																																				PASS	0.463	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		12	24	12	24	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32920973	32920973	+	Missense_Mutation	SNP	A	A	G	rs398122571		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:32920973A>G	ENST00000380152.3	+	13	7180	c.6947A>G	c.(6946-6948)aAa>aGa	p.K2316R	BRCA2_ENST00000544455.1_Missense_Mutation_p.K2316R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2316					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.K2316R(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGCACAATAAAAGATCGAAGA	0.269			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(6946-6948)AAA>AGA	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							85.0	86.0	86.0					13																	32920973		2202	4294	6496	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32920973A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6947A>G	13.37:g.32920973A>G	ENSP00000369497:p.Lys2316Arg	TCGA Ovarian(8;0.087)					p.K2316R	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	13	7174	+		Lung SC(185;0.0262)	2316					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.6947A>G	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871414	0.72065	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.86297	-2.1;-2.1	5.03	5.03	0.67393	.	0.066994	0.56097	D	0.000028	D	0.90865	0.7130	M	0.78049	2.395	0.38675	D	0.952397	D	0.60160	0.987	P	0.56865	0.808	D	0.91883	0.5517	10	0.49607	T	0.09	.	11.1472	0.48436	1.0:0.0:0.0:0.0	.	2316	P51587	BRCA2_HUMAN	R	2316	ENSP00000369497:K2316R;ENSP00000439902:K2316R	ENSP00000369497:K2316R	K	+	2	0	BRCA2	31818973	1.000000	0.71417	0.973000	0.42090	0.866000	0.49608	4.590000	0.61013	1.887000	0.54652	0.528000	0.53228	AAA		PASS	0.269	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		10	51	10	51	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32944672	32944672	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:32944672T>C	ENST00000380152.3	+	19	8698	c.8465T>C	c.(8464-8466)aTt>aCt	p.I2822T	BRCA2_ENST00000544455.1_Missense_Mutation_p.I2822T			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2822					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.I2822T(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GATGTAATTATTCAAAGAGCA	0.343			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - Missense(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(8464-8466)ATT>ACT	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							140.0	124.0	129.0					13																	32944672		2203	4300	6503	SO:0001583	missense	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32944672T>C	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8465T>C	13.37:g.32944672T>C	ENSP00000369497:p.Ile2822Thr	TCGA Ovarian(8;0.087)					p.I2822T	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	19	8692	+		Lung SC(185;0.0262)	2822					O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8465T>C	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176954	0.57692	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.79554	-1.28;-1.28	5.19	5.19	0.71726	Nucleic acid-binding, OB-fold-like (1);	0.336764	0.29113	N	0.013114	T	0.78007	0.4216	L	0.38175	1.15	0.36196	D	0.850432	D	0.53619	0.961	P	0.47206	0.541	D	0.84788	0.0777	10	0.87932	D	0	.	15.0663	0.71999	0.0:0.0:0.0:1.0	.	2822	P51587	BRCA2_HUMAN	T	2822	ENSP00000369497:I2822T;ENSP00000439902:I2822T	ENSP00000369497:I2822T	I	+	2	0	BRCA2	31842672	1.000000	0.71417	0.696000	0.30242	0.918000	0.54935	7.975000	0.88055	1.961000	0.56991	0.454000	0.30748	ATT		PASS	0.343	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		46	67	46	67	---	---	---	---
ENOX1	55068	broad.mit.edu	37	13	43934079	43934079	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:43934079C>T	ENST00000261488.6	-	7	1074	c.497G>A	c.(496-498)gGt>gAt	p.G166D	ENOX1_ENST00000540032.1_De_novo_Start_OutOfFrame|ENOX1_ENST00000412891.1_Missense_Mutation_p.G166D|ENOX1_ENST00000482207.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	166	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.G166D(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGTAATATCACCGCACTGTTC	0.408																																						uc001uza.3																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(496-498)GGT>GAT		ecto-NOX disulfide-thiol exchanger 1							114.0	106.0	109.0					13																	43934079		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43934079C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.497G>A	13.37:g.43934079C>T	ENSP00000261488:p.Gly166Asp					ENOX1_uc001uzb.3_Missense_Mutation_p.G166D|ENOX1_uc001uzc.3_Missense_Mutation_p.G166D|ENOX1_uc010tfm.1_Translation_Start_Site	p.G166D	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	7	797	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	166			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.497G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698882	0.88830	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.46451	0.87;0.87	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.78464	0.4287	H	0.97158	3.95	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85024	0.0913	10	0.87932	D	0	1.3973	20.248	0.98401	0.0:1.0:0.0:0.0	.	166	Q8TC92	ENOX1_HUMAN	D	166	ENSP00000261488:G166D;ENSP00000415054:G166D	ENSP00000261488:G166D	G	-	2	0	ENOX1	42832079	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	5.734000	0.68580	2.790000	0.95986	0.655000	0.94253	GGT		PASS	0.408	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		17	86	17	86	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70413282	70413283	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:70413282_70413283GG>TT	ENST00000377844.4	-	6	1998_1999	c.1239_1240CC>AA	c.(1237-1242)gaCCta>gaAAta	p.413_414DL>EI	KLHL1_ENST00000545028.1_Missense_Mutation_p.220_221DL>EI	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	413					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.D413_L414>EI(1)|p.L414I(1)|p.D413E(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)		TGATTTTCTAGGTCAGCCAATA	0.307																																						uc001vip.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)		0						c.(1240-1242)CTA>ATA|c.(1237-1239)GAC>GAA		kelch-like 1 protein																																				SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70413282G>T|g.chr13:70413283G>T	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.1239_1240delinsTT	13.37:g.70413282_70413283delinsTT	ENSP00000367075:p.D413_L414delinsEI					KLHL1_uc010thm.1_Missense_Mutation_p.L353I|KLHL1_uc010thm.1_Missense_Mutation_p.D352E	p.L414I|p.D413E	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	6	2034|2033	-		Breast(118;0.000162)	414|413					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1240C>A|c.1239C>A	CCDS9445.1																																																																																				PASS	0.307	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		40|42	75	40	75	---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70514187	70514187	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:70514187G>T	ENST00000377844.4	-	4	1758	c.999C>A	c.(997-999)gcC>gcA	p.A333A	KLHL1_ENST00000545028.1_Silent_p.A140A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	333					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.H334N(1)|p.A333A(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)		TGTAGCTGTGGGCCACCTTCA	0.403																																						uc001vip.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(997-999)GCC>GCA		kelch-like 1 protein							73.0	67.0	69.0					13																	70514187		2203	4300	6503	SO:0001819	synonymous_variant	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70514187G>T	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.999C>A	13.37:g.70514187G>T						KLHL1_uc010thm.1_Silent_p.A272A	p.A333A	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	4	1793	-		Breast(118;0.000162)	333					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	ENST00000377844.4	37	c.999C>A	CCDS9445.1																																																																																				PASS	0.403	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		6	31	6	31	---	---	---	---
CLN5	1203	broad.mit.edu	37	13	77570191	77570191	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:77570191G>T	ENST00000377453.3	+	3	1933	c.641G>T	c.(640-642)tGc>tTc	p.C214F	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	165					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)	p.C214F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GGCGCTGCCTGCTTTTTTGAG	0.403																																						uc001vkc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(640-642)TGC>TTC		ceroid-lipofuscinosis, neuronal 5							157.0	149.0	152.0					13																	77570191		2203	4300	6503	SO:0001583	missense	1203				brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr13:77570191G>T		CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.641G>T	13.37:g.77570191G>T	ENSP00000366673:p.Cys214Phe						p.C214F	NM_006493	NP_006484	O75503	CLN5_HUMAN		GBM - Glioblastoma multiforme(99;0.0503)	3	669	+		Acute lymphoblastic leukemia(28;0.205)	165					B3KQK7	Missense_Mutation	SNP	ENST00000377453.3	37	c.641G>T	CCDS9456.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.010286	0.93346	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.91237	-2.81	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.95462	0.8526	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95354	0.8449	10	0.59425	D	0.04	-20.9576	19.3321	0.94295	0.0:0.0:1.0:0.0	.	165	O75503	CLN5_HUMAN	F	214;165;80	ENSP00000366673:C214F	ENSP00000366673:C214F	C	+	2	0	CLN5	76468192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.581000	0.87130	0.655000	0.94253	TGC		PASS	0.403	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045318.1	NM_006493		24	167	24	167	---	---	---	---
SCEL	8796	broad.mit.edu	37	13	78173468	78173468	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:78173468C>A	ENST00000349847.3	+	14	886	c.802C>A	c.(802-804)Caa>Aaa	p.Q268K	SCEL_ENST00000469982.1_Intron|SCEL_ENST00000535157.1_Missense_Mutation_p.Q246K|SCEL-AS1_ENST00000456280.2_RNA|SCEL_ENST00000377246.3_Missense_Mutation_p.Q248K|SCEL-AS1_ENST00000457528.2_RNA	NM_144777.2	NP_659001.2	O95171	SCEL_HUMAN	sciellin	268	16 X approximate tandem repeats.				embryo development (GO:0009790)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	zinc ion binding (GO:0008270)	p.Q268*(1)|p.Q268K(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TTAAAGGAATCAAGGTCTTGA	0.343																																						uc001vki.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		large_intestine(1)|lung(1)	ovary(4)|breast(1)	5						c.(802-804)CAA>AAA		sciellin isoform 1							64.0	61.0	62.0					13																	78173468		2203	4300	6503	SO:0001583	missense	8796				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding	g.chr13:78173468C>A	AF045941	CCDS9458.1, CCDS9459.1, CCDS53877.1	13q22	2008-07-18			ENSG00000136155	ENSG00000136155			10573	protein-coding gene	gene with protein product		604112				9813070	Standard	NM_003843		Approved	FLJ21667, MGC22531	uc001vki.3	O95171	OTTHUMG00000017107	ENST00000349847.3:c.802C>A	13.37:g.78173468C>A	ENSP00000302579:p.Gln268Lys					SCEL_uc001vkj.2_Missense_Mutation_p.Q248K|SCEL_uc010thx.1_Missense_Mutation_p.Q246K	p.Q268K	NM_144777	NP_659001	O95171	SCEL_HUMAN		GBM - Glioblastoma multiforme(99;0.0233)	14	972	+		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)	268			2.|16 X approximate tandem repeats.		B7Z797|F5H651|Q53H61|Q5W0S8|Q5W0S9|Q86X00	Missense_Mutation	SNP	ENST00000349847.3	37	c.802C>A	CCDS9459.1	.	.	.	.	.	.	.	.	.	.	C	18.98	3.737269	0.69304	.	.	ENSG00000136155	ENST00000348770;ENST00000535157;ENST00000377246;ENST00000349847	T;T;T	0.28255	1.62;1.62;1.62	5.56	4.71	0.59529	.	0.000000	0.56097	D	0.000039	T	0.45054	0.1323	L	0.41415	1.275	0.30258	N	0.793448	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.77557	0.984;0.98;0.99	T	0.47433	-0.9118	10	0.66056	D	0.02	-8.0801	12.2508	0.54597	0.1698:0.8302:0.0:0.0	.	246;248;268	F5H651;O95171-2;O95171	.;.;SCEL_HUMAN	K	225;246;248;268	ENSP00000437895:Q246K;ENSP00000366454:Q248K;ENSP00000302579:Q268K	ENSP00000315127:Q225K	Q	+	1	0	SCEL	77071469	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.018000	0.40991	1.477000	0.48234	0.650000	0.86243	CAA		PASS	0.343	SCEL-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045339.2	NM_144777		19	33	19	33	---	---	---	---
SLAIN1	122060	broad.mit.edu	37	13	78334967	78334967	+	Silent	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:78334967A>T	ENST00000466548.1	+	7	1379	c.1353A>T	c.(1351-1353)ccA>ccT	p.P451P	SLAIN1_ENST00000488699.1_Silent_p.P309P|SLAIN1_ENST00000267219.8_Silent_p.P232P|SLAIN1_ENST00000314070.5_Silent_p.P74P|SLAIN1_ENST00000418532.1_Silent_p.P232P|SLAIN1_ENST00000351546.3_Silent_p.P188P|SLAIN1_ENST00000358679.3_Silent_p.P188P	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	451								p.P232P(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		TTCTAGTTCCATCACCGGGAC	0.473																																						uc010thy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(925-927)CCA>CCT		SLAIN motif family, member 1 B							100.0	96.0	97.0					13																	78334967		2203	4300	6503	SO:0001819	synonymous_variant	122060							g.chr13:78334967A>T	AK054608	CCDS9460.1, CCDS31995.1, CCDS31995.2, CCDS55901.1, CCDS73588.1, CCDS73589.1	13q22.3	2006-09-12	2006-09-12	2006-09-12	ENSG00000139737	ENSG00000139737			26387	protein-coding gene	gene with protein product		610491	"""chromosome 13 open reading frame 32"""	C13orf32		16546155	Standard	NM_001040153		Approved	FLJ30046	uc001vkk.3	Q8ND83	OTTHUMG00000017110	ENST00000466548.1:c.1353A>T	13.37:g.78334967A>T						SLAIN1_uc001vkk.1_Silent_p.P232P|SLAIN1_uc001vkl.1_Silent_p.P188P|SLAIN1_uc010thz.1_Silent_p.P187P|SLAIN1_uc010aex.1_Silent_p.P74P|SLAIN1_uc010aey.1_Silent_p.P74P|SLAIN1_uc001vkm.2_Silent_p.P188P	p.P309P	NM_144595	NP_653196	Q8ND83	SLAI1_HUMAN		GBM - Glioblastoma multiforme(99;0.0853)	6	970	+		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)	451					A8K0Z9|B7Z209|Q5T6P4|Q5T6P7|Q8ND10|Q96NV0	Silent	SNP	ENST00000466548.1	37	c.927A>T																																																																																					PASS	0.473	SLAIN1-009	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000355018.1	NM_144595		64	80	64	80	---	---	---	---
POU4F1	5457	broad.mit.edu	37	13	79176554	79176554	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:79176554T>C	ENST00000377208.5	-	2	467	c.256A>G	c.(256-258)Aac>Gac	p.N86D	RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000606429.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	86					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	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 (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.N86D(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GGCACGCTGTTCATCGTGTGG	0.687																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(256-258)AAC>GAC		POU domain, class 4, transcription factor 1							52.0	31.0	38.0					13																	79176554		2197	4298	6495	SO:0001583	missense	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79176554T>C	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.256A>G	13.37:g.79176554T>C	ENSP00000366413:p.Asn86Asp					uc001vku.1_Intron	p.N86D	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	490	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	86					Q14986|Q15318|Q5T227	Missense_Mutation	SNP	ENST00000377208.5	37	c.256A>G	CCDS31996.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.893043	0.33442	.	.	ENSG00000152192	ENST00000377208	T	0.25912	1.77	3.26	3.26	0.37387	.	1.328270	0.06023	U	0.651690	T	0.22003	0.0530	L	0.34521	1.04	0.43130	D	0.994861	B	0.33694	0.421	B	0.27608	0.081	T	0.05500	-1.0881	10	0.51188	T	0.08	.	12.0247	0.53362	0.0:0.0:0.0:1.0	.	86	Q01851	PO4F1_HUMAN	D	86	ENSP00000366413:N86D	ENSP00000366413:N86D	N	-	1	0	POU4F1	78074555	1.000000	0.71417	0.998000	0.56505	0.002000	0.02628	7.355000	0.79434	1.476000	0.48215	0.454000	0.30748	AAC		PASS	0.687	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3			4	8	4	8	---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88327907	88327907	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:88327907G>T	ENST00000325089.6	+	2	483	c.264G>T	c.(262-264)ttG>ttT	p.L88F	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	88					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.L88F(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)					ACCTCTTGTTGTCCGGAAACC	0.453																																						uc001vln.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)	5						c.(262-264)TTG>TTT		SLIT and NTRK-like family, member 5 precursor							163.0	168.0	166.0					13																	88327907		2203	4300	6503	SO:0001583	missense	26050					integral to membrane		g.chr13:88327907G>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.264G>T	13.37:g.88327907G>T	ENSP00000366283:p.Leu88Phe					SLITRK5_uc010tic.1_Intron	p.L88F	NM_015567	NP_056382	O94991	SLIK5_HUMAN			2	483	+	all_neural(89;0.101)|Medulloblastoma(90;0.163)		88			LRR 1.|Extracellular (Potential).		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	ENST00000325089.6	37	c.264G>T	CCDS9465.1	.	.	.	.	.	.	.	.	.	.	G	11.61	1.690134	0.29962	.	.	ENSG00000165300	ENST00000325089	T	0.62639	0.01	5.94	3.31	0.37934	.	0.000000	0.64402	D	0.000004	T	0.68933	0.3055	M	0.72479	2.2	0.80722	D	1	D	0.54772	0.968	P	0.58013	0.831	T	0.65923	-0.6050	9	.	.	.	-7.4449	5.7325	0.18049	0.2209:0.1424:0.6367:0.0	.	88	O94991	SLIK5_HUMAN	F	88	ENSP00000366283:L88F	.	L	+	3	2	SLITRK5	87125908	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.134000	0.31442	0.430000	0.26230	0.561000	0.74099	TTG		PASS	0.453	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			36	221	36	221	---	---	---	---
GPC5	2262	broad.mit.edu	37	13	92101100	92101100	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:92101100G>C	ENST00000377067.3	+	2	621	c.249G>C	c.(247-249)caG>caC	p.Q83H		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	83					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.Q83H(3)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CGGCTCGCCAGGATATGCAGC	0.438																																						uc010tif.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5						c.(247-249)CAG>CAC		glypican 5 precursor							131.0	121.0	125.0					13																	92101100		2203	4300	6503	SO:0001583	missense	2262					anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chr13:92101100G>C	AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.249G>C	13.37:g.92101100G>C	ENSP00000366267:p.Gln83His						p.Q83H	NM_004466	NP_004457	P78333	GPC5_HUMAN			2	615	+	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)	83					B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	c.249G>C	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.383326	0.25031	.	.	ENSG00000179399	ENST00000377067	T	0.51574	0.7	5.5	-1.33	0.09172	.	0.117342	0.53938	D	0.000043	T	0.57784	0.2077	M	0.62723	1.935	0.27668	N	0.946842	D	0.65815	0.995	D	0.67231	0.95	T	0.55075	-0.8197	10	0.44086	T	0.13	.	11.1009	0.48174	0.554:0.0:0.446:0.0	.	83	P78333	GPC5_HUMAN	H	83	ENSP00000366267:Q83H	ENSP00000366267:Q83H	Q	+	3	2	GPC5	90899101	0.022000	0.18835	0.838000	0.33150	0.008000	0.06430	-0.665000	0.05286	-0.173000	0.10761	-0.373000	0.07131	CAG		PASS	0.438	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466		7	66	7	66	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101294518	101294518	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:101294518T>C	ENST00000376234.3	-	6	820	c.631A>G	c.(631-633)Atc>Gtc	p.I211V	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Missense_Mutation_p.I230V|TMTC4_ENST00000328767.5_Missense_Mutation_p.I100V	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	211						integral component of membrane (GO:0016021)		p.I230V(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCCAGAAAGATACTCAGCAGC	0.507																																						uc001vou.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(631-633)ATC>GTC		transmembrane and tetratricopeptide repeat							135.0	146.0	143.0					13																	101294518		2071	4208	6279	SO:0001583	missense	84899					integral to membrane	binding	g.chr13:101294518T>C		CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.631A>G	13.37:g.101294518T>C	ENSP00000365408:p.Ile211Val					TMTC4_uc001vot.2_Missense_Mutation_p.I230V|TMTC4_uc010tja.1_Missense_Mutation_p.I100V|TMTC4_uc001vow.1_5'UTR	p.I211V	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN			6	791	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		211			Helical; (Potential).		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	ENST00000376234.3	37	c.631A>G	CCDS41904.1	.	.	.	.	.	.	.	.	.	.	T	4.293	0.053579	0.08291	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.57752	0.38;0.38;1.21	5.72	3.36	0.38483	.	0.160462	0.53938	D	0.000052	T	0.30854	0.0778	N	0.20610	0.595	0.49915	D	0.99983	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.12837	0.002;0.002;0.008	T	0.06110	-1.0845	10	0.13470	T	0.59	.	6.6873	0.23152	0.0:0.2751:0.0:0.7249	.	100;211;230	B7Z666;Q5T4D3;Q5T4D3-3	.;TMTC4_HUMAN;.	V	211;230;100	ENSP00000365408:I211V;ENSP00000343871:I230V;ENSP00000365409:I100V	ENSP00000365409:I100V	I	-	1	0	TMTC4	100092519	0.999000	0.42202	0.461000	0.27105	0.709000	0.40893	1.204000	0.32296	1.016000	0.39470	0.460000	0.39030	ATC		PASS	0.507	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045649.2	NM_032813		19	148	19	148	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103519152	103519152	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:103519152G>T	ENST00000355739.4	+	11	3913	c.2490G>T	c.(2488-2490)aaG>aaT	p.K830N	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.V1256F|ERCC5_ENST00000375954.1_Missense_Mutation_p.K63N	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	830	I-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.K830N(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATAAAAACAAGTTTGTAGAAT	0.373			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(2488-2490)AAG>AAT	Direct_reversal_of_damage|NER	XPG-complementing protein							31.0	34.0	33.0					13																	103519152		2202	4300	6502	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103519152G>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2490G>T	13.37:g.103519152G>T	ENSP00000347978:p.Lys830Asn					ERCC5_uc001vpu.1_Missense_Mutation_p.K1284N|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.K662N	p.K830N	NM_000123	NP_000114	P28715	ERCC5_HUMAN			11	2933	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		830			I-domain.		A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.2490G>T	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.852112	0.71719	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955;ENST00000375954	T;T	0.70282	-0.47;-0.47	5.77	3.14	0.36123	XPG/RAD2 endonuclease (2);	0.000000	0.85682	D	0.000000	T	0.79805	0.4509	M	0.71296	2.17	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.998	T	0.76526	-0.2927	10	0.49607	T	0.09	-30.1346	7.5356	0.27708	0.448:0.0:0.552:0.0	.	830;1255	P28715;Q59FZ7	ERCC5_HUMAN;.	N	1255;830;662;63	ENSP00000347978:K830N;ENSP00000365121:K63N	ENSP00000347978:K830N	K	+	3	2	ERCC5	102317153	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.577000	0.36515	0.384000	0.24942	0.655000	0.94253	AAG		PASS	0.373	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			14	32	14	32	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111098175	111098175	+	Splice_Site	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr13:111098175G>T	ENST00000360467.5	+	17	1263		c.e17-1			NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						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.?(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)			CTTTCTTGCAGGGAAGCCGAG	0.458																																						uc001vqx.2																			1	Unknown(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.e17-1		alpha 2 type IV collagen preproprotein							102.0	103.0	103.0					13																	111098175		1884	4103	5987	SO:0001630	splice_region_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111098175G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.958-1G>T	13.37:g.111098175G>T							p.G320_splice	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		17	1247	+	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)						Q14052|Q548C3|Q5VZA9|Q66K23	Splice_Site	SNP	ENST00000360467.5	37	c.958_splice	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315390	0.60524	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7617	0.51908	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL4A2	109896176	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	3.423000	0.52756	2.479000	0.83701	0.643000	0.83706	.		PASS	0.458	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	Intron	76	80	76	80	---	---	---	---
OR4K2	390431	broad.mit.edu	37	14	20345275	20345275	+	Missense_Mutation	SNP	C	C	A	rs74597543	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:20345275C>A	ENST00000298642.2	+	1	885	c.849C>A	c.(847-849)aaC>aaA	p.N283K		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N283K(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCACTCTGAACCCAATAATCT	0.368																																						uc001vwh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(847-849)AAC>AAA		olfactory receptor, family 4, subfamily K,							108.0	113.0	111.0					14																	20345275		2203	4300	6503	SO:0001583	missense	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20345275C>A		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.849C>A	14.37:g.20345275C>A	ENSP00000298642:p.Asn283Lys						p.N283K	NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	849	+	all_cancers(95;0.00108)		283			Helical; Name=7; (Potential).		B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	c.849C>A	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	10.68	1.417065	0.25552	.	.	ENSG00000165762	ENST00000298642	T	0.59364	0.27	5.16	-1.52	0.08637	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000056	T	0.70334	0.3212	M	0.82517	2.595	0.36441	D	0.86547	D	0.89917	1.0	D	0.97110	1.0	T	0.71269	-0.4643	10	0.87932	D	0	.	6.209	0.20617	0.0:0.3499:0.1348:0.5154	.	283	Q8NGD2	OR4K2_HUMAN	K	283	ENSP00000298642:N283K	ENSP00000298642:N283K	N	+	3	2	OR4K2	19415115	0.202000	0.23423	0.985000	0.45067	0.054000	0.15201	-0.577000	0.05847	-0.196000	0.10366	-0.229000	0.12294	AAC		PASS	0.368	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			27	61	27	61	---	---	---	---
OR4K1	79544	broad.mit.edu	37	14	20404190	20404190	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:20404190G>C	ENST00000285600.4	+	1	424	c.365G>C	c.(364-366)aGa>aCa	p.R122T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GCATATGACAGATTTATAGCC	0.443																																						uc001vwj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(364-366)AGA>ACA		olfactory receptor, family 4, subfamily K,							135.0	130.0	131.0					14																	20404190		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404190G>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.365G>C	14.37:g.20404190G>C	ENSP00000285600:p.Arg122Thr						p.R122T	NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	365	+	all_cancers(95;0.00108)		122			Cytoplasmic (Potential).		B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.365G>C	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	22.1	4.241065	0.79912	.	.	ENSG00000155249	ENST00000285600	T	0.77489	-1.1	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000024	D	0.93275	0.7857	H	0.99475	4.585	0.39545	D	0.968875	D	0.89917	1.0	D	0.74674	0.984	D	0.96388	0.9287	10	0.87932	D	0	.	15.7026	0.77552	0.0:0.0:1.0:0.0	.	122	Q8NGD4	OR4K1_HUMAN	T	122	ENSP00000285600:R122T	ENSP00000285600:R122T	R	+	2	0	OR4K1	19474030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.709000	0.91379	2.557000	0.86248	0.655000	0.94253	AGA		PASS	0.443	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			41	88	41	88	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20444145	20444145	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:20444145C>A	ENST00000305051.5	+	1	543	c.468C>A	c.(466-468)taC>taA	p.Y156*		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y156*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCTCCACTACATGACAGTCA	0.458																																						uc010tkx.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(466-468)TAC>TAA		olfactory receptor, family 4, subfamily K,							164.0	153.0	157.0					14																	20444145		2203	4299	6502	SO:0001587	stop_gained	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444145C>A		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.468C>A	14.37:g.20444145C>A	ENSP00000304077:p.Tyr156*						p.Y156*	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	468	+	all_cancers(95;0.00108)		156			Cytoplasmic (Potential).		B9EIL3|Q6IEZ4	Nonsense_Mutation	SNP	ENST00000305051.5	37	c.468C>A	CCDS32026.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.984470	0.74474	.	.	ENSG00000169488	ENST00000305051	.	.	.	3.8	0.776	0.18532	.	0.000000	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8126	0.29241	0.0:0.6883:0.0:0.3117	.	.	.	.	X	156	.	ENSP00000304077:Y156X	Y	+	3	2	OR4K15	19513985	0.000000	0.05858	0.997000	0.53966	0.638000	0.38207	-0.781000	0.04648	0.263000	0.21812	0.585000	0.79938	TAC		PASS	0.458	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			66	117	66	117	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20482683	20482683	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:20482683G>T	ENST00000305045.2	-	1	669	c.670C>A	c.(670-672)Ctc>Atc	p.L224I		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L224I(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CTGATAGCGAGGAGGATCACG	0.493																																						uc010tky.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(670-672)CTC>ATC		olfactory receptor, family 4, subfamily K,							91.0	76.0	81.0					14																	20482683		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482683G>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.670C>A	14.37:g.20482683G>T	ENSP00000305011:p.Leu224Ile						p.L224I	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	670	-	all_cancers(95;0.00108)		224			Cytoplasmic (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.670C>A	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.733360	0.00687	.	.	ENSG00000169484	ENST00000305045	T	0.37752	1.18	4.04	-0.849	0.10723	GPCR, rhodopsin-like superfamily (1);	0.575120	0.14488	N	0.316546	T	0.14874	0.0359	N	0.11818	0.18	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.15954	-1.0419	10	0.25751	T	0.34	.	2.6921	0.05124	0.1331:0.4526:0.205:0.2093	.	224	Q8NGD5	OR4KE_HUMAN	I	224	ENSP00000305011:L224I	ENSP00000305011:L224I	L	-	1	0	OR4K14	19552523	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-3.902000	0.00338	-0.059000	0.13154	0.505000	0.49811	CTC		PASS	0.493	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			8	34	8	34	---	---	---	---
TRAV3	28690	broad.mit.edu	37	14	22192539	22192539	+	RNA	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:22192539C>A	ENST00000390425.2	+	0	490									T cell receptor alpha variable 3 (gene/pseudogene)																		GTGAGCGACTCCGCTTTGTAC	0.488																																						uc001wbn.2																			0													Homo sapiens mRNA for T cell receptor alpha variable 3, partial cds, clone: SEB 36.							48.0	49.0	49.0					14																	22192539		2106	4217	6323			0							g.chr14:22192539C>A	AE000658		14q11.2	2012-02-07	2008-09-12		ENSG00000211777	ENSG00000211777		"""T cell receptors / TRA locus"""	12128	other	T cell receptor gene			"""T cell receptor alpha variable 3"""			8188290	Standard	NG_001332		Approved				OTTHUMG00000168981		14.37:g.22192539C>A														2		+									RNA	SNP	ENST00000390425.2	37	c.442C>A																																																																																					PASS	0.488	TRAV3-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401876.1	NG_001332		16	33	16	33	---	---	---	---
HEATR5A	25938	broad.mit.edu	37	14	31774224	31774224	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:31774224C>T	ENST00000389961.3	-	31	5107	c.5108G>A	c.(5107-5109)gGt>gAt	p.G1703D	HEATR5A_ENST00000543095.2_Missense_Mutation_p.G1709D|HEATR5A_ENST00000439348.1_Missense_Mutation_p.G1703D|RP11-596D21.1_ENST00000551799.1_RNA|HEATR5A_ENST00000439727.1_Missense_Mutation_p.G1416D			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1703								p.G1703D(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TCCTGGGCTACCTGTCAATTT	0.438																																						uc001wrf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(4246-4248)GGT>GAT		HEAT repeat containing 5A							150.0	144.0	146.0					14																	31774224		1890	4125	6015	SO:0001583	missense	25938						binding	g.chr14:31774224C>T	AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.5108G>A	14.37:g.31774224C>T	ENSP00000374611:p.Gly1703Asp					HEATR5A_uc010ami.2_Missense_Mutation_p.G1314D	p.G1416D	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)	26	4324	-	Hepatocellular(127;0.0877)|Breast(36;0.137)		1703					Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	ENST00000389961.3	37	c.4247G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.25|17.25	3.340763|3.340763	0.60963|0.60963	.|.	.|.	ENSG00000129493|ENSG00000129493	ENST00000389961;ENST00000439348;ENST00000439727;ENST00000543095|ENST00000538864	T;T;T;T|.	0.67865|.	0.97;-0.29;0.97;0.97|.	5.92|5.92	5.04|5.04	0.67666|0.67666	.|.	0.152328|.	0.56097|.	D|.	0.000021|.	T|T	0.49047|0.49047	0.1534|0.1534	N|N	0.16790|0.16790	0.44|0.44	0.80722|0.80722	D|D	1|1	B|.	0.16166|.	0.016|.	B|.	0.17979|.	0.02|.	T|T	0.44528|0.44528	-0.9322|-0.9322	10|5	0.13470|.	T|.	0.59|.	.|.	15.0674|15.0674	0.72008|0.72008	0.0:0.9322:0.0:0.0678|0.0:0.9322:0.0:0.0678	.|.	1703|.	Q86XA9-2|.	.|.	D|I	1703;1703;1416;1709|1337	ENSP00000374611:G1703D;ENSP00000405407:G1703D;ENSP00000408681:G1416D;ENSP00000437968:G1709D|.	ENSP00000374611:G1703D|.	G|V	-|-	2|1	0|0	HEATR5A|HEATR5A	30843975|30843975	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.988000|0.988000	0.76386|0.76386	4.800000|4.800000	0.62524|0.62524	1.529000|1.529000	0.49120|0.49120	0.655000|0.655000	0.94253|0.94253	GGT|GTA		PASS	0.438	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015473		36	68	36	68	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36096989	36096989	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:36096989G>A	ENST00000389698.3	-	33	5036	c.4646C>T	c.(4645-4647)cCt>cTt	p.P1549L	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1549L|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P1596L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1562L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1549	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.P1549L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAGAGTTCAGGAGAAAGTTC	0.418																																						uc001wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(4645-4647)CCT>CTT		Ral GTPase activating protein, alpha subunit 1							36.0	36.0	36.0					14																	36096989		2202	4294	6496	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36096989G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4646C>T	14.37:g.36096989G>A	ENSP00000374348:p.Pro1549Leu					RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.P1549L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.P1562L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1596L	p.P1549L	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			33	5037	-			1549			Minimal domain that binds to TCF3/E12 (By similarity).		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.4646C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012306	0.54468	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	D;D;D;D;D;D	0.96716	-3.39;-3.39;-3.4;-4.1;-3.39;-3.4	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.97362	0.9137	L	0.46157	1.445	0.80722	D	1	D;B;P;B	0.89917	1.0;0.402;0.811;0.23	D;B;B;B	0.91635	0.999;0.106;0.423;0.032	D	0.97264	0.9906	10	0.49607	T	0.09	-14.7119	19.8741	0.96863	0.0:0.0:1.0:0.0	.	1596;1562;1549;1549	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	L	1549;1549;1549;1596;187;1562;1596	ENSP00000374348:P1549L;ENSP00000302647:P1549L;ENSP00000258840:P1596L;ENSP00000451133:P187L;ENSP00000371803:P1562L;ENSP00000451877:P1596L	ENSP00000258840:P1596L	P	-	2	0	RALGAPA1	35166740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.747000	0.98863	2.761000	0.94854	0.655000	0.94253	CCT		PASS	0.418	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		28	43	28	43	---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42356450	42356450	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:42356450C>G	ENST00000298119.4	+	3	1811	c.622C>G	c.(622-624)Cag>Gag	p.Q208E	LRFN5_ENST00000554171.1_Missense_Mutation_p.Q208E|LRFN5_ENST00000554120.1_Missense_Mutation_p.Q208E	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	208						integral component of membrane (GO:0016021)		p.Q208E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAATAAATTGCAGAAGCTACC	0.428										HNSCC(30;0.082)																												uc001wvm.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(2)|central_nervous_system(1)	8						c.(622-624)CAG>GAG		leucine rich repeat and fibronectin type III							69.0	65.0	67.0					14																	42356450		2203	4300	6503	SO:0001583	missense	145581					integral to membrane		g.chr14:42356450C>G	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.622C>G	14.37:g.42356450C>G	ENSP00000298119:p.Gln208Glu	HNSCC(30;0.082)				LRFN5_uc010ana.2_Missense_Mutation_p.Q208E	p.Q208E	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)	3	1820	+			208			Extracellular (Potential).|LRR 7.		B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	c.622C>G	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.176971	0.57692	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.51325	0.71;0.71;0.71	5.56	5.56	0.83823	.	0.000000	0.53938	D	0.000054	T	0.41026	0.1141	N	0.13003	0.285	0.80722	D	1	B;P	0.47604	0.312;0.898	B;P	0.49922	0.205;0.626	T	0.14727	-1.0462	10	0.17369	T	0.5	.	17.0193	0.86429	0.0:1.0:0.0:0.0	.	208;208	G3V364;Q96NI6	.;LRFN5_HUMAN	E	208	ENSP00000298119:Q208E;ENSP00000451897:Q208E;ENSP00000451067:Q208E	ENSP00000298119:Q208E	Q	+	1	0	LRFN5	41426200	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.806000	0.86020	2.595000	0.87683	0.650000	0.86243	CAG		PASS	0.428	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447		31	66	31	66	---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45658089	45658089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:45658089G>T	ENST00000267430.5	+	20	4949	c.4864G>T	c.(4864-4866)Gaa>Taa	p.E1622*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.E1596*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1622					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)	p.E1622*(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGTGAAGAAGAAGTTTGTGT	0.323								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc001wwd.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(2)|breast(2)	7						c.(4864-4866)GAA>TAA	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group M							86.0	88.0	88.0					14																	45658089		2203	4298	6501	SO:0001587	stop_gained	57697	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45658089G>T	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4864G>T	14.37:g.45658089G>T	ENSP00000267430:p.Glu1622*					FANCM_uc010anf.2_Nonsense_Mutation_p.E1596*|FANCM_uc001wwe.3_Nonsense_Mutation_p.E1158*|FANCM_uc010ang.2_Nonsense_Mutation_p.E836*	p.E1622*	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN			20	4963	+			1622					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Nonsense_Mutation	SNP	ENST00000267430.5	37	c.4864G>T	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.668864|6.668864	0.97747|0.97747	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.317296|.	0.32785|.	N|.	0.005654|.	.|T	.|0.75110	.|0.3805	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72367	.|-0.4315	.|3	0.62326|.	D|.	0.03|.	.|.	18.6901|18.6901	0.91580|0.91580	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	1622;1596;1138|554	.|.	ENSP00000267430:E1622X|.	E|R	+|+	1|2	0|0	FANCM|FANCM	44727839|44727839	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.849000|6.849000	0.75414|0.75414	2.834000|2.834000	0.97654|0.97654	0.650000|0.650000	0.86243|0.86243	GAA|AGA		PASS	0.323	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		39	59	39	59	---	---	---	---
MGAT2	4247	broad.mit.edu	37	14	50088626	50088626	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:50088626G>T	ENST00000305386.2	+	1	1138	c.640G>T	c.(640-642)Gag>Tag	p.E214*	RPL36AL_ENST00000298289.6_5'Flank|RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	214					cellular protein metabolic process (GO:0044267)|oligosaccharide biosynthetic process (GO:0009312)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0008455)|carbohydrate binding (GO:0030246)	p.E214*(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CATCAATGCTGAGTATCCCGA	0.483																																						uc001wwr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(640-642)GAG>TAG		mannosyl (alpha-1,6-)-glycoprotein							108.0	105.0	106.0					14																	50088626		2203	4300	6503	SO:0001587	stop_gained	4247				oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity	g.chr14:50088626G>T	U15128	CCDS9690.1	14q21	2013-02-25			ENSG00000168282	ENSG00000168282	2.4.1.143	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7045	protein-coding gene	gene with protein product		602616				7635144	Standard	NM_002408		Approved	GNT-II	uc001wwr.3	Q10469	OTTHUMG00000140271	ENST00000305386.2:c.640G>T	14.37:g.50088626G>T	ENSP00000307423:p.Glu214*					SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	p.E214*	NM_002408	NP_002399	Q10469	MGAT2_HUMAN			1	1138	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		214			Lumenal (Potential).		B3KPC5|B3KQM0	Nonsense_Mutation	SNP	ENST00000305386.2	37	c.640G>T	CCDS9690.1	.	.	.	.	.	.	.	.	.	.	G	40	8.394135	0.98791	.	.	ENSG00000168282	ENST00000305386;ENST00000504161	.	.	.	6.0	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-17.6308	11.0703	0.47999	0.0698:0.1297:0.8005:0.0	.	.	.	.	X	214;220	.	ENSP00000307423:E214X	E	+	1	0	MGAT2	49158376	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	9.453000	0.97619	1.557000	0.49525	0.555000	0.69702	GAG		PASS	0.483	MGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276807.1	NM_002408		61	85	61	85	---	---	---	---
NIN	51199	broad.mit.edu	37	14	51259444	51259444	+	Missense_Mutation	SNP	C	C	G	rs143800977		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:51259444C>G	ENST00000382041.3	-	5	611	c.421G>C	c.(421-423)Ggt>Cgt	p.G141R	NIN_ENST00000486200.1_5'UTR|NIN_ENST00000389868.3_Missense_Mutation_p.G141R|NIN_ENST00000324330.9_Missense_Mutation_p.G141R|NIN_ENST00000530997.2_Missense_Mutation_p.G141R|NIN_ENST00000245441.5_Missense_Mutation_p.G141R|NIN_ENST00000453196.1_Missense_Mutation_p.G141R|NIN_ENST00000382043.4_Missense_Mutation_p.G141R	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	141					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.G141R(2)|p.G147R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTGCAGTCACCGGCTGGGATG	0.582			T	PDGFRB	MPD																																	uc001wym.2				Dom	yes		14	14q24	51199	T	ninein (GSK3B interacting protein)			L	PDGFRB		MPD		3	Substitution - Missense(3)		lung(3)	skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6						c.(421-423)GGT>CGT		ninein isoform 5							106.0	83.0	91.0					14																	51259444		2203	4300	6503	SO:0001583	missense	51199				centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	g.chr14:51259444C>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.421G>C	14.37:g.51259444C>G	ENSP00000371472:p.Gly141Arg					NIN_uc001wyi.2_Missense_Mutation_p.G141R|NIN_uc001wyj.2_RNA|NIN_uc001wyk.2_Missense_Mutation_p.G141R|NIN_uc010tqp.1_Missense_Mutation_p.G147R|NIN_uc001wyo.2_Missense_Mutation_p.G141R|NIN_uc001wyp.1_Missense_Mutation_p.G103R	p.G141R	NM_182946	NP_891991	Q8N4C6	NIN_HUMAN			5	612	-	all_epithelial(31;0.00244)|Breast(41;0.127)		141					A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	c.421G>C	CCDS32079.1	.	.	.	.	.	.	.	.	.	.	T	7.099	0.573754	0.13623	.	.	ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000389868;ENST00000382043;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196;ENST00000453401	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	6.07	-0.281	0.12882	.	0.765479	0.12688	N	0.447437	T	0.10594	0.0259	N	0.03115	-0.41	0.09310	N	1	B;B;P;B;P	0.39311	0.021;0.002;0.485;0.003;0.667	B;B;B;B;P	0.45946	0.052;0.006;0.238;0.002;0.498	T	0.34625	-0.9821	10	0.15952	T	0.53	0.2186	7.5339	0.27700	0.0:0.4902:0.1336:0.3762	.	147;141;141;141;141	Q8N4C6-5;C9J066;Q8N4C6;Q5BKU3;Q8N4C6-7	.;.;NIN_HUMAN;.;.	R	141;141;141;141;147;141;141;141;103	ENSP00000245441:G141R;ENSP00000374518:G141R;ENSP00000371474:G141R;ENSP00000371472:G141R;ENSP00000324210:G141R;ENSP00000412391:G141R;ENSP00000398641:G103R	ENSP00000245441:G141R	G	-	1	0	NIN	50329194	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-0.391000	0.07323	-0.550000	0.06183	-0.982000	0.02568	GGT		PASS	0.582	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	NM_182946		21	32	21	32	---	---	---	---
PYGL	5836	broad.mit.edu	37	14	51398409	51398409	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:51398409C>A	ENST00000216392.7	-	4	842	c.510G>T	c.(508-510)aaG>aaT	p.K170N	PYGL_ENST00000532462.1_Missense_Mutation_p.K170N|PYGL_ENST00000544180.2_Missense_Mutation_p.K136N	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	170					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)	p.K170N(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	CATCTCGGATCTTCTGATTGA	0.423																																						uc001wyu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(508-510)AAG>AAT		liver glycogen phosphorylase isoform 1	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)						114.0	106.0	109.0					14																	51398409		2203	4300	6503	SO:0001583	missense	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51398409C>A		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.510G>T	14.37:g.51398409C>A	ENSP00000216392:p.Lys170Asn					PYGL_uc010tqq.1_Missense_Mutation_p.K136N|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.K170N	p.K170N	NM_002863	NP_002854	P06737	PYGL_HUMAN			4	637	-	all_epithelial(31;0.00825)|Breast(41;0.148)		170					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Missense_Mutation	SNP	ENST00000216392.7	37	c.510G>T	CCDS32080.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773745	0.69992	.	.	ENSG00000100504	ENST00000532462;ENST00000544180;ENST00000216392	D;D;D	0.93307	-3.2;-3.2;-3.2	5.66	3.86	0.44501	.	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	M	0.76574	2.34	0.80722	D	1	P;B;B	0.47484	0.896;0.117;0.265	P;B;B	0.51355	0.667;0.085;0.077	D	0.91150	0.4952	10	0.27082	T	0.32	-9.9034	10.5918	0.45314	0.0:0.8426:0.0:0.1574	.	136;192;170	F5H816;Q6P1L4;P06737	.;.;PYGL_HUMAN	N	170;136;170	ENSP00000431657:K170N;ENSP00000443787:K136N;ENSP00000216392:K170N	ENSP00000216392:K170N	K	-	3	2	PYGL	50468159	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.778000	0.26732	0.868000	0.35678	-0.137000	0.14449	AAG		PASS	0.423	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	NM_002863		17	130	17	130	---	---	---	---
C14orf37	145407	broad.mit.edu	37	14	58471896	58471896	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:58471896C>A	ENST00000267485.7	-	7	2320	c.2126G>T	c.(2125-2127)gGt>gTt	p.G709V		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	709						integral component of membrane (GO:0016021)		p.G709V(1)		breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGACATGTAACCAGCCTGCAT	0.507																																						uc001xdc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2125-2127)GGT>GTT		hypothetical protein LOC145407 precursor							78.0	73.0	75.0					14																	58471896		2203	4300	6503	SO:0001583	missense	145407					integral to membrane	binding	g.chr14:58471896C>A		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.2126G>T	14.37:g.58471896C>A	ENSP00000267485:p.Gly709Val					C14orf37_uc010tro.1_Missense_Mutation_p.G747V|C14orf37_uc001xdd.2_Missense_Mutation_p.G709V	p.G709V	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN			7	2237	-			709			Extracellular (Potential).		A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	ENST00000267485.7	37	c.2126G>T	CCDS32089.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237651	0.79800	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.33654	1.4	5.95	5.95	0.96441	.	0.059881	0.64402	D	0.000003	T	0.59459	0.2195	L	0.58101	1.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.992;0.992	T	0.58440	-0.7636	10	0.87932	D	0	-8.0858	19.3848	0.94553	0.0:1.0:0.0:0.0	.	747;709;709	B4DMS4;A8K990;Q86TY3	.;.;CN037_HUMAN	V	709;747	ENSP00000267485:G709V	ENSP00000267485:G709V	G	-	2	0	C14orf37	57541649	1.000000	0.71417	0.999000	0.59377	0.894000	0.52154	6.859000	0.75467	2.829000	0.97493	0.655000	0.94253	GGT		PASS	0.507	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412059.1	NM_001001872		32	56	32	56	---	---	---	---
RTN1	6252	broad.mit.edu	37	14	60193708	60193708	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:60193708G>T	ENST00000267484.5	-	3	2029	c.1694C>A	c.(1693-1695)gCg>gAg	p.A565E		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	565					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)		p.A565E(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTTTGTGGCCGCAGGACTTTG	0.617																																						uc001xen.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1693-1695)GCG>GAG		reticulon 1 isoform A							23.0	25.0	24.0					14																	60193708		2203	4300	6503	SO:0001583	missense	6252				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	g.chr14:60193708G>T	L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.1694C>A	14.37:g.60193708G>T	ENSP00000267484:p.Ala565Glu					RTN1_uc001xem.1_Missense_Mutation_p.A145E	p.A565E	NM_021136	NP_066959	Q16799	RTN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0968)	3	1903	-			565					Q16800|Q16801|Q5BKZ4|Q9BQ59	Missense_Mutation	SNP	ENST00000267484.5	37	c.1694C>A	CCDS9740.1	.	.	.	.	.	.	.	.	.	.	G	0.091	-1.166694	0.01660	.	.	ENSG00000139970	ENST00000432103;ENST00000267484;ENST00000433623	T	0.24350	1.86	4.76	-9.36	0.00629	.	3.925960	0.00531	N	0.000202	T	0.09730	0.0239	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31392	-0.9945	10	0.02654	T	1	.	3.1537	0.06497	0.4605:0.0842:0.2864:0.1689	.	565	Q16799	RTN1_HUMAN	E	145;565;491	ENSP00000267484:A565E	ENSP00000267484:A565E	A	-	2	0	RTN1	59263461	0.022000	0.18835	0.000000	0.03702	0.003000	0.03518	0.394000	0.20834	-1.933000	0.01052	-1.595000	0.00837	GCG		PASS	0.617	RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2			4	9	4	9	---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61115903	61115903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:61115903G>T	ENST00000247182.6	-	1	277	c.5C>A	c.(4-6)tCg>tAg	p.S2*	SIX1_ENST00000554986.1_Intron	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	2					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.S2*(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		CGGCAGCATCGACATGGCTGG	0.726																																						uc001xfb.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(4-6)TCG>TAG		SIX homeobox 1							15.0	15.0	15.0					14																	61115903		2164	4227	6391	SO:0001587	stop_gained	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61115903G>T	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.5C>A	14.37:g.61115903G>T	ENSP00000247182:p.Ser2*						p.S2*	NM_005982	NP_005973	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	1	253	-			2					Q53Y16|Q96H64	Nonsense_Mutation	SNP	ENST00000247182.6	37	c.5C>A	CCDS9748.1	.	.	.	.	.	.	.	.	.	.	G	39	7.370314	0.98241	.	.	ENSG00000126778	ENST00000247182	.	.	.	5.5	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6498	14.4259	0.67215	0.0:0.0:0.8511:0.1489	.	.	.	.	X	2	.	ENSP00000247182:S2X	S	-	2	0	SIX1	60185656	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.862000	0.62976	1.273000	0.44346	0.561000	0.74099	TCG		PASS	0.726	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			7	34	7	34	---	---	---	---
PLEKHH1	57475	broad.mit.edu	37	14	68038551	68038551	+	Missense_Mutation	SNP	G	G	T	rs201583089		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:68038551G>T	ENST00000329153.5	+	10	1649	c.1517G>T	c.(1516-1518)cGa>cTa	p.R506L		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	506						cytoskeleton (GO:0005856)		p.R506L(1)|p.R545L(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GCGAGTTTCCGAATCTCGGTC	0.602																																						uc001xjl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1516-1518)CGA>CTA		pleckstrin homology domain containing, family H							65.0	67.0	67.0					14																	68038551		2027	4173	6200	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68038551G>T	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1517G>T	14.37:g.68038551G>T	ENSP00000330278:p.Arg506Leu					PLEKHH1_uc010tsw.1_Missense_Mutation_p.R74L|PLEKHH1_uc001xjm.1_Missense_Mutation_p.R21L|PLEKHH1_uc001xjn.1_Missense_Mutation_p.R21L	p.R506L	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	10	1659	+			506					A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.1517G>T	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.679008	0.29783	.	.	ENSG00000054690	ENST00000329153	T	0.11604	2.76	4.81	3.83	0.44106	.	0.142666	0.47093	D	0.000247	T	0.14399	0.0348	M	0.65498	2.005	0.80722	D	1	B;B	0.33857	0.429;0.066	B;B	0.35470	0.203;0.055	T	0.02220	-1.1193	10	0.56958	D	0.05	.	11.6983	0.51556	0.0951:0.0:0.9049:0.0	.	21;506	Q9ULM0-2;Q9ULM0	.;PKHH1_HUMAN	L	506	ENSP00000330278:R506L	ENSP00000330278:R506L	R	+	2	0	PLEKHH1	67108304	1.000000	0.71417	0.949000	0.38748	0.078000	0.17371	3.988000	0.56951	2.481000	0.83766	0.555000	0.69702	CGA		PASS	0.602	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	XM_031054		12	39	12	39	---	---	---	---
DCAF5	8816	broad.mit.edu	37	14	69529207	69529207	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:69529207T>C	ENST00000341516.5	-	8	1115	c.968A>G	c.(967-969)aAc>aGc	p.N323S	DCAF5_ENST00000554215.1_Missense_Mutation_p.N241S|DCAF5_ENST00000557386.1_Missense_Mutation_p.N322S|DCAF5_ENST00000556847.1_Missense_Mutation_p.N241S|DCAF5_ENST00000553293.1_Intron	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	323					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.N323S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GAAGGCTCCGTTGACCACCCT	0.418																																						uc001xkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(967-969)AAC>AGC		WD repeat domain 22							111.0	96.0	101.0					14																	69529207		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69529207T>C	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.968A>G	14.37:g.69529207T>C	ENSP00000341351:p.Asn323Ser					DCAF5_uc001xkq.2_Missense_Mutation_p.N322S	p.N323S	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			8	1187	-			323					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.968A>G	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.839309	0.71488	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	6.16	6.16	0.99307	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	N	0.12637	0.245	0.80722	D	1	P;D	0.55385	0.813;0.971	P;P	0.49752	0.543;0.621	T	0.08126	-1.0737	10	0.49607	T	0.09	-26.1848	16.8061	0.85666	0.0:0.0:0.0:1.0	.	322;323	G3V4J7;Q96JK2	.;DCAF5_HUMAN	S	323;241;241;322	ENSP00000341351:N323S;ENSP00000451551:N241S;ENSP00000452052:N241S;ENSP00000451845:N322S	ENSP00000341351:N323S	N	-	2	0	DCAF5	68598960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.367000	0.80283	0.528000	0.53228	AAC		PASS	0.418	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		41	45	41	45	---	---	---	---
ADAM20	8748	broad.mit.edu	37	14	70989980	70989980	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:70989980C>A	ENST00000256389.3	-	2	1889	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	499	Cys-rich.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V549L(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		AAGGCATTCACATTACAGGAG	0.438																																						uc001xme.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1645-1647)GTG>TTG		ADAM metallopeptidase domain 20 preproprotein							199.0	157.0	171.0					14																	70989980		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989980C>A	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1645G>T	14.37:g.70989980C>A	ENSP00000256389:p.Val549Leu						p.V549L	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1890	-			499			Cys-rich.|Extracellular (Potential).		Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.1645G>T	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	9.770	1.172517	0.21704	.	.	ENSG00000134007	ENST00000256389	T	0.21361	2.01	4.66	1.81	0.25067	ADAM, cysteine-rich (2);	1.237520	0.06435	U	0.724945	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.22604	0.072	B	0.36030	0.216	T	0.48305	-0.9047	10	0.34782	T	0.22	.	7.9955	0.30265	0.0:0.6785:0.0:0.3215	.	499	O43506	ADA20_HUMAN	L	549	ENSP00000256389:V549L	ENSP00000256389:V549L	V	-	1	0	ADAM20	70059733	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.099000	0.11007	0.143000	0.18926	-0.259000	0.10710	GTG		PASS	0.438	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			41	153	41	153	---	---	---	---
HEATR4	399671	broad.mit.edu	37	14	73957825	73957825	+	Intron	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:73957825A>T	ENST00000553558.1	-	17	3166				C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron|HEATR4_ENST00000560393.1_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CCTGCCCTTGAGGTCCAGGAA	0.672																																						uc001xok.1																			0					0						c.(103-105)AGG>TGG		chromosome 14 open reading frame 169							38.0	43.0	41.0					14																	73957825		1930	4133	6063	SO:0001627	intron_variant	79697				negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K4 specific)|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr14:73957825A>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2844+1944T>A	14.37:g.73957825A>T						HEATR4_uc010tua.1_Intron	p.R35W	NM_024644	NP_078920	Q9H6W3	NO66_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.215)	1	182	+			35					B7Z7V9|E9KL41	Missense_Mutation	SNP	ENST00000553558.1	37	c.103A>T	CCDS9815.2																																																																																				PASS	0.672	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2	NM_203309		21	36	21	36	---	---	---	---
CHGA	1113	broad.mit.edu	37	14	93397669	93397669	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:93397669G>A	ENST00000216492.5	+	6	710	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	CHGA_ENST00000553866.1_3'UTR|CHGA_ENST00000334654.4_Intron	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	144					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)		p.E144K(1)		cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GAAAAGTGGTGAAGCCACAGA	0.592																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)	uc001ybc.3																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(430-432)GAA>AAA		chromogranin A precursor							34.0	41.0	39.0					14																	93397669		2203	4300	6503	SO:0001583	missense	1113				regulation of blood pressure	extracellular region|stored secretory granule		g.chr14:93397669G>A		CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.430G>A	14.37:g.93397669G>A	ENSP00000216492:p.Glu144Lys					CHGA_uc010aum.2_RNA|CHGA_uc001ybd.3_Intron	p.E144K	NM_001275	NP_001266	P10645	CMGA_HUMAN		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)	6	690	+		all_cancers(154;0.0843)	144					B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Missense_Mutation	SNP	ENST00000216492.5	37	c.430G>A	CCDS9906.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.841102	0.32513	.	.	ENSG00000100604	ENST00000216492	T	0.01745	4.66	4.94	4.05	0.47172	.	1.561660	0.03737	N	0.254309	T	0.02455	0.0075	L	0.51422	1.61	0.24492	N	0.994291	P	0.37914	0.611	B	0.31495	0.131	T	0.51076	-0.8751	10	0.12766	T	0.61	-0.2193	9.238	0.37477	0.1009:0.0:0.8991:0.0	.	144	P10645	CMGA_HUMAN	K	144	ENSP00000216492:E144K	ENSP00000216492:E144K	E	+	1	0	CHGA	92467422	0.383000	0.25156	0.001000	0.08648	0.005000	0.04900	2.756000	0.47549	1.209000	0.43321	0.561000	0.74099	GAA		PASS	0.592	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412411.1	NM_001275		5	25	5	25	---	---	---	---
MIR381HG	378881	broad.mit.edu	37	14	101515907	101515907	+	lincRNA	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:101515907G>A	ENST00000553692.1	+	0	28				MIR539_ENST00000365690.2_RNA|MIR889_ENST00000401280.1_RNA|MIR544A_ENST00000384855.1_RNA|MIR487A_ENST00000384827.1_RNA|MIR655_ENST00000362159.2_RNA|AL132709.3_ENST00000577219.1_RNA	NR_104192.1				MIR381 host gene (non-protein coding)																		GGATATTTGAGGAGAGGTTAT	0.463																																						hsa-mir-655|MI0003677																			0					0															146.0	136.0	139.0					14																	101515907		1568	3582	5150			724025							g.chr14:101515907G>A	AA861571		14q32.31	2013-07-30	2010-01-22	2010-01-22	ENSG00000258861	ENSG00000258861		"""Long non-coding RNAs"""	20136	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 225"""		"""chromosome 14 open reading frame 89"""	C14orf89			Standard	NR_104192		Approved	NCRNA00225			OTTHUMG00000171633		14.37:g.101515907G>A						MIR487A_hsa-mir-487a|MI0002471_5'Flank										+									RNA	SNP	ENST00000553692.1	37	c.21G>A																																																																																					PASS	0.463	MIR381HG-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000414538.1			43	73	43	73	---	---	---	---
MARK3	4140	broad.mit.edu	37	14	103915265	103915265	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:103915265G>T	ENST00000429436.2	+	4	817	c.307G>T	c.(307-309)Gaa>Taa	p.E103*	MARK3_ENST00000335102.5_Nonsense_Mutation_p.E103*|MARK3_ENST00000216288.7_Nonsense_Mutation_p.E103*|MARK3_ENST00000416682.2_Nonsense_Mutation_p.E103*|MARK3_ENST00000553942.1_Nonsense_Mutation_p.E103*|MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000440884.3_Nonsense_Mutation_p.E103*|MARK3_ENST00000303622.9_Nonsense_Mutation_p.E103*	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	103	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E103*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			GCTCTTCAGAGAAGTAAGAAT	0.254																																						uc001ymz.3																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(2)|ovary(1)|stomach(1)	4						c.(307-309)GAA>TAA		MAP/microtubule affinity-regulating kinase 3							87.0	88.0	88.0					14																	103915265		1787	4040	5827	SO:0001587	stop_gained	4140						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr14:103915265G>T	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.307G>T	14.37:g.103915265G>T	ENSP00000411397:p.Glu103*					MARK3_uc001ymx.3_Nonsense_Mutation_p.E103*|MARK3_uc001ymw.3_Nonsense_Mutation_p.E103*|MARK3_uc001yna.3_Nonsense_Mutation_p.E103*|MARK3_uc001ymy.3_Nonsense_Mutation_p.E103*|MARK3_uc010awp.2_Nonsense_Mutation_p.E103*	p.E103*	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Epithelial(46;0.241)		4	973	+		Melanoma(154;0.155)	103			Protein kinase.		O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Nonsense_Mutation	SNP	ENST00000429436.2	37	c.307G>T	CCDS45165.1	.	.	.	.	.	.	.	.	.	.	G	14.97	2.692940	0.48202	.	.	ENSG00000075413	ENST00000335102;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.0865	0.89458	0.0:0.0:1.0:0.0	.	.	.	.	X	103	.	ENSP00000216288:E103X	E	+	1	0	MARK3	102985018	1.000000	0.71417	1.000000	0.80357	0.151000	0.21798	8.990000	0.93510	2.635000	0.89317	0.655000	0.94253	GAA		PASS	0.254	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415144.1	NM_001128918		26	136	26	136	---	---	---	---
TMEM179	388021	broad.mit.edu	37	14	105070804	105070804	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr14:105070804G>T	ENST00000556573.1	-	1	516	c.275C>A	c.(274-276)aCg>aAg	p.T92K	TMEM179_ENST00000341595.3_Missense_Mutation_p.T92K			Q6ZVK1	T179A_HUMAN	transmembrane protein 179	92						integral component of membrane (GO:0016021)		p.T92K(1)		endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		GAAGAAGAGCGTGCGCCAGGC	0.751																																						uc001yox.1																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)ACG>AAG		transmembrane protein 179							5.0	7.0	6.0					14																	105070804		2057	4127	6184	SO:0001583	missense	388021					integral to membrane		g.chr14:105070804G>T	AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 90"""	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.275C>A	14.37:g.105070804G>T	ENSP00000450958:p.Thr92Lys						p.T92K	NM_207379	NP_997262	Q6ZVK1	T179A_HUMAN	all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)	1	294	-			92			Helical; (Potential).			Missense_Mutation	SNP	ENST00000556573.1	37	c.275C>A		.	.	.	.	.	.	.	.	.	.	G	17.63	3.436047	0.62955	.	.	ENSG00000189203;ENSG00000258986;ENSG00000258986	ENST00000415614;ENST00000556573;ENST00000341595	T;T;T	0.19105	2.17;2.17;2.17	2.75	2.75	0.32379	.	0.434279	0.21827	N	0.068537	T	0.24470	0.0593	L	0.43152	1.355	0.34951	D	0.751214	P	0.47191	0.891	P	0.49683	0.619	T	0.32455	-0.9906	10	0.46703	T	0.11	.	10.0784	0.42375	0.0:0.3834:0.6166:0.0	.	92	Q6ZVK1-2	.	K	92	ENSP00000397763:T92K;ENSP00000450958:T92K;ENSP00000340477:T92K	ENSP00000340477:T92K	T	-	2	0	RP11-614O9.3;TMEM179	104141849	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.582000	0.46085	1.352000	0.45808	0.462000	0.41574	ACG		PASS	0.751	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410585.1	NM_207379		3	5	3	5	---	---	---	---
UBE3A	7337	broad.mit.edu	37	15	25616127	25616127	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:25616127G>A	ENST00000397954.2	-	4	1202	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	UBE3A_ENST00000428984.2_Silent_p.I378I|UBE3A_ENST00000438097.1_Silent_p.I378I|UBE3A_ENST00000232165.3_Silent_p.I398I|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000566215.1_Silent_p.I378I			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	401	E6-binding.				androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)	p.I401I(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGGACTCAGGGATGGGCTCTT	0.458																																						uc001zaq.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|breast(1)	3						c.(1201-1203)ATC>ATT		ubiquitin protein ligase E3A isoform 2							68.0	67.0	67.0					15																	25616127		2203	4299	6502	SO:0001819	synonymous_variant	7337				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr15:25616127G>A	AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.1203C>T	15.37:g.25616127G>A						uc001zae.2_Intron|UBE3A_uc001zar.2_Silent_p.I378I|UBE3A_uc001zas.2_Silent_p.I398I|UBE3A_uc001zat.2_Silent_p.I378I	p.I401I	NM_000462	NP_000453	Q05086	UBE3A_HUMAN		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)	4	1203	-		all_cancers(20;3.47e-21)|Breast(32;0.00123)	401			E6-binding.		A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Silent	SNP	ENST00000397954.2	37	c.1203C>T	CCDS45192.1																																																																																				PASS	0.458	UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462		27	60	27	60	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25924723	25924723	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:25924723C>A	ENST00000356865.6	-	21	4376	c.4265G>T	c.(4264-4266)aGg>aTg	p.R1422M		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1422					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R1422M(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGGGGTCACCCTGCCGGTGCT	0.632																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(4264-4266)AGG>ATG		ATPase, class V, type 10A							46.0	43.0	44.0					15																	25924723		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924723C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4265G>T	15.37:g.25924723C>A	ENSP00000349325:p.Arg1422Met						p.R1422M	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4371	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1422			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.4265G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.815066	0.32053	.	.	ENSG00000206190	ENST00000356865	T	0.11063	2.81	5.12	0.748	0.18376	.	0.974558	0.08420	N	0.948423	T	0.07683	0.0193	L	0.29908	0.895	0.09310	N	1	P	0.37864	0.61	B	0.35971	0.215	T	0.34079	-0.9843	10	0.62326	D	0.03	-12.6987	4.1165	0.10084	0.1652:0.4908:0.0:0.344	.	1422	O60312	AT10A_HUMAN	M	1422	ENSP00000349325:R1422M	ENSP00000349325:R1422M	R	-	2	0	ATP10A	23475816	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.578000	0.23773	0.285000	0.22329	0.655000	0.94253	AGG		PASS	0.632	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		36	51	36	51	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28196993	28196993	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:28196993A>C	ENST00000354638.3	-	18	2043	c.1888T>G	c.(1888-1890)Ttg>Gtg	p.L630V	OCA2_ENST00000382996.2_Missense_Mutation_p.L630V|OCA2_ENST00000353809.5_Missense_Mutation_p.L606V	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	630					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)	p.L630V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		ACAAATCCCAACACTGTCAGG	0.433									Oculocutaneous Albinism																													uc001zbh.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|pancreas(1)	5						c.(1888-1890)TTG>GTG		oculocutaneous albinism II							188.0	146.0	160.0					15																	28196993		2203	4300	6503	SO:0001583	missense	4948	Oculocutaneous_Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28196993A>C		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1888T>G	15.37:g.28196993A>C	ENSP00000346659:p.Leu630Val					OCA2_uc010ayv.2_Missense_Mutation_p.L606V	p.L630V	NM_000275	NP_000266	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	18	1998	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	630			Helical; (Potential).		Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1888T>G	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711300	0.48517	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.97089	-4.24;-4.24;-4.24	5.24	-1.11	0.09840	Divalent ion symporter (1);	0.000000	0.64402	D	0.000002	D	0.97583	0.9208	M	0.78916	2.43	0.41557	D	0.988609	D;D	0.61697	0.979;0.99	P;D	0.66084	0.821;0.941	D	0.96348	0.9256	10	0.52906	T	0.07	-8.4441	12.4432	0.55637	0.2814:0.0:0.7186:0.0	.	606;630	Q04671-2;Q04671	.;P_HUMAN	V	630;606;630	ENSP00000346659:L630V;ENSP00000261276:L606V;ENSP00000372457:L630V	ENSP00000261276:L606V	L	-	1	2	OCA2	25870588	1.000000	0.71417	0.953000	0.39169	0.404000	0.30871	0.788000	0.26872	-0.149000	0.11215	-0.400000	0.06385	TTG		PASS	0.433	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		10	40	10	40	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28389936	28389936	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:28389936C>G	ENST00000261609.7	-	72	11131	c.11023G>C	c.(11023-11025)Gac>Cac	p.D3675H		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.D3675H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGGACCAGTCGGACCACTCT	0.557																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(11023-11025)GAC>CAC		hect domain and RLD 2							71.0	59.0	63.0					15																	28389936		2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28389936C>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11023G>C	15.37:g.28389936C>G	ENSP00000261609:p.Asp3675His						p.D3675H	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	72	11129	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3675						Missense_Mutation	SNP	ENST00000261609.7	37	c.11023G>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270488	0.80469	.	.	ENSG00000128731	ENST00000261609	T	0.39406	1.08	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.45556	-0.9253	10	0.27785	T	0.31	.	19.3195	0.94233	0.0:1.0:0.0:0.0	.	3675	O95714	HERC2_HUMAN	H	3675	ENSP00000261609:D3675H	ENSP00000261609:D3675H	D	-	1	0	HERC2	26063531	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	7.442000	0.80503	2.638000	0.89438	0.655000	0.94253	GAC		PASS	0.557	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		20	69	20	69	---	---	---	---
MTMR10	54893	broad.mit.edu	37	15	31234047	31234047	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:31234047T>C	ENST00000435680.1	-	16	2057	c.1960A>G	c.(1960-1962)Ata>Gta	p.I654V	MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR|FAN1_ENST00000362065.4_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	654	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.I654V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CACAGTTTTATGTGTGTTCCA	0.532																																						uc001zfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1960-1962)ATA>GTA		myotubularin related protein 10							99.0	101.0	101.0					15																	31234047		1981	4160	6141	SO:0001583	missense	54893						phosphatase activity	g.chr15:31234047T>C	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1960A>G	15.37:g.31234047T>C	ENSP00000402537:p.Ile654Val					MTMR15_uc001zff.2_3'UTR|MTMR15_uc001zfe.2_3'UTR|MTMR10_uc010ubk.1_Missense_Mutation_p.I68V|MTMR10_uc001zfg.1_Missense_Mutation_p.I235V|MTMR10_uc010azx.1_Missense_Mutation_p.I406V|MTMR10_uc001zfi.1_3'UTR	p.I654V	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	16	2058	-		all_lung(180;2.81e-11)	654			Myotubularin phosphatase.		Q6P4Q6	Missense_Mutation	SNP	ENST00000435680.1	37	c.1960A>G	CCDS45204.1	.	.	.	.	.	.	.	.	.	.	T	10.94	1.493464	0.26774	.	.	ENSG00000166912	ENST00000435680	T	0.51574	0.7	5.67	-2.49	0.06403	Myotubularin phosphatase domain (1);	.	.	.	.	T	0.34250	0.0891	L	0.45698	1.435	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07385	-1.0775	9	0.46703	T	0.11	.	6.4238	0.21758	0.106:0.3214:0.0:0.5725	.	654	Q9NXD2	MTMRA_HUMAN	V	654	ENSP00000402537:I654V	ENSP00000402537:I654V	I	-	1	0	MTMR10	29021339	0.980000	0.34600	0.074000	0.20217	0.982000	0.71751	0.044000	0.13992	-0.404000	0.07610	-0.301000	0.09380	ATA		PASS	0.532	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1	NM_017762		46	98	46	98	---	---	---	---
TRPM1	4308	broad.mit.edu	37	15	31294039	31294039	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:31294039C>T	ENST00000256552.6	-	28	5011	c.4864G>A	c.(4864-4866)Gaa>Aaa	p.E1622K	TRPM1_ENST00000397795.2_Missense_Mutation_p.E1600K|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.E1639K	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.E1600K(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CATTCAGTTTCTGTGGAAGCT	0.358																																						uc001zfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(4798-4800)GAA>AAA		transient receptor potential cation channel,							60.0	55.0	56.0					15																	31294039		1820	4066	5886	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31294039C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4864G>A	15.37:g.31294039C>T	ENSP00000256552:p.Glu1622Lys					TRPM1_uc010azy.2_Missense_Mutation_p.E1507K|TRPM1_uc001zfl.2_RNA	p.E1600K	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	27	4926	-		all_lung(180;1.92e-11)	1600			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.4798G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779573	0.31502	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.59083	0.3;0.29;0.33	4.63	3.71	0.42584	.	0.300822	0.27720	N	0.018123	T	0.48409	0.1498	L	0.34521	1.04	0.42271	D	0.992051	B;B	0.30281	0.115;0.275	B;B	0.33196	0.027;0.159	T	0.53165	-0.8477	10	0.87932	D	0	-29.8355	12.7772	0.57455	0.0:0.9205:0.0:0.0795	.	1594;1600	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	K	1600;1639;1622;1600	ENSP00000380897:E1600K;ENSP00000437849:E1639K;ENSP00000256552:E1622K	ENSP00000256552:E1622K	E	-	1	0	TRPM1	29081331	1.000000	0.71417	0.470000	0.27216	0.124000	0.20399	1.487000	0.35540	1.076000	0.40961	0.563000	0.77884	GAA		PASS	0.358	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		26	75	26	75	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34049697	34049697	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:34049697C>A	ENST00000389232.4	+	60	8675	c.8605C>A	c.(8605-8607)Cag>Aag	p.Q2869K	RYR3_ENST00000415757.3_Missense_Mutation_p.Q2869K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2869					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.Q2869K(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)		GCTGGTTGACCAGTACTTCAC	0.468																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8605-8607)CAG>AAG		ryanodine receptor 3							87.0	83.0	84.0					15																	34049697		1939	4146	6085	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34049697C>A		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.8605C>A	15.37:g.34049697C>A	ENSP00000373884:p.Gln2869Lys					RYR3_uc010bar.2_Missense_Mutation_p.Q2869K	p.Q2869K	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)	60	8675	+		all_lung(180;7.18e-09)	2869			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8605C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.260897	0.80246	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.96300	-0.18;-3.97	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.94853	0.8337	N	0.24115	0.695	0.80722	D	1	P;P	0.52692	0.955;0.938	P;P	0.53401	0.725;0.625	D	0.92720	0.6190	10	0.17832	T	0.49	.	19.3887	0.94570	0.0:1.0:0.0:0.0	.	2869;2869	Q15413-2;Q15413	.;RYR3_HUMAN	K	2869	ENSP00000373884:Q2869K;ENSP00000399610:Q2869K	ENSP00000354735:Q2869K	Q	+	1	0	RYR3	31836989	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.585000	0.82584	2.826000	0.97356	0.655000	0.94253	CAG		PASS	0.468	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			5	11	5	11	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34102748	34102748	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:34102748C>T	ENST00000389232.4	+	71	10165	c.10095C>T	c.(10093-10095)tcC>tcT	p.S3365S	RYR3_ENST00000415757.3_Silent_p.S3360S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3365					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.S3365S(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)		TCCAGACCTCCCTCATCGTGG	0.517																																						uc001zhi.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10093-10095)TCC>TCT		ryanodine receptor 3							76.0	98.0	91.0					15																	34102748		1958	4149	6107	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34102748C>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.10095C>T	15.37:g.34102748C>T						RYR3_uc010bar.2_Silent_p.S3360S	p.S3365S	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)	71	10165	+		all_lung(180;7.18e-09)	3365					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.10095C>T	CCDS45210.1																																																																																				PASS	0.517	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			19	45	19	45	---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41192320	41192320	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:41192320G>T	ENST00000220509.5	+	4	1643	c.1304G>T	c.(1303-1305)cGc>cTc	p.R435L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	435					endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|vesicle-mediated transport (GO:0016192)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|lysosomal membrane (GO:0005765)	metal ion binding (GO:0046872)	p.R435L(1)		autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TTCTGCTTTCGCCAGCGTCGC	0.607																																						uc001zne.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(1303-1305)CGC>CTC		vacuolar protein sorting 18							63.0	68.0	66.0					15																	41192320		2203	4300	6503	SO:0001583	missense	57617				endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding	g.chr15:41192320G>T	AF308802	CCDS10069.1	15q14-q15	2006-12-19	2006-12-19		ENSG00000104142	ENSG00000104142			15972	protein-coding gene	gene with protein product		608551	"""vacuolar protein sorting protein 18"""			11250079, 16203730	Standard	NM_020857		Approved	KIAA1475, PEP3	uc001zne.3	Q9P253	OTTHUMG00000130135	ENST00000220509.5:c.1304G>T	15.37:g.41192320G>T	ENSP00000220509:p.Arg435Leu						p.R435L	NM_020857	NP_065908	Q9P253	VPS18_HUMAN		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)	4	1643	+		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	435					Q8TCG0|Q96DI3|Q9H268	Missense_Mutation	SNP	ENST00000220509.5	37	c.1304G>T	CCDS10069.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420280	0.42918	.	.	ENSG00000104142	ENST00000220509	T	0.24151	1.87	5.06	4.15	0.48705	Pep3/Vps18/deep orange (1);	0.159839	0.56097	D	0.000030	T	0.23289	0.0563	L	0.34521	1.04	0.80722	D	1	B	0.30727	0.292	B	0.40741	0.339	T	0.08106	-1.0738	10	0.49607	T	0.09	-17.9145	6.5293	0.22318	0.3163:0.0:0.6836:0.0	.	435	Q9P253	VPS18_HUMAN	L	435	ENSP00000220509:R435L	ENSP00000220509:R435L	R	+	2	0	VPS18	38979612	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.347000	0.65998	1.267000	0.44247	0.561000	0.74099	CGC		PASS	0.607	VPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252443.2			75	137	75	137	---	---	---	---
LCMT2	9836	broad.mit.edu	37	15	43621185	43621185	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:43621185T>A	ENST00000305641.5	-	1	1618	c.1503A>T	c.(1501-1503)cgA>cgT	p.R501R	LCMT2_ENST00000567039.1_3'UTR|ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000544735.1_Silent_p.R80R|ADAL_ENST00000389651.4_5'Flank|ADAL_ENST00000428046.3_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	501					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)	p.R501R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	CCACCACGCTTCGACCCCCAT	0.512																																						uc001zrg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1501-1503)CGA>CGT		leucine carboxyl methyltransferase 2	L-Leucine(DB00149)						120.0	118.0	118.0					15																	43621185		2201	4299	6500	SO:0001819	synonymous_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43621185T>A	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.1503A>T	15.37:g.43621185T>A						LCMT2_uc010udn.1_Silent_p.R80R|ADAL_uc001zrh.2_5'Flank|ADAL_uc010udo.1_5'Flank	p.R501R	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	1	1707	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	501					Q4JFT6|Q96B55|Q9NR10	Silent	SNP	ENST00000305641.5	37	c.1503A>T	CCDS10094.1																																																																																				PASS	0.512	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793		99	146	99	146	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44876661	44876661	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:44876661C>G	ENST00000261866.7	-	30	5233	c.5217G>C	c.(5215-5217)aaG>aaC	p.K1739N	SPG11_ENST00000427534.2_Missense_Mutation_p.K1739N|SPG11_ENST00000535302.2_Missense_Mutation_p.K1739N|SPG11_ENST00000558319.1_Missense_Mutation_p.K1739N|SPG11_ENST00000558253.1_5'Flank	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1739					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)		p.K1739N(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTGAATTTTTCTTAAAATTCT	0.433																																						uc001ztx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(5215-5217)AAG>AAC		spatacsin isoform 1							45.0	51.0	49.0					15																	44876661		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44876661C>G		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.5217G>C	15.37:g.44876661C>G	ENSP00000261866:p.Lys1739Asn					SPG11_uc010bdw.2_Missense_Mutation_p.K28N|SPG11_uc010ueh.1_Missense_Mutation_p.K1739N|SPG11_uc010uei.1_Missense_Mutation_p.K1739N|SPG11_uc001zty.1_Missense_Mutation_p.K468N	p.K1739N	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)	30	5248	-		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)	1739			Extracellular (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.5217G>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	8.330	0.826352	0.16749	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78126	-1.15;-0.91;-0.9	5.74	4.77	0.60923	.	0.355363	0.29396	N	0.012278	T	0.75406	0.3845	M	0.65975	2.015	0.80722	D	1	B;B;B;B	0.31548	0.328;0.119;0.119;0.119	B;B;B;B	0.28553	0.091;0.091;0.091;0.091	T	0.75755	-0.3206	10	0.45353	T	0.12	.	15.9075	0.79442	0.0:0.6767:0.3233:0.0	.	1739;1739;1739;1739	C4B7M2;F5H3N6;C4B7M4;Q96JI7	.;.;.;SPTCS_HUMAN	N	1739	ENSP00000261866:K1739N;ENSP00000445278:K1739N;ENSP00000396110:K1739N	ENSP00000261866:K1739N	K	-	3	2	SPG11	42663953	1.000000	0.71417	1.000000	0.80357	0.093000	0.18481	1.683000	0.37638	2.716000	0.92895	0.557000	0.71058	AAG		PASS	0.433	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			5	92	5	92	---	---	---	---
DUOXA2	405753	broad.mit.edu	37	15	45409295	45409295	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:45409295G>A	ENST00000323030.5	+	5	846	c.561G>A	c.(559-561)gcG>gcA	p.A187A	DUOX2_ENST00000603300.1_5'Flank|DUOX2_ENST00000389039.6_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	187					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.A187A(1)					all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GCAGGGTGGCGTTCTGCTTCT	0.692																																						uc001zuo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(559-561)GCG>GCA		dual oxidase activator 2							19.0	21.0	21.0					15																	45409295		2000	4170	6170	SO:0001819	synonymous_variant	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45409295G>A	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.561G>A	15.37:g.45409295G>A						DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA	p.A187A	NM_207581	NP_997464	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	5	841	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	187			Helical; (Potential).		B2RPI9|H0YNQ6	Silent	SNP	ENST00000323030.5	37	c.561G>A	CCDS10118.2																																																																																				PASS	0.692	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		9	39	9	39	---	---	---	---
SLC12A1	6557	broad.mit.edu	37	15	48543965	48543965	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:48543965C>A	ENST00000558405.1	+	14	1954	c.1940C>A	c.(1939-1941)cCa>cAa	p.P647Q	SLC12A1_ENST00000396577.3_Missense_Mutation_p.P647Q|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P647Q			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	647					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)	p.P647Q(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGTAAGAAGCCAGGTAAGATA	0.413																																						uc001zwn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(1939-1941)CCA>CAA		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						148.0	117.0	128.0					15																	48543965		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48543965C>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1940C>A	15.37:g.48543965C>A	ENSP00000453409:p.Pro647Gln					SLC12A1_uc010uew.1_Missense_Mutation_p.P453Q|SLC12A1_uc010bem.2_Missense_Mutation_p.P647Q|SLC12A1_uc001zwq.3_Missense_Mutation_p.P418Q|SLC12A1_uc001zwr.3_Missense_Mutation_p.P374Q	p.P647Q	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	15	2156	+		all_lung(180;0.00219)	647					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1940C>A	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	31	5.068248	0.93950	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.98807	-5.15;-5.15	6.01	6.01	0.97437	Amino acid permease domain (1);	0.098532	0.64402	D	0.000001	D	0.99453	0.9806	H	0.94658	3.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.98614	1.0664	10	0.87932	D	0	.	20.5141	0.99211	0.0:1.0:0.0:0.0	.	647;647	E9PDW4;Q13621	.;S12A1_HUMAN	Q	460;647;647	ENSP00000370381:P647Q;ENSP00000379822:P647Q	ENSP00000370381:P647Q	P	+	2	0	SLC12A1	46331257	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.810000	0.86072	2.850000	0.98022	0.655000	0.94253	CCA		PASS	0.413	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1			16	47	16	47	---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49254801	49254801	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:49254801T>C	ENST00000332408.4	-	1	840	c.412A>G	c.(412-414)Agt>Ggt	p.S138G		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	138	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.S138G(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CCGGACCTACTTAAACTGGTT	0.627																																						uc001zxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(412-414)AGT>GGT		rai-like protein							57.0	55.0	55.0					15																	49254801		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49254801T>C	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.412A>G	15.37:g.49254801T>C	ENSP00000329668:p.Ser138Gly						p.S138G	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	841	-		all_lung(180;0.00466)	138			CH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.412A>G	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	T	7.836	0.720984	0.15372	.	.	ENSG00000185634	ENST00000332408	T	0.04970	3.52	4.67	2.11	0.27256	.	0.887861	0.09609	N	0.779148	T	0.03263	0.0095	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46317	-0.9200	10	0.23891	T	0.37	-26.4516	5.7765	0.18281	0.2113:0.0:0.1362:0.6525	.	138	Q6S5L8	SHC4_HUMAN	G	138	ENSP00000329668:S138G	ENSP00000329668:S138G	S	-	1	0	SHC4	47042093	0.003000	0.15002	0.001000	0.08648	0.006000	0.05464	1.348000	0.33987	0.786000	0.33708	0.533000	0.62120	AGT		PASS	0.627	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		25	39	25	39	---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50271996	50271996	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:50271996C>A	ENST00000284509.6	-	12	993	c.852G>T	c.(850-852)ctG>ctT	p.L284L	RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000558959.1_Intron|ATP8B4_ENST00000559829.1_Silent_p.L284L	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	284						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.L284L(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCAAGCATATCAGAAACCCAA	0.353																																						uc001zxu.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(850-852)CTG>CTT		ATPase class I type 8B member 4							63.0	66.0	65.0					15																	50271996		2196	4294	6490	SO:0001819	synonymous_variant	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50271996C>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.852G>T	15.37:g.50271996C>A						ATP8B4_uc010ber.2_Silent_p.L157L|ATP8B4_uc010ufd.1_Silent_p.L157L|ATP8B4_uc010ufe.1_RNA	p.L284L	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	12	994	-		all_lung(180;0.00183)	284			Helical; (Potential).		Q9H727	Silent	SNP	ENST00000284509.6	37	c.852G>T	CCDS32238.1																																																																																				PASS	0.353	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		41	69	41	69	---	---	---	---
HDC	3067	broad.mit.edu	37	15	50549686	50549686	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:50549686A>C	ENST00000267845.3	-	4	779	c.377T>G	c.(376-378)aTg>aGg	p.M126R	HDC_ENST00000543581.1_Missense_Mutation_p.M126R	NM_002112.3	NP_002103.2	Q9UBI9	HDC_HUMAN	histidine decarboxylase	0					respiratory tube development (GO:0030323)	membrane (GO:0016020)		p.M126R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)		AAGTCCCAGCATTTTTGCCAA	0.582																																					GBM(95;1627 1936 6910 9570)	uc001zxz.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6						c.(376-378)ATG>AGG		histidine decarboxylase	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)						140.0	118.0	125.0					15																	50549686		2196	4295	6491	SO:0001583	missense	3067				catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	g.chr15:50549686A>C		CCDS10134.1	15q21.2	2013-09-20			ENSG00000140287	ENSG00000140287	4.1.1.22		4855	protein-coding gene	gene with protein product		142704				1487235	Standard	NM_002112		Approved		uc001zxz.3	P19113	OTTHUMG00000131644	ENST00000267845.3:c.377T>G	15.37:g.50549686A>C	ENSP00000267845:p.Met126Arg					HDC_uc010uff.1_Missense_Mutation_p.M126R|HDC_uc010bet.1_Intron|HDC_uc010beu.1_Missense_Mutation_p.M126R	p.M126R	NM_002112	NP_002103	P19113	DCHS_HUMAN		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	4	483	-		all_lung(180;0.0138)	126						Missense_Mutation	SNP	ENST00000267845.3	37	c.377T>G	CCDS10134.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095234	0.56075	.	.	ENSG00000140287	ENST00000267845;ENST00000543581	T;T	0.46063	0.88;0.88	5.66	5.66	0.87406	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.094456	0.64402	D	0.000001	T	0.69593	0.3128	M	0.89095	3.005	0.58432	D	0.999992	D;D	0.76494	0.993;0.999	D;D	0.68765	0.96;0.953	T	0.76647	-0.2882	10	0.87932	D	0	-31.9222	15.8862	0.79251	1.0:0.0:0.0:0.0	.	126;126	B7ZM01;P19113	.;DCHS_HUMAN	R	126	ENSP00000267845:M126R;ENSP00000440252:M126R	ENSP00000267845:M126R	M	-	2	0	HDC	48336978	1.000000	0.71417	1.000000	0.80357	0.213000	0.24496	5.803000	0.69129	2.160000	0.67779	0.533000	0.62120	ATG		PASS	0.582	HDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254540.1			53	111	53	111	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51830482	51830483	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:51830482_51830483CA>AC	ENST00000251076.5	-	10	1559_1560	c.1272_1273TG>GT	c.(1270-1275)gaTGat>gaGTat	p.424_425DD>EY	DMXL2_ENST00000449909.3_Missense_Mutation_p.424_425DD>EY|DMXL2_ENST00000543779.2_Missense_Mutation_p.424_425DD>EY	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	424						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.D425Y(1)|p.D424E(1)|p.D424_D425>EY(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTATCTGCATCATCATTTTCAT	0.337																																						uc002abf.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(6)|skin(3)	9						c.(1273-1275)GAT>TAT|c.(1270-1272)GAT>GAG		Dmx-like 2																																				SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51830482C>A|g.chr15:51830483A>C	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1272_1273delinsAC	15.37:g.51830482_51830483delinsAC	ENSP00000251076:p.D424_D425delinsEY					DMXL2_uc010ufy.1_Missense_Mutation_p.D425Y|DMXL2_uc010bfa.2_Missense_Mutation_p.D425Y|DMXL2_uc010ufy.1_Missense_Mutation_p.D424E|DMXL2_uc010bfa.2_Missense_Mutation_p.D424E	p.D425Y|p.D424E	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	10	1498|1497	-			425|424					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.1273G>T|c.1272T>G	CCDS10141.1																																																																																				PASS	0.337	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		62|61	109|106	61	106	---	---	---	---
RORA	6095	broad.mit.edu	37	15	60919521	60919521	+	Intron	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:60919521G>A	ENST00000335670.6	-	2	297				RP11-219B17.1_ENST00000559824.1_RNA|RORA_ENST00000560004.1_Intron|RORA_ENST00000261523.5_Missense_Mutation_p.P18L|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.P18L	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A						angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.P18L(2)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GATTGACCACGGCACTCTTGC	0.547																																						uc002agv.2																			2	Substitution - Missense(2)	p.P18S(1)	lung(2)	large_intestine(1)|ovary(1)	2						c.(52-54)CCG>CTG		RAR-related orphan receptor A isoform b							218.0	176.0	190.0					15																	60919521		2203	4300	6503	SO:0001627	intron_variant	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60919521G>A	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.196+51334C>T	15.37:g.60919521G>A						RORA_uc002agw.2_Missense_Mutation_p.P18L|RORA_uc002agx.2_Intron	p.P18L	NM_134260	NP_599022	P35398	RORA_HUMAN			1	209	-			18		P -> S (in a colorectal cancer sample; somatic mutation).	Modulating.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.53C>T	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	g	5.531	0.282978	0.10458	.	.	ENSG00000069667	ENST00000309157;ENST00000261523	D;D	0.95069	-3.6;-3.48	3.01	-4.44	0.03557	.	.	.	.	.	D	0.84110	0.5400	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.70128	-0.4957	9	0.66056	D	0.02	.	5.772	0.18259	0.3974:0.0:0.4063:0.1963	.	18;18	P35398-3;P35398	.;RORA_HUMAN	L	18	ENSP00000309753:P18L;ENSP00000261523:P18L	ENSP00000261523:P18L	P	-	2	0	RORA	58706813	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	-1.134000	0.03228	-1.481000	0.01863	-3.679000	0.00024	CCG		PASS	0.547	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			31	186	31	186	---	---	---	---
UACA	55075	broad.mit.edu	37	15	70976770	70976770	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:70976770T>A	ENST00000322954.6	-	8	803	c.618A>T	c.(616-618)ctA>ctT	p.L206L	UACA_ENST00000379983.2_Silent_p.L193L|UACA_ENST00000560441.1_Silent_p.L193L|UACA_ENST00000539319.1_Intron|UACA_ENST00000559183.1_5'Flank	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	206					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.L206L(1)|p.L193L(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATTCGCAACCTAGCATGAGGG	0.393																																						uc002asr.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(616-618)CTA>CTT		uveal autoantigen with coiled-coil domains and							127.0	123.0	124.0					15																	70976770		2199	4297	6496	SO:0001819	synonymous_variant	55075					cytoskeleton|extracellular region		g.chr15:70976770T>A	AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.618A>T	15.37:g.70976770T>A						UACA_uc010uke.1_Intron|UACA_uc002asq.2_Silent_p.L193L|UACA_uc010bin.1_Silent_p.L192L	p.L206L	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN			8	722	-			206			ANK 6.		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	ENST00000322954.6	37	c.618A>T	CCDS10235.1																																																																																				PASS	0.393	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257199.2			73	148	73	148	---	---	---	---
PEAK1	79834	broad.mit.edu	37	15	77450849	77450849	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:77450849G>A	ENST00000560626.2	-	5	3802	c.3327C>T	c.(3325-3327)aaC>aaT	p.N1109N	PEAK1_ENST00000312493.4_Silent_p.N1109N			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1109					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.N1109N(2)									ACTTACCTAAGTTGCTGTATG	0.398																																						uc002bcm.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(3325-3327)AAC>AAT		NKF3 kinase family member							152.0	138.0	143.0					15																	77450849		1901	4112	6013	SO:0001819	synonymous_variant	79834				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:77450849G>A		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3327C>T	15.37:g.77450849G>A						SGK269_uc002bcn.2_Silent_p.N1109N	p.N1109N	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN		STAD - Stomach adenocarcinoma(199;0.124)	4	3635	-			1109					Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Silent	SNP	ENST00000560626.2	37	c.3327C>T	CCDS42062.1																																																																																				PASS	0.398	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3			51	87	51	87	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78466839	78466839	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:78466839T>C	ENST00000258873.4	-	12	1935	c.1730A>G	c.(1729-1731)aAt>aGt	p.N577S	ACSBG1_ENST00000541759.1_Missense_Mutation_p.N335S|ACSBG1_ENST00000560817.1_Missense_Mutation_p.N335S	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	577					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.N577S(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGGGGGCACATTCTCCCCACC	0.597																																						uc002bdh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1729-1731)AAT>AGT		lipidosin							78.0	63.0	68.0					15																	78466839		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78466839T>C	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1730A>G	15.37:g.78466839T>C	ENSP00000258873:p.Asn577Ser					ACSBG1_uc010umw.1_Missense_Mutation_p.N573S|ACSBG1_uc010umx.1_Missense_Mutation_p.N335S	p.N577S	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			12	1786	-			577					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.1730A>G	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.658959	0.88154	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.13307	2.6;2.6	4.9	4.9	0.64082	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	H	0.95043	3.615	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.87578	0.992;0.998	T	0.64997	-0.6275	10	0.72032	D	0.01	-31.4874	14.151	0.65384	0.0:0.0:0.0:1.0	.	573;577	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	S	577;335	ENSP00000258873:N577S;ENSP00000439955:N335S	ENSP00000258873:N577S	N	-	2	0	ACSBG1	76253894	1.000000	0.71417	0.960000	0.40013	0.992000	0.81027	7.637000	0.83313	2.190000	0.69967	0.397000	0.26171	AAT		PASS	0.597	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		24	47	24	47	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84558881	84558881	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:84558881G>T	ENST00000286744.5	+	11	1317	c.1093G>T	c.(1093-1095)Gaa>Taa	p.E365*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.E365*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	365						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E365*(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAATTCTGCTGAATGTGTGGA	0.393																																						uc002bjz.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(1093-1095)GAA>TAA		ADAMTS-like 3 precursor							179.0	161.0	167.0					15																	84558881		2203	4300	6503	SO:0001587	stop_gained	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84558881G>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1093G>T	15.37:g.84558881G>T	ENSP00000286744:p.Glu365*					ADAMTSL3_uc010bmt.1_Nonsense_Mutation_p.E365*|ADAMTSL3_uc010bmu.1_Nonsense_Mutation_p.E365*	p.E365*	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		11	1317	+			365					A1A566|A1A567|Q9ULI7	Nonsense_Mutation	SNP	ENST00000286744.5	37	c.1093G>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	39	7.582336	0.98371	.	.	ENSG00000156218	ENST00000286744	.	.	.	4.83	4.83	0.62350	.	0.048535	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	18.304	0.90174	0.0:0.0:1.0:0.0	.	.	.	.	X	365	.	ENSP00000286744:E365X	E	+	1	0	ADAMTSL3	82349885	1.000000	0.71417	0.862000	0.33874	0.996000	0.88848	9.224000	0.95209	2.377000	0.81083	0.655000	0.94253	GAA		PASS	0.393	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		59	121	59	121	---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85360218	85360218	+	Silent	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:85360218G>C	ENST00000258888.5	+	1	308	c.141G>C	c.(139-141)gcG>gcC	p.A47A		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	47					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A47A(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GCTGGCCAGCGGTTGACCTGG	0.701																																						uc002ble.2																			2	Substitution - coding silent(2)		lung(2)	stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(139-141)GCG>GCC		alpha-kinase 3							42.0	39.0	40.0					15																	85360218		2203	4299	6502	SO:0001819	synonymous_variant	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85360218G>C	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.141G>C	15.37:g.85360218G>C							p.A47A	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		1	308	+			47					Q9P2L6	Silent	SNP	ENST00000258888.5	37	c.141G>C	CCDS10333.1																																																																																				PASS	0.701	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1	NM_020778		12	31	12	31	---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85619149	85619149	+	Splice_Site	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:85619149G>T	ENST00000310298.4	+	5	743	c.491G>T	c.(490-492)aGg>aTg	p.R164M	PDE8A_ENST00000557957.1_Splice_Site_p.R92M|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000339708.5_Splice_Site_p.R164M|PDE8A_ENST00000394553.1_Splice_Site_p.R164M			O60658	PDE8A_HUMAN	phosphodiesterase 8A	164					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.R164M(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GTAGTACGCAGGTAAACTTTC	0.328																																						uc002blh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|skin(1)	4						c.(490-492)AGG>ATG		phosphodiesterase 8A isoform 1							281.0	284.0	283.0					15																	85619149		2202	4299	6501	SO:0001630	splice_region_variant	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85619149G>T	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.491+1G>T	15.37:g.85619149G>T						PDE8A_uc002bli.2_Missense_Mutation_p.R164M|PDE8A_uc010bnc.2_Translation_Start_Site|PDE8A_uc010bnd.2_Translation_Start_Site|PDE8A_uc002blj.2_Translation_Start_Site|PDE8A_uc002blk.2_Translation_Start_Site	p.R164M	NM_002605	NP_002596	O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		4	680	+	Colorectal(223;0.227)		164					B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.491G>T	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442758	0.83993	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.47177	0.85;0.85;0.85	5.01	5.01	0.66863	Signal transduction response regulator, receiver domain (1);	0.573825	0.18003	N	0.154833	T	0.68668	0.3026	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.967;0.999	T	0.71417	-0.4599	10	0.87932	D	0	.	16.1955	0.82023	0.0:0.0:1.0:0.0	.	164;164	O60658-2;O60658	.;PDE8A_HUMAN	M	164	ENSP00000311453:R164M;ENSP00000378056:R164M;ENSP00000340679:R164M	ENSP00000311453:R164M	R	+	2	0	PDE8A	83420153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.443000	0.66581	2.485000	0.83878	0.603000	0.83216	AGG		PASS	0.328	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605	Missense_Mutation	98	240	98	240	---	---	---	---
KIF7	374654	broad.mit.edu	37	15	90176085	90176085	+	Missense_Mutation	SNP	G	G	A	rs141463861	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:90176085G>A	ENST00000394412.3	-	14	2937	c.2861C>T	c.(2860-2862)aCg>aTg	p.T954M		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	954					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.T954M(1)|p.T441M(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTCCAGCCCCGTCTTCTCCTG	0.652													G|||	6	0.00119808	0.0045	0.0	5008	,	,		14180	0.0		0.0	False		,,,				2504	0.0					uc002bof.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(2860-2862)ACG>ATG		kinesin family member 7		G	MET/THR	20,4380	28.1+/-56.4	0,20,2180	30.0	29.0	30.0		2861	5.2	0.9	15	dbSNP_134	30	0,8598		0,0,4299	yes	missense	KIF7	NM_198525.2	81	0,20,6479	AA,AG,GG		0.0,0.4545,0.1539	probably-damaging	954/1344	90176085	20,12978	2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90176085G>A	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2861C>T	15.37:g.90176085G>A	ENSP00000377934:p.Thr954Met					KIF7_uc010upw.1_Missense_Mutation_p.T440M	p.T954M	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		14	2938	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		954			Potential.		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.2861C>T	CCDS32325.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	15.23	2.772935	0.49680	0.004545	0.0	ENSG00000166813	ENST00000394412	T	0.45276	0.9	5.22	5.22	0.72569	.	0.091369	0.85682	D	0.000000	T	0.54319	0.1851	L	0.57536	1.79	0.37737	D	0.925485	D;D	0.89917	0.998;1.0	P;P	0.59056	0.851;0.732	T	0.61426	-0.7065	10	0.62326	D	0.03	.	11.8341	0.52312	0.0:0.0:0.7056:0.2944	.	440;954	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	M	954	ENSP00000377934:T954M	ENSP00000377934:T954M	T	-	2	0	KIF7	87977089	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	4.297000	0.59061	2.411000	0.81874	0.462000	0.41574	ACG		PASS	0.652	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		11	16	11	16	---	---	---	---
MSLN	10232	broad.mit.edu	37	16	814992	814992	+	Missense_Mutation	SNP	G	G	T	rs149194821		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:814992G>T	ENST00000382862.3	+	7	561	c.466G>T	c.(466-468)Gct>Tct	p.A156S	MSLN_ENST00000563941.1_Missense_Mutation_p.A156S|MSLN_ENST00000566549.1_Missense_Mutation_p.A156S|MSLN_ENST00000545450.2_Missense_Mutation_p.A156S	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	156					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.A156S(2)		breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCGAGGGGGGCTCCCGAGCG	0.692																																						uc002cjw.1																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(466-468)GCT>TCT		mesothelin isoform 2 preproprotein							20.0	22.0	21.0					16																	814992		2176	4287	6463	SO:0001583	missense	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:814992G>T	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.466G>T	16.37:g.814992G>T	ENSP00000372313:p.Ala156Ser					MSLN_uc002cjt.1_Missense_Mutation_p.A156S|MSLN_uc002cju.1_Missense_Mutation_p.A156S|MSLN_uc010brd.1_Missense_Mutation_p.A155S|MSLN_uc002cjv.1_Missense_Mutation_p.A156S|MSLN_uc002cjx.1_Missense_Mutation_p.A156S|MSLN_uc002cjy.1_5'Flank	p.A156S	NM_013404	NP_037536	Q13421	MSLN_HUMAN			7	517	+		Hepatocellular(780;0.00335)	156					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Missense_Mutation	SNP	ENST00000382862.3	37	c.466G>T	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	0.042	-1.281333	0.01398	.	.	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.10573	2.86;2.86	2.5	-1.98	0.07480	.	0.881101	0.09779	N	0.756885	T	0.03564	0.0102	N	0.03050	-0.425	0.09310	N	1	B;B;B;B	0.20671	0.019;0.047;0.038;0.019	B;B;B;B	0.21151	0.01;0.033;0.019;0.01	T	0.47058	-0.9146	10	0.08381	T	0.77	-1.9277	8.559	0.33498	0.0:0.0:0.2725:0.7275	.	155;156;156;156	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	S	156	ENSP00000442965:A156S;ENSP00000372313:A156S	ENSP00000372313:A156S	A	+	1	0	MSLN	754993	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.230000	0.09083	-0.082000	0.12640	-0.324000	0.08512	GCT		PASS	0.692	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2			12	19	12	19	---	---	---	---
C1QTNF8	390664	broad.mit.edu	37	16	1144031	1144031	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:1144031C>T	ENST00000328449.5	-	4	502	c.229G>A	c.(229-231)Gtc>Atc	p.V77I		NM_207419.3	NP_997302.2	P60827	C1QT8_HUMAN	C1q and tumor necrosis factor related protein 8	77	Collagen-like.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)		p.V77I(1)		lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CGACCTCGGACGCCGGCCTCA	0.766																																						uc010uuw.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(229-231)GTC>ATC		C1q and tumor necrosis factor related protein 8							5.0	6.0	6.0					16																	1144031		1084	2376	3460	SO:0001583	missense	390664					collagen		g.chr16:1144031C>T	AY358832	CCDS32358.1	16p13.3	2014-08-12			ENSG00000184471	ENSG00000184471			31374	protein-coding gene	gene with protein product		614147				12975309	Standard	NM_207419		Approved	UNQ5829, CTRP8	uc010uuw.1	P60827	OTTHUMG00000167756	ENST00000328449.5:c.229G>A	16.37:g.1144031C>T	ENSP00000330426:p.Val77Ile						p.V77I	NM_207419	NP_997302	P60827	C1QT8_HUMAN			4	503	-		Hepatocellular(780;0.00369)	77			Collagen-like.		B7U178	Missense_Mutation	SNP	ENST00000328449.5	37	c.229G>A	CCDS32358.1	.	.	.	.	.	.	.	.	.	.	C	9.294	1.051416	0.19827	.	.	ENSG00000184471	ENST00000328449	D	0.93307	-3.2	3.52	-0.215	0.13157	.	2.194420	0.03194	N	0.173683	D	0.86661	0.5986	N	0.25485	0.75	0.09310	N	1	P	0.42161	0.772	B	0.34418	0.182	T	0.78147	-0.2317	10	0.35671	T	0.21	.	7.3327	0.26592	0.0:0.591:0.3081:0.1009	.	77	P60827	C1QT8_HUMAN	I	77	ENSP00000330426:V77I	ENSP00000330426:V77I	V	-	1	0	C1QTNF8	1084032	0.000000	0.05858	0.016000	0.15963	0.065000	0.16274	0.235000	0.17948	-0.198000	0.10333	-0.182000	0.12963	GTC		PASS	0.766	C1QTNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396120.1	XM_372606		9	12	9	12	---	---	---	---
ZSCAN32	54925	broad.mit.edu	37	16	3434703	3434703	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:3434703G>C	ENST00000396852.4	-	6	1297	c.990C>G	c.(988-990)atC>atG	p.I330M	ZSCAN32_ENST00000439568.2_Missense_Mutation_p.I41M|ZSCAN32_ENST00000422427.2_Missense_Mutation_p.I118M|ZSCAN32_ENST00000304926.3_Missense_Mutation_p.I118M|ZSCAN32_ENST00000396846.3_Missense_Mutation_p.I330M|ZSCAN32_ENST00000573830.1_Missense_Mutation_p.I41M|ZSCAN32_ENST00000574940.1_Missense_Mutation_p.I330M|NAA60_ENST00000576906.1_3'UTR	NM_001284527.1|NM_001284529.1	NP_001271456.1|NP_001271458.1	Q9NX65	ZSC32_HUMAN	zinc finger and SCAN domain containing 32	330					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.I118M(1)									CCTCATAAAAGATACAAGGCT	0.517																																						uc002cuz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(352-354)ATC>ATG		zinc finger protein 434							134.0	137.0	136.0					16																	3434703		2197	4300	6497	SO:0001583	missense	54925				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3434703G>C	AK000424	CCDS10503.1, CCDS66920.1, CCDS66921.1	16p13.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000140987	ENSG00000140987		"""-"", ""Zinc fingers, C2H2-type"""	20812	protein-coding gene	gene with protein product			"""zinc finger protein 434"""	ZNF434			Standard	XM_005255402		Approved	FLJ20417	uc002cux.4	Q9NX65	OTTHUMG00000129357	ENST00000396852.4:c.990C>G	16.37:g.3434703G>C	ENSP00000380061:p.Ile330Met					ZNF434_uc002cux.3_Missense_Mutation_p.I329M|ZNF434_uc010uwx.1_Missense_Mutation_p.I41M|ZNF434_uc002cuy.3_Missense_Mutation_p.I41M|ZNF434_uc010uwy.1_Missense_Mutation_p.I41M|ZNF434_uc010uwz.1_Missense_Mutation_p.I329M|ZNF434_uc010uxa.1_Missense_Mutation_p.I118M	p.I118M	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN			5	1156	-			118					B4DWL5|C9JB03|Q6WMU8|Q7Z6G2|Q8NFX8|Q9BU74	Missense_Mutation	SNP	ENST00000396852.4	37	c.354C>G		.	.	.	.	.	.	.	.	.	.	G	13.78	2.339331	0.41398	.	.	ENSG00000140987	ENST00000304926;ENST00000396852;ENST00000396846;ENST00000439568;ENST00000422427	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	2.6	1.59	0.23543	.	1.461180	0.05219	U	0.508219	T	0.41096	0.1144	L	0.29908	0.895	0.09310	N	1	B;B;B	0.32245	0.078;0.361;0.201	B;B;B	0.43623	0.18;0.425;0.425	T	0.47935	-0.9078	10	0.46703	T	0.11	.	7.1028	0.25346	0.0:0.0:0.7311:0.2689	.	118;118;330	B4DR24;Q9NX65;Q6WMU8	.;ZN434_HUMAN;.	M	118;330;330;41;118	ENSP00000302502:I118M;ENSP00000380061:I330M;ENSP00000380057:I330M;ENSP00000391787:I41M;ENSP00000407312:I118M	ENSP00000302502:I118M	I	-	3	3	ZNF434	3374704	0.000000	0.05858	0.001000	0.08648	0.214000	0.24535	-0.177000	0.09796	0.372000	0.24591	0.655000	0.94253	ATC		PASS	0.517	ZSCAN32-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251509.2	NM_017810		98	207	98	207	---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4415002	4415002	+	Splice_Site	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:4415002A>T	ENST00000251166.4	-	11	1044		c.e11+1		CORO7_ENST00000423908.2_Splice_Site|CORO7_ENST00000539968.1_Splice_Site|CORO7-PAM16_ENST00000572467.1_Splice_Site|CORO7_ENST00000537233.2_Splice_Site|CORO7_ENST00000574025.1_Splice_Site	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7						actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGCAAGGCTTACCTGGGCTCA	0.622																																						uc002cwh.3																			1	Unknown(1)		lung(1)		0						c.e11+1		coronin 7							36.0	31.0	33.0					16																	4415002		2187	4297	6484	SO:0001630	splice_region_variant	79585					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction		g.chr16:4415002A>T	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.898+1T>A	16.37:g.4415002A>T						CORO7_uc002cwe.2_Splice_Site|CORO7_uc002cwf.2_Splice_Site_p.V300_splice|CORO7_uc002cwg.3_Splice_Site_p.V80_splice|CORO7_uc010uxh.1_Splice_Site_p.V282_splice|CORO7_uc010uxi.1_Splice_Site_p.V215_splice|CORO7_uc002cwi.1_Splice_Site_p.V80_splice|CORO7_uc010uxj.1_Splice_Site|CORO7_uc010btp.1_Splice_Site_p.V80_splice	p.V300_splice	NM_024535	NP_078811	P57737	CORO7_HUMAN			11	1018	-								B4DFD6|B4DL18|I3L416|Q17RK4	Splice_Site	SNP	ENST00000251166.4	37	c.898_splice	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.968594	0.74131	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968;ENST00000423908	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5594	0.61779	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CORO7	4355003	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	6.984000	0.76186	2.031000	0.59945	0.379000	0.24179	.		PASS	0.622	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2	NM_024535	Intron	5	10	5	10	---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4752157	4752157	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:4752157T>C	ENST00000304283.4	-	9	1249	c.955A>G	c.(955-957)Acc>Gcc	p.T319A	ANKS3_ENST00000446014.2_Missense_Mutation_p.T190A|ANKS3_ENST00000585773.1_Missense_Mutation_p.T246A|ANKS3_ENST00000450067.2_Missense_Mutation_p.T113A	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	319								p.T319A(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ATGGGGGAGGTGACATCCCGG	0.637																																						uc002cxj.1																			1	Substitution - Missense(1)		lung(1)		0						c.(955-957)ACC>GCC		ankyrin repeat and sterile alpha motif domain							30.0	29.0	29.0					16																	4752157		2197	4300	6497	SO:0001583	missense	124401							g.chr16:4752157T>C	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.955A>G	16.37:g.4752157T>C	ENSP00000304586:p.Thr319Ala					ANKS3_uc010uxr.1_5'Flank|ANKS3_uc002cxh.1_5'Flank|ANKS3_uc002cxi.1_Missense_Mutation_p.T246A|ANKS3_uc002cxk.2_Missense_Mutation_p.T190A|ANKS3_uc002cxl.2_Missense_Mutation_p.T146A|ANKS3_uc010uxs.1_Missense_Mutation_p.T246A|ANKS3_uc002cxm.2_Missense_Mutation_p.T113A	p.T319A	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			9	1250	-			319					B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.955A>G	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.570071	0.86542	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.63580	0.45;2.04;-0.05	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.77987	0.4213	M	0.75264	2.295	0.80722	D	1	D;D	0.76494	0.999;0.982	D;P	0.68621	0.959;0.664	T	0.80562	-0.1327	10	0.66056	D	0.02	.	15.1356	0.72562	0.0:0.0:0.0:1.0	.	113;319	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	A	319;190;113	ENSP00000304586:T319A;ENSP00000406796:T190A;ENSP00000388270:T113A	ENSP00000304586:T319A	T	-	1	0	ANKS3	4692158	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	7.270000	0.78493	2.235000	0.73313	0.533000	0.62120	ACC		PASS	0.637	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		15	26	15	26	---	---	---	---
ZP2	7783	broad.mit.edu	37	16	21210929	21210929	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:21210929C>A	ENST00000574002.1	-	17	2371	c.1889G>T	c.(1888-1890)tGt>tTt	p.C630F	ZP2_ENST00000219593.4_Missense_Mutation_p.C630F|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Missense_Mutation_p.C621F			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	630	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)	p.C630F(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GGTCACAGAACACAGTGGGGA	0.448																																						uc002dii.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1888-1890)TGT>TTT		zona pellucida glycoprotein 2 preproprotein							125.0	119.0	121.0					16																	21210929		2200	4300	6500	SO:0001583	missense	7783				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	g.chr16:21210929C>A	M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.1889G>T	16.37:g.21210929C>A	ENSP00000460971:p.Cys630Phe					ZP2_uc010bwn.1_Missense_Mutation_p.C660F	p.C630F	NM_003460	NP_003451	Q05996	ZP2_HUMAN		GBM - Glioblastoma multiforme(48;0.0573)	16	1889	-			630			Extracellular (Potential).|ZP.		B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	ENST00000574002.1	37	c.1889G>T	CCDS10596.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758107	0.69648	.	.	ENSG00000103310	ENST00000219593	D	0.89746	-2.56	5.73	4.78	0.61160	Zona pellucida sperm-binding protein (3);	0.193092	0.38720	N	0.001582	D	0.96137	0.8741	H	0.95850	3.73	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97152	0.9832	10	0.87932	D	0	-17.5019	13.9333	0.64010	0.0:0.927:0.0:0.073	.	621;630	Q4VAP1;Q05996	.;ZP2_HUMAN	F	630	ENSP00000219593:C630F	ENSP00000219593:C630F	C	-	2	0	ZP2	21118430	1.000000	0.71417	0.949000	0.38748	0.946000	0.59487	4.081000	0.57627	1.439000	0.47511	0.579000	0.79373	TGT		PASS	0.448	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207365.2			18	45	18	45	---	---	---	---
NFATC2IP	84901	broad.mit.edu	37	16	28970373	28970373	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:28970373G>T	ENST00000320805.4	+	7	1128	c.1053G>T	c.(1051-1053)cgG>cgT	p.R351R	NFATC2IP_ENST00000564978.1_Silent_p.R72R|NFATC2IP_ENST00000568148.1_Silent_p.R59R|RP11-264B17.2_ENST00000569974.1_RNA|MIR4517_ENST00000578855.1_RNA|RP11-264B17.2_ENST00000568057.1_RNA	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	351	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R351R(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						TCCAGCTCCGGGTGCAGGGAA	0.587																																						uc002dru.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1051-1053)CGG>CGT		nuclear factor of activated T-cells,							72.0	67.0	69.0					16																	28970373		2197	4300	6497	SO:0001819	synonymous_variant	84901					cytoplasm|nucleus		g.chr16:28970373G>T	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.1053G>T	16.37:g.28970373G>T						uc010vct.1_Intron|NFATC2IP_uc002drt.2_Silent_p.R72R|NFATC2IP_uc002drv.2_Silent_p.R70R|NFATC2IP_uc010vdh.1_Silent_p.R59R	p.R351R	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			7	1068	+			351			Ubiquitin-like.		B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Silent	SNP	ENST00000320805.4	37	c.1053G>T	CCDS10645.1																																																																																				PASS	0.587	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2	NM_032815		22	96	22	96	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30990907	30990907	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:30990907G>A	ENST00000262519.8	+	14	4486	c.3800G>A	c.(3799-3801)gGg>gAg	p.G1267E		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1267					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.G1267E(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GCCCGGCGCGGGCTGCCTGCC	0.706																																						uc002ead.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(3799-3801)GGG>GAG		SET domain containing 1A							11.0	16.0	14.0					16																	30990907		2161	4231	6392	SO:0001583	missense	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30990907G>A	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3800G>A	16.37:g.30990907G>A	ENSP00000262519:p.Gly1267Glu						p.G1267E	NM_014712	NP_055527	O15047	SET1A_HUMAN			14	4486	+			1267					A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	37	c.3800G>A	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	5.049	0.194696	0.09599	.	.	ENSG00000099381	ENST00000262519	D	0.94537	-3.45	4.96	3.98	0.46160	.	0.363169	0.22867	N	0.054663	D	0.87974	0.6313	L	0.27053	0.805	0.33130	D	0.543006	B	0.14438	0.01	B	0.08055	0.003	D	0.84544	0.0640	10	0.38643	T	0.18	.	6.2331	0.20747	0.0953:0.0:0.7186:0.1861	.	1267	O15047	SET1A_HUMAN	E	1267	ENSP00000262519:G1267E	ENSP00000262519:G1267E	G	+	2	0	SETD1A	30898408	1.000000	0.71417	0.013000	0.15412	0.020000	0.10135	1.550000	0.36223	1.027000	0.39758	0.563000	0.77884	GGG		PASS	0.706	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		14	17	14	17	---	---	---	---
PRSS36	146547	broad.mit.edu	37	16	31151700	31151700	+	Missense_Mutation	SNP	C	C	T	rs199725414		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:31151700C>T	ENST00000268281.4	-	14	2262	c.2204G>A	c.(2203-2205)cGa>cAa	p.R735Q	PRSS36_ENST00000418068.2_Intron|PRSS36_ENST00000569305.1_Missense_Mutation_p.R730Q	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	735	Peptidase S1 3. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.R735Q(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GTCACAGATTCGTTGTGTCAA	0.597																																						uc002ebd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2203-2205)CGA>CAA		protease, serine, 36 precursor							88.0	86.0	87.0					16																	31151700		2197	4300	6497	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31151700C>T	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.2204G>A	16.37:g.31151700C>T	ENSP00000268281:p.Arg735Gln					PRSS36_uc010vff.1_Missense_Mutation_p.R510Q|PRSS36_uc010vfg.1_Missense_Mutation_p.R730Q|PRSS36_uc010vfh.1_Intron	p.R735Q	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			14	2263	-			735			Peptidase S1 3.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.2204G>A	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	9.575	1.121929	0.20877	.	.	ENSG00000178226	ENST00000268281	D	0.88277	-2.36	4.74	3.78	0.43462	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.85940	0.5814	N	0.17278	0.47	0.19300	N	0.999979	D;D	0.76494	0.999;0.999	P;P	0.60415	0.874;0.874	T	0.74813	-0.3537	9	0.19590	T	0.45	.	8.9585	0.35832	0.0:0.8953:0.0:0.1047	.	730;735	B7ZMK8;Q5K4E3	.;POLS2_HUMAN	Q	735	ENSP00000268281:R735Q	ENSP00000268281:R735Q	R	-	2	0	PRSS36	31059201	0.088000	0.21588	0.950000	0.38849	0.228000	0.25075	0.378000	0.20569	1.110000	0.41699	0.555000	0.69702	CGA		PASS	0.597	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		11	90	11	90	---	---	---	---
PRSS36	146547	broad.mit.edu	37	16	31154774	31154774	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:31154774C>A	ENST00000268281.4	-	8	1047	c.989G>T	c.(988-990)cGg>cTg	p.R330L	PRSS36_ENST00000418068.2_Missense_Mutation_p.R330L|PRSS36_ENST00000569305.1_Missense_Mutation_p.R330L	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	330	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)	p.R330L(1)		kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGCCCCTGGCCGCGGGGCCTT	0.667																																						uc002ebd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(988-990)CGG>CTG		protease, serine, 36 precursor							25.0	31.0	29.0					16																	31154774		2194	4296	6490	SO:0001583	missense	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31154774C>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.989G>T	16.37:g.31154774C>A	ENSP00000268281:p.Arg330Leu					PRSS36_uc010vff.1_Missense_Mutation_p.R105L|PRSS36_uc010vfg.1_Missense_Mutation_p.R330L|PRSS36_uc010vfh.1_Missense_Mutation_p.R330L	p.R330L	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			8	1048	-			330			Peptidase S1 2.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	37	c.989G>T	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.006582	0.35415	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	D;D	0.88975	-2.45;-2.45	4.11	-0.363	0.12556	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.83427	0.5252	L	0.49571	1.57	0.09310	N	0.99999	B;P;P	0.49307	0.165;0.922;0.922	B;P;P	0.45681	0.05;0.49;0.49	T	0.71968	-0.4432	9	0.25751	T	0.34	.	3.3174	0.07038	0.1829:0.4954:0.0:0.3217	.	330;330;330	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	L	330	ENSP00000268281:R330L;ENSP00000407160:R330L	ENSP00000268281:R330L	R	-	2	0	PRSS36	31062275	0.013000	0.17824	0.170000	0.22879	0.930000	0.56654	-0.083000	0.11286	0.049000	0.15920	0.491000	0.48974	CGG		PASS	0.667	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502		29	76	29	76	---	---	---	---
VPS35	55737	broad.mit.edu	37	16	46695755	46695755	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:46695755C>A	ENST00000299138.7	-	16	2144	c.2086G>T	c.(2086-2088)Gta>Tta	p.V696L	RP11-93O14.2_ENST00000569353.1_RNA	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	696					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)		p.V696L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CACTCCATTACCCTCTTGCCT	0.398																																						uc002eef.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2086-2088)GTA>TTA		vacuolar protein sorting 35							97.0	99.0	98.0					16																	46695755		2203	4300	6503	SO:0001583	missense	55737				protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding	g.chr16:46695755C>A	AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.2086G>T	16.37:g.46695755C>A	ENSP00000299138:p.Val696Leu					VPS35_uc002eed.2_3'UTR|VPS35_uc002eee.2_Missense_Mutation_p.V657L	p.V696L	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN			16	2185	-		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	696					Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	c.2086G>T	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	35	5.503873	0.96371	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.58652	0.32	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.75810	0.3900	M	0.90595	3.13	0.80722	D	1	D	0.56746	0.977	P	0.51657	0.676	T	0.82106	-0.0621	10	0.87932	D	0	-16.1542	19.427	0.94746	0.0:1.0:0.0:0.0	.	696	Q96QK1	VPS35_HUMAN	L	696;561	ENSP00000299138:V696L	ENSP00000299138:V696L	V	-	1	0	VPS35	45253256	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.775000	0.85489	2.577000	0.86979	0.561000	0.74099	GTA		PASS	0.398	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3			24	124	24	124	---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47622893	47622893	+	Silent	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:47622893A>G	ENST00000323584.5	+	10	972	c.948A>G	c.(946-948)acA>acG	p.T316T	PHKB_ENST00000455779.1_Silent_p.T309T|PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000566044.1_Silent_p.T309T|PHKB_ENST00000299167.8_Silent_p.T316T	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta	316					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.T316T(2)|p.T309T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TTAGCCAGACACTTGATAAAG	0.403																																						uc002eev.3																			3	Substitution - coding silent(3)		lung(3)	ovary(1)|large_intestine(1)|breast(1)	3						c.(946-948)ACA>ACG		phosphorylase kinase, beta isoform a							86.0	86.0	86.0					16																	47622893		2201	4300	6501	SO:0001819	synonymous_variant	5257				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	g.chr16:47622893A>G		CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.948A>G	16.37:g.47622893A>G						PHKB_uc002eeu.3_Silent_p.T309T	p.T316T	NM_000293	NP_000284	Q93100	KPBB_HUMAN			10	1000	+		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)	316					Q8N4T5	Silent	SNP	ENST00000323584.5	37	c.948A>G	CCDS10729.1																																																																																				PASS	0.403	PHKB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000430413.1			16	61	16	61	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50744941	50744941	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:50744941T>A	ENST00000300589.2	+	4	1224	c.1119T>A	c.(1117-1119)cgT>cgA	p.R373R	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	373	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		R -> C (associated with Crohn disease). {ECO:0000269|PubMed:11385576}.		activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.R373R(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACCCTGACCGTGTCCTGTTAA	0.542																																						uc002egm.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1117-1119)CGT>CGA		nucleotide-binding oligomerization domain							95.0	80.0	85.0					16																	50744941		2198	4300	6498	SO:0001819	synonymous_variant	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50744941T>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1119T>A	16.37:g.50744941T>A						NOD2_uc010cbk.1_Silent_p.R346R|NOD2_uc002egl.1_Silent_p.R151R|NOD2_uc010cbl.1_Silent_p.R151R|NOD2_uc010cbm.1_Silent_p.R151R|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.R373R	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1224	+		all_cancers(37;0.0156)	373		R -> C (associated with Crohn disease).	NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	ENST00000300589.2	37	c.1119T>A	CCDS10746.1																																																																																				PASS	0.542	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		17	81	17	81	---	---	---	---
CHST5	23563	broad.mit.edu	37	16	75563610	75563610	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:75563610C>A	ENST00000336257.3	-	3	2067	c.673G>T	c.(673-675)Gac>Tac	p.D225Y	RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Missense_Mutation_p.D231Y	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	225					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)	p.D225Y(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCCCGCGGGTCGCGCACCAGG	0.701																																						uc002fei.2																			1	Substitution - Missense(1)		lung(1)		0						c.(673-675)GAC>TAC		carbohydrate (N-acetylglucosamine 6-O)							31.0	37.0	35.0					16																	75563610		2194	4295	6489	SO:0001583	missense	23563				N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75563610C>A	AF176839	CCDS10919.1	16q23.1	2008-02-05			ENSG00000135702	ENSG00000135702		"""Sulfotransferases, membrane-bound"""	1973	protein-coding gene	gene with protein product		604817				10491328, 11017086	Standard	NM_024533		Approved	I-GLCNAC-6-ST, FLJ22167	uc002fei.3	Q9GZS9	OTTHUMG00000137610	ENST00000336257.3:c.673G>T	16.37:g.75563610C>A	ENSP00000338783:p.Asp225Tyr					CHST5_uc002fej.1_Missense_Mutation_p.D231Y	p.D225Y	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN			3	2068	-			225			Lumenal (Potential).|PAPS (By similarity).		B2RV23|Q7LCN3|Q9UBY3	Missense_Mutation	SNP	ENST00000336257.3	37	c.673G>T	CCDS10919.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723754	0.48728	.	.	ENSG00000135702	ENST00000336257;ENST00000541075	D;D	0.87029	-2.2;-2.2	2.84	2.84	0.33178	Sulfotransferase domain (1);	0.051232	0.85682	D	0.000000	D	0.94019	0.8084	M	0.91196	3.185	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94905	0.8060	10	0.87932	D	0	.	12.6629	0.56824	0.0:1.0:0.0:0.0	.	231;225	Q9GZS9-2;Q9GZS9	.;CHST5_HUMAN	Y	225;231	ENSP00000338783:D225Y;ENSP00000441220:D231Y	ENSP00000338783:D225Y	D	-	1	0	CHST5	74121111	1.000000	0.71417	0.992000	0.48379	0.210000	0.24377	7.308000	0.78929	1.583000	0.49898	0.313000	0.20887	GAC		PASS	0.701	CHST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269025.2	NM_012126		14	46	14	46	---	---	---	---
MON1B	22879	broad.mit.edu	37	16	77225393	77225393	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:77225393G>A	ENST00000248248.3	+	2	361	c.11G>A	c.(10-12)gGa>gAa	p.G4E	MON1B_ENST00000439557.2_Missense_Mutation_p.G4E|MON1B_ENST00000320859.6_Missense_Mutation_p.G4E|MON1B_ENST00000545553.1_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	4								p.G4E(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ATGGAGGTCGGAGGAGACACT	0.622																																						uc002fez.2																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)GGA>GAA		MON1 homolog B							20.0	22.0	21.0					16																	77225393		2198	4300	6498	SO:0001583	missense	22879						protein binding	g.chr16:77225393G>A	BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.11G>A	16.37:g.77225393G>A	ENSP00000248248:p.Gly4Glu					MON1B_uc010vnf.1_Missense_Mutation_p.G4E|MON1B_uc010vng.1_Intron|MON1B_uc002ffa.2_5'Flank	p.G4E	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN			2	341	+			4					B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	c.11G>A	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098629	0.76870	.	.	ENSG00000103111	ENST00000248248;ENST00000320859;ENST00000439557	.	.	.	4.23	3.24	0.37175	.	0.497718	0.15344	N	0.267362	T	0.13500	0.0327	N	0.08118	0	0.29055	N	0.884239	B;B	0.32467	0.372;0.056	B;B	0.26416	0.069;0.008	T	0.20174	-1.0283	9	0.05833	T	0.94	-3.8871	7.3932	0.26921	0.128:0.0:0.872:0.0	.	4;4	E7EW32;Q7L1V2	.;MON1B_HUMAN	E	4	.	ENSP00000248248:G4E	G	+	2	0	MON1B	75782894	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.664000	0.46783	1.055000	0.40461	0.448000	0.29417	GGA		PASS	0.622	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940		3	26	3	26	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81199487	81199487	+	RNA	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:81199487G>A	ENST00000525539.1	-	0	3174				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.P374S(1)|p.P1059S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGCATGGCTGGAAGGCCCCCT	0.562																																						uc002fgh.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3175-3177)CCA>TCA		polycystin 1-like 2 isoform a							38.0	38.0	38.0					16																	81199487		1948	4158	6106			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81199487G>A	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81199487G>A						PKD1L2_uc002fgg.1_RNA	p.P1059S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN			19	3175	-			1059			REJ.|Extracellular (Potential).		Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.3175C>T																																																																																					PASS	0.562	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			12	13	12	13	---	---	---	---
FBXO31	79791	broad.mit.edu	37	16	87367544	87367544	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:87367544G>A	ENST00000311635.7	-	8	1357	c.1345C>T	c.(1345-1347)Ccc>Tcc	p.P449S	RP11-178L8.4_ENST00000568879.1_Silent_p.C112C	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	449					cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)	p.P449S(1)|p.P277S(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ACGCCCACGGGCAGCACGAAC	0.672																																						uc002fjw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1345-1347)CCC>TCC		F-box protein 31							36.0	43.0	41.0					16																	87367544		2197	4297	6494	SO:0001583	missense	79791				cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	g.chr16:87367544G>A	BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.1345C>T	16.37:g.87367544G>A	ENSP00000310841:p.Pro449Ser					FBXO31_uc010vot.1_Missense_Mutation_p.P277S|FBXO31_uc002fjv.2_Missense_Mutation_p.P341S	p.P449S	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0272)	8	1389	-			449					Q5K680|Q8WYV1|Q96D73|Q9UFV4	Missense_Mutation	SNP	ENST00000311635.7	37	c.1345C>T	CCDS32501.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453899	0.63290	.	.	ENSG00000103264	ENST00000311635	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.81193	-0.1044	9	0.66056	D	0.02	-1.5233	18.9494	0.92636	0.0:0.0:1.0:0.0	.	449;341	Q5XUX0;Q5XUX0-2	FBX31_HUMAN;.	S	449	.	ENSP00000310841:P449S	P	-	1	0	FBXO31	85925045	1.000000	0.71417	0.899000	0.35326	0.118000	0.20060	7.479000	0.81095	2.471000	0.83476	0.561000	0.74099	CCC		PASS	0.672	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2	NM_024735		10	58	10	58	---	---	---	---
GALNS	2588	broad.mit.edu	37	16	88908314	88908314	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:88908314C>A	ENST00000268695.5	-	3	398	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	GALNS_ENST00000565364.1_5'UTR|GALNS_ENST00000542788.1_Intron	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	104	Catalytic domain.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.A104S(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		CCGTTTCTGGCATGGGCGTTG	0.632																																					GBM(129;1929 2344 25209 33204)	uc002fly.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(310-312)GCC>TCC		galactosamine (N-acetyl)-6-sulfate sulfatase	Hyaluronidase(DB00070)						139.0	95.0	110.0					16																	88908314		2195	4299	6494	SO:0001583	missense	2588					lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity	g.chr16:88908314C>A	D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.310G>T	16.37:g.88908314C>A	ENSP00000268695:p.Ala104Ser					GALNS_uc010cid.2_Missense_Mutation_p.A110S|GALNS_uc002flz.3_5'UTR	p.A104S	NM_000512	NP_000503	P34059	GALNS_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0496)	3	399	-			104					Q86VK3	Missense_Mutation	SNP	ENST00000268695.5	37	c.310G>T	CCDS10970.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.33|15.33	2.802014|2.802014	0.50315|0.50315	.|.	.|.	ENSG00000141012|ENSG00000141012	ENST00000268695|ENST00000439266	D|.	0.98585|.	-5.01|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72495|0.72495	0.3467|0.3467	L|L	0.52011|0.52011	1.625|1.625	0.80722|0.80722	D|D	1|1	D;D|.	0.64830|.	0.986;0.994|.	P;D|.	0.68483|.	0.848;0.958|.	T|T	0.74694|0.74694	-0.3579|-0.3579	10|6	0.21014|0.87932	T|D	0.42|0	.|.	19.199|19.199	0.93701|0.93701	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	104;104|.	B2R6P1;P34059|.	.;GALNS_HUMAN|.	S|I	104|62	ENSP00000268695:A104S|.	ENSP00000268695:A104S|ENSP00000402127:M62I	A|M	-|-	1|3	0|0	GALNS|GALNS	87435815|87435815	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.624000|0.624000	0.37722|0.37722	7.578000|7.578000	0.82498|0.82498	2.620000|2.620000	0.88729|0.88729	0.561000|0.561000	0.74099|0.74099	GCC|ATG		PASS	0.632	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269543.1			5	25	5	25	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89927144	89927144	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr16:89927144G>A	ENST00000378247.3	+	10	1559	c.1516G>A	c.(1516-1518)Ggc>Agc	p.G506S	SPIRE2_ENST00000393062.2_Missense_Mutation_p.G506S	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	506					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.G506S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CAGCAACCGGGGCTCCTCGGG	0.677											OREG0024056	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002foz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1516-1518)GGC>AGC		spire homolog 2							27.0	26.0	27.0					16																	89927144		2188	4285	6473	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89927144G>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1516G>A	16.37:g.89927144G>A	ENSP00000367494:p.Gly506Ser		OREG0024056	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1271	SPIRE2_uc010ciw.1_Missense_Mutation_p.G506S|SPIRE2_uc002fpa.1_Missense_Mutation_p.G458S|SPIRE2_uc010cix.1_Missense_Mutation_p.G373S	p.G506S	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	10	1568	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	506					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.1516G>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	7.489	0.650363	0.14516	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.40476	1.05;1.03	5.35	-0.507	0.11985	.	0.683527	0.16264	N	0.222095	T	0.19005	0.0456	N	0.17872	0.535	0.19575	N	0.999966	B;B;B;B	0.17667	0.013;0.013;0.023;0.011	B;B;B;B	0.14578	0.007;0.011;0.011;0.01	T	0.25082	-1.0142	10	0.08179	T	0.78	-12.3037	4.4057	0.11407	0.4526:0.165:0.3824:0.0	.	373;506;458;506	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	S	506	ENSP00000367494:G506S;ENSP00000376782:G506S	ENSP00000367494:G506S	G	+	1	0	SPIRE2	88454645	0.011000	0.17503	0.003000	0.11579	0.207000	0.24258	0.384000	0.20668	-0.243000	0.09653	0.655000	0.94253	GGC		PASS	0.677	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		6	9	6	9	---	---	---	---
CLUH	23277	broad.mit.edu	37	17	2601427	2601427	+	Missense_Mutation	SNP	T	T	C	rs373340704		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:2601427T>C	ENST00000570628.2	-	10	1715	c.1610A>G	c.(1609-1611)aAc>aGc	p.N537S	CLUH_ENST00000538975.1_Missense_Mutation_p.N537S|CLUH_ENST00000435359.1_Missense_Mutation_p.N537S			O75153	CLU_HUMAN	clustered mitochondria (cluA/CLU1) homolog	537					intracellular distribution of mitochondria (GO:0048312)	cytoplasm (GO:0005737)		p.N537S(2)									GTCACGGTCGTTGAGCACCTG	0.642																																						uc002fuy.1																			2	Substitution - Missense(2)		lung(2)	breast(2)	2						c.(1609-1611)AAC>AGC		hypothetical protein LOC23277		T	SER/ASN	0,4362		0,0,2181	39.0	50.0	47.0		1610	5.7	0.9	17		47	1,8505		0,1,4252	no	missense	KIAA0664	NM_015229.3	46	0,1,6433	CC,CT,TT		0.0118,0.0,0.0078	benign	537/1310	2601427	1,12867	2181	4253	6434	SO:0001583	missense	23277						binding	g.chr17:2601427T>C	AB014564	CCDS45572.1	17p13.3	2012-12-18	2012-11-30	2012-11-30	ENSG00000132361	ENSG00000132361			29094	protein-coding gene	gene with protein product			"""KIAA0664"""	KIAA0664			Standard	XM_005256567		Approved	CLU1	uc002fuy.1	O75153	OTTHUMG00000177575	ENST00000570628.2:c.1610A>G	17.37:g.2601427T>C	ENSP00000458986:p.Asn537Ser					KIAA0664_uc002fux.1_Missense_Mutation_p.N469S	p.N537S	NM_015229	NP_056044	O75153	K0664_HUMAN			10	1696	-			537					Q6AHY2|Q6P3X7|Q6ZUG8|Q8N4U7|Q9BTA3|Q9H979	Missense_Mutation	SNP	ENST00000570628.2	37	c.1610A>G	CCDS45572.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455976	0.43634	0.0	1.18E-4	ENSG00000132361	ENST00000435359;ENST00000322335;ENST00000538975	T;T	0.80393	-1.37;-1.37	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.72301	0.3443	N	0.16233	0.39	0.80722	D	1	B;B	0.34349	0.232;0.45	B;B	0.39805	0.206;0.31	T	0.72798	-0.4184	10	0.39692	T	0.17	.	15.1968	0.73096	0.0:0.0:0.0:1.0	.	537;537	O75153;C9J6D7	K0664_HUMAN;.	S	537	ENSP00000388872:N537S;ENSP00000439628:N537S	ENSP00000320468:N537S	N	-	2	0	KIAA0664	2548177	1.000000	0.71417	0.938000	0.37757	0.253000	0.25986	7.698000	0.84413	2.189000	0.69895	0.533000	0.62120	AAC		PASS	0.642	CLUH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437807.2	NM_015229		4	6	4	6	---	---	---	---
P2RX1	5023	broad.mit.edu	37	17	3807227	3807227	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:3807227G>T	ENST00000225538.3	-	5	793	c.519C>A	c.(517-519)atC>atA	p.I173I		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	173					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ceramide biosynthetic process (GO:0046513)|insemination (GO:0007320)|ion transport (GO:0006811)|neuronal action potential (GO:0019228)|platelet activation (GO:0030168)|positive regulation of ion transport (GO:0043270)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of vascular smooth muscle contraction (GO:0003056)|response to ATP (GO:0033198)|serotonin secretion by platelet (GO:0002554)|signal transduction (GO:0007165)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|vasoconstriction (GO:0042310)	external side of cell outer membrane (GO:0031240)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)	p.I173I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GTTACCGCGGGATGTCGTCAT	0.572																																						uc002fww.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(517-519)ATC>ATA		purinergic receptor P2X1							101.0	82.0	88.0					17																	3807227		2203	4300	6503	SO:0001819	synonymous_variant	5023				platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr17:3807227G>T	X83688	CCDS11040.1	17p13.3	2012-01-17				ENSG00000108405		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8533	protein-coding gene	gene with protein product		600845				8834001	Standard	NM_002558		Approved	P2X1	uc002fww.3	P51575		ENST00000225538.3:c.519C>A	17.37:g.3807227G>T							p.I173I	NM_002558	NP_002549	P51575	P2RX1_HUMAN		LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)	5	960	-			173			Extracellular (Potential).		Q9UK84	Silent	SNP	ENST00000225538.3	37	c.519C>A	CCDS11040.1																																																																																				PASS	0.572	P2RX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438391.1	NM_002558		10	70	10	70	---	---	---	---
PITPNM3	83394	broad.mit.edu	37	17	6374626	6374626	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:6374626C>A	ENST00000262483.8	-	12	1566	c.1479G>T	c.(1477-1479)cgG>cgT	p.R493R	PITPNM3_ENST00000576664.1_5'UTR|PITPNM3_ENST00000421306.3_Silent_p.R457R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	493	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)	p.R493R(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GCGGGCTGTCCCGGGAGCTGC	0.662																																						uc002gdd.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1477-1479)CGG>CGT		PITPNM family member 3 isoform 1							16.0	20.0	18.0					17																	6374626		2203	4298	6501	SO:0001819	synonymous_variant	83394				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding	g.chr17:6374626C>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1479G>T	17.37:g.6374626C>A						PITPNM3_uc010cln.2_Silent_p.R457R|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Silent_p.R84R	p.R493R	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN		Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)	12	1630	-			493			DDHD.		A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	ENST00000262483.8	37	c.1479G>T	CCDS11076.1																																																																																				PASS	0.662	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	NM_031220		8	12	8	12	---	---	---	---
TEKT1	83659	broad.mit.edu	37	17	6733599	6733599	+	Missense_Mutation	SNP	G	G	C	rs143066578		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:6733599G>C	ENST00000338694.2	-	2	226	c.97C>G	c.(97-99)Cga>Gga	p.R33G	TEKT1_ENST00000535086.1_5'UTR	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	33						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.R33*(1)|p.R33G(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				CGTTCTGATCGGGACCTTTGA	0.468																																						uc002gdt.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.R33*(1)	lung(1)|skin(1)	ovary(1)|skin(1)	2						c.(97-99)CGA>GGA		tektin 1							102.0	95.0	97.0					17																	6733599		2203	4300	6503	SO:0001583	missense	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6733599G>C		CCDS11083.1	17p13.2	2011-05-23			ENSG00000167858	ENSG00000167858			15534	protein-coding gene	gene with protein product		609002				11606253	Standard	NM_053285		Approved		uc002gdt.3	Q969V4	OTTHUMG00000102063	ENST00000338694.2:c.97C>G	17.37:g.6733599G>C	ENSP00000341346:p.Arg33Gly					TEKT1_uc010vth.1_5'UTR	p.R33G	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN			2	207	-		Myeloproliferative disorder(207;0.0255)	33			Potential.		D3DTM7	Missense_Mutation	SNP	ENST00000338694.2	37	c.97C>G	CCDS11083.1	.	.	.	.	.	.	.	.	.	.	G	4.186	0.033129	0.08101	.	.	ENSG00000167858	ENST00000338694	T	0.02525	4.26	4.92	2.71	0.32032	.	0.571781	0.17706	N	0.164752	T	0.04227	0.0117	M	0.64404	1.975	0.80722	D	1	B	0.13594	0.008	B	0.22152	0.038	T	0.30208	-0.9986	10	0.19590	T	0.45	.	10.3701	0.44049	0.0:0.0:0.5124:0.4876	.	33	Q969V4	TEKT1_HUMAN	G	33	ENSP00000341346:R33G	ENSP00000341346:R33G	R	-	1	2	TEKT1	6674323	0.920000	0.31207	0.957000	0.39632	0.016000	0.09150	1.670000	0.37502	1.164000	0.42652	0.655000	0.94253	CGA		PASS	0.468	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		22	55	22	55	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577536	7577536	+	Missense_Mutation	SNP	T	T	A	rs587782082		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:7577536T>A	ENST00000269305.4	-	7	934	c.745A>T	c.(745-747)Agg>Tgg	p.R249W	TP53_ENST00000420246.2_Missense_Mutation_p.R249W|TP53_ENST00000413465.2_Missense_Mutation_p.R249W|TP53_ENST00000455263.2_Missense_Mutation_p.R249W|TP53_ENST00000359597.4_Missense_Mutation_p.R249W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R249W	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	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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)	AGGATGGGCCTCCGGTTCATG	0.567		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		95	Substitution - Missense(67)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - coding silent(1)	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.N247_R248delNR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.G245fs*14(1)|p.R249fs*19(1)	lung(22)|upper_aerodigestive_tract(10)|urinary_tract(9)|large_intestine(7)|breast(7)|central_nervous_system(5)|biliary_tract(5)|oesophagus(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|endometrium(3)|ovary(3)|soft_tissue(2)|skin(2)|peritoneum(1)|small_intestine(1)|pancreas(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(745-747)AGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							153.0	113.0	126.0					17																	7577536		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.chr17:7577536T>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.745A>T	17.37:g.7577536T>A	ENSP00000269305:p.Arg249Trp	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.R249W|TP53_uc002gih.2_Missense_Mutation_p.R249W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117W|TP53_uc010cng.1_Missense_Mutation_p.R117W|TP53_uc002gii.1_Missense_Mutation_p.R117W|TP53_uc010cnh.1_Missense_Mutation_p.R249W|TP53_uc010cni.1_Missense_Mutation_p.R249W|TP53_uc002gij.2_Missense_Mutation_p.R249W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156W|TP53_uc002gio.2_Missense_Mutation_p.R117W	p.R249W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	939	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|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.745A>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.796639	0.70567	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	-0.0234	0.13943	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99857	0.9933	M	0.92367	3.3	0.50313	D	0.999866	P;D;P;B;P	0.89917	0.797;1.0;0.831;0.422;0.862	P;D;P;B;P	0.97110	0.48;1.0;0.753;0.394;0.655	D	0.97959	1.0336	10	0.87932	D	0	-3.0658	12.7443	0.57273	0.0:0.0:0.4175:0.5825	.	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	W	249;249;249;249;249;249;238;117	ENSP00000410739:R249W;ENSP00000352610:R249W;ENSP00000269305:R249W;ENSP00000398846:R249W;ENSP00000391127:R249W;ENSP00000391478:R249W;ENSP00000425104:R117W	ENSP00000269305:R249W	R	-	1	2	TP53	7518261	0.009000	0.17119	0.995000	0.50966	0.814000	0.46013	0.039000	0.13884	-0.029000	0.13827	-0.648000	0.03929	AGG		PASS	0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	64	15	64	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000420246.2_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000455263.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_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		27	49	27	49	---	---	---	---
PFAS	5198	broad.mit.edu	37	17	8161517	8161517	+	Splice_Site	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:8161517G>T	ENST00000314666.6	+	11	1469	c.1336G>T	c.(1336-1338)Ggc>Tgc	p.G446C	PFAS_ENST00000545834.1_Splice_Site_p.G22C	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	446					'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)	p.G446C(1)		central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	CCCAGAGCCAGGTAAGAGCCT	0.562																																						uc002gkr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(1336-1338)GGC>TGC		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						56.0	56.0	56.0					17																	8161517		2203	4300	6503	SO:0001630	splice_region_variant	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8161517G>T	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.1336+1G>T	17.37:g.8161517G>T						PFAS_uc010vuv.1_Missense_Mutation_p.G22C	p.G446C	NM_012393	NP_036525	O15067	PUR4_HUMAN			11	1477	+			446					A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.1336G>T	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.401779	0.83120	.	.	ENSG00000178921	ENST00000545834;ENST00000314666	T;T	0.58652	0.32;0.32	5.78	5.78	0.91487	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.85509	0.5713	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90439	0.4430	10	0.87932	D	0	-24.096	17.4989	0.87726	0.0:0.0:1.0:0.0	.	446	O15067	PUR4_HUMAN	C	22;446	ENSP00000441706:G22C;ENSP00000313490:G446C	ENSP00000313490:G446C	G	+	1	0	PFAS	8102242	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	8.458000	0.90364	2.739000	0.93911	0.561000	0.74099	GGC		PASS	0.562	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2		Missense_Mutation	46	59	46	59	---	---	---	---
NDEL1	81565	broad.mit.edu	37	17	8351896	8351896	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:8351896G>T	ENST00000334527.7	+	5	615	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Nonsense_Mutation_p.E140*|NDEL1_ENST00000402554.3_Nonsense_Mutation_p.E140*|NDEL1_ENST00000380025.4_Nonsense_Mutation_p.E140*	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	140	Interaction with KATNB1. {ECO:0000250}.|Self-association. {ECO:0000250}.				activation of Cdc42 GTPase activity (GO:0032864)|central nervous system neuron axonogenesis (GO:0021955)|centrosome localization (GO:0051642)|cerebral cortex radially oriented cell migration (GO:0021799)|chromosome segregation (GO:0007059)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|neurofilament cytoskeleton organization (GO:0060052)|neuron migration (GO:0001764)|neuron projection extension (GO:1990138)|nuclear envelope disassembly (GO:0051081)|positive regulation of axon extension (GO:0045773)|positive regulation of axon regeneration (GO:0048680)|retrograde axon cargo transport (GO:0008090)|vesicle transport along microtubule (GO:0047496)	axon hillock (GO:0043203)|cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|neurofilament cytoskeleton (GO:0060053)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)	oligopeptidase activity (GO:0070012)	p.E140*(2)		large_intestine(6)|lung(4)|skin(3)	13						GGAAGACTTTGAACAAAGGCT	0.333																																						uc002glj.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(418-420)GAA>TAA		nudE nuclear distribution gene E homolog (A.							80.0	79.0	79.0					17																	8351896		2203	4300	6503	SO:0001587	stop_gained	81565				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle		g.chr17:8351896G>T	AF182078	CCDS11143.1, CCDS32564.1	17p13.1	2013-08-06	2013-08-06	2003-04-16	ENSG00000166579	ENSG00000166579			17620	protein-coding gene	gene with protein product		607538	"""nudE nuclear distribution gene E homolog (A. nidulans)-like 1"", ""nudE nuclear distribution E homolog (A. nidulans)-like 1"""			11163260, 11163259	Standard	NM_001025579		Approved	NUDEL, MITAP1, NDE1L1, NDE2	uc002glj.4	Q9GZM8	OTTHUMG00000108193	ENST00000334527.7:c.418G>T	17.37:g.8351896G>T	ENSP00000333982:p.Glu140*					NDEL1_uc002gli.2_Nonsense_Mutation_p.E140*	p.E140*	NM_030808	NP_110435	Q9GZM8	NDEL1_HUMAN			5	615	+			140			Interaction with KATNB1 (By similarity).|Potential.|Self-association (By similarity).		B3KP93|D3DTS0|J3QT32|Q86T80|Q8TAR7|Q9UH50	Nonsense_Mutation	SNP	ENST00000334527.7	37	c.418G>T	CCDS11143.1	.	.	.	.	.	.	.	.	.	.	G	35	5.577400	0.96565	.	.	ENSG00000166579	ENST00000299734;ENST00000380025;ENST00000402554;ENST00000334527	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-5.0685	17.9345	0.89008	0.0:0.0:1.0:0.0	.	.	.	.	X	140;140;195;140	.	ENSP00000299734:E140X	E	+	1	0	NDEL1	8292621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.567000	0.98161	2.467000	0.83353	0.650000	0.86243	GAA		PASS	0.333	NDEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226999.2	NM_030808		18	65	18	65	---	---	---	---
STX8	9482	broad.mit.edu	37	17	9480081	9480081	+	5'Flank	SNP	T	T	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:9480081T>G	ENST00000306357.4	-	0	0				WDR16_ENST00000352665.5_Splice_Site_p.N23K|WDR16_ENST00000576499.1_Splice_Site_p.N23K|STX8_ENST00000573373.1_5'Flank|STX8_ENST00000574431.1_5'Flank|WDR16_ENST00000396219.3_Splice_Site_p.N23K	NM_004853.2	NP_004844.1	Q9UNK0	STX8_HUMAN	syntaxin 8						endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|transport (GO:0006810)|vesicle fusion (GO:0006906)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.N23K(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1)	12						TCGGCTTCAATGGTGAGGCCT	0.537											OREG0024167	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gly.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(67-69)AAT>AAG		WD40-repeat protein upregulated in HCC isoform							52.0	62.0	59.0					17																	9480081		1949	4146	6095	SO:0001631	upstream_gene_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9480081T>G	AF115323	CCDS32565.1	17p13.1	2012-05-25			ENSG00000170310	ENSG00000170310			11443	protein-coding gene	gene with protein product		604203				9852078, 10198254	Standard	NM_004853		Approved	CARB	uc002glx.3	Q9UNK0	OTTHUMG00000177844		17.37:g.9480081T>G	Exception_encountered		OREG0024167	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	657	STX8_uc002glx.2_5'Flank|WDR16_uc002glz.2_Missense_Mutation_p.N23K|WDR16_uc010coc.2_5'UTR	p.N23K	NM_145054	NP_659491	Q8N1V2	WDR16_HUMAN			1	138	+			23					O60712|Q53XT8	Missense_Mutation	SNP	ENST00000306357.4	37	c.69T>G	CCDS32565.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.363952	0.41902	.	.	ENSG00000166596	ENST00000352665;ENST00000396219	T;D	0.91237	1.49;-2.81	5.67	2.21	0.28008	WD40 repeat-like-containing domain (1);	.	.	.	.	D	0.83566	0.5282	L	0.38175	1.15	0.80722	D	1	B;B	0.29835	0.0;0.258	B;B	0.32533	0.0;0.147	T	0.72478	-0.4281	9	0.17832	T	0.49	.	8.3247	0.32149	0.0:0.233:0.0:0.767	.	23;23	Q8N1V2-3;Q8N1V2	.;WDR16_HUMAN	K	23	ENSP00000339449:N23K;ENSP00000379521:N23K	ENSP00000339449:N23K	N	+	3	2	WDR16	9420806	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.787000	0.26858	0.417000	0.25871	0.533000	0.62120	AAT		PASS	0.537	STX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439206.3	NM_004853		22	41	22	41	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9830031	9830031	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:9830031T>A	ENST00000432992.2	-	10	1101	c.941A>T	c.(940-942)gAc>gTc	p.D314V	GAS7_ENST00000579158.1_Missense_Mutation_p.D250V|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000542249.1_Missense_Mutation_p.D250V|GAS7_ENST00000580865.1_Missense_Mutation_p.D174V|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.D250V|GAS7_ENST00000585266.1_Missense_Mutation_p.D254V|GAS7_ENST00000323816.4_Missense_Mutation_p.D254V|GAS7_ENST00000396115.2_Intron	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	314					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.D174V(1)|p.D314V(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						CTTCTTCATGTCTTTCTTGAA	0.592			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		2	Substitution - Missense(2)		lung(2)	lung(1)|pancreas(1)	2						c.(940-942)GAC>GTC		growth arrest-specific 7 isoform c							102.0	96.0	98.0					17																	9830031		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9830031T>A	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.941A>T	17.37:g.9830031T>A	ENSP00000407552:p.Asp314Val					GAS7_uc010vvc.1_Missense_Mutation_p.D128V|GAS7_uc002gmh.1_Missense_Mutation_p.D174V|GAS7_uc010vvd.1_Missense_Mutation_p.D266V|GAS7_uc002gmi.2_Missense_Mutation_p.D250V|GAS7_uc002gmj.1_Missense_Mutation_p.D254V|GAS7_uc010coh.1_Missense_Mutation_p.D254V	p.D314V	NM_201433	NP_958839	O60861	GAS7_HUMAN			10	1102	-			314			Potential.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.941A>T	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	T	29.8	5.034513	0.93575	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000432992;ENST00000537970;ENST00000541114	T	0.39592	1.07	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.36552	0.0971	N	0.24115	0.695	0.80722	D	1	B;D;B;D	0.59357	0.272;0.985;0.147;0.985	B;P;B;P	0.47206	0.05;0.541;0.064;0.541	T	0.09122	-1.0689	9	.	.	.	-13.2499	15.433	0.75116	0.0:0.0:0.0:1.0	.	266;254;174;314	B7Z2L1;A8KAC2;O60861-2;O60861	.;.;.;GAS7_HUMAN	V	314;254;253;174;254;128	ENSP00000379421:D254V	.	D	-	2	0	GAS7	9770756	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.915000	0.87484	2.288000	0.76882	0.533000	0.62120	GAC		PASS	0.592	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		43	69	43	69	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10356533	10356533	+	Missense_Mutation	SNP	A	A	G	rs545765854		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:10356533A>G	ENST00000255381.2	-	24	3157	c.3047T>C	c.(3046-3048)aTg>aCg	p.M1016T	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1016					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.M1016T(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTCCTCCTCCATCTGCAGGTC	0.493													A|||	1	0.000199681	0.0	0.0	5008	,	,		19366	0.0		0.0	False		,,,				2504	0.001					uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3046-3048)ATG>ACG		myosin, heavy polypeptide 4, skeletal muscle							294.0	269.0	277.0					17																	10356533		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356533A>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3047T>C	17.37:g.10356533A>G	ENSP00000255381:p.Met1016Thr					uc002gml.1_Intron	p.M1016T	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			24	3158	-			1016			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.3047T>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.443294	0.25987	.	.	ENSG00000141048	ENST00000255381	D	0.82167	-1.58	5.28	4.31	0.51392	.	0.203527	0.23524	U	0.047257	T	0.61311	0.2337	N	0.01352	-0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57648	-0.7775	10	0.54805	T	0.06	.	13.4196	0.60989	0.0776:0.0:0.9224:0.0	.	1016	Q9Y623	MYH4_HUMAN	T	1016	ENSP00000255381:M1016T	ENSP00000255381:M1016T	M	-	2	0	MYH4	10297258	0.985000	0.35326	1.000000	0.80357	0.880000	0.50808	1.557000	0.36299	1.325000	0.45301	-0.242000	0.12053	ATG		PASS	0.493	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		55	76	55	76	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12656550	12656550	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:12656550A>G	ENST00000343344.4	+	10	1945	c.1945A>G	c.(1945-1947)Atc>Gtc	p.I649V	MYOCD_ENST00000425538.1_Missense_Mutation_p.I649V|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.I553V			Q8IZQ8	MYCD_HUMAN	myocardin	649					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|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)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.I649V(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCACAGCACATCAGTTTGCC	0.582																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1945-1947)ATC>GTC		myocardin isoform 2							91.0	95.0	94.0					17																	12656550		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656550A>G	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1945A>G	17.37:g.12656550A>G	ENSP00000341835:p.Ile649Val					MYOCD_uc002gno.2_Missense_Mutation_p.I649V|MYOCD_uc002gnp.1_Missense_Mutation_p.I553V|MYOCD_uc002gnq.2_Missense_Mutation_p.I368V	p.I649V	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	2244	+			649					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1945A>G	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.009592	0.54361	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.42900	1.0;0.96	5.7	4.61	0.57282	.	0.191739	0.53938	D	0.000046	T	0.58538	0.2129	M	0.70275	2.135	0.37279	D	0.907731	D;D;D;D	0.64830	0.985;0.987;0.977;0.994	D;D;P;D	0.72625	0.952;0.915;0.815;0.978	T	0.60697	-0.7212	10	0.23302	T	0.38	-23.8203	11.1487	0.48444	0.9245:0.0:0.0755:0.0	.	368;553;649;649	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	V	368;649;649;553;354	ENSP00000341835:I649V;ENSP00000400148:I354V	ENSP00000341835:I649V	I	+	1	0	MYOCD	12597275	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.664000	0.61540	2.179000	0.69175	0.528000	0.53228	ATC		PASS	0.582	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		37	142	37	142	---	---	---	---
TBC1D26	353149	broad.mit.edu	37	17	15641352	15641352	+	Missense_Mutation	SNP	G	G	T	rs368471151		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:15641352G>T	ENST00000437605.2	+	6	490	c.240G>T	c.(238-240)aaG>aaT	p.K80N	AC005324.6_ENST00000433873.1_RNA|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000580194.1_RNA|ZNF286A_ENST00000413242.2_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.K80N	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	80							Rab GTPase activator activity (GO:0005097)	p.K80N(1)		endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		AGTGGCAAAAGATGCTTGCAG	0.542																																						uc010cov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(238-240)AAG>AAT		TBC1 domain family, member 26							169.0	158.0	161.0					17																	15641352		2018	4177	6195	SO:0001583	missense	353149					intracellular	Rab GTPase activator activity	g.chr17:15641352G>T		CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.240G>T	17.37:g.15641352G>T	ENSP00000410111:p.Lys80Asn					TBC1D26_uc010cou.1_Missense_Mutation_p.K80N|TBC1D26_uc002gpb.3_RNA	p.K80N	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)	6	490	+			80					A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	c.240G>T	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	g	10.69	1.420601	0.25639	.	.	ENSG00000214946	ENST00000437605	T	0.32753	1.44	0.888	-1.78	0.07957	Rab-GAP/TBC domain (1);	0.000000	0.85682	U	0.000000	T	0.41627	0.1167	M	0.79258	2.445	0.09310	N	1	D;D	0.56035	0.974;0.968	P;P	0.61477	0.78;0.889	T	0.33497	-0.9866	10	0.51188	T	0.08	.	2.343	0.04264	0.2763:0.3291:0.3947:0.0	.	80;80	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	N	80	ENSP00000410111:K80N	ENSP00000410111:K80N	K	+	3	2	TBC1D26	15582077	0.101000	0.21875	0.001000	0.08648	0.002000	0.02628	0.395000	0.20850	-0.758000	0.04690	-0.688000	0.03733	AAG		PASS	0.542	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571		18	114	18	114	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18039048	18039048	+	Silent	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:18039048A>C	ENST00000205890.5	+	13	4844	c.4506A>C	c.(4504-4506)tcA>tcC	p.S1502S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1502	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S1502S(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGTGGCCTCAGTGGTGAGTG	0.522																																						uc010vxh.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(4504-4506)TCA>TCC		myosin XV							60.0	66.0	64.0					17																	18039048		2083	4220	6303	SO:0001819	synonymous_variant	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18039048A>C	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4506A>C	17.37:g.18039048A>C							p.S1502S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			12	4844	+	all_neural(463;0.228)		1502			Myosin head-like.		B4DFC7	Silent	SNP	ENST00000205890.5	37	c.4506A>C	CCDS42271.1																																																																																				PASS	0.522	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		12	34	12	34	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18070961	18070961	+	Missense_Mutation	SNP	G	G	A	rs545312801	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:18070961G>A	ENST00000205890.5	+	62	10344	c.10006G>A	c.(10006-10008)Gag>Aag	p.E3336K	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.E600K	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3336	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E3336K(1)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCGGCCCAGCGAGCAGCTGCT	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		18395	0.0		0.0	False		,,,				2504	0.002					uc010vxh.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(10006-10008)GAG>AAG		myosin XV							26.0	31.0	29.0					17																	18070961		2076	4218	6294	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18070961G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.10006G>A	17.37:g.18070961G>A	ENSP00000205890:p.Glu3336Lys					MYO15A_uc010vxi.1_Missense_Mutation_p.E600K|MYO15A_uc010vxk.1_Missense_Mutation_p.E29K|MYO15A_uc010vxl.1_Missense_Mutation_p.E325K|MYO15A_uc002gsl.2_Missense_Mutation_p.E343K|MYO15A_uc010vxm.1_Intron|MYO15A_uc010cpv.2_RNA	p.E3336K	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			61	10344	+	all_neural(463;0.228)		3336			Tail.|FERM.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.10006G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.231092	0.58777	.	.	ENSG00000091536	ENST00000205890;ENST00000418233;ENST00000445289	T;D	0.84370	-1.06;-1.84	5.61	4.61	0.57282	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);	.	.	.	.	D	0.89283	0.6671	L	0.48877	1.53	0.80722	D	1	D;D;P;D;D	0.89917	1.0;0.999;0.49;0.977;0.964	D;D;B;P;B	0.70016	0.967;0.966;0.169;0.604;0.429	D	0.89045	0.3451	9	0.45353	T	0.12	.	15.8073	0.78524	0.0:0.1367:0.8633:0.0	.	325;31;600;3336;343	B4DLV9;B4DMU9;B4DFC7;Q9UKN7;Q8TCK0	.;.;.;MYO15_HUMAN;.	K	3336;325;31	ENSP00000205890:E3336K;ENSP00000408800:E325K	ENSP00000205890:E3336K	E	+	1	0	MYO15A	18011686	1.000000	0.71417	0.999000	0.59377	0.857000	0.48899	6.542000	0.73869	1.301000	0.44836	0.591000	0.81541	GAG		PASS	0.662	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		18	21	18	21	---	---	---	---
TOP3A	7156	broad.mit.edu	37	17	18178286	18178286	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:18178286C>G	ENST00000321105.5	-	19	3050	c.2836G>C	c.(2836-2838)Gga>Cga	p.G946R	TOP3A_ENST00000542570.1_Missense_Mutation_p.G851R|TOP3A_ENST00000540524.1_Missense_Mutation_p.G476R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	946					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)	p.G946R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GACGGGGCTCCAGAAGTCCCT	0.587																																						uc002gsx.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(2836-2838)GGA>CGA		topoisomerase (DNA) III alpha							52.0	57.0	56.0					17																	18178286		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18178286C>G	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.2836G>C	17.37:g.18178286C>G	ENSP00000321636:p.Gly946Arg					TOP3A_uc010cpz.1_Missense_Mutation_p.G398R|TOP3A_uc010vxr.1_Missense_Mutation_p.G476R|TOP3A_uc002gsw.1_Missense_Mutation_p.G398R|TOP3A_uc010vxs.1_Missense_Mutation_p.G844R	p.G946R	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			19	3065	-			946					A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.2836G>C	CCDS11194.1	.	.	.	.	.	.	.	.	.	.	C	9.393	1.075962	0.20227	.	.	ENSG00000177302	ENST00000321105;ENST00000540524;ENST00000542570	T;T;T	0.12569	2.98;2.67;2.99	5.07	3.09	0.35607	.	0.880778	0.10145	N	0.710309	T	0.08935	0.0221	N	0.25647	0.755	0.09310	N	1	B;B	0.12013	0.005;0.004	B;B	0.09377	0.004;0.003	T	0.42258	-0.9462	10	0.14656	T	0.56	-5.5797	6.7688	0.23583	0.0:0.5894:0.259:0.1516	.	851;946	B4DK80;Q13472	.;TOP3A_HUMAN	R	946;476;851	ENSP00000321636:G946R;ENSP00000446425:G476R;ENSP00000442336:G851R	ENSP00000321636:G946R	G	-	1	0	TOP3A	18119011	0.000000	0.05858	0.118000	0.21660	0.165000	0.22458	-0.380000	0.07427	0.735000	0.32537	0.549000	0.68633	GGA		PASS	0.587	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2			50	67	50	67	---	---	---	---
FNDC8	54752	broad.mit.edu	37	17	33456482	33456482	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:33456482C>T	ENST00000158009.5	+	3	742	c.627C>T	c.(625-627)ttC>ttT	p.F209F	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	209	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)		p.F209F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CGGTCAGTTTCTACCAGCTCC	0.537																																						uc002hix.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(625-627)TTC>TTT		fibronectin type III domain containing 8							90.0	90.0	90.0					17																	33456482		2203	4300	6503	SO:0001819	synonymous_variant	54752							g.chr17:33456482C>T	BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.627C>T	17.37:g.33456482C>T							p.F209F	NM_017559	NP_060029	Q8TC99	FNDC8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)	3	709	+		Ovarian(249;0.17)	209			Fibronectin type-III.		B2R9G6|Q9UFC2	Silent	SNP	ENST00000158009.5	37	c.627C>T	CCDS11290.1																																																																																				PASS	0.537	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559		39	55	39	55	---	---	---	---
TAF15	8148	broad.mit.edu	37	17	34171708	34171708	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:34171708G>C	ENST00000588240.1	+	15	1520	c.1405G>C	c.(1405-1407)Ggc>Cgc	p.G469R	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.G466R	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|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)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G469R(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggacagaggaggcggctatgg	0.627			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	uc002hkd.2				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	TEC|CHN1|ZNF384		extraskeletal myxoid chondrosarcomas|ALL	TAF15/NR4A3(33)	1	Substitution - Missense(1)		lung(1)	bone(33)|lung(1)|skin(1)	35						c.(1405-1407)GGC>CGC		TBP-associated factor 15 isoform 1							35.0	35.0	35.0					17																	34171708		2202	4300	6502	SO:0001583	missense	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171708G>C	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1405G>C	17.37:g.34171708G>C	ENSP00000466950:p.Gly469Arg					TAF15_uc002hkc.2_Missense_Mutation_p.G466R	p.G469R	NM_139215	NP_631961	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1491	+		Ovarian(249;0.17)	469			Arg/Gly-rich.|21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|8.		D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	ENST00000588240.1	37	c.1405G>C	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113439	0.37339	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	D	0.94232	-3.38	4.96	1.83	0.25207	.	.	.	.	.	D	0.85195	0.5641	N	0.22421	0.69	0.20873	N	0.99984	B;P	0.36837	0.435;0.571	B;B	0.36464	0.112;0.225	T	0.78023	-0.2366	9	0.87932	D	0	-0.5279	1.3335	0.02140	0.1919:0.1748:0.4531:0.1803	.	469;466	Q92804;Q92804-2	RBP56_HUMAN;.	R	469;272	ENSP00000309558:G469R	ENSP00000309558:G469R	G	+	1	0	TAF15	31195821	0.993000	0.37304	0.146000	0.22360	0.915000	0.54546	1.990000	0.40717	0.494000	0.27859	0.491000	0.48974	GGC		PASS	0.627	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		3	9	3	9	---	---	---	---
SRCIN1	80725	broad.mit.edu	37	17	36714569	36714569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:36714569C>A	ENST00000264659.7	-	11	2319	c.2095G>T	c.(2095-2097)Gag>Tag	p.E699*	SRCIN1_ENST00000578925.1_Nonsense_Mutation_p.E733*|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	571					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)	p.E699*(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CGCGCCGCCTCCGACACGCGC	0.682											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002hqd.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2095-2097)GAG>TAG		SNAP25-interacting protein							23.0	27.0	26.0					17																	36714569		2103	4228	6331	SO:0001587	stop_gained	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36714569C>A		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2095G>T	17.37:g.36714569C>A	ENSP00000264659:p.Glu699*		OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	865	SRCIN1_uc002hqf.1_Nonsense_Mutation_p.E571*|SRCIN1_uc002hqe.2_Nonsense_Mutation_p.E553*|SRCIN1_uc002hqg.2_Nonsense_Mutation_p.E5*	p.E699*	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN			11	2320	-			571					Q75T46|Q8N4W8	Nonsense_Mutation	SNP	ENST00000264659.7	37	c.2095G>T	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	43	10.298747	0.99378	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	.	.	.	4.9	4.9	0.64082	.	0.055434	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-22.6309	16.865	0.86027	0.0:1.0:0.0:0.0	.	.	.	.	X	699;480;553	.	ENSP00000264659:E699X	E	-	1	0	SRCIN1	33968095	1.000000	0.71417	0.997000	0.53966	0.962000	0.63368	7.349000	0.79376	2.273000	0.75805	0.455000	0.32223	GAG		PASS	0.682	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		18	18	18	18	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45235617	45235617	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:45235617A>C	ENST00000066544.3	-	5	523	c.430T>G	c.(430-432)Tta>Gta	p.L144V	CDC27_ENST00000527547.1_Missense_Mutation_p.L144V|CDC27_ENST00000531206.1_Missense_Mutation_p.L144V|RP5-867C24.4_ENST00000574021.1_RNA|CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.L83V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	144					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|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 K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.L144V(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGGATTTAAACTAAGGCTC	0.433																																						uc002ild.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|breast(2)|ovary(1)	5						c.(430-432)TTA>GTA		cell division cycle protein 27 isoform 2							53.0	54.0	54.0					17																	45235617		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45235617A>C	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.430T>G	17.37:g.45235617A>C	ENSP00000066544:p.Leu144Val					CDC27_uc002ile.3_Missense_Mutation_p.L144V|CDC27_uc002ilf.3_Missense_Mutation_p.L144V|CDC27_uc010wkp.1_Missense_Mutation_p.L83V|CDC27_uc010wkq.1_RNA	p.L144V	NM_001256	NP_001247	P30260	CDC27_HUMAN			5	557	-			144			TPR 2.		G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.430T>G	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423597	0.62733	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;D	0.92911	-0.69;-0.69;-0.69;-0.69;-3.13	5.65	4.58	0.56647	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.169542	0.40222	N	0.001154	D	0.91566	0.7336	M	0.61703	1.905	0.40678	D	0.982279	P;P;P;P	0.44521	0.698;0.57;0.837;0.747	B;B;B;P	0.48334	0.393;0.313;0.392;0.574	D	0.91755	0.5415	10	0.59425	D	0.04	-24.0711	9.1235	0.36801	0.9146:0.0:0.0854:0.0	.	83;144;144;144	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	V	144;144;83;144;144	ENSP00000066544:L144V;ENSP00000434614:L144V;ENSP00000392802:L83V;ENSP00000437339:L144V;ENSP00000432105:L144V	ENSP00000066544:L144V	L	-	1	2	CDC27	42590616	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	3.340000	0.52143	2.154000	0.67381	0.477000	0.44152	TTA		PASS	0.433	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			12	35	12	35	---	---	---	---
NPEPPS	9520	broad.mit.edu	37	17	45668243	45668243	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:45668243T>C	ENST00000322157.4	+	10	1493	c.1256T>C	c.(1255-1257)aTt>aCt	p.I419T	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.I415T|NPEPPS_ENST00000544660.1_Missense_Mutation_p.I339T	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	419					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I419T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AGCCATCCTATTGAAGTGAGC	0.398																																						uc002ilr.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1255-1257)ATT>ACT		aminopeptidase puromycin sensitive							189.0	123.0	144.0					17																	45668243		1917	4116	6033	SO:0001583	missense	9520				proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr17:45668243T>C	Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1256T>C	17.37:g.45668243T>C	ENSP00000320324:p.Ile419Thr					NPEPPS_uc010wkt.1_Missense_Mutation_p.I415T|NPEPPS_uc010wku.1_Missense_Mutation_p.I383T|NPEPPS_uc010wkv.1_5'UTR	p.I419T	NM_006310	NP_006301	P55786	PSA_HUMAN			10	1479	+			419					B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	ENST00000322157.4	37	c.1256T>C	CCDS45721.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.583761	0.86748	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.03663	3.85;3.85;3.85;3.85;3.85	5.58	5.58	0.84498	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.28928	0.0718	H	0.95402	3.665	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.42327	-0.9458	10	0.87932	D	0	.	15.7343	0.77831	0.0:0.0:0.0:1.0	.	419;415;419	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	T	415;419;406;339;102;116	ENSP00000433287:I415T;ENSP00000320324:I419T;ENSP00000442461:I339T;ENSP00000435639:I102T;ENSP00000435966:I116T	ENSP00000320324:I419T	I	+	2	0	NPEPPS	43023242	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.918000	0.87506	2.118000	0.64928	0.482000	0.46254	ATT		PASS	0.398	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384269.1	NM_006310		16	159	16	159	---	---	---	---
NGFR	4804	broad.mit.edu	37	17	47587857	47587857	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:47587857C>A	ENST00000172229.3	+	4	777	c.652C>A	c.(652-654)Cct>Act	p.P218T	NGFR_ENST00000504201.1_Missense_Mutation_p.P124T|RP5-1029K10.2_ENST00000514506.1_RNA	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	218	Ser/Thr-rich.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.P218T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GCCTGAGGCACCTCCAGAACA	0.642																																						uc002ioz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(652-654)CCT>ACT		nerve growth factor receptor precursor							80.0	77.0	78.0					17																	47587857		2203	4300	6503	SO:0001583	missense	4804				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm		g.chr17:47587857C>A	M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.652C>A	17.37:g.47587857C>A	ENSP00000172229:p.Pro218Thr						p.P218T	NM_002507	NP_002498	P08138	TNR16_HUMAN			4	777	+	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)		218			Ser/Thr-rich.|Extracellular (Potential).		B2R961|B4E096	Missense_Mutation	SNP	ENST00000172229.3	37	c.652C>A	CCDS11549.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.549838	0.27652	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	D;D	0.90504	-2.61;-2.68	4.85	4.85	0.62838	.	0.726536	0.13034	N	0.419082	T	0.79981	0.4540	N	0.08118	0	0.32319	N	0.562635	B	0.15473	0.013	B	0.11329	0.006	T	0.74169	-0.3752	10	0.13853	T	0.58	-8.9866	12.3965	0.55389	0.1678:0.8322:0.0:0.0	.	218	P08138	TNR16_HUMAN	T	218;124	ENSP00000172229:P218T;ENSP00000421731:P124T	ENSP00000172229:P218T	P	+	1	0	NGFR	44942856	0.809000	0.29036	0.925000	0.36789	0.318000	0.28184	2.041000	0.41213	2.397000	0.81536	0.650000	0.86243	CCT		PASS	0.642	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365150.1			4	108	4	108	---	---	---	---
DLX3	1747	broad.mit.edu	37	17	48069069	48069069	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:48069069G>T	ENST00000434704.2	-	3	901	c.676C>A	c.(676-678)Cct>Act	p.P226T	DLX3_ENST00000512495.2_Missense_Mutation_p.P106T	NM_005220.2	NP_005211.1	O60479	DLX3_HUMAN	distal-less homeobox 3	226					blood vessel development (GO:0001568)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|placenta development (GO:0001890)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P226T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTGCGGGCAGGGGCCGGAGTG	0.642																																						uc002ipy.2																			1	Substitution - Missense(1)		lung(1)		0						c.(676-678)CCT>ACT		distal-less homeobox 3							67.0	72.0	70.0					17																	48069069		2203	4300	6503	SO:0001583	missense	1747					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:48069069G>T		CCDS11556.1	17q21.33	2011-06-20	2005-12-22			ENSG00000064195		"""Homeoboxes / ANTP class : NKL subclass"""	2916	protein-coding gene	gene with protein product		600525	"""distal-less homeo box 3"""			7613049	Standard	NM_005220		Approved		uc002ipy.3	O60479		ENST00000434704.2:c.676C>A	17.37:g.48069069G>T	ENSP00000389870:p.Pro226Thr						p.P226T	NM_005220	NP_005211	O60479	DLX3_HUMAN			3	902	-			226					B3KQL6	Missense_Mutation	SNP	ENST00000434704.2	37	c.676C>A	CCDS11556.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.918723	0.33908	.	.	ENSG00000064195	ENST00000434704;ENST00000512495	D;D	0.92595	-3.07;-3.07	5.01	2.85	0.33270	.	0.387153	0.27164	N	0.020630	T	0.81730	0.4884	N	0.12182	0.205	0.39750	D	0.971871	B	0.06786	0.001	B	0.01281	0.0	T	0.74481	-0.3651	10	0.26408	T	0.33	-10.1238	9.2582	0.37597	0.0:0.1586:0.6776:0.1638	.	226	O60479	DLX3_HUMAN	T	226;106	ENSP00000389870:P226T;ENSP00000449976:P106T	ENSP00000389870:P226T	P	-	1	0	DLX3	45424068	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.395000	0.34520	1.109000	0.41680	0.556000	0.70494	CCT		PASS	0.642	DLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366307.1			15	24	15	24	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48649240	48649240	+	Splice_Site	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:48649240C>A	ENST00000359106.5	+	5	588	c.588C>A	c.(586-588)agC>agA	p.S196R	CACNA1G_ENST00000515411.1_Splice_Site_p.S196R|CACNA1G_ENST00000507510.2_Splice_Site_p.S196R|CACNA1G_ENST00000507609.1_Splice_Site_p.S196R|CACNA1G_ENST00000514717.1_Splice_Site_p.S196R|CACNA1G_ENST00000354983.4_Splice_Site_p.S196R|CACNA1G_ENST00000503485.1_Splice_Site_p.S196R|CACNA1G_ENST00000429973.2_Splice_Site_p.S196R|CACNA1G_ENST00000513689.2_Splice_Site_p.S196R|CACNA1G_ENST00000515765.1_Splice_Site_p.S196R|CACNA1G_ENST00000505165.1_Splice_Site_p.S196R|CACNA1G_ENST00000360761.4_Splice_Site_p.S196R|CACNA1G_ENST00000510115.1_Splice_Site_p.S196R|CACNA1G_ENST00000507896.1_Splice_Site_p.S196R|CACNA1G_ENST00000358244.5_Splice_Site_p.S196R|CACNA1G_ENST00000352832.5_Splice_Site_p.S196R|CACNA1G_ENST00000416767.4_Splice_Site_p.S196R|CACNA1G_ENST00000510366.1_Splice_Site_p.S196R|CACNA1G_ENST00000502264.1_Splice_Site_p.S196R|CACNA1G_ENST00000442258.2_Splice_Site_p.S196R|CACNA1G_ENST00000507336.1_Splice_Site_p.S196R|CACNA1G_ENST00000514181.1_Splice_Site_p.S196R|CACNA1G_ENST00000514079.1_Splice_Site_p.S196R|CACNA1G_ENST00000512389.1_Splice_Site_p.S196R|CACNA1G_ENST00000513964.1_Splice_Site_p.S196R|CACNA1G_ENST00000515165.1_Splice_Site_p.S196R	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	196					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.S196R(4)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCCCACAGGCATGCGCATCC	0.662																																						uc002irk.1																			4	Substitution - Missense(4)		lung(4)	breast(1)	1						c.(586-588)AGC>AGA		voltage-dependent calcium channel alpha 1G	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						73.0	74.0	74.0					17																	48649240		2133	4246	6379	SO:0001630	splice_region_variant	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48649240C>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.587-1C>A	17.37:g.48649240C>A						CACNA1G_uc002iri.1_Missense_Mutation_p.S196R|CACNA1G_uc002irj.1_Missense_Mutation_p.S196R|CACNA1G_uc002irl.1_Missense_Mutation_p.S196R|CACNA1G_uc002irm.1_Missense_Mutation_p.S196R|CACNA1G_uc002irn.1_Missense_Mutation_p.S196R|CACNA1G_uc002iro.1_Missense_Mutation_p.S196R|CACNA1G_uc002irp.1_Missense_Mutation_p.S196R|CACNA1G_uc002irq.1_Missense_Mutation_p.S196R|CACNA1G_uc002irr.1_Missense_Mutation_p.S196R|CACNA1G_uc002irs.1_Missense_Mutation_p.S196R|CACNA1G_uc002irt.1_Missense_Mutation_p.S196R|CACNA1G_uc002irv.1_Missense_Mutation_p.S196R|CACNA1G_uc002irw.1_Missense_Mutation_p.S196R|CACNA1G_uc002iru.1_Missense_Mutation_p.S196R|CACNA1G_uc002irx.1_Missense_Mutation_p.S109R|CACNA1G_uc002iry.1_Missense_Mutation_p.S109R|CACNA1G_uc002irz.1_Missense_Mutation_p.S109R|CACNA1G_uc002isa.1_Missense_Mutation_p.S109R|CACNA1G_uc002isb.1_Missense_Mutation_p.S109R|CACNA1G_uc002isc.1_Missense_Mutation_p.S109R|CACNA1G_uc002isd.1_Missense_Mutation_p.S109R|CACNA1G_uc002ise.1_Missense_Mutation_p.S109R|CACNA1G_uc002isf.1_Missense_Mutation_p.S109R|CACNA1G_uc002isg.1_Missense_Mutation_p.S109R|CACNA1G_uc002ish.1_Missense_Mutation_p.S109R|CACNA1G_uc002isi.1_Missense_Mutation_p.S109R	p.S196R	NM_018896	NP_061496	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		5	960	+	Breast(11;6.7e-17)		196			I.|Cytoplasmic (Potential).		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.588C>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.944956	0.73672	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	4.45	3.48	0.39840	Ion transport (1);	0.173013	0.64402	D	0.000007	D	0.98131	0.9383	M	0.71920	2.185	0.58432	D	0.99999	D;D;P;D;D;P;D;D;D;P;D;D;D;D;D;P;D;D;D;D;D;D;P;P;D;D	0.89917	0.999;0.967;0.884;0.998;0.999;0.739;0.999;0.999;0.999;0.885;0.999;1.0;0.988;0.999;0.999;0.887;0.999;1.0;1.0;0.994;0.998;1.0;0.782;0.77;0.999;0.998	D;P;P;D;D;P;D;D;D;P;D;D;P;D;D;P;D;D;D;D;D;D;P;P;D;D	0.87578	0.995;0.838;0.739;0.998;0.993;0.504;0.997;0.993;0.981;0.733;0.991;0.994;0.893;0.986;0.997;0.775;0.972;0.998;0.996;0.934;0.993;0.996;0.806;0.566;0.997;0.953	D	0.97232	0.9885	10	0.72032	D	0.01	.	4.1164	0.10083	0.0:0.6795:0.0:0.3204	.	196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196;196	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	R	196	ENSP00000353990:S196R;ENSP00000339302:S196R;ENSP00000392390:S196R;ENSP00000347078:S196R;ENSP00000409759:S196R;ENSP00000425522:S196R;ENSP00000426261:S196R;ENSP00000425451:S196R;ENSP00000422407:S196R;ENSP00000426814:S196R;ENSP00000427238:S196R;ENSP00000423112:S196R;ENSP00000420918:S196R;ENSP00000426172:S196R;ENSP00000423045:S196R;ENSP00000427173:S196R;ENSP00000426098:S196R;ENSP00000425698:S196R;ENSP00000426232:S196R;ENSP00000423317:S196R;ENSP00000350979:S196R;ENSP00000352011:S196R;ENSP00000414388:S196R;ENSP00000423155:S196R;ENSP00000422268:S196R;ENSP00000421518:S196R	ENSP00000339302:S196R	S	+	3	2	CACNA1G	46004239	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.400000	0.44504	2.464000	0.83262	0.505000	0.49811	AGC		PASS	0.662	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	Missense_Mutation	14	48	14	48	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48917537	48917537	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:48917537G>A	ENST00000311378.4	+	2	1416	c.888G>A	c.(886-888)ctG>ctA	p.L296L	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Silent_p.L203L	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	296	Ig-like C2-type.				muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.L296L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTGGGGTCCTGAGGGCTGATT	0.637																																						uc002isv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(886-888)CTG>CTA		WFIKKN2 protein							67.0	56.0	60.0					17																	48917537		2203	4300	6503	SO:0001819	synonymous_variant	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917537G>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.888G>A	17.37:g.48917537G>A						WFIKKN2_uc010dbu.2_Silent_p.L203L	p.L296L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1582	+			296			Ig-like C2-type.		Q6UXZ9	Silent	SNP	ENST00000311378.4	37	c.888G>A	CCDS11575.1																																																																																				PASS	0.637	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		8	51	8	51	---	---	---	---
OR4D2	124538	broad.mit.edu	37	17	56247867	56247867	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:56247867C>T	ENST00000545221.1	+	1	851	c.851C>T	c.(850-852)cCc>cTc	p.P284L		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ATGCTCAACCCCATGATCTAT	0.517																																						uc010wnp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(850-852)CCC>CTC		olfactory receptor, family 4, subfamily D,							120.0	114.0	116.0					17																	56247867		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247867C>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.851C>T	17.37:g.56247867C>T	ENSP00000441354:p.Pro284Leu						p.P284L	NM_001004707	NP_001004707	P58180	OR4D2_HUMAN			1	851	+			284			Helical; Name=7; (Potential).		Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.851C>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118944	0.77323	.	.	ENSG00000255713	ENST00000545221	T	0.63417	-0.04	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000045	D	0.85279	0.5660	H	0.94620	3.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88623	0.3164	10	0.87932	D	0	-50.8818	17.7075	0.88312	0.0:1.0:0.0:0.0	.	284	P58180	OR4D2_HUMAN	L	284	ENSP00000441354:P284L	ENSP00000441354:P284L	P	+	2	0	OR4D2	53602866	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	7.572000	0.82409	2.860000	0.98153	0.609000	0.83330	CCC		PASS	0.517	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			29	143	29	143	---	---	---	---
LPO	4025	broad.mit.edu	37	17	56343621	56343621	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:56343621C>G	ENST00000262290.4	+	11	1943	c.1627C>G	c.(1627-1629)Cac>Gac	p.H543D	LPO_ENST00000543544.1_Missense_Mutation_p.H484D|LPO_ENST00000582328.1_Missense_Mutation_p.H460D|LPO_ENST00000421678.2_Missense_Mutation_p.H460D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	543					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)	p.H543D(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCAGCCAACTCACAGGATCCA	0.542																																						uc002ivt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1627-1629)CAC>GAC		lactoperoxidase isoform 1 preproprotein							63.0	55.0	58.0					17																	56343621		2203	4300	6503	SO:0001583	missense	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56343621C>G	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1627C>G	17.37:g.56343621C>G	ENSP00000262290:p.His543Asp					LPO_uc010wns.1_Missense_Mutation_p.H484D|LPO_uc010dcp.2_Missense_Mutation_p.H460D|LPO_uc010dcq.2_Missense_Mutation_p.H214D|LPO_uc010dcr.2_Missense_Mutation_p.H106D	p.H543D	NM_006151	NP_006142	P22079	PERL_HUMAN			11	1943	+			543					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.1627C>G	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	5.744	0.321785	0.10845	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544;ENST00000389576	T;T;T	0.71222	-0.55;-0.55;-0.55	5.82	3.85	0.44370	.	0.322736	0.38381	N	0.001701	T	0.62429	0.2427	L	0.60067	1.865	0.09310	N	1	B;B	0.21071	0.0;0.051	B;B	0.35470	0.001;0.203	T	0.49093	-0.8975	10	0.13853	T	0.58	-24.9459	2.1542	0.03808	0.1374:0.5109:0.1328:0.2189	.	460;543	E7EMJ3;P22079	.;PERL_HUMAN	D	543;460;484;288	ENSP00000262290:H543D;ENSP00000400245:H460D;ENSP00000445344:H484D	ENSP00000262290:H543D	H	+	1	0	LPO	53698620	0.000000	0.05858	0.070000	0.20053	0.791000	0.44710	0.442000	0.21628	0.820000	0.34516	0.655000	0.94253	CAC		PASS	0.542	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			13	51	13	51	---	---	---	---
CLTC	1213	broad.mit.edu	37	17	57733350	57733350	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:57733350G>T	ENST00000269122.3	+	6	1205	c.931G>T	c.(931-933)Gcc>Tcc	p.A311S	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.A311S	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	311	Globular terminal domain.|WD40-like repeat 7.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)	p.A311S(1)	CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACCTCATGAAGCCACAGCTGG	0.378			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1				Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(931-933)GCC>TCC		clathrin heavy chain 1							115.0	114.0	115.0					17																	57733350		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57733350G>T	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.931G>T	17.37:g.57733350G>T	ENSP00000269122:p.Ala311Ser					CLTC_uc002ixp.2_Missense_Mutation_p.A311S|CLTC_uc002ixr.1_Missense_Mutation_p.A315S	p.A311S	NM_004859	NP_004850	Q00610	CLH1_HUMAN			6	1374	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		311			Globular terminal domain.		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.931G>T	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	G	7.992	0.753517	0.15778	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.20738	2.05;2.05	5.73	5.73	0.89815	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.049421	0.85682	D	0.000000	T	0.12475	0.0303	N	0.10972	0.075	0.80722	D	1	B;B	0.18968	0.032;0.0	B;B	0.20767	0.031;0.003	T	0.09422	-1.0675	10	0.02654	T	1	.	19.9019	0.96988	0.0:0.0:1.0:0.0	.	311;311	Q00610;Q00610-2	CLH1_HUMAN;.	S	311	ENSP00000269122:A311S;ENSP00000376763:A311S	ENSP00000269122:A311S	A	+	1	0	CLTC	55088132	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.795000	0.62489	2.698000	0.92095	0.591000	0.81541	GCC		PASS	0.378	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1	NM_004859		25	96	25	96	---	---	---	---
GNA13	10672	broad.mit.edu	37	17	63010558	63010558	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:63010558G>A	ENST00000439174.2	-	4	1196	c.951C>T	c.(949-951)caC>caT	p.H317H	GNA13_ENST00000541118.1_Silent_p.H222H	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	317					activation of phospholipase D activity (GO:0031584)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|in utero embryonic development (GO:0001701)|patterning of blood vessels (GO:0001569)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell migration (GO:0030334)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	D5 dopamine receptor binding (GO:0031752)|G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 1 angiotensin receptor binding (GO:0031702)	p.H317H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CTCTTAAGCAGTGGGGATCCC	0.448																																						uc002jfc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(949-951)CAC>CAT		guanine nucleotide binding protein (G protein),							101.0	97.0	98.0					17																	63010558		2203	4300	6503	SO:0001819	synonymous_variant	10672				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding	g.chr17:63010558G>A	L22075	CCDS11661.1, CCDS62302.1	17q24.1	2014-09-04			ENSG00000120063	ENSG00000120063			4381	protein-coding gene	gene with protein product		604406				7791744	Standard	NM_006572		Approved	G13, MGC46138	uc002jfc.3	Q14344	OTTHUMG00000179316	ENST00000439174.2:c.951C>T	17.37:g.63010558G>A						GNA13_uc010wqh.1_Silent_p.H222H	p.H317H	NM_006572	NP_006563	Q14344	GNA13_HUMAN			4	1160	-			317					B2R977|B7Z7R0|F5H1G8|Q8TD70	Silent	SNP	ENST00000439174.2	37	c.951C>T	CCDS11661.1																																																																																				PASS	0.448	GNA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445720.1	NM_006572		42	64	42	64	---	---	---	---
AMZ2	51321	broad.mit.edu	37	17	66251840	66251840	+	Splice_Site	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:66251840G>T	ENST00000359904.3	+	6	1882		c.e6-1		AMZ2_ENST00000577866.1_Splice_Site|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000577985.1_Splice_Site|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577273.1_Intron	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.?(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTGTCTTGCAGACTTTAACCC	0.468																																						uc002jgs.1																			2	Unknown(2)		lung(2)		0						c.e7-1		archaemetzincins-2 isoform 1							118.0	105.0	109.0					17																	66251840		2203	4300	6503	SO:0001630	splice_region_variant	51321						metallopeptidase activity|zinc ion binding	g.chr17:66251840G>T	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.751-1G>T	17.37:g.66251840G>T						AMZ2_uc002jgr.1_Splice_Site_p.T251_splice|AMZ2_uc002jgt.1_Splice_Site_p.T251_splice|AMZ2_uc002jgu.1_Splice_Site_p.T251_splice|AMZ2_uc002jgv.1_Splice_Site_p.T251_splice|AMZ2_uc002jgw.1_Splice_Site_p.T193_splice|AMZ2_uc002jgy.1_Splice_Site_p.T251_splice	p.T251_splice	NM_001033572	NP_001028744	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		7	868	+	all_cancers(12;1.12e-09)							A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Splice_Site	SNP	ENST00000359904.3	37	c.751_splice	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880776	0.72294	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3072	0.82854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AMZ2	63763435	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.978000	0.63799	2.635000	0.89317	0.563000	0.77884	.		PASS	0.468	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627	Intron	58	95	58	95	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66928541	66928541	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr17:66928541A>T	ENST00000269080.2	-	6	822	c.685T>A	c.(685-687)Tgc>Agc	p.C229S	ABCA8_ENST00000586539.1_Missense_Mutation_p.C229S|ABCA8_ENST00000430352.2_Missense_Mutation_p.C229S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	229					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.C229S(1)		breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAATAATGCAGGAAAAAAGG	0.383																																						uc002jhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(685-687)TGC>AGC		ATP-binding cassette, sub-family A member 8							103.0	96.0	98.0					17																	66928541		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66928541A>T	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.685T>A	17.37:g.66928541A>T	ENSP00000269080:p.Cys229Ser					ABCA8_uc002jhq.2_Missense_Mutation_p.C229S|ABCA8_uc010wqq.1_Missense_Mutation_p.C229S|ABCA8_uc010wqr.1_Missense_Mutation_p.C168S|ABCA8_uc002jhr.2_Missense_Mutation_p.C229S|ABCA8_uc002jhs.2_Missense_Mutation_p.C229S|ABCA8_uc002jht.2_Missense_Mutation_p.C229S	p.C229S	NM_007168	NP_009099	O94911	ABCA8_HUMAN			6	864	-	Breast(10;4.56e-13)		229			Helical; (Potential).		A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.685T>A	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	10.27	1.303809	0.23736	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000428549	D;D	0.86865	-2.18;-2.18	4.86	4.86	0.63082	.	0.245684	0.29403	N	0.012249	D	0.85617	0.5738	M	0.64404	1.975	0.27603	N	0.948897	B;P;B;B;B	0.36438	0.167;0.553;0.201;0.182;0.368	B;B;B;B;B	0.40782	0.126;0.34;0.14;0.086;0.14	T	0.78934	-0.2008	10	0.31617	T	0.26	.	11.0066	0.47637	1.0:0.0:0.0:0.0	.	168;229;229;229;229	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	S	229;229;168;229	ENSP00000269080:C229S;ENSP00000402814:C229S	ENSP00000269080:C229S	C	-	1	0	ABCA8	64440136	0.001000	0.12720	0.153000	0.22517	0.005000	0.04900	1.314000	0.33597	2.168000	0.68352	0.460000	0.39030	TGC		PASS	0.383	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		14	79	14	79	---	---	---	---
CETN1	1068	broad.mit.edu	37	18	580553	580553	+	Missense_Mutation	SNP	G	G	T	rs116290875		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr18:580553G>T	ENST00000327228.3	+	1	187	c.145G>T	c.(145-147)Gac>Tac	p.D49Y		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	49	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)	p.D49Y(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGGGACCATCGACGCGAAGGA	0.557																																						uc002kko.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(145-147)GAC>TAC		centrin 1							83.0	63.0	70.0					18																	580553		2203	4300	6503	SO:0001583	missense	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580553G>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.145G>T	18.37:g.580553G>T	ENSP00000319052:p.Asp49Tyr						p.D49Y	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	187	+			49			1 (Probable).|EF-hand 1.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.145G>T	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502097	0.64298	.	.	ENSG00000177143	ENST00000327228	T	0.75704	-0.96	5.2	5.2	0.72013	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.90181	0.6931	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.92476	0.5989	10	0.87932	D	0	.	16.6478	0.85181	0.0:0.0:1.0:0.0	.	49	Q12798	CETN1_HUMAN	Y	49	ENSP00000319052:D49Y	ENSP00000319052:D49Y	D	+	1	0	CETN1	570553	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	4.663000	0.61532	2.882000	0.98803	0.655000	0.94253	GAC		PASS	0.557	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		9	46	9	46	---	---	---	---
YES1	7525	broad.mit.edu	37	18	724498	724498	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr18:724498C>T	ENST00000584307.1	-	12	1728	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	YES1_ENST00000314574.4_Missense_Mutation_p.E520K|YES1_ENST00000577961.1_Missense_Mutation_p.E525K			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	520	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E520K(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGAATATATTCAAATGTTGGT	0.438																																						uc002kky.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1558-1560)GAA>AAA		viral oncogene yes-1 homolog 1	Dasatinib(DB01254)						85.0	83.0	84.0					18																	724498		2203	4300	6503	SO:0001583	missense	7525				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity	g.chr18:724498C>T	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1558G>A	18.37:g.724498C>T	ENSP00000462468:p.Glu520Lys					YES1_uc002kkz.2_Missense_Mutation_p.E520K	p.E520K	NM_005433	NP_005424	P07947	YES_HUMAN			12	1779	-			520			Protein kinase.		A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	37	c.1558G>A	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.837357	0.91117	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.82081	-1.57	4.81	4.81	0.61882	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	N	0.10629	0.01	0.80722	D	1	P	0.39847	0.691	B	0.41332	0.354	T	0.79415	-0.1813	10	0.72032	D	0.01	.	18.2307	0.89934	0.0:1.0:0.0:0.0	.	520	P07947	YES_HUMAN	K	520	ENSP00000324740:E520K	ENSP00000324740:E520K	E	-	1	0	YES1	714498	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.544000	0.82117	2.380000	0.81148	0.591000	0.81541	GAA		PASS	0.438	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433		13	86	13	86	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21478918	21478918	+	Splice_Site	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr18:21478918G>T	ENST00000313654.9	+	46	5966	c.5725G>T	c.(5725-5727)Gct>Tct	p.A1909S	LAMA3_ENST00000399516.3_Splice_Site_p.A1909S|LAMA3_ENST00000269217.6_Splice_Site_p.A300S|LAMA3_ENST00000587184.1_Splice_Site_p.A300S|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1909	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.A300S(1)|p.A1909S(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TTTCATATAGGCTCAAGTAAA	0.313																																						uc002kuq.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(5725-5727)GCT>TCT		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						53.0	51.0	52.0					18																	21478918		2203	4300	6503	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21478918G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.5725-1G>T	18.37:g.21478918G>T						LAMA3_uc002kur.2_Missense_Mutation_p.A1909S|LAMA3_uc002kus.3_Missense_Mutation_p.A300S|LAMA3_uc002kut.3_Missense_Mutation_p.A300S	p.A1909S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			46	5811	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		1909			Domain II and I.|Potential.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.5725G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163143	0.57476	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.78003	2.82;-1.14;2.82	6.08	6.08	0.98989	Laminin I (1);	.	.	.	.	T	0.76572	0.4006	N	0.21448	0.665	0.46874	D	0.999237	B;B;B;P	0.49783	0.028;0.036;0.286;0.928	B;B;B;P	0.53593	0.034;0.047;0.331;0.73	T	0.73553	-0.3946	8	.	.	.	.	17.8194	0.88645	0.0:0.0:1.0:0.0	.	300;300;1909;1909	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	S	1909;1909;300	ENSP00000324532:A1909S;ENSP00000382432:A1909S;ENSP00000269217:A300S	.	A	+	1	0	LAMA3	19732916	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	6.110000	0.71535	2.894000	0.99253	0.655000	0.94253	GCT		PASS	0.313	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129	Missense_Mutation	8	33	8	33	---	---	---	---
NOL4	8715	broad.mit.edu	37	18	31802995	31802995	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr18:31802995C>A	ENST00000261592.5	-	1	520	c.223G>T	c.(223-225)Ggc>Tgc	p.G75C	NOL4_ENST00000590846.1_5'Flank|NOL4_ENST00000538587.1_5'Flank|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.G75C|RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000535475.1_5'Flank	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	75						nucleolus (GO:0005730)	RNA binding (GO:0003723)	p.G75C(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TTGGCGCCGCCGCCTCCCCCG	0.632																																						uc010dmi.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(223-225)GGC>TGC		nucleolar protein 4							38.0	42.0	41.0					18																	31802995		2003	4181	6184	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31802995C>A	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.223G>T	18.37:g.31802995C>A	ENSP00000261592:p.Gly75Cys					NOL4_uc002kxr.3_5'Flank|NOL4_uc010xbt.1_5'Flank|NOL4_uc010dmh.2_5'Flank|NOL4_uc010xbu.1_Missense_Mutation_p.G75C|NOL4_uc002kxt.3_Missense_Mutation_p.G75C	p.G75C	NM_003787	NP_003778	O94818	NOL4_HUMAN			1	452	-			75					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.223G>T	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	13.55	2.270470	0.40194	.	.	ENSG00000101746	ENST00000261592	D	0.84660	-1.88	5.72	5.72	0.89469	.	.	.	.	.	T	0.81800	0.4899	L	0.34521	1.04	0.80722	D	1	B;P	0.48407	0.248;0.91	B;P	0.44447	0.349;0.45	D	0.83777	0.0223	9	0.59425	D	0.04	-8.2383	16.5937	0.84789	0.0:1.0:0.0:0.0	.	75;75	O94818;O94818-2	NOL4_HUMAN;.	C	75	ENSP00000261592:G75C	ENSP00000261592:G75C	G	-	1	0	NOL4	30056993	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	1.443000	0.35057	2.701000	0.92244	0.561000	0.74099	GGC		PASS	0.632	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		37	33	37	33	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54398666	54398666	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr18:54398666T>C	ENST00000254442.3	+	14	2038	c.1827T>C	c.(1825-1827)gcT>gcC	p.A609A	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.A609A	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	609					hematopoietic progenitor cell differentiation (GO:0002244)			p.A609A(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TTCTAAACGCTTGTGATGAAG	0.388																																						uc002lgk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1825-1827)GCT>GCC		rabconnectin-3 beta isoform 1							121.0	103.0	109.0					18																	54398666		2203	4300	6503	SO:0001819	synonymous_variant	23335							g.chr18:54398666T>C	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1827T>C	18.37:g.54398666T>C						WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.A609A	p.A609A	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	14	2038	+			609					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	ENST00000254442.3	37	c.1827T>C	CCDS11962.1																																																																																				PASS	0.388	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			8	47	8	47	---	---	---	---
SERPINB4	6318	broad.mit.edu	37	18	61304959	61304959	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr18:61304959G>T	ENST00000341074.5	-	8	1282	c.1167C>A	c.(1165-1167)tcC>tcA	p.S389S	SERPINB4_ENST00000356424.6_Silent_p.S337S	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	389					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S389S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						GCATCTATGGGGATGAGAATC	0.398																																						uc002ljf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)	3						c.(1165-1167)TCC>TCA		serine (or cysteine) proteinase inhibitor, clade							172.0	167.0	168.0					18																	61304959		2203	4300	6503	SO:0001819	synonymous_variant	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61304959G>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1167C>A	18.37:g.61304959G>T						SERPINB4_uc002lje.2_Silent_p.S368S|SERPINB4_uc002ljg.2_Silent_p.S389S	p.S389S	NM_002974	NP_002965	P48594	SPB4_HUMAN			8	1253	-			389					A8K847	Silent	SNP	ENST00000341074.5	37	c.1167C>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	0.411	-0.913398	0.02415	.	.	ENSG00000206073	ENST00000413673	.	.	.	4.51	-0.451	0.12214	.	.	.	.	.	T	0.44180	0.1281	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	4.2267	0.10584	0.3636:0.0:0.3892:0.2471	.	.	.	.	H	370	.	.	P	-	2	0	SERPINB4	59455939	0.013000	0.17824	0.920000	0.36463	0.081000	0.17604	-0.689000	0.05144	-0.005000	0.14395	-0.861000	0.03010	CCC		PASS	0.398	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041		64	63	64	63	---	---	---	---
DOK6	220164	broad.mit.edu	37	18	67231765	67231765	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr18:67231765A>C	ENST00000382713.5	+	2	299	c.109A>C	c.(109-111)Aaa>Caa	p.K37Q	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	37	PH.							p.K37Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGCTTCTAGCAAAGGACCCAG	0.388																																						uc002lkl.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(109-111)AAA>CAA		docking protein 6							77.0	77.0	77.0					18																	67231765		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67231765A>C	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.109A>C	18.37:g.67231765A>C	ENSP00000372160:p.Lys37Gln						p.K37Q	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			2	299	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	37			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.109A>C	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736581	0.89482	.	.	ENSG00000206052	ENST00000382713	T	0.72282	-0.64	6.16	6.16	0.99307	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.77532	0.4144	L	0.59436	1.845	0.58432	D	0.99999	P	0.44877	0.845	P	0.54965	0.765	T	0.72760	-0.4196	10	0.19147	T	0.46	-9.9517	15.9872	0.80168	1.0:0.0:0.0:0.0	.	37	Q6PKX4	DOK6_HUMAN	Q	37	ENSP00000372160:K37Q	ENSP00000372160:K37Q	K	+	1	0	DOK6	65382745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.888000	0.92464	2.367000	0.80283	0.528000	0.53228	AAA		PASS	0.388	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		25	26	25	26	---	---	---	---
DOK6	220164	broad.mit.edu	37	18	67231767	67231767	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr18:67231767A>T	ENST00000382713.5	+	2	301	c.111A>T	c.(109-111)aaA>aaT	p.K37N	RP11-465I4.2_ENST00000583991.1_RNA	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	37	PH.							p.K37N(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				CTTCTAGCAAAGGACCCAGAA	0.388																																						uc002lkl.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(109-111)AAA>AAT		docking protein 6							77.0	77.0	77.0					18																	67231767		2203	4300	6503	SO:0001583	missense	220164						insulin receptor binding	g.chr18:67231767A>T	AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.111A>T	18.37:g.67231767A>T	ENSP00000372160:p.Lys37Asn						p.K37N	NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN			2	301	+		Colorectal(73;0.083)|Esophageal squamous(42;0.131)	37			PH.		A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	c.111A>T	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	A	18.06	3.538817	0.65085	.	.	ENSG00000206052	ENST00000382713	T	0.71698	-0.59	6.16	2.55	0.30701	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	L	0.59436	1.845	0.48762	D	0.999704	P	0.44877	0.845	P	0.54965	0.765	T	0.65508	-0.6151	10	0.19590	T	0.45	-9.9517	9.0567	0.36410	0.7968:0.0:0.2032:0.0	.	37	Q6PKX4	DOK6_HUMAN	N	37	ENSP00000372160:K37N	ENSP00000372160:K37N	K	+	3	2	DOK6	65382747	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.915000	0.69973	0.215000	0.20761	-0.297000	0.09499	AAA		PASS	0.388	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721		26	27	26	27	---	---	---	---
PRSS57	400668	broad.mit.edu	37	19	694935	694935	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:694935C>G	ENST00000329267.7	-	2	144	c.115G>C	c.(115-117)Gag>Cag	p.E39Q		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	39	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.E39Q(2)		central_nervous_system(1)|lung(5)	6						GGGGTCACCTCGTGGCCCCCG	0.706																																						uc002lpl.1																			2	Substitution - Missense(2)		lung(2)		0						c.(115-117)GAG>CAG		protease, serine-like 1 precursor							12.0	13.0	12.0					19																	694935		2191	4291	6482	SO:0001583	missense	400668				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:694935C>G	AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.115G>C	19.37:g.694935C>G	ENSP00000327386:p.Glu39Gln					PRSSL1_uc010xfs.1_Missense_Mutation_p.E38Q	p.E39Q	NM_214710	NP_999875	Q6UWY2	PRS57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	146	-		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	39			Peptidase S1.		B2RNW8	Missense_Mutation	SNP	ENST00000329267.7	37	c.115G>C	CCDS12041.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.776870	0.70107	.	.	ENSG00000185198	ENST00000329267	D	0.89485	-2.52	5.17	4.12	0.48240	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41194	D	0.000923	D	0.92987	0.7768	M	0.74467	2.265	0.24037	N	0.996099	D;D	0.61697	0.99;0.99	P;D	0.68943	0.896;0.961	D	0.86463	0.1780	10	0.72032	D	0.01	.	11.1604	0.48512	0.0:0.9117:0.0:0.0883	.	38;39	B7ZMF6;Q6UWY2	.;PRS57_HUMAN	Q	39	ENSP00000327386:E39Q	ENSP00000327386:E39Q	E	-	1	0	PRSS57	645935	0.981000	0.34729	0.100000	0.21137	0.138000	0.21146	2.889000	0.48601	1.184000	0.42957	0.485000	0.47835	GAG		PASS	0.706	PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710		11	9	11	9	---	---	---	---
THOP1	7064	broad.mit.edu	37	19	2810340	2810340	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:2810340G>T	ENST00000307741.6	+	10	1697	c.1494G>T	c.(1492-1494)cgG>cgT	p.R498R	THOP1_ENST00000591149.1_3'UTR|THOP1_ENST00000586677.1_Silent_p.R377R|THOP1_ENST00000395212.4_Silent_p.R9R	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	498					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.R498R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGTGGAGCGGGACTTTGTGG	0.692																																						uc002lwj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1492-1494)CGG>CGT		thimet oligopeptidase 1							45.0	47.0	46.0					19																	2810340		2201	4300	6501	SO:0001819	synonymous_variant	7064				proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	g.chr19:2810340G>T		CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1494G>T	19.37:g.2810340G>T						THOP1_uc010xgz.1_Silent_p.R377R|THOP1_uc002lwk.2_Silent_p.R9R	p.R498R	NM_003249	NP_003240	P52888	THOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1649	+			498					B3KSE2|Q9UCB3	Silent	SNP	ENST00000307741.6	37	c.1494G>T	CCDS12095.1																																																																																				PASS	0.692	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451587.2			5	21	5	21	---	---	---	---
PLIN4	729359	broad.mit.edu	37	19	4513257	4513257	+	Missense_Mutation	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:4513257A>G	ENST00000301286.3	-	3	672	c.673T>C	c.(673-675)Tcc>Ccc	p.S225P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	225	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)		p.S153P(1)|p.S225P(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGCCCAGTGGACACAGCATCT	0.577																																						uc002mar.1																			2	Substitution - Missense(2)		lung(2)		0						c.(673-675)TCC>CCC		plasma membrane associated protein, S3-12							136.0	145.0	142.0					19																	4513257		2123	4241	6364	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4513257A>G	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.673T>C	19.37:g.4513257A>G	ENSP00000301286:p.Ser225Pro					PLIN4_uc010dub.1_5'Flank	p.S225P	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN			3	673	-			225			27 X 33 AA approximate tandem repeat.|4.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.673T>C	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.079958	0.55753	.	.	ENSG00000167676	ENST00000301286	T	0.05855	3.38	4.71	1.17	0.20885	.	0.582377	0.15409	N	0.263880	T	0.11324	0.0276	L	0.59436	1.845	0.09310	N	1	D	0.71674	0.998	P	0.56434	0.798	T	0.20874	-1.0262	10	0.26408	T	0.33	-8.3939	4.475	0.11731	0.4724:0.1713:0.0:0.3563	.	225	Q96Q06	PLIN4_HUMAN	P	225	ENSP00000301286:S225P	ENSP00000301286:S225P	S	-	1	0	PLIN4	4464257	0.000000	0.05858	0.057000	0.19452	0.160000	0.22226	-0.531000	0.06171	-0.150000	0.11195	0.418000	0.28097	TCC		PASS	0.577	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		7	246	7	246	---	---	---	---
CD209	30835	broad.mit.edu	37	19	7810768	7810768	+	Silent	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:7810768G>C	ENST00000315599.7	-	4	406	c.384C>G	c.(382-384)acC>acG	p.T128T	CD209_ENST00000601951.1_Silent_p.T104T|CD209_ENST00000394173.4_Intron|CD209_ENST00000354397.6_Silent_p.T128T|CD209_ENST00000593821.1_Silent_p.T84T|CD209_ENST00000301357.8_Silent_p.T84T|CD209_ENST00000602261.1_Silent_p.T128T|CD209_ENST00000204801.8_Silent_p.T84T|CD209_ENST00000601256.1_Silent_p.T104T|CD209_ENST00000315591.8_Silent_p.T104T|CD209_ENST00000593660.1_Silent_p.T104T|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	128	7 X approximate tandem repeats.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|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 T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	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)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)	p.T128T(2)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCAGCCGGGTCAGCTCCT	0.572																																						uc002mht.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(382-384)ACC>ACG		CD209 molecule isoform 1							90.0	92.0	91.0					19																	7810768		2202	4297	6499	SO:0001819	synonymous_variant	30835				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	g.chr19:7810768G>C	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.384C>G	19.37:g.7810768G>C						CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Silent_p.T104T|CD209_uc002mhr.2_Silent_p.T104T|CD209_uc002mhs.2_Silent_p.T104T|CD209_uc002mhu.2_Silent_p.T128T|CD209_uc010dvq.2_Silent_p.T128T|CD209_uc002mhq.2_Silent_p.T128T|CD209_uc002mhv.2_Silent_p.T104T|CD209_uc002mhx.2_Silent_p.T84T|CD209_uc002mhw.2_Silent_p.T84T|CD209_uc010dvr.2_Intron	p.T128T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN			4	451	-			128			Extracellular (Probable).|2.|7 X approximate tandem repeats.		A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Silent	SNP	ENST00000315599.7	37	c.384C>G	CCDS12186.1																																																																																				PASS	0.572	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462241.1	NM_021155		72	153	72	153	---	---	---	---
PRAM1	84106	broad.mit.edu	37	19	8563166	8563166	+	Silent	SNP	C	C	A	rs375790925		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:8563166C>A	ENST00000423345.4	-	3	1960	c.1440G>T	c.(1438-1440)cgG>cgT	p.R480R	PRAM1_ENST00000255612.3_Silent_p.R480R			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	528	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)	p.R480R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGCGGGTCCTCCGTAGATCTG	0.682																																						uc002mkd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1438-1440)CGG>CGT		PML-RARA regulated adaptor molecule 1							20.0	23.0	22.0					19																	8563166		1974	4142	6116	SO:0001819	synonymous_variant	84106						lipid binding|protein binding	g.chr19:8563166C>A	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1440G>T	19.37:g.8563166C>A						PRAM1_uc002mkc.2_Silent_p.R480R	p.R480R	NM_032152	NP_115528	Q96QH2	PRAM_HUMAN			3	1460	-			528					Q8N6W7	Silent	SNP	ENST00000423345.4	37	c.1440G>T	CCDS45954.2																																																																																				PASS	0.682	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397040.3	NM_032152		13	17	13	17	---	---	---	---
OR2Z1	284383	broad.mit.edu	37	19	8841616	8841616	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:8841616G>T	ENST00000324060.2	+	1	301	c.226G>T	c.(226-228)Gtc>Ttc	p.V76F		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V76F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTCCCATGGTCACCATCCC	0.542																																						uc010xkg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(226-228)GTC>TTC		olfactory receptor, family 2, subfamily Z,							129.0	114.0	119.0					19																	8841616		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841616G>T	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.226G>T	19.37:g.8841616G>T	ENSP00000316284:p.Val76Phe						p.V76F	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	226	+			76			Helical; Name=2; (Potential).		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.226G>T	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299169	0.40694	.	.	ENSG00000181733	ENST00000324060	T	0.00558	6.61	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.128195	0.35179	N	0.003383	T	0.00875	0.0029	M	0.72576	2.205	0.20703	N	0.999861	P	0.45044	0.849	P	0.44897	0.463	T	0.45629	-0.9248	10	0.87932	D	0	.	8.6985	0.34312	0.1058:0.0:0.8942:0.0	.	76	Q8NG97	OR2Z1_HUMAN	F	76	ENSP00000316284:V76F	ENSP00000316284:V76F	V	+	1	0	OR2Z1	8702616	0.000000	0.05858	0.970000	0.41538	0.232000	0.25224	-0.409000	0.07160	2.182000	0.69389	0.543000	0.68304	GTC		PASS	0.542	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			44	85	44	85	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9005596	9005596	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:9005596T>C	ENST00000397910.4	-	46	40013	c.39810A>G	c.(39808-39810)ggA>ggG	p.G13270G	MUC16_ENST00000380951.5_5'Flank	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13272	SEA 8. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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.G422G(1)|p.G13270G(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						GGGTGTAGGGTCCCAGCTCAG	0.552																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(39808-39810)GGA>GGG		mucin 16							181.0	163.0	169.0					19																	9005596		2045	4184	6229	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9005596T>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.39810A>G	19.37:g.9005596T>C						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.G87G|MUC16_uc010xki.1_Intron	p.G13270G	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			46	40014	-			13272			SEA 8.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.39810A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	0.047	-1.263457	0.01445	.	.	ENSG00000181143	ENST00000542240	.	.	.	3.51	-7.02	0.01589	.	.	.	.	.	T	0.14527	0.0351	.	.	.	.	.	.	.	.	.	.	.	.	T	0.12372	-1.0550	3	.	.	.	-24.2531	0.6025	0.00747	0.3921:0.1608:0.1371:0.31	.	.	.	.	G	110	.	.	D	-	2	0	MUC16	8866596	0.000000	0.05858	0.005000	0.12908	0.024000	0.10985	-4.253000	0.00265	-2.974000	0.00285	-2.622000	0.00156	GAC		PASS	0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		83	141	83	141	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9056214	9056214	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:9056214G>C	ENST00000397910.4	-	3	31435	c.31232C>G	c.(31231-31233)aCa>aGa	p.T10411R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10413	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.T10411R(1)|p.T6044R(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						ATAAGCACTTGTCACTGTTCC	0.483																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(31231-31233)ACA>AGA		mucin 16							197.0	195.0	196.0					19																	9056214		2011	4176	6187	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056214G>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.31232C>G	19.37:g.9056214G>C	ENSP00000381008:p.Thr10411Arg						p.T10411R	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	31436	-			10413			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.31232C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	10.10	1.257173	0.22965	.	.	ENSG00000181143	ENST00000397910	T	0.02525	4.26	3.94	3.94	0.45596	.	.	.	.	.	T	0.07279	0.0184	N	0.24115	0.695	.	.	.	D	0.89917	1.0	D	0.87578	0.998	T	0.27773	-1.0064	8	0.87932	D	0	.	11.7888	0.52057	0.0:0.0:1.0:0.0	.	10411	B5ME49	.	R	10411	ENSP00000381008:T10411R	ENSP00000381008:T10411R	T	-	2	0	MUC16	8917214	0.068000	0.21057	0.277000	0.24703	0.008000	0.06430	2.119000	0.41958	2.473000	0.83533	0.655000	0.94253	ACA		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		98	208	98	208	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9056609	9056609	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:9056609C>A	ENST00000397910.4	-	3	31040	c.30837G>T	c.(30835-30837)atG>atT	p.M10279I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10281	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.M10279I(1)|p.M5912I(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						ATAGAGAAGGCATCACTGTGC	0.483																																						uc002mkp.2																			2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30835-30837)ATG>ATT		mucin 16							94.0	94.0	94.0					19																	9056609		2039	4188	6227	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056609C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30837G>T	19.37:g.9056609C>A	ENSP00000381008:p.Met10279Ile						p.M10279I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	31041	-			10281			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30837G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	6.484	0.457493	0.12342	.	.	ENSG00000181143	ENST00000397910	T	0.02085	4.46	2.66	-3.74	0.04385	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.06405	0.002	T	0.46735	-0.9170	8	0.87932	D	0	.	4.2527	0.10702	0.0:0.4031:0.2183:0.3785	.	10279	B5ME49	.	I	10279	ENSP00000381008:M10279I	ENSP00000381008:M10279I	M	-	3	0	MUC16	8917609	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-2.202000	0.01235	-0.758000	0.04690	0.461000	0.40582	ATG		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		47	75	47	75	---	---	---	---
OR7G2	390882	broad.mit.edu	37	19	9213749	9213749	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:9213749G>T	ENST00000305456.2	-	1	233	c.234C>A	c.(232-234)acC>acA	p.T78T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T78T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGTACATGGGGGTGTGGAGGT	0.502																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(232-234)ACC>ACA		olfactory receptor, family 7, subfamily G,							128.0	118.0	121.0					19																	9213749		2203	4300	6503	SO:0001819	synonymous_variant	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213749G>T		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.234C>A	19.37:g.9213749G>T							p.T78T	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	234	-			57			Helical; Name=2; (Potential).		Q6IFJ4|Q96RA0	Silent	SNP	ENST00000305456.2	37	c.234C>A	CCDS32897.1																																																																																				PASS	0.502	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1			42	84	42	84	---	---	---	---
ZNF560	147741	broad.mit.edu	37	19	9584931	9584931	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:9584931T>A	ENST00000301480.4	-	4	314	c.101A>T	c.(100-102)cAg>cTg	p.Q34L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	34	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q34L(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						TAAGTTTCTCTGAACTGGGTC	0.438																																						uc002mlp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1)	6						c.(100-102)CAG>CTG		zinc finger protein 560							138.0	132.0	134.0					19																	9584931		2203	4300	6503	SO:0001583	missense	147741				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9584931T>A	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.101A>T	19.37:g.9584931T>A	ENSP00000301480:p.Gln34Leu					ZNF560_uc010dwr.1_5'UTR	p.Q34L	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN			4	311	-			34			KRAB 1.		Q495S9|Q495T1	Missense_Mutation	SNP	ENST00000301480.4	37	c.101A>T	CCDS12214.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.479086	0.26511	.	.	ENSG00000198028	ENST00000301480	T	0.09445	2.98	2.08	2.08	0.27032	Krueppel-associated box (4);	.	.	.	.	T	0.33847	0.0877	H	0.99011	4.4	0.09310	N	1	D	0.56521	0.976	P	0.49226	0.603	T	0.40961	-0.9535	9	0.87932	D	0	.	6.1486	0.20298	0.0:0.0:0.0:1.0	.	34	Q96MR9	ZN560_HUMAN	L	34	ENSP00000301480:Q34L	ENSP00000301480:Q34L	Q	-	2	0	ZNF560	9445931	0.532000	0.26346	0.019000	0.16419	0.013000	0.08279	0.369000	0.20416	1.222000	0.43521	0.374000	0.22700	CAG		PASS	0.438	ZNF560-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449901.1	NM_152476		48	98	48	98	---	---	---	---
DNMT1	1786	broad.mit.edu	37	19	10251546	10251546	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:10251546T>C	ENST00000340748.4	-	31	3621	c.3386A>G	c.(3385-3387)gAg>gGg	p.E1129G	DNMT1_ENST00000359526.4_Missense_Mutation_p.E1145G|DNMT1_ENST00000540357.1_Missense_Mutation_p.E1129G|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1129	Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.E1129G(1)		breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TATCTCTGGCTCGCTCGGCTC	0.617																																						uc002mng.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)|skin(1)	6						c.(3385-3387)GAG>GGG		DNA (cytosine-5-)-methyltransferase 1 isoform b	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						89.0	80.0	83.0					19																	10251546		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10251546T>C	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3386A>G	19.37:g.10251546T>C	ENSP00000345739:p.Glu1129Gly					DNMT1_uc002mne.2_5'Flank|DNMT1_uc002mnf.2_Missense_Mutation_p.E53G|DNMT1_uc010xlc.1_Missense_Mutation_p.E1145G|DNMT1_uc002mnh.2_Missense_Mutation_p.E1024G|DNMT1_uc010xld.1_Missense_Mutation_p.E1129G	p.E1129G	NM_001379	NP_001370	P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		31	3566	-			1129			Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.3386A>G	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	14.65	2.599476	0.46318	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	T;T;T	0.26223	1.75;1.75;1.76	5.48	4.44	0.53790	.	0.156799	0.53938	D	0.000043	T	0.30103	0.0754	M	0.74881	2.28	0.31980	N	0.606044	B;B;B	0.17038	0.02;0.02;0.012	B;B;B	0.17979	0.02;0.02;0.009	T	0.28522	-1.0041	10	0.39692	T	0.17	.	11.6148	0.51083	0.0:0.0:0.1493:0.8507	.	1129;1145;1129	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	G	1145;1129;1129;997	ENSP00000352516:E1145G;ENSP00000440457:E1129G;ENSP00000345739:E1129G	ENSP00000345739:E1129G	E	-	2	0	DNMT1	10112546	0.948000	0.32251	0.001000	0.08648	0.068000	0.16541	4.922000	0.63404	0.869000	0.35703	0.533000	0.62120	GAG		PASS	0.617	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		64	126	64	126	---	---	---	---
ICAM5	7087	broad.mit.edu	37	19	10404741	10404741	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:10404741C>A	ENST00000221980.4	+	8	1800	c.1737C>A	c.(1735-1737)agC>agA	p.S579R		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	579	Ig-like C2-type 7.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.S579R(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AGGAGCCGAGCTGCCCCAGCA	0.627																																						uc002mnu.3																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(1735-1737)AGC>AGA		intercellular adhesion molecule 5 precursor							42.0	49.0	47.0					19																	10404741		2197	4287	6484	SO:0001583	missense	7087				cell-cell adhesion	integral to plasma membrane		g.chr19:10404741C>A	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.1737C>A	19.37:g.10404741C>A	ENSP00000221980:p.Ser579Arg					ICAM5_uc002mnv.3_Missense_Mutation_p.S454R	p.S579R	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)		8	1802	+			579			Extracellular (Potential).|Ig-like C2-type 7.		Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	c.1737C>A	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.369952	0.42003	.	.	ENSG00000105376	ENST00000221980	T	0.75260	-0.92	4.69	4.69	0.59074	Immunoglobulin-like fold (1);	0.858417	0.10234	N	0.699300	T	0.64594	0.2612	L	0.34521	1.04	0.30473	N	0.773077	B	0.18166	0.026	B	0.20577	0.03	T	0.55379	-0.8150	10	0.15952	T	0.53	-13.495	12.9735	0.58525	0.0:1.0:0.0:0.0	.	579	Q9UMF0	ICAM5_HUMAN	R	579	ENSP00000221980:S579R	ENSP00000221980:S579R	S	+	3	2	ICAM5	10265741	0.826000	0.29277	0.992000	0.48379	0.896000	0.52359	0.220000	0.17660	2.431000	0.82371	0.549000	0.68633	AGC		PASS	0.627	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259		4	98	4	98	---	---	---	---
ZNF653	115950	broad.mit.edu	37	19	11598248	11598248	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:11598248C>A	ENST00000293771.5	-	4	1166	c.1030G>T	c.(1030-1032)Ggt>Tgt	p.G344C	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	344					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.G344C(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCGGGGACACCGCTGCCTGCT	0.657																																					Pancreas(83;980 1446 4542 6441 43352)	uc002mrz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1030-1032)GGT>TGT		zinc finger protein 653							66.0	55.0	59.0					19																	11598248		2203	4300	6503	SO:0001583	missense	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11598248C>A	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1030G>T	19.37:g.11598248C>A	ENSP00000293771:p.Gly344Cys						p.G344C	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN			4	1083	-			344					Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	c.1030G>T	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	C	9.261	1.043222	0.19748	.	.	ENSG00000161914	ENST00000293771	T	0.13420	2.59	3.06	-3.54	0.04653	.	0.362141	0.20271	N	0.095675	T	0.13243	0.0321	N	0.14661	0.345	0.33150	D	0.545551	D	0.76494	0.999	P	0.62298	0.9	T	0.17715	-1.0360	10	0.87932	D	0	-2.3948	8.0961	0.30829	0.0:0.5547:0.0:0.4453	.	344	Q96CK0	ZN653_HUMAN	C	344	ENSP00000293771:G344C	ENSP00000293771:G344C	G	-	1	0	ZNF653	11459248	0.000000	0.05858	0.172000	0.22920	0.082000	0.17680	-2.957000	0.00674	-0.711000	0.04995	0.462000	0.41574	GGT		PASS	0.657	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	NM_138783		29	48	29	48	---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12768923	12768923	+	Silent	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:12768923C>G	ENST00000456935.2	-	10	1303	c.1263G>C	c.(1261-1263)ctG>ctC	p.L421L	MAN2B1_ENST00000221363.4_Silent_p.L420L|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	421					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.L421L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGTTGGCCGCCAGGCCCACCA	0.667																																						uc002mub.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(1261-1263)CTG>CTC		mannosidase, alpha, class 2B, member 1							22.0	27.0	25.0					19																	12768923		2202	4298	6500	SO:0001819	synonymous_variant	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12768923C>G		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1263G>C	19.37:g.12768923C>G						MAN2B1_uc010dyv.1_Silent_p.L420L	p.L421L	NM_000528	NP_000519	O00754	MA2B1_HUMAN			10	1339	-			421					G5E928|O15330|Q16680|Q93094|Q9BW13	Silent	SNP	ENST00000456935.2	37	c.1263G>C	CCDS32919.1																																																																																				PASS	0.667	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			32	49	32	49	---	---	---	---
MAST1	22983	broad.mit.edu	37	19	12963199	12963199	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:12963199A>T	ENST00000251472.4	+	10	1106	c.1067A>T	c.(1066-1068)gAt>gTt	p.D356V	MAST1_ENST00000591495.1_Missense_Mutation_p.D352V	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1									p.D356V(2)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GAGCAAGACGATCTCTCTGAG	0.597																																						uc002mvm.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)|large_intestine(1)|skin(1)	7						c.(1066-1068)GAT>GTT		microtubule associated serine/threonine kinase							93.0	74.0	80.0					19																	12963199		2203	4300	6503	SO:0001583	missense	22983				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:12963199A>T	AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1067A>T	19.37:g.12963199A>T	ENSP00000251472:p.Asp356Val					MAST1_uc002mvk.2_Missense_Mutation_p.D352V	p.D356V	NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN			10	1195	+			356						Missense_Mutation	SNP	ENST00000251472.4	37	c.1067A>T	CCDS32921.1	.	.	.	.	.	.	.	.	.	.	A	13.42	2.231096	0.39399	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.67523	-0.27	5.6	5.6	0.85130	.	0.324759	0.29417	N	0.012201	T	0.55321	0.1913	L	0.27053	0.805	0.80722	D	1	B;B	0.18310	0.027;0.0	B;B	0.17722	0.019;0.005	T	0.53697	-0.8402	10	0.54805	T	0.06	-32.0458	14.0519	0.64742	1.0:0.0:0.0:0.0	.	356;356	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	V	356	ENSP00000251472:D356V	ENSP00000251472:D356V	D	+	2	0	MAST1	12824199	1.000000	0.71417	0.949000	0.38748	0.185000	0.23345	6.918000	0.75788	2.271000	0.75665	0.533000	0.62120	GAT		PASS	0.597	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451733.2	NM_014975		19	66	19	66	---	---	---	---
WIZ	58525	broad.mit.edu	37	19	15536511	15536511	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:15536511C>A	ENST00000389282.4	-	7	3934	c.3721G>T	c.(3721-3723)Ggc>Tgc	p.G1241C	WIZ_ENST00000599910.2_Missense_Mutation_p.G558C|WIZ_ENST00000263381.7_Missense_Mutation_p.G384C|WIZ_ENST00000599686.3_Missense_Mutation_p.G425C|WIZ_ENST00000545156.1_Missense_Mutation_p.G555C			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	1241					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.G555C(1)|p.G1241C(1)|p.G384C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTCGACAGGCCCTTGCGGTTC	0.637																																						uc002nbc.2																			3	Substitution - Missense(3)		lung(3)		0						c.(1672-1674)GGC>TGC		widely-interspaced zinc finger motifs							27.0	27.0	27.0					19																	15536511		2063	4184	6247	SO:0001583	missense	58525					nucleus	zinc ion binding	g.chr19:15536511C>A	AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3721G>T	19.37:g.15536511C>A	ENSP00000373933:p.Gly1241Cys					WIZ_uc002nba.3_Missense_Mutation_p.G425C|WIZ_uc002nbb.3_Missense_Mutation_p.G384C	p.G558C	NM_021241	NP_067064	O95785	WIZ_HUMAN			5	1695	-			1241			C2H2-type 9.		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	ENST00000389282.4	37	c.1672G>T		.	.	.	.	.	.	.	.	.	.	C	25.1	4.598011	0.87055	.	.	ENSG00000011451	ENST00000389282;ENST00000263381;ENST00000416927;ENST00000545156	T;T;T	0.32023	1.47;1.47;1.47	5.39	5.39	0.77823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.057356	0.64402	D	0.000002	T	0.57007	0.2024	M	0.70275	2.135	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.59710	-0.7403	10	0.72032	D	0.01	-29.7867	17.9248	0.88980	0.0:1.0:0.0:0.0	.	1241;384;425	O95785;O95785-2;B3KVH1	WIZ_HUMAN;.;.	C	1241;384;425;555	ENSP00000373933:G1241C;ENSP00000263381:G384C;ENSP00000445824:G555C	ENSP00000263381:G384C	G	-	1	0	WIZ	15397511	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.045000	0.71020	2.531000	0.85337	0.650000	0.86243	GGC		PASS	0.637	WIZ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021241		22	27	22	27	---	---	---	---
EPS15L1	58513	broad.mit.edu	37	19	16535895	16535895	+	Splice_Site	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:16535895T>C	ENST00000248070.6	-	9	930	c.791A>G	c.(790-792)cAg>cGg	p.Q264R	EPS15L1_ENST00000602009.1_Splice_Site_p.Q110R|EPS15L1_ENST00000594975.1_Splice_Site_p.Q264R|EPS15L1_ENST00000455140.2_Splice_Site_p.Q264R|EPS15L1_ENST00000535753.2_Splice_Site_p.Q264R|EPS15L1_ENST00000597937.1_Splice_Site_p.Q264R	NM_021235.2	NP_067058.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	264	Interaction with DAB2. {ECO:0000250}.				endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	clathrin coat of coated pit (GO:0030132)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q264R(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GCTCCGTACCTGTGTTTGCTT	0.602																																						uc002ndz.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(790-792)CAG>CGG		epidermal growth factor receptor pathway							50.0	50.0	50.0					19																	16535895		2203	4300	6503	SO:0001630	splice_region_variant	58513				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding	g.chr19:16535895T>C	AF110265	CCDS32944.1, CCDS58653.1, CCDS58654.1, CCDS59363.1	19p13.12	2013-01-10				ENSG00000127527		"""EF-hand domain containing"""	24634	protein-coding gene	gene with protein product							Standard	NM_001258374		Approved	eps15R	uc002ndx.4	Q9UBC2		ENST00000248070.6:c.792+1A>G	19.37:g.16535895T>C						EPS15L1_uc002ndx.2_Missense_Mutation_p.Q264R|EPS15L1_uc002ndy.2_RNA|EPS15L1_uc010xpe.1_Missense_Mutation_p.Q154R|EPS15L1_uc010xpf.1_Missense_Mutation_p.Q167R|EPS15L1_uc002nea.1_Missense_Mutation_p.Q264R|EPS15L1_uc010eah.1_Missense_Mutation_p.Q264R|EPS15L1_uc002neb.1_Missense_Mutation_p.Q110R|EPS15L1_uc002nec.1_Missense_Mutation_p.Q264R	p.Q264R	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN			9	797	-			264					A2RRF3|A5PL29|B4DKA3	Missense_Mutation	SNP	ENST00000248070.6	37	c.791A>G	CCDS32944.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019328	0.35606	.	.	ENSG00000127527	ENST00000455140;ENST00000248070;ENST00000535753	T;T;T	0.27720	1.65;1.65;1.65	4.65	4.65	0.58169	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.25195	0.0612	N	0.19112	0.55	0.37390	D	0.91242	P;P;D;D;P;B	0.54772	0.883;0.504;0.968;0.968;0.938;0.335	B;B;B;P;P;B	0.48704	0.379;0.109;0.4;0.587;0.532;0.054	T	0.08513	-1.0718	10	0.16896	T	0.51	.	13.4453	0.61138	0.0:0.0:0.0:1.0	.	264;264;263;264;264;264	A8K5P4;A5PL29;A5PKY0;A2RRF3;Q9UBC2;G3V0H2	.;.;.;.;EP15R_HUMAN;.	R	264	ENSP00000393313:Q264R;ENSP00000248070:Q264R;ENSP00000440103:Q264R	ENSP00000248070:Q264R	Q	-	2	0	EPS15L1	16396895	1.000000	0.71417	0.968000	0.41197	0.048000	0.14542	3.071000	0.50041	1.969000	0.57287	0.454000	0.30748	CAG		PASS	0.602	EPS15L1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461040.1	NM_021235	Missense_Mutation	3	115	3	115	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17720813	17720813	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:17720813G>T	ENST00000519716.2	-	43	4746	c.4747C>A	c.(4747-4749)Cgc>Agc	p.R1583S	UNC13A_ENST00000428389.2_Missense_Mutation_p.R1671S|UNC13A_ENST00000551649.1_Missense_Mutation_p.R1602S|UNC13A_ENST00000550896.1_Missense_Mutation_p.R1556S|UNC13A_ENST00000552293.1_Missense_Mutation_p.R1577S|UNC13A_ENST00000252773.7_Missense_Mutation_p.R1583S	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1583	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.R1671S(1)|p.R1583S(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCAAACTTGCGTTTCTTGTCG	0.522																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(5011-5013)CGC>AGC		unc-13 homolog A							144.0	153.0	150.0					19																	17720813		2085	4238	6323	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17720813G>T	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4747C>A	19.37:g.17720813G>T	ENSP00000429562:p.Arg1583Ser						p.R1671S	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			42	5011	-			1583			C2 3.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.5011C>A	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928830	0.73327	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	4.13	3.05	0.35203	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	U	0.000000	D	0.82328	0.5013	M	0.90922	3.16	0.46849	D	0.999222	D	0.89917	1.0	D	0.97110	1.0	D	0.84091	0.0390	10	0.87932	D	0	-15.6131	8.1329	0.31037	0.0:0.0:0.5706:0.4294	.	1583	Q9UPW8	UN13A_HUMAN	S	1583;1671;1583;1602;1577;1556	ENSP00000429562:R1583S;ENSP00000400409:R1671S;ENSP00000252773:R1583S;ENSP00000447236:R1602S;ENSP00000447572:R1577S;ENSP00000446831:R1556S	ENSP00000252773:R1583S	R	-	1	0	UNC13A	17581813	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.715000	0.54897	1.869000	0.54173	0.478000	0.44815	CGC		PASS	0.522	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		65	121	65	121	---	---	---	---
KXD1	79036	broad.mit.edu	37	19	18679273	18679273	+	Silent	SNP	G	G	T	rs200382590		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:18679273G>T	ENST00000602094.1	+	5	1823	c.363G>T	c.(361-363)acG>acT	p.T121T	KXD1_ENST00000601630.1_Silent_p.T140T|KXD1_ENST00000595073.1_Silent_p.T121T|KXD1_ENST00000539106.1_Silent_p.T121T|KXD1_ENST00000222307.4_Silent_p.T121T|KXD1_ENST00000599319.1_Silent_p.T121T|KXD1_ENST00000540691.1_Silent_p.T121T|AC005253.4_ENST00000593791.1_RNA			Q9BQD3	KXDL1_HUMAN	KxDL motif containing 1	121					vesicle-mediated transport (GO:0016192)	BLOC-1 complex (GO:0031083)		p.T121T(1)									CCAGCACCACGACCACCATTG	0.612																																						uc002njo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)ACG>ACT		hypothetical protein LOC79036							297.0	278.0	285.0					19																	18679273		2203	4300	6503	SO:0001819	synonymous_variant	79036						protein binding	g.chr19:18679273G>T	AK098346	CCDS12381.1	19p13.11	2011-11-24	2011-11-24	2011-11-24	ENSG00000105700	ENSG00000105700			28420	protein-coding gene	gene with protein product		615178	"""chromosome 19 open reading frame 50"""	C19orf50		21159114	Standard	NM_001171948		Approved	FLJ25480, MGC2749, KXDL	uc002njo.3	Q9BQD3		ENST00000602094.1:c.363G>T	19.37:g.18679273G>T						C19orf50_uc002njp.2_RNA|C19orf50_uc002njq.2_Silent_p.T121T	p.T121T	NM_024069	NP_076974	Q9BQD3	CS050_HUMAN			5	505	+			121					O76098	Silent	SNP	ENST00000602094.1	37	c.363G>T	CCDS12381.1																																																																																				PASS	0.612	KXD1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465107.1	NM_024069		155	357	155	357	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807265	20807265	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:20807265T>C	ENST00000601440.1	-	4	1564	c.1418A>G	c.(1417-1419)aAa>aGa	p.K473R	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	473					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.K473R(2)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTTTCTTATGTGT	0.388																																						uc002npb.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1417-1419)AAA>AGA		zinc finger protein 626 isoform 1							36.0	18.0	24.0					19																	20807265		1867	3682	5549	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807265T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1418A>G	19.37:g.20807265T>C	ENSP00000469958:p.Lys473Arg					ZNF626_uc002npc.1_Missense_Mutation_p.K397R	p.K473R	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1568	-			473			C2H2-type 11.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1418A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.101795	0.00360	.	.	ENSG00000188171	ENST00000392298;ENST00000453075	.	.	.	0.832	-1.66	0.08265	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	N	0.02403	-0.565	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.42464	-0.9450	8	0.02654	T	1	.	2.1914	0.03900	0.2908:0.4548:0.0:0.2543	rs55666616	473	Q68DY1	ZN626_HUMAN	R	473;397	.	ENSP00000376118:K473R	K	-	2	0	ZNF626	20599105	0.000000	0.05858	0.046000	0.18839	0.046000	0.14306	-2.543000	0.00934	-1.624000	0.01556	-1.731000	0.00696	AAA		PASS	0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		2	12	2	12	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807398	20807398	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:20807398C>T	ENST00000601440.1	-	4	1431	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	429					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.E429K(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTGCCACATTCTTCACATTTG	0.383																																						uc002npb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1285-1287)GAA>AAA		zinc finger protein 626 isoform 1							54.0	50.0	51.0					19																	20807398		2096	4211	6307	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807398C>T	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1285G>A	19.37:g.20807398C>T	ENSP00000469958:p.Glu429Lys					ZNF626_uc002npc.1_Missense_Mutation_p.E353K	p.E429K	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1435	-			429			C2H2-type 10.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1285G>A	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	6.727	0.502902	0.12822	.	.	ENSG00000188171	ENST00000392298;ENST00000453075;ENST00000305570	.	.	.	0.898	0.898	0.19264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44180	0.1281	L	0.33753	1.03	0.09310	N	1	B	0.26935	0.164	B	0.42593	0.392	T	0.53201	-0.8472	8	0.62326	D	0.03	.	7.1275	0.25479	0.0:1.0:0.0:0.0	.	429	Q68DY1	ZN626_HUMAN	K	429;353;429	.	ENSP00000445201:E429K	E	-	1	0	ZNF626	20599238	0.000000	0.05858	0.128000	0.21923	0.128000	0.20619	-0.975000	0.03790	0.284000	0.22305	0.289000	0.19496	GAA		PASS	0.383	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		12	101	12	101	---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21607137	21607137	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:21607137A>T	ENST00000355504.4	+	2	1558	c.1292A>T	c.(1291-1293)cAc>cTc	p.H431L	ZNF493_ENST00000392288.2_Missense_Mutation_p.H559L|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	431					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H431L(1)|p.H559L(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CGGTCCTCACACCTTACTACA	0.358																																						uc002npx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1291-1293)CAC>CTC		zinc finger protein 493 isoform 1							45.0	45.0	45.0					19																	21607137		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607137A>T	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1292A>T	19.37:g.21607137A>T	ENSP00000347691:p.His431Leu					ZNF493_uc002npw.2_Missense_Mutation_p.H559L|ZNF493_uc002npy.2_Missense_Mutation_p.H431L	p.H431L	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	1572	+			431			C2H2-type 15.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1292A>T	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0.283	-0.984946	0.02180	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.35605	1.3;1.3	1.06	-2.12	0.07165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13457	0.0326	N	0.16307	0.4	0.09310	N	0.999993	P;P	0.40332	0.671;0.713	B;B	0.30943	0.094;0.122	T	0.16600	-1.0397	9	0.20046	T	0.44	.	2.6842	0.05103	0.6111:0.0:0.1657:0.2232	.	431;559	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	L	559;431	ENSP00000376110:H559L;ENSP00000347691:H431L	ENSP00000347691:H431L	H	+	2	0	ZNF493	21398977	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.441000	0.02409	-1.397000	0.02068	-1.402000	0.01139	CAC		PASS	0.358	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		7	34	7	34	---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22154701	22154701	+	Silent	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:22154701A>C	ENST00000397126.4	-	4	3283	c.3135T>G	c.(3133-3135)acT>acG	p.T1045T	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	1045					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T917T(2)|p.T1045T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCTTATGTTCAGTAAGGCTTG	0.443																																						uc002nqp.2																			3	Substitution - coding silent(3)		lung(3)	ovary(5)|skin(2)	7						c.(2749-2751)ACT>ACG		zinc finger protein 208							114.0	118.0	117.0					19																	22154701		2125	4248	6373	SO:0001819	synonymous_variant	7757							g.chr19:22154701A>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.3135T>G	19.37:g.22154701A>C						ZNF208_uc002nqo.1_Intron	p.T917T	NM_007153	NP_009084					6	2900	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.2751T>G	CCDS54240.1																																																																																				PASS	0.443	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		49	127	49	127	---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22271571	22271571	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:22271571G>C	ENST00000594947.1	+	4	1163	c.1019G>C	c.(1018-1020)gGa>gCa	p.G340A		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G340A(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTCATACTGGAGAGAAACCC	0.403																																						uc010ecx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)GGA>GCA		zinc finger protein 257							45.0	49.0	47.0					19																	22271571		2169	4276	6445	SO:0001583	missense	113835				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22271571G>C	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1019G>C	19.37:g.22271571G>C	ENSP00000470209:p.Gly340Ala					ZNF257_uc010ecy.2_Missense_Mutation_p.G308A	p.G340A	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN			4	1188	+		all_lung(12;0.0961)|Lung NSC(12;0.103)	340					B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	c.1019G>C	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298124	0.23650	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.272	0.12919	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37544	0.1007	L	0.45470	1.425	0.31483	N	0.666919	B	0.31227	0.314	B	0.32090	0.14	T	0.39461	-0.9613	8	0.72032	D	0.01	.	6.4706	0.22005	0.1883:0.0:0.8117:0.0	.	340	Q9Y2Q1	ZN257_HUMAN	A	340;312	.	ENSP00000380312:G312A	G	+	2	0	ZNF257	22063411	0.974000	0.33945	0.043000	0.18650	0.040000	0.13550	0.754000	0.26390	-0.400000	0.07656	-0.657000	0.03884	GGA		PASS	0.403	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			20	45	20	45	---	---	---	---
PLEKHF1	79156	broad.mit.edu	37	19	30164860	30164860	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:30164860C>T	ENST00000436066.3	+	2	580	c.114C>T	c.(112-114)ggC>ggT	p.G38G	PLEKHF1_ENST00000592810.1_Silent_p.G38G	NM_024310.4	NP_077286.3	Q96S99	PKHF1_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 1	38	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic process (GO:0006915)|endosome organization (GO:0007032)|positive regulation of autophagy (GO:0010508)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein localization to plasma membrane (GO:0072659)|vesicle organization (GO:0016050)	endosome membrane (GO:0010008)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)	p.G38G(1)		breast(1)|lung(3)|ovary(1)|prostate(1)	6	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)			TGCTGCTGGGCGAGGGCGTGC	0.637																																						uc002nsh.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(112-114)GGC>GGT		apoptosis-inducing protein D							72.0	75.0	74.0					19																	30164860		2203	4300	6503	SO:0001819	synonymous_variant	79156				apoptosis	lysosome|nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr19:30164860C>T	AF434818	CCDS12417.1	19q11	2013-01-10				ENSG00000166289		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20764	protein-coding gene	gene with protein product		615200					Standard	NM_024310		Approved	APPD, MGC4090, PHAFIN1, ZFYVE15	uc002nsh.4	Q96S99		ENST00000436066.3:c.114C>T	19.37:g.30164860C>T						PLEKHF1_uc002nsi.3_Silent_p.G123G	p.G38G	NM_024310	NP_077286	Q96S99	PKHF1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0623)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.225)		2	216	+	Ovarian(5;0.000567)|Breast(6;0.0602)|Esophageal squamous(110;0.239)		38			PH.		Q96K11|Q9BUB9	Silent	SNP	ENST00000436066.3	37	c.114C>T	CCDS12417.1																																																																																				PASS	0.637	PLEKHF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459323.1	NM_024310		27	48	27	48	---	---	---	---
SBSN	374897	broad.mit.edu	37	19	36017690	36017690	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:36017690G>T	ENST00000452271.2	-	1	1522	c.1494C>A	c.(1492-1494)gtC>gtA	p.V498V	SBSN_ENST00000518157.1_Silent_p.V155V	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	498	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.V155V(1)|p.V498V(1)		large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGCATGGTTGACCCCTTGGC	0.597																																						uc002oae.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(463-465)GTC>GTA		suprabasin isoform 2 precursor							123.0	101.0	108.0					19																	36017690		2203	4300	6503	SO:0001819	synonymous_variant	374897					extracellular region		g.chr19:36017690G>T	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1494C>A	19.37:g.36017690G>T						SBSN_uc002oad.1_Silent_p.V498V	p.V155V	NM_198538	NP_940940	Q6UWP8	SBSN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	535	-	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		155			Ala/Gly/His-rich.		A8K5J0|E9PBV3	Silent	SNP	ENST00000452271.2	37	c.465C>A	CCDS54253.1																																																																																				PASS	0.597	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538		32	70	32	70	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36223758	36223758	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:36223758C>T	ENST00000222270.7	+	28	6308	c.6308C>T	c.(6307-6309)gCc>gTc	p.A2103V	KMT2B_ENST00000420124.1_Missense_Mutation_p.A2103V|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2103					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A2105V(1)									GGGGACAGGGCCCGGCCTCCT	0.657																																						uc010eei.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(6307-6309)GCC>GTC		myeloid/lymphoid or mixed-lineage leukemia 4							11.0	14.0	13.0					19																	36223758		1908	4119	6027	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36223758C>T	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6308C>T	19.37:g.36223758C>T	ENSP00000222270:p.Ala2103Val						p.A2103V	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		29	6308	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		2103					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.6308C>T	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	7.460	0.644512	0.14451	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.83506	-1.73;-1.73	4.35	2.2	0.27929	.	0.698644	0.12347	N	0.476913	T	0.73305	0.3570	L	0.40543	1.245	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.61564	-0.7037	10	0.46703	T	0.11	.	5.6487	0.17604	0.0:0.6539:0.1626:0.1836	.	2103	Q9UMN6	MLL4_HUMAN	V	2103	ENSP00000222270:A2103V;ENSP00000398837:A2103V	ENSP00000222270:A2103V	A	+	2	0	AD000671.1	40915598	0.015000	0.18098	0.859000	0.33776	0.962000	0.63368	0.956000	0.29202	0.580000	0.29522	0.455000	0.32223	GCC		PASS	0.657	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		5	12	5	12	---	---	---	---
RYR1	6261	broad.mit.edu	37	19	38993304	38993304	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:38993304G>T	ENST00000359596.3	+	48	7772	c.7772G>T	c.(7771-7773)cGg>cTg	p.R2591L	RYR1_ENST00000355481.4_Missense_Mutation_p.R2591L|RYR1_ENST00000360985.3_Missense_Mutation_p.R2591L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2591	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R2591L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CGCCTGTCTCGGGGTCGTTCG	0.647																																						uc002oit.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7771-7773)CGG>CTG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						70.0	56.0	61.0					19																	38993304		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38993304G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7772G>T	19.37:g.38993304G>T	ENSP00000352608:p.Arg2591Leu					RYR1_uc002oiu.2_Missense_Mutation_p.R2591L|RYR1_uc002oiv.1_5'UTR	p.R2591L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		48	7902	+	all_cancers(60;7.91e-06)		2591			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7772G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	9.765	1.171155	0.21621	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.92495	-3.05;-3.05;-3.05	4.02	4.02	0.46733	.	0.000000	0.64402	U	0.000004	D	0.89441	0.6716	L	0.48642	1.525	0.40073	D	0.976047	P;P	0.47841	0.901;0.841	B;B	0.41917	0.37;0.204	D	0.91698	0.5371	10	0.87932	D	0	.	15.4286	0.75075	0.0:0.0:1.0:0.0	.	2591;2591	P21817-2;P21817	.;RYR1_HUMAN	L	2591	ENSP00000352608:R2591L;ENSP00000347667:R2591L;ENSP00000354254:R2591L	ENSP00000347667:R2591L	R	+	2	0	RYR1	43685144	0.039000	0.19947	0.987000	0.45799	0.318000	0.28184	2.183000	0.42565	2.229000	0.72834	0.467000	0.42956	CGG		PASS	0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			17	46	17	46	---	---	---	---
MAP4K1	11184	broad.mit.edu	37	19	39096258	39096258	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:39096258C>T	ENST00000591517.1	-	18	1341	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	MAP4K1_ENST00000589130.1_Missense_Mutation_p.R434H|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000423454.2_Missense_Mutation_p.R100H|MAP4K1_ENST00000396857.2_Missense_Mutation_p.R438H|MAP4K1_ENST00000589002.1_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	438					activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R438H(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCCCAGGACGGGGGCTGTT	0.687																																						uc002oix.1																			2	Substitution - Missense(2)		lung(2)	skin(4)|lung(3)|ovary(1)	8						c.(1312-1314)CGT>CAT		mitogen-activated protein kinase kinase kinase																																				SO:0001583	missense	11184				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity	g.chr19:39096258C>T	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.1313G>A	19.37:g.39096258C>T	ENSP00000465039:p.Arg438His					MAP4K1_uc002oiw.1_Missense_Mutation_p.R25H|MAP4K1_uc002oiy.1_Missense_Mutation_p.R438H|MAP4K1_uc010xug.1_Missense_Mutation_p.R100H	p.R438H	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)		18	1421	-	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		438						Missense_Mutation	SNP	ENST00000591517.1	37	c.1313G>A	CCDS59385.1	.	.	.	.	.	.	.	.	.	.	.	0.052	-1.248539	0.01469	.	.	ENSG00000104814	ENST00000396857;ENST00000221409;ENST00000423454	T;T	0.25085	1.82;2.89	5.21	0.518	0.17030	.	1.631160	0.03370	N	0.198797	T	0.13243	0.0321	N	0.08118	0	0.09310	N	0.999997	B;B;B	0.12630	0.006;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.23154	-1.0196	10	0.12430	T	0.62	.	7.9017	0.29738	0.0:0.3627:0.0:0.6373	.	100;438;438	B4E087;Q92918-2;Q92918	.;.;M4K1_HUMAN	H	438;438;100	ENSP00000380066:R438H;ENSP00000396383:R100H	ENSP00000221409:R438H	R	-	2	0	MAP4K1	43788098	0.289000	0.24334	0.005000	0.12908	0.028000	0.11728	0.534000	0.23098	0.094000	0.17404	0.462000	0.41574	CGT		PASS	0.687	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600		9	9	9	9	---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40392476	40392476	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:40392476G>C	ENST00000221347.6	-	16	8035	c.8028C>G	c.(8026-8028)caC>caG	p.H2676Q		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2676	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.H2676Q(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCACCAGCTTGTGGCAAGAGG	0.577																																						uc002omp.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(1)	9						c.(8026-8028)CAC>CAG		Fc fragment of IgG binding protein precursor							39.0	41.0	41.0					19																	40392476		2192	4289	6481	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40392476G>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.8028C>G	19.37:g.40392476G>C	ENSP00000221347:p.His2676Gln						p.H2676Q	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		16	8036	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2676			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.8028C>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	8.722	0.914481	0.17907	.	.	ENSG00000090920	ENST00000221347	T	0.79845	-1.31	2.66	1.61	0.23674	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	0.066206	0.64402	D	0.000013	D	0.87325	0.6149	M	0.86268	2.805	0.25825	N	0.984235	D	0.89917	1.0	D	0.91635	0.999	T	0.75399	-0.3331	10	0.51188	T	0.08	.	5.9813	0.19409	0.2679:0.0:0.7321:0.0	.	2676	Q9Y6R7	FCGBP_HUMAN	Q	2676	ENSP00000221347:H2676Q	ENSP00000221347:H2676Q	H	-	3	2	FCGBP	45084316	0.698000	0.27777	1.000000	0.80357	0.504000	0.33889	0.768000	0.26590	1.495000	0.48549	0.298000	0.19748	CAC		PASS	0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		4	21	4	21	---	---	---	---
PGLYRP1	8993	broad.mit.edu	37	19	46526126	46526126	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:46526126G>A	ENST00000008938.4	-	1	197	c.154C>T	c.(154-156)Ctg>Ttg	p.L52L		NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	52					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)	p.L52L(1)		endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CGTAAGGGCAGGCTCAGGTGC	0.662																																						uc002pdx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(154-156)CTG>TTG		peptidoglycan recognition protein 1 precursor							40.0	33.0	35.0					19																	46526126		2203	4300	6503	SO:0001819	synonymous_variant	8993				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:46526126G>A	AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.154C>T	19.37:g.46526126G>A							p.L52L	NM_005091	NP_005082	O75594	PGRP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	1	198	-		all_neural(266;0.113)|Ovarian(192;0.127)	52					Q4VB36	Silent	SNP	ENST00000008938.4	37	c.154C>T	CCDS12680.1																																																																																				PASS	0.662	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461695.1	NM_005091		8	21	8	21	---	---	---	---
SLC6A16	28968	broad.mit.edu	37	19	49812653	49812653	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:49812653C>A	ENST00000335875.4	-	6	1133	c.892G>T	c.(892-894)Gta>Tta	p.V298L	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Missense_Mutation_p.V298L	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	298					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.V298L(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GGGAGCAGTACCAAGACATAG	0.478																																						uc002pmz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|kidney(1)	4						c.(892-894)GTA>TTA		solute carrier family 6, member 16							70.0	71.0	71.0					19																	49812653		1939	4135	6074	SO:0001583	missense	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49812653C>A	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.892G>T	19.37:g.49812653C>A	ENSP00000338627:p.Val298Leu					SLC6A16_uc002pna.2_Missense_Mutation_p.V298L|hsa-mir-4324|MI0015854_5'Flank	p.V298L	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	6	1126	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	298			Helical; Name=5; (Potential).		Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	ENST00000335875.4	37	c.892G>T	CCDS42590.1	.	.	.	.	.	.	.	.	.	.	C	12.11	1.839726	0.32513	.	.	ENSG00000063127	ENST00000335875;ENST00000454748	T;T	0.73681	-0.77;-0.77	4.37	-2.99	0.05497	.	0.447149	0.23760	N	0.044827	T	0.57548	0.2061	L	0.42245	1.32	0.09310	N	1	P;P	0.41978	0.767;0.543	B;B	0.42653	0.394;0.193	T	0.53180	-0.8475	10	0.49607	T	0.09	.	0.2494	0.00203	0.26:0.238:0.2552:0.2468	.	298;298	Q8IYV4;Q9GZN6	.;S6A16_HUMAN	L	298	ENSP00000338627:V298L;ENSP00000404022:V298L	ENSP00000338627:V298L	V	-	1	0	SLC6A16	54504465	0.212000	0.23540	0.000000	0.03702	0.001000	0.01503	-0.077000	0.11394	-0.381000	0.07882	-1.263000	0.01449	GTA		PASS	0.478	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		16	32	16	32	---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51917030	51917030	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:51917030G>A	ENST00000339313.5	-	10	1873	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	SIGLEC10_ENST00000436984.2_Missense_Mutation_p.P443L|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.P433L|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.P343L|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.P528L|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.P408L|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.P491L|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.P401L|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.P586L			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	586					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P528L(1)|p.P586L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAGAACCTGGGCCTCGGGGT	0.567																																						uc002pwo.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1756-1758)CCC>CTC		sialic acid binding Ig-like lectin 10 precursor							135.0	129.0	131.0					19																	51917030		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51917030G>A	AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1757C>T	19.37:g.51917030G>A	ENSP00000345243:p.Pro586Leu					SIGLEC10_uc002pwp.2_Missense_Mutation_p.P528L|SIGLEC10_uc002pwq.2_Missense_Mutation_p.P433L|SIGLEC10_uc002pwr.2_Missense_Mutation_p.P491L|SIGLEC10_uc010ycy.1_Missense_Mutation_p.P401L|SIGLEC10_uc010ycz.1_Missense_Mutation_p.P443L|SIGLEC10_uc010eow.2_Missense_Mutation_p.P303L|SIGLEC10_uc002pws.1_Missense_Mutation_p.P327L	p.P586L	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	10	2373	-		all_neural(266;0.0199)	586			Cytoplasmic (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1757C>T	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	10.66	1.411773	0.25465	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.53857	0.83;2.06;1.48;0.75;1.88;1.71;0.6;1.8;0.75	4.91	1.56	0.23342	.	16.211400	0.00166	N	0.000000	T	0.51719	0.1691	L	0.60455	1.87	0.09310	N	0.999999	B;P;B;D;B;P;B;B	0.54207	0.224;0.839;0.139;0.965;0.218;0.481;0.022;0.138	B;B;B;B;B;B;B;B	0.43508	0.11;0.367;0.08;0.422;0.167;0.295;0.007;0.065	T	0.40664	-0.9551	10	0.72032	D	0.01	.	4.3597	0.11196	0.2029:0.1894:0.6077:0.0	.	443;401;491;343;491;433;528;586	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	L	491;408;343;586;433;401;528;443;586	ENSP00000342389:P491L;ENSP00000396742:P408L;ENSP00000395475:P343L;ENSP00000348646:P586L;ENSP00000408387:P433L;ENSP00000431444:P401L;ENSP00000389132:P528L;ENSP00000414324:P443L;ENSP00000345243:P586L	ENSP00000345243:P586L	P	-	2	0	SIGLEC10	56608842	0.004000	0.15560	0.006000	0.13384	0.166000	0.22503	0.721000	0.25911	0.467000	0.27218	0.561000	0.74099	CCC		PASS	0.567	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		50	110	50	110	---	---	---	---
SIGLEC6	946	broad.mit.edu	37	19	52034754	52034754	+	Silent	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:52034754C>G	ENST00000425629.3	-	2	241	c.87G>C	c.(85-87)cgG>cgC	p.R29R	SIGLEC6_ENST00000346477.3_Silent_p.R29R|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Silent_p.R29R|SIGLEC6_ENST00000359982.4_Silent_p.R29R|SIGLEC6_ENST00000343300.4_Silent_p.R29R	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	29	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)	p.R29R(1)|p.R18R(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GCTGGAATCTCCGCTCCTGAG	0.657																																						uc002pwy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(85-87)CGG>CGC		sialic acid binding Ig-like lectin 6 isoform 1							40.0	46.0	44.0					19																	52034754		2167	4282	6449	SO:0001819	synonymous_variant	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034754C>G	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.87G>C	19.37:g.52034754C>G						SIGLEC6_uc002pwz.2_Silent_p.R29R|SIGLEC6_uc002pxa.2_Silent_p.R29R|SIGLEC6_uc010ydb.1_Intron|SIGLEC6_uc010ydc.1_Silent_p.R18R|SIGLEC6_uc010eoz.1_Silent_p.R18R|SIGLEC6_uc010epb.1_Intron|SIGLEC6_uc010epa.1_Silent_p.R18R	p.R29R	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	2	249	-		all_neural(266;0.0199)	29			Extracellular (Potential).|Ig-like V-type.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Silent	SNP	ENST00000425629.3	37	c.87G>C	CCDS12834.3																																																																																				PASS	0.657	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		27	67	27	67	---	---	---	---
FPR1	2357	broad.mit.edu	37	19	52249292	52249292	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:52249292C>T	ENST00000595042.1	-	3	1097	c.956G>A	c.(955-957)aGt>aAt	p.S319N	FPR1_ENST00000304748.4_Missense_Mutation_p.S319N	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	319					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)	p.S319N(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCTCTCCAGACTGGCGGGAAG	0.562																																						uc002pxq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(955-957)AGT>AAT		formyl peptide receptor 1	Nedocromil(DB00716)						107.0	102.0	104.0					19																	52249292		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249292C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.956G>A	19.37:g.52249292C>T	ENSP00000471493:p.Ser319Asn						p.S319N	NM_002029	NP_002020	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	2	1051	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	319			Cytoplasmic (Potential).		Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.956G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	8.633	0.894037	0.17613	.	.	ENSG00000171051	ENST00000304748	T	0.37752	1.18	3.55	2.37	0.29283	.	0.410761	0.22961	N	0.053546	T	0.39784	0.1091	M	0.82323	2.585	0.24268	N	0.995254	B	0.29552	0.248	B	0.35607	0.206	T	0.31336	-0.9947	10	0.41790	T	0.15	.	5.6657	0.17695	0.2206:0.5644:0.215:0.0	.	319	P21462	FPR1_HUMAN	N	319	ENSP00000302707:S319N	ENSP00000302707:S319N	S	-	2	0	FPR1	56941104	0.001000	0.12720	1.000000	0.80357	0.163000	0.22366	0.635000	0.24629	1.907000	0.55213	0.650000	0.86243	AGT		PASS	0.562	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		56	99	56	99	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53678739	53678739	+	Intron	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:53678739C>A	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Missense_Mutation_p.R34M			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						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.R34M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		CATGACGTCCCTGTACAAAGT	0.453																																						uc010eqm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(100-102)AGG>ATG		zinc finger protein 665							136.0	141.0	139.0					19																	53678739		2203	4300	6503	SO:0001627	intron_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53678739C>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9139G>T	19.37:g.53678739C>A							p.R34M	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	201	-			Error:Variant_position_missing_in_Q9H7R5_after_alignment					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.101G>T		.	.	.	.	.	.	.	.	.	.	C	9.070	0.996555	0.19043	.	.	ENSG00000197497	ENST00000396424	T	0.02787	4.16	2.67	-0.844	0.10741	.	.	.	.	.	T	0.08537	0.0212	.	.	.	0.21740	N	0.999567	D	0.89917	1.0	D	0.73380	0.98	T	0.25641	-1.0126	8	0.87932	D	0	.	2.88	0.05644	0.0:0.342:0.2407:0.4173	.	34	Q9H7R5-2	.	M	34	ENSP00000379702:R34M	ENSP00000379702:R34M	R	-	2	0	ZNF665	58370551	0.003000	0.15002	0.221000	0.23827	0.008000	0.06430	-0.323000	0.07997	0.020000	0.15106	-0.175000	0.13238	AGG		PASS	0.453	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		44	113	44	113	---	---	---	---
DPRX	503834	broad.mit.edu	37	19	54140174	54140174	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:54140174C>A	ENST00000376650.1	+	3	559	c.508C>A	c.(508-510)Caa>Aaa	p.Q170K		NM_001012728.1	NP_001012746.1	A6NFQ7	DPRX_HUMAN	divergent-paired related homeobox	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q170K(1)		endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		TTTGGAATCCCAAGTTTGCGC	0.443																																						uc002qcf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(508-510)CAA>AAA		divergent-paired related homeobox							115.0	113.0	114.0					19																	54140174		2203	4300	6503	SO:0001583	missense	503834					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:54140174C>A		CCDS33103.1	19q13.42	2011-06-20			ENSG00000204595	ENSG00000204595		"""Homeoboxes / PRD class"""	32166	protein-coding gene	gene with protein product		611165					Standard	NM_001012728		Approved		uc002qcf.1	A6NFQ7		ENST00000376650.1:c.508C>A	19.37:g.54140174C>A	ENSP00000365838:p.Gln170Lys						p.Q170K	NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN		GBM - Glioblastoma multiforme(134;0.013)	3	559	+	Ovarian(34;0.19)		170						Missense_Mutation	SNP	ENST00000376650.1	37	c.508C>A	CCDS33103.1	.	.	.	.	.	.	.	.	.	.	c	5.823	0.336059	0.11013	.	.	ENSG00000204595	ENST00000376650	D	0.94330	-3.4	1.45	0.392	0.16288	.	.	.	.	.	T	0.78679	0.4321	N	0.14661	0.345	0.09310	N	1	P	0.45531	0.86	B	0.28385	0.089	T	0.72327	-0.4327	9	0.19590	T	0.45	.	3.6811	0.08310	0.0:0.7502:0.0:0.2498	.	170	A6NFQ7	DPRX_HUMAN	K	170	ENSP00000365838:Q170K	ENSP00000365838:Q170K	Q	+	1	0	DPRX	58831986	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	0.281000	0.18810	0.178000	0.19917	0.561000	0.74099	CAA		PASS	0.443	DPRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409880.1	NM_001012728		43	129	43	129	---	---	---	---
PRKCG	5582	broad.mit.edu	37	19	54401275	54401275	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:54401275C>A	ENST00000263431.3	+	10	1284	c.1002C>A	c.(1000-1002)ccC>ccA	p.P334P	PRKCG_ENST00000540413.1_Silent_p.P334P|PRKCG_ENST00000542049.1_Silent_p.P221P|PRKCG_ENST00000536044.1_Missense_Mutation_p.P305Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	334					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.P334P(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCACCGACCCCAAGCGCTGCT	0.587																																						uc002qcq.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(2)|pancreas(2)|large_intestine(1)	9						c.(1000-1002)CCC>CCA		protein kinase C, gamma							60.0	61.0	60.0					19																	54401275		2203	4300	6503	SO:0001819	synonymous_variant	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54401275C>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1002C>A	19.37:g.54401275C>A						PRKCG_uc010yef.1_Missense_Mutation_p.P305Q|PRKCG_uc010yeg.1_Silent_p.P334P|PRKCG_uc010yeh.1_Silent_p.P221P	p.P334P	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	10	1284	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		334					B7Z8Q0	Silent	SNP	ENST00000263431.3	37	c.1002C>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.654509	0.47467	.	.	ENSG00000126583	ENST00000536044	T	0.78707	-1.2	5.14	4.11	0.48088	.	.	.	.	.	T	0.60894	0.2304	.	.	.	0.80722	D	1	P	0.35011	0.48	B	0.30943	0.122	T	0.56282	-0.8005	8	0.13108	T	0.6	.	11.3291	0.49467	0.0:0.9109:0.0:0.0891	.	305	B7Z870	.	Q	305	ENSP00000440541:P305Q	ENSP00000440541:P305Q	P	+	2	0	PRKCG	59093087	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	1.648000	0.37271	1.319000	0.45190	0.484000	0.47621	CCA		PASS	0.587	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		29	74	29	74	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146609	55146609	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:55146609C>A	ENST00000396331.1	+	12	1895	c.1538C>A	c.(1537-1539)aCa>aAa	p.T513K	LILRB1_ENST00000396327.3_Missense_Mutation_p.T514K|LILRB1_ENST00000324602.7_Missense_Mutation_p.T514K|LILRB1_ENST00000434867.2_Missense_Mutation_p.T513K|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Missense_Mutation_p.T513K|LILRB1_ENST00000427581.2_Missense_Mutation_p.T563K|LILRB1_ENST00000418536.2_Missense_Mutation_p.T497K|LILRB1_ENST00000396317.1_Missense_Mutation_p.T497K|LILRB1_ENST00000396315.1_Missense_Mutation_p.T514K|LILRB1_ENST00000396332.4_Missense_Mutation_p.T513K	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	513					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.T513K(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCAGAGCCCACAGACAGAGGC	0.612										HNSCC(37;0.09)																												uc002qgj.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(1537-1539)ACA>AAA		leukocyte immunoglobulin-like receptor,							14.0	18.0	17.0					19																	55146609		2013	4137	6150	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146609C>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.1538C>A	19.37:g.55146609C>A	ENSP00000379622:p.Thr513Lys	HNSCC(37;0.09)				LILRB1_uc010erp.1_Missense_Mutation_p.T128K|LILRB1_uc002qgl.2_Missense_Mutation_p.T513K|LILRB1_uc002qgk.2_Missense_Mutation_p.T514K|LILRB1_uc002qgm.2_Missense_Mutation_p.T514K|LILRB1_uc010erq.2_Missense_Mutation_p.T497K|LILRB1_uc010err.2_Intron	p.T513K	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	12	1878	+			513			Cytoplasmic (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.1538C>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.851406	0.00066	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T	0.00482	7.19;7.18;7.19;7.16;7.15;7.19;7.18;7.1;7.18;7.15	1.35	-2.7	0.06004	.	.	.	.	.	T	0.00073	0.0002	N	0.00210	-1.845	0.09310	N	1	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.001;0.0;0.003;0.0;0.002;0.001	T	0.38457	-0.9660	9	0.02654	T	1	.	0.2673	0.00227	0.2412:0.2343:0.2942:0.2303	.	497;513;514;513;514;513	A8MVE2;D9IDM5;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;.;LIRB1_HUMAN	K	513;497;513;514;514;513;513;563;497;514	ENSP00000379614:T513K;ENSP00000391514:T497K;ENSP00000379622:T513K;ENSP00000379618:T514K;ENSP00000315997:T514K;ENSP00000405243:T513K;ENSP00000379623:T513K;ENSP00000395004:T563K;ENSP00000379610:T497K;ENSP00000379608:T514K	ENSP00000315997:T514K	T	+	2	0	LILRB1	59838421	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-1.094000	0.03359	-1.497000	0.01826	-1.086000	0.02197	ACA		PASS	0.612	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			11	34	11	34	---	---	---	---
DNAAF3	352909	broad.mit.edu	37	19	55670582	55670582	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:55670582C>A	ENST00000524407.2	-	12	1507	c.1474G>T	c.(1474-1476)Ggc>Tgc	p.G492C	DNAAF3_ENST00000455045.1_Missense_Mutation_p.G438C|CTD-2587H24.5_ENST00000591665.1_RNA|TNNI3_ENST00000590463.1_5'Flank|TNNI3_ENST00000344887.5_5'Flank|TNNI3_ENST00000588882.1_5'Flank|DNAAF3_ENST00000527223.2_Missense_Mutation_p.G559C|CTD-2587H24.4_ENST00000587871.1_Missense_Mutation_p.G153V|DNAAF3_ENST00000587789.2_5'UTR|DNAAF3_ENST00000391720.4_Missense_Mutation_p.G539C			Q8N9W5	DAAF3_HUMAN	dynein, axonemal, assembly factor 3	492					axonemal dynein complex assembly (GO:0070286)|motile cilium assembly (GO:0044458)	cytoplasm (GO:0005737)		p.G539C(1)									TGGGTCAGGCCCTCAAGGGCT	0.632																																						uc002qji.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1474-1476)GGC>TGC		RecName: Full=UPF0470 protein C19orf51;							23.0	27.0	26.0					19																	55670582		1939	4134	6073	SO:0001583	missense	352909							g.chr19:55670582C>A	AK097388	CCDS12918.2, CCDS58679.1, CCDS58680.1, CCDS59422.1	19q13.42	2012-10-05	2012-03-09	2012-03-09	ENSG00000167646	ENSG00000167646			30492	protein-coding gene	gene with protein product		614566	"""chromosome 19 open reading frame 51"", ""ciliary dyskinesia, primary 2"""	C19orf51, CILD2		22387996	Standard	NM_001256714		Approved	FLJ40069, FLJ36139, PF22, PCD	uc002qjl.2	Q8N9W5	OTTHUMG00000128547	ENST00000524407.2:c.1474G>T	19.37:g.55670582C>A	ENSP00000432046:p.Gly492Cys					TNNI3_uc002qjg.3_5'Flank|TNNI3_uc010yft.1_5'Flank|C19orf51_uc002qjh.1_Missense_Mutation_p.G307C|C19orf51_uc002qjj.1_Missense_Mutation_p.G539C|C19orf51_uc002qjk.1_Missense_Mutation_p.G438C|C19orf51_uc002qjl.1_Missense_Mutation_p.G559C	p.G492C			Q8N9W5	CS051_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	12	1508	-			492					A8MUY0|E3W9A1|E9PAX5|Q6P4F6|Q8N9W0|Q96AR2	Missense_Mutation	SNP	ENST00000524407.2	37	c.1474G>T	CCDS59422.1	.	.	.	.	.	.	.	.	.	.	c	14.34	2.507481	0.44558	.	.	ENSG00000167646	ENST00000301249;ENST00000455045;ENST00000391720	T;T	0.19394	2.17;2.15	3.91	2.87	0.33458	.	2.109490	0.02350	N	0.075843	T	0.16428	0.0395	N	0.08118	0	0.09310	N	1	D;D;P;P	0.53619	0.961;0.961;0.932;0.932	P;P;P;P	0.47162	0.54;0.54;0.54;0.54	T	0.19063	-1.0317	10	0.66056	D	0.02	-0.7316	5.7522	0.18152	0.0:0.6956:0.1976:0.1067	.	559;438;512;492	E9PAX5;E3W9A1;Q8N9W5-3;Q8N9W5	.;.;.;CS051_HUMAN	C	559;438;539	ENSP00000394343:G438C;ENSP00000375600:G539C	ENSP00000301249:G559C	G	-	1	0	C19orf51	60362394	0.000000	0.05858	0.002000	0.10522	0.040000	0.13550	0.057000	0.14279	1.242000	0.43836	0.556000	0.70494	GGC		PASS	0.632	DNAAF3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250388.5	NM_178837		8	35	8	35	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56321514	56321514	+	Missense_Mutation	SNP	C	C	G	rs143277549	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:56321514C>G	ENST00000589093.1	-	3	555	c.462G>C	c.(460-462)gaG>gaC	p.E154D	NLRP11_ENST00000443188.1_Missense_Mutation_p.E154D|NLRP11_ENST00000589824.2_Missense_Mutation_p.E154D|NLRP11_ENST00000592953.1_Missense_Mutation_p.E55D|NLRP11_ENST00000360133.3_Missense_Mutation_p.E154D			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	154	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.E154D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAGATGCTCTCTCTCCCATCA	0.423																																						uc010ygf.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(460-462)GAG>GAC		NLR family, pyrin domain containing 11		C	ASP/GLU	6,4400	11.4+/-27.6	0,6,2197	85.0	78.0	81.0		462	-4.5	0.0	19	dbSNP_134	81	0,8600		0,0,4300	yes	missense	NLRP11	NM_145007.3	45	0,6,6497	GG,GC,CC		0.0,0.1362,0.0461	benign	154/1034	56321514	6,13000	2203	4300	6503	SO:0001583	missense	204801						ATP binding	g.chr19:56321514C>G	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.462G>C	19.37:g.56321514C>G	ENSP00000466285:p.Glu154Asp					NLRP11_uc002qlz.2_Missense_Mutation_p.E55D|NLRP11_uc002qmb.2_Missense_Mutation_p.E55D|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.E154D	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1173	-		Colorectal(82;0.0002)	154			ATP (Potential).|NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	c.462G>C	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-3.845962	0.00004	0.001362	0.0	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.79141	-1.24;-1.24	2.25	-4.51	0.03483	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.53190	0.1781	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.0	T	0.55224	-0.8174	9	0.27785	T	0.31	.	2.2796	0.04111	0.2723:0.3806:0.2097:0.1374	.	154;154	P59045;P59045-2	NAL11_HUMAN;.	D	154	ENSP00000409898:E154D;ENSP00000353251:E154D	ENSP00000353251:E154D	E	-	3	2	NLRP11	61013326	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-6.488000	0.00064	-7.228000	0.00001	-4.509000	0.00005	GAG		PASS	0.423	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		24	63	24	63	---	---	---	---
NLRP4	147945	broad.mit.edu	37	19	56370413	56370413	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:56370413G>C	ENST00000301295.6	+	3	2076	c.1654G>C	c.(1654-1656)Gcg>Ccg	p.A552P	NLRP4_ENST00000587891.1_Missense_Mutation_p.A477P|NLRP4_ENST00000346986.5_Missense_Mutation_p.A552P	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	552					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.A552P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GGATTCCTTGGCGATATTTTA	0.468																																						uc002qmd.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(1654-1656)GCG>CCG		NLR family, pyrin domain containing 4							71.0	73.0	72.0					19																	56370413		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56370413G>C	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1654G>C	19.37:g.56370413G>C	ENSP00000301295:p.Ala552Pro					NLRP4_uc002qmf.2_Missense_Mutation_p.A477P|NLRP4_uc010etf.2_Missense_Mutation_p.A383P	p.A552P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	3	2076	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	552					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.1654G>C	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.397110	0.42512	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.84223	-1.82;-1.82	4.15	-7.74	0.01241	.	.	.	.	.	T	0.80686	0.4670	L	0.29908	0.895	0.09310	N	1	B;D;D	0.71674	0.069;0.998;0.997	B;D;P	0.65443	0.062;0.935;0.852	T	0.70687	-0.4803	9	0.49607	T	0.09	.	1.5055	0.02486	0.4194:0.2537:0.1984:0.1284	.	552;477;552	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	P	552	ENSP00000301295:A552P;ENSP00000344787:A552P	ENSP00000301295:A552P	A	+	1	0	NLRP4	61062225	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.168000	0.16622	-1.557000	0.01692	-0.229000	0.12294	GCG		PASS	0.468	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444		37	73	37	73	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56538652	56538652	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:56538652G>A	ENST00000390649.3	+	7	1053	c.1053G>A	c.(1051-1053)atG>atA	p.M351I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	351	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.M351I(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGGAGATCATGTCCCGACCAG	0.547																																						uc002qmj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1051-1053)ATG>ATA		NACHT, LRR and PYD containing protein 5							43.0	43.0	43.0					19																	56538652		2054	4216	6270	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56538652G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1053G>A	19.37:g.56538652G>A	ENSP00000375063:p.Met351Ile					NLRP5_uc002qmi.2_Missense_Mutation_p.M332I	p.M351I	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1053	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	351			NACHT.		A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.1053G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535552	0.27475	.	.	ENSG00000171487	ENST00000390649	T	0.80123	-1.34	3.35	2.32	0.28847	NACHT nucleoside triphosphatase (1);	0.530450	0.15946	N	0.236977	T	0.73768	0.3629	L	0.43152	1.355	0.20563	N	0.999889	B	0.30361	0.277	B	0.39617	0.305	T	0.60821	-0.7187	10	0.25751	T	0.34	.	6.5632	0.22497	0.1321:0.0:0.8679:0.0	.	351	P59047	NALP5_HUMAN	I	351	ENSP00000375063:M351I	ENSP00000375063:M351I	M	+	3	0	NLRP5	61230464	0.236000	0.23804	0.308000	0.25141	0.062000	0.15995	2.173000	0.42472	0.983000	0.38602	0.655000	0.94253	ATG		PASS	0.547	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		12	31	12	31	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328278	57328279	+	Missense_Mutation	DNP	CC	CC	AA	rs541630820	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:57328278_57328279CC>AA	ENST00000326441.9	-	10	1894_1895	c.1531_1532GG>TT	c.(1531-1533)GGa>TTa	p.G511L	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.G387L|PEG3_ENST00000593695.1_Missense_Mutation_p.G385L|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G511L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	511					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G511*(4)|p.G511V(2)|p.G511L(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAGGTCTCTCCACAGTCCTTA	0.45																																						uc002qnu.2																			8	Substitution - Missense(4)|Substitution - Nonsense(4)		lung(8)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(1531-1533)GGA>GTA|c.(1531-1533)GGA>TGA		paternally expressed 3 isoform 1																																				SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328278C>A|g.chr19:57328279C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1531_1532delinsAA	19.37:g.57328278_57328279delinsAA	ENSP00000326581:p.Gly511Leu					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G482V|PEG3_uc002qnv.2_Missense_Mutation_p.G511V|PEG3_uc002qnw.2_Missense_Mutation_p.G387V|PEG3_uc002qnx.2_Missense_Mutation_p.G385V|PEG3_uc010etr.2_Missense_Mutation_p.G511V|ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Nonsense_Mutation_p.G482*|PEG3_uc002qnv.2_Nonsense_Mutation_p.G511*|PEG3_uc002qnw.2_Nonsense_Mutation_p.G387*|PEG3_uc002qnx.2_Nonsense_Mutation_p.G385*|PEG3_uc010etr.2_Nonsense_Mutation_p.G511*	p.G511V|p.G511*	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1883|1882	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	511			C2H2-type 2.		A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000326441.9	37	c.1532G>T|c.1531G>T	CCDS12948.1																																																																																				PASS	0.450	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			63|61	141	61	141	---	---	---	---
ZNF304	57343	broad.mit.edu	37	19	57867773	57867773	+	Missense_Mutation	SNP	G	G	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:57867773G>C	ENST00000282286.5	+	3	709	c.536G>C	c.(535-537)aGc>aCc	p.S179T	ZNF304_ENST00000391705.3_Missense_Mutation_p.S179T|ZNF304_ENST00000443917.2_Missense_Mutation_p.S226T|ZNF304_ENST00000598744.1_Missense_Mutation_p.S137T			Q9HCX3	ZN304_HUMAN	zinc finger protein 304	179					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.S179T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TTACCAGATAGCTCTGGCCTT	0.517																																						uc010ygw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(535-537)AGC>ACC		zinc finger protein 304							119.0	90.0	100.0					19																	57867773		2203	4300	6503	SO:0001583	missense	57343				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57867773G>C	AJ276316	CCDS12950.1, CCDS74462.1	19q13.4	2013-01-08				ENSG00000131845		"""Zinc fingers, C2H2-type"", ""-"""	13505	protein-coding gene	gene with protein product		613840					Standard	XM_005259090		Approved		uc010ygw.2	Q9HCX3		ENST00000282286.5:c.536G>C	19.37:g.57867773G>C	ENSP00000282286:p.Ser179Thr					ZNF304_uc010etw.2_Missense_Mutation_p.S226T|ZNF304_uc010etx.2_Missense_Mutation_p.S137T	p.S179T	NM_020657	NP_065708	Q9HCX3	ZN304_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	3	924	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	179						Missense_Mutation	SNP	ENST00000282286.5	37	c.536G>C	CCDS12950.1	.	.	.	.	.	.	.	.	.	.	g	13.64	2.298707	0.40694	.	.	ENSG00000131845	ENST00000282286;ENST00000391705;ENST00000443917	T;T;T	0.16196	2.36;2.36;2.36	3.54	2.51	0.30379	.	.	.	.	.	T	0.21186	0.0510	L	0.58428	1.81	0.09310	N	1	D;D	0.56521	0.958;0.976	P;P	0.50049	0.475;0.629	T	0.09552	-1.0669	9	0.22109	T	0.4	.	6.7913	0.23701	0.128:0.0:0.872:0.0	.	179;226	Q9HCX3;E7EQD3	ZN304_HUMAN;.	T	179;179;226	ENSP00000282286:S179T;ENSP00000375586:S179T;ENSP00000401642:S226T	ENSP00000282286:S179T	S	+	2	0	ZNF304	62559585	0.002000	0.14202	0.011000	0.14972	0.490000	0.33462	0.248000	0.18198	1.078000	0.41014	0.450000	0.29827	AGC		PASS	0.517	ZNF304-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465785.1			27	68	27	68	---	---	---	---
ZIK1	284307	broad.mit.edu	37	19	58100030	58100030	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:58100030C>T	ENST00000597850.1	+	3	411	c.196C>T	c.(196-198)Ctg>Ttg	p.L66L	ZIK1_ENST00000307468.4_Intron|ZIK1_ENST00000599456.1_Silent_p.L11L|ZIK1_ENST00000536878.2_Silent_p.L53L	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	66	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L66L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGTAGCCTCACTGGGTAAGGC	0.502																																						uc002qpg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(196-198)CTG>TTG		zinc finger protein interacting with K protein							166.0	139.0	148.0					19																	58100030		2203	4300	6503	SO:0001819	synonymous_variant	284307				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58100030C>T	AK092538	CCDS33135.1	19q13.43	2013-01-08	2012-12-07		ENSG00000171649	ENSG00000171649		"""Zinc fingers, C2H2-type"", ""-"""	33104	protein-coding gene	gene with protein product			"""zinc finger protein interacting with K protein 1 homolog (mouse)"""				Standard	XM_005258769		Approved	ZNF762	uc002qpg.3	Q3SY52		ENST00000597850.1:c.196C>T	19.37:g.58100030C>T						ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.L11L|ZIK1_uc002qpi.2_Silent_p.L53L|ZIK1_uc002qpj.2_Intron	p.L66L	NM_001010879	NP_001010879	Q3SY52	ZIK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	293	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	66			KRAB.		O43339|Q3SY51|Q3SY53	Silent	SNP	ENST00000597850.1	37	c.196C>T	CCDS33135.1																																																																																				PASS	0.502	ZIK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466791.1	NM_001010879		27	71	27	71	---	---	---	---
SLC27A5	10998	broad.mit.edu	37	19	59021301	59021301	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr19:59021301C>A	ENST00000263093.2	-	3	1079	c.970G>T	c.(970-972)Gcc>Tcc	p.A324S	SLC27A5_ENST00000601355.1_Missense_Mutation_p.A240S	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	324					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.A324S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TCAGCTGTGGCCCCAGATAAG	0.577																																						uc002qtc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)GCC>TCC		solute carrier family 27 (fatty acid							196.0	124.0	148.0					19																	59021301		2203	4300	6503	SO:0001583	missense	10998				bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	g.chr19:59021301C>A	AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.970G>T	19.37:g.59021301C>A	ENSP00000263093:p.Ala324Ser						p.A324S	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)	3	1080	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	324			Cytoplasmic (Probable).		B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	c.970G>T	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	c	13.94	2.386101	0.42308	.	.	ENSG00000083807	ENST00000263093	T	0.49432	0.78	4.71	-0.918	0.10482	AMP-dependent synthetase/ligase (1);	1.153570	0.06328	N	0.705722	T	0.33059	0.0850	L	0.33792	1.035	0.09310	N	1	B	0.33345	0.409	B	0.33121	0.158	T	0.26744	-1.0094	10	0.42905	T	0.14	-1.2668	3.7331	0.08500	0.1655:0.4741:0.0:0.3604	.	324	Q9Y2P5	S27A5_HUMAN	S	324	ENSP00000263093:A324S	ENSP00000263093:A324S	A	-	1	0	SLC27A5	63713113	0.000000	0.05858	0.004000	0.12327	0.727000	0.41649	0.408000	0.21065	-0.122000	0.11766	0.485000	0.47835	GCC		PASS	0.577	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1	NM_012254		32	53	32	53	---	---	---	---
ZNF343	79175	broad.mit.edu	37	20	2464715	2464715	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:2464715C>A	ENST00000278772.4	-	6	1379	c.892G>T	c.(892-894)Gtg>Ttg	p.V298L	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	298					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.V298L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TCACTGCACACATAAGGCTTC	0.488																																						uc002wge.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(892-894)GTG>TTG		zinc finger protein 343							76.0	67.0	70.0					20																	2464715		2203	4300	6503	SO:0001583	missense	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464715C>A	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.892G>T	20.37:g.2464715C>A	ENSP00000278772:p.Val298Leu					ZNF343_uc010gao.1_Missense_Mutation_p.V298L|ZNF343_uc002wgd.1_Missense_Mutation_p.V208L	p.V298L	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN			6	1380	-			298			C2H2-type 2.		Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Missense_Mutation	SNP	ENST00000278772.4	37	c.892G>T	CCDS13028.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659087	0.29515	.	.	ENSG00000088876	ENST00000278772	T	0.28069	1.63	2.3	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14485	0.0350	N	0.05619	-0.005	0.09310	N	1	B	0.27166	0.17	B	0.33121	0.158	T	0.29274	-1.0017	9	0.31617	T	0.26	.	2.7633	0.05313	0.2793:0.5579:0.0:0.1628	.	298	Q6P1L6	ZN343_HUMAN	L	298	ENSP00000278772:V298L	ENSP00000278772:V298L	V	-	1	0	ZNF343	2412715	0.000000	0.05858	0.004000	0.12327	0.697000	0.40408	-2.592000	0.00898	0.539000	0.28788	0.591000	0.81541	GTG		PASS	0.488	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		34	63	34	63	---	---	---	---
C20orf194	25943	broad.mit.edu	37	20	3274874	3274874	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:3274874T>A	ENST00000252032.9	-	25	2216	c.2149A>T	c.(2149-2151)Att>Ttt	p.I717F	C20orf194_ENST00000498079.1_5'Flank|C20orf194_ENST00000453730.2_Missense_Mutation_p.I455F	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	717								p.I717F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TCCTGGCTAATGCTGCTGATG	0.463																																						uc002wii.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2149-2151)ATT>TTT		hypothetical protein LOC25943							70.0	66.0	67.0					20																	3274874		1944	4161	6105	SO:0001583	missense	25943							g.chr20:3274874T>A	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.2149A>T	20.37:g.3274874T>A	ENSP00000252032:p.Ile717Phe					C20orf194_uc002wij.3_Missense_Mutation_p.I456F|C20orf194_uc002wik.2_Missense_Mutation_p.I391F	p.I717F	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			25	2200	-			717					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.2149A>T	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.004552	0.35320	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.36157	2.07;1.27	5.71	-2.91	0.05631	.	0.503034	0.23197	N	0.050830	T	0.28366	0.0701	L	0.47716	1.5	0.39342	D	0.965601	B;B	0.30361	0.277;0.277	B;B	0.29785	0.107;0.067	T	0.15350	-1.0440	10	0.62326	D	0.03	.	12.5213	0.56060	0.0:0.588:0.0:0.412	.	456;717	Q0IIP3;Q5TEA3	.;CT194_HUMAN	F	717;455	ENSP00000252032:I717F;ENSP00000407229:I455F	ENSP00000252032:I717F	I	-	1	0	C20orf194	3222874	0.653000	0.27358	0.987000	0.45799	0.415000	0.31203	-0.340000	0.07821	-0.358000	0.08162	-0.274000	0.10170	ATT		PASS	0.463	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		7	41	7	41	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3673596	3673596	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:3673596G>T	ENST00000344754.4	-	14	3690	c.3691C>A	c.(3691-3693)Cca>Aca	p.P1231T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.P1231T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1231	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.P1231T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTGGGCTGTGGCCCTCGCAGC	0.716																																						uc002wja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(3691-3693)CCA>ACA		sialoadhesin precursor							27.0	30.0	29.0					20																	3673596		2201	4298	6499	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673596G>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3691C>A	20.37:g.3673596G>T	ENSP00000341141:p.Pro1231Thr					SIGLEC1_uc002wjb.1_5'UTR|SIGLEC1_uc002wiz.3_Missense_Mutation_p.P1231T	p.P1231T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			14	3691	-			1231			Ig-like C2-type 12.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3691C>A	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.16|11.16	1.556674|1.556674	0.27827|0.27827	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.11604	.|2.76;2.76	4.98|4.98	4.98|4.98	0.66077|0.66077	.|Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.39407	.|N	.|0.001369	T|T	0.19127|0.19127	0.0459|0.0459	N|N	0.26042|0.26042	0.785|0.785	0.34786|0.34786	D|D	0.735224|0.735224	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.76071	.|0.984;0.987	T|T	0.12451|0.12451	-1.0547|-1.0547	5|10	.|0.28530	.|T	.|0.3	.|.	13.6137|13.6137	0.62094|0.62094	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1231;1231	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	D|T	44|1231	.|ENSP00000341141:P1231T;ENSP00000202578:P1231T	.|ENSP00000202578:P1231T	A|P	-|-	2|1	0|0	SIGLEC1|SIGLEC1	3621596|3621596	0.009000|0.009000	0.17119|0.17119	0.908000|0.908000	0.35775|0.35775	0.959000|0.959000	0.62525|0.62525	0.812000|0.812000	0.27211|0.27211	2.593000|2.593000	0.87608|0.87608	0.655000|0.655000	0.94253|0.94253	GCC|CCA		PASS	0.716	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		30	31	30	31	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4850594	4850594	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:4850594C>A	ENST00000379333.1	-	12	1600	c.1208G>T	c.(1207-1209)cGg>cTg	p.R403L	SLC23A2_ENST00000338244.1_Missense_Mutation_p.R403L|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000424750.2_Missense_Mutation_p.R289L|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	403					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.R403L(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACAGGACAGCCGTGCACAGGC	0.577																																						uc002wlg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1207-1209)CGG>CTG		solute carrier family 23 (nucleobase							85.0	84.0	84.0					20																	4850594		2203	4300	6503	SO:0001583	missense	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4850594C>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1208G>T	20.37:g.4850594C>A	ENSP00000368637:p.Arg403Leu					SLC23A2_uc010zqr.1_Missense_Mutation_p.R288L|SLC23A2_uc002wlh.1_Missense_Mutation_p.R403L|SLC23A2_uc002wli.2_Missense_Mutation_p.R402L	p.R403L	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			12	1583	-			403					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	c.1208G>T	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383098	0.82792	.	.	ENSG00000089057	ENST00000379333;ENST00000338244;ENST00000424750	T;T;T	0.18338	2.22;2.22;2.22	5.49	5.49	0.81192	.	0.089808	0.64402	D	0.000001	T	0.43722	0.1260	M	0.71036	2.16	0.58432	D	0.999998	D;D;D	0.71674	0.997;0.998;0.995	D;D;D	0.81914	0.995;0.974;0.974	T	0.29212	-1.0019	10	0.87932	D	0	-20.6402	18.3024	0.90168	0.0:1.0:0.0:0.0	.	289;403;403	B4DJZ1;A0MSJ5;Q9UGH3	.;.;S23A2_HUMAN	L	403;403;289	ENSP00000368637:R403L;ENSP00000344322:R403L;ENSP00000406601:R289L	ENSP00000344322:R403L	R	-	2	0	SLC23A2	4798594	0.995000	0.38212	0.898000	0.35279	0.268000	0.26511	7.796000	0.85898	2.740000	0.93945	0.563000	0.77884	CGG		PASS	0.577	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			54	61	54	61	---	---	---	---
ANKEF1	63926	broad.mit.edu	37	20	10032359	10032359	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:10032359T>C	ENST00000378380.3	+	7	2021	c.1692T>C	c.(1690-1692)ttT>ttC	p.F564F	ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.F564F	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	564							calcium ion binding (GO:0005509)	p.F564F(1)									CACTTCATTTTGCATGCCATG	0.373																																						uc002wno.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1690-1692)TTT>TTC		ankyrin repeat domain protein 5							96.0	90.0	92.0					20																	10032359		2203	4300	6503	SO:0001819	synonymous_variant	63926						calcium ion binding	g.chr20:10032359T>C	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.1692T>C	20.37:g.10032359T>C						uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.F564F|ANKRD5_uc010gbz.2_Silent_p.F375F	p.F564F	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN			8	2085	+			564			ANK 6.		B3KUQ0|Q9H6Y9	Silent	SNP	ENST00000378380.3	37	c.1692T>C	CCDS13108.1																																																																																				PASS	0.373	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077968.2	NM_022096		19	103	19	103	---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	13055143	13055143	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:13055143T>C	ENST00000399002.2	+	4	879	c.605T>C	c.(604-606)aTg>aCg	p.M202T	SPTLC3_ENST00000378194.4_Missense_Mutation_p.M202T	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	202					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)	p.M202T(1)|p.M175T(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						AGGCATGAAATGGGTATGTAC	0.423																																						uc002wod.1																			2	Substitution - Missense(2)		lung(2)		0						c.(604-606)ATG>ACG		serine palmitoyltransferase, long chain base	Pyridoxal Phosphate(DB00114)						162.0	160.0	161.0					20																	13055143		1975	4158	6133	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13055143T>C	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.605T>C	20.37:g.13055143T>C	ENSP00000381968:p.Met202Thr						p.M202T	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN			4	894	+			202					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.605T>C	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	T	14.57	2.576031	0.45902	.	.	ENSG00000172296	ENST00000399002;ENST00000378194;ENST00000450297	D;D;D	0.94687	-2.6;-2.6;-3.49	6.17	6.17	0.99709	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.114545	0.85682	D	0.000000	D	0.89040	0.6602	N	0.11131	0.1	0.58432	D	0.999999	P	0.41188	0.741	B	0.41135	0.348	D	0.88829	0.3304	10	0.27785	T	0.31	-18.7856	16.8222	0.85835	0.0:0.0:0.0:1.0	.	202	Q9NUV7	SPTC3_HUMAN	T	202;202;175	ENSP00000381968:M202T;ENSP00000367436:M202T;ENSP00000409125:M175T	ENSP00000367436:M202T	M	+	2	0	SPTLC3	13003143	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.423	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		9	189	9	189	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13830172	13830172	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:13830172C>A	ENST00000284951.5	-	20	2100	c.2026G>T	c.(2026-2028)Gtt>Ttt	p.V676F	SEL1L2_ENST00000378072.5_Missense_Mutation_p.V563F|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	676						integral component of membrane (GO:0016021)		p.V676F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGCCCAGGAACAATGAGGCCA	0.483																																						uc010gcf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2026-2028)GTT>TTT		sel-1 suppressor of lin-12-like 2 precursor							156.0	152.0	154.0					20																	13830172		1934	4145	6079	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13830172C>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.2026G>T	20.37:g.13830172C>A	ENSP00000284951:p.Val676Phe					SEL1L2_uc002woq.3_Missense_Mutation_p.V537F|SEL1L2_uc010zrl.1_Missense_Mutation_p.V563F|SEL1L2_uc002wor.2_RNA	p.V676F	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			20	2108	-			676			Helical; (Potential).		B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.2026G>T		.	.	.	.	.	.	.	.	.	.	C	10.13	1.267101	0.23136	.	.	ENSG00000101251	ENST00000378072;ENST00000284951	T;T	0.25749	1.78;2.1	5.39	0.177	0.15054	.	0.624434	0.15061	N	0.282758	T	0.15392	0.0371	L	0.40543	1.245	0.33490	D	0.588606	P;B	0.38195	0.622;0.392	B;B	0.30029	0.11;0.11	T	0.24119	-1.0169	10	0.38643	T	0.18	-6.4527	7.4927	0.27471	0.0:0.5564:0.0:0.4436	.	563;676	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	F	563;676	ENSP00000367312:V563F;ENSP00000284951:V676F	ENSP00000284951:V676F	V	-	1	0	SEL1L2	13778172	0.907000	0.30839	0.898000	0.35279	0.116000	0.19942	-0.040000	0.12104	0.279000	0.22186	0.638000	0.83543	GTT		PASS	0.483	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		11	75	11	75	---	---	---	---
MACROD2	140733	broad.mit.edu	37	20	14066307	14066307	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:14066307G>T	ENST00000310348.4	+	3	204	c.204G>T	c.(202-204)ttG>ttT	p.L68F	MACROD2_ENST00000217246.4_Missense_Mutation_p.L68F			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	68	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.L68F(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AGAAAAGTTTGACTGAAAAAG	0.318																																						uc002wou.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)TTG>TTT		MACRO domain containing 2 isoform 1							82.0	78.0	79.0					20																	14066307		1814	4066	5880	SO:0001583	missense	140733							g.chr20:14066307G>T	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.204G>T	20.37:g.14066307G>T	ENSP00000309809:p.Leu68Phe					MACROD2_uc002wot.2_Missense_Mutation_p.L68F	p.L68F	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN			3	468	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	68			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.204G>T	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923531	0.52653	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.42900	0.96;0.96	5.97	5.97	0.96955	Appr-1-p processing (1);	0.509049	0.17980	N	0.155566	T	0.60405	0.2266	M	0.62723	1.935	0.80722	D	1	D;P	0.76494	0.999;0.718	D;B	0.83275	0.996;0.439	T	0.58595	-0.7609	10	0.54805	T	0.06	-9.3643	11.2286	0.48899	0.0825:0.0:0.9175:0.0	.	68;68	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	F	68	ENSP00000217246:L68F;ENSP00000309809:L68F	ENSP00000217246:L68F	L	+	3	2	MACROD2	14014307	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.844000	0.55873	2.833000	0.97629	0.585000	0.79938	TTG		PASS	0.318	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		19	27	19	27	---	---	---	---
SEC23B	10483	broad.mit.edu	37	20	18505080	18505080	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:18505080G>T	ENST00000336714.3	+	5	802	c.370G>T	c.(370-372)Ggt>Tgt	p.G124C	SEC23B_ENST00000377465.1_Missense_Mutation_p.G124C|SEC23B_ENST00000262544.2_Missense_Mutation_p.G124C|SEC23B_ENST00000377475.3_Missense_Mutation_p.G124C	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	124					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.G124C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CCCAAAGCGAGGTGCTCAGTC	0.418																																						uc002wqz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)GGT>TGT		Sec23 homolog B							124.0	116.0	119.0					20																	18505080		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18505080G>T	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.370G>T	20.37:g.18505080G>T	ENSP00000338844:p.Gly124Cys					SEC23B_uc002wra.1_Missense_Mutation_p.G124C|SEC23B_uc002wrb.1_Missense_Mutation_p.G124C|SEC23B_uc010zsb.1_Intron|SEC23B_uc002wrc.1_Missense_Mutation_p.G124C	p.G124C	NM_006363	NP_006354	Q15437	SC23B_HUMAN			5	813	+			124					D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.370G>T	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683822	0.88639	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.87887	-1.74;-2.31;-2.31;-2.31;-2.31	4.9	4.9	0.64082	Zinc finger, Sec23/Sec24-type (1);	0.046924	0.85682	D	0.000000	D	0.87896	0.6293	M	0.78049	2.395	0.80722	D	1	B	0.18013	0.025	B	0.17722	0.019	D	0.86111	0.1562	10	0.66056	D	0.02	-19.9033	17.2507	0.87041	0.0:0.0:1.0:0.0	.	124	Q15437	SC23B_HUMAN	C	124	ENSP00000403971:G124C;ENSP00000338844:G124C;ENSP00000262544:G124C;ENSP00000366695:G124C;ENSP00000366685:G124C	ENSP00000262544:G124C	G	+	1	0	SEC23B	18453080	1.000000	0.71417	0.976000	0.42696	0.985000	0.73830	9.581000	0.98210	2.555000	0.86185	0.585000	0.79938	GGT		PASS	0.418	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5			23	105	23	105	---	---	---	---
ACSS1	84532	broad.mit.edu	37	20	25003611	25003611	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:25003611C>T	ENST00000323482.4	-	5	1004	c.925G>A	c.(925-927)Gca>Aca	p.A309T	ACSS1_ENST00000542618.1_Missense_Mutation_p.A188T|ACSS1_ENST00000432802.2_Missense_Mutation_p.A309T|ACSS1_ENST00000537502.1_Missense_Mutation_p.A226T	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	309					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.A309T(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTAGCCTGCCTGGGTATGG	0.637																																						uc002wub.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(925-927)GCA>ACA		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						75.0	57.0	63.0					20																	25003611		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25003611C>T		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.925G>A	20.37:g.25003611C>T	ENSP00000316924:p.Ala309Thr					ACSS1_uc002wuc.2_Missense_Mutation_p.A309T|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.A226T	p.A309T	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			5	1803	-			309					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.925G>A	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.275108	0.80580	.	.	ENSG00000154930	ENST00000323482;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.42	4.49	0.54785	AMP-dependent synthetase/ligase (1);	0.050933	0.85682	N	0.000000	T	0.70281	0.3206	M	0.84433	2.695	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.79784	0.988;0.993;0.982	T	0.75662	-0.3240	10	0.87932	D	0	-50.5068	12.7666	0.57394	0.0:0.9202:0.0:0.0797	.	309;309;226	Q9NUB1-2;Q9NUB1;Q6ZV30	.;ACS2L_HUMAN;.	T	309;226;309;188	ENSP00000316924:A309T;ENSP00000439304:A226T;ENSP00000388793:A309T;ENSP00000437657:A188T	ENSP00000316924:A309T	A	-	1	0	ACSS1	24951611	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	7.398000	0.79919	1.309000	0.44985	0.462000	0.41574	GCA		PASS	0.637	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		11	39	11	39	---	---	---	---
BPIFB4	149954	broad.mit.edu	37	20	31673913	31673913	+	Missense_Mutation	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:31673913T>A	ENST00000375483.3	+	5	869	c.869T>A	c.(868-870)cTg>cAg	p.L290Q		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	290						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.L251Q(1)									TATCCTCGGCTGGTCATTGAG	0.582																																						uc010zue.1																			1	Substitution - Missense(1)		lung(1)		0						c.(868-870)CTG>CAG		antimicrobial peptide RY2G5 precursor							104.0	87.0	93.0					20																	31673913		2203	4300	6503	SO:0001583	missense	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31673913T>A	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.869T>A	20.37:g.31673913T>A	ENSP00000364632:p.Leu290Gln						p.L290Q	NM_182519	NP_872325	P59827	LPLC4_HUMAN			5	884	+			290					Q5TDX6	Missense_Mutation	SNP	ENST00000375483.3	37	c.869T>A	CCDS13213.2	.	.	.	.	.	.	.	.	.	.	T	19.37	3.814366	0.70912	.	.	ENSG00000186191	ENST00000375483	T	0.06142	3.34	3.94	3.94	0.45596	.	0.000000	0.52532	D	0.000069	T	0.13372	0.0324	M	0.64404	1.975	0.37264	D	0.907124	P	0.47841	0.901	P	0.51742	0.678	T	0.02533	-1.1145	10	0.87932	D	0	-0.8045	9.1151	0.36753	0.0:0.0:0.0:1.0	.	290	P59827	BPIB4_HUMAN	Q	290	ENSP00000364632:L290Q	ENSP00000364632:L290Q	L	+	2	0	BPIFB4	31137574	0.999000	0.42202	0.934000	0.37439	0.996000	0.88848	4.328000	0.59253	1.649000	0.50652	0.402000	0.26972	CTG		PASS	0.582	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5	NM_182519		92	98	92	98	---	---	---	---
CBFA2T2	9139	broad.mit.edu	37	20	32078086	32078086	+	5'UTR	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:32078086C>T	ENST00000375279.2	+	0	164				CBFA2T2_ENST00000342704.6_Missense_Mutation_p.P5S			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2						epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.P5S(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGTAGGCGTCCCTGGAGCGGC	0.786																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	uc002wze.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(13-15)CCT>TCT		core-binding factor, runt domain, alpha subunit							3.0	3.0	3.0					20																	32078086		1213	2991	4204	SO:0001623	5_prime_UTR_variant	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32078086C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000375279.2:c.-249C>T	20.37:g.32078086C>T						CBFA2T2_uc010zug.1_5'UTR	p.P5S	NM_001032999	NP_001028171	O43439	MTG8R_HUMAN			1	159	+			Error:Variant_position_missing_in_O43439_after_alignment					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000375279.2	37	c.13C>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	c	12.18	1.859889	0.32884	.	.	ENSG00000078699	ENST00000342704;ENST00000417366	T	0.39592	1.07	2.55	1.6	0.23607	.	.	.	.	.	T	0.22205	0.0535	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.05750	-1.0866	9	0.13470	T	0.59	.	5.3283	0.15918	0.0:0.8368:0.0:0.1632	.	5	F8W6D7	.	S	5	ENSP00000345810:P5S	ENSP00000345810:P5S	P	+	1	0	CBFA2T2	31541747	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	0.722000	0.25925	0.652000	0.30806	-0.370000	0.07254	CCT		PASS	0.786	CBFA2T2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		6	5	6	5	---	---	---	---
EPPIN	57119	broad.mit.edu	37	20	44171468	44171468	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:44171468C>G	ENST00000354280.4	-	3	328	c.262G>C	c.(262-264)Gct>Cct	p.A88P	EPPIN_ENST00000336443.3_Missense_Mutation_p.A72P|EPPIN_ENST00000555685.1_Missense_Mutation_p.A88P|EPPIN-WFDC6_ENST00000504988.1_Missense_Mutation_p.A88P|EPPIN_ENST00000409554.1_Intron	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor	88	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A72P(2)									AGAAAATAAGCCAGGCAGGGG	0.428																																						uc002xou.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(262-264)GCT>CCT		serine peptidase inhibitor-like, with Kunitz and							103.0	104.0	104.0					20																	44171468		2203	4300	6503	SO:0001583	missense	57119					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44171468C>G	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588	ENST00000354280.4:c.262G>C	20.37:g.44171468C>G	ENSP00000361746:p.Ala88Pro					SPINLW1_uc010zxc.1_Missense_Mutation_p.A88P|SPINLW1_uc002xot.2_Missense_Mutation_p.A72P|SPINLW1_uc002xov.1_3'UTR	p.A88P	NM_020398	NP_065131	O95925	EPPI_HUMAN			3	294	-		Myeloproliferative disorder(115;0.0122)	88			BPTI/Kunitz inhibitor.		A6PVD6|Q86TP9|Q96SD7|Q9HD30	Missense_Mutation	SNP	ENST00000354280.4	37	c.262G>C	CCDS13359.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257356	0.59321	.	.	ENSG00000101448;ENSG00000101448;ENSG00000101448;ENSG00000249139	ENST00000555685;ENST00000354280;ENST00000336443;ENST00000504988	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.41	4.41	0.53225	Proteinase inhibitor I2, Kunitz metazoa (6);	0.760397	0.12050	N	0.504164	D	0.82499	0.5050	H	0.96015	3.755	0.39775	D	0.972224	D;P;D	0.89917	1.0;0.896;0.999	D;P;D	0.80764	0.994;0.46;0.956	D	0.83628	0.0143	10	0.39692	T	0.17	.	12.6999	0.57026	0.0:1.0:0.0:0.0	.	88;88;72	A6PVD6;O95925;O95925-2	.;EPPI_HUMAN;.	P	88;88;72;88	ENSP00000452085:A88P;ENSP00000361746:A88P;ENSP00000338114:A72P;ENSP00000424176:A88P	ENSP00000338114:A72P	A	-	1	0	SPINLW1;SPINLW1-WFDC6	43604882	0.969000	0.33509	0.969000	0.41365	0.031000	0.12232	2.776000	0.47709	2.454000	0.82982	0.563000	0.77884	GCT		PASS	0.428	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			41	44	41	44	---	---	---	---
SPATA25	128497	broad.mit.edu	37	20	44515306	44515306	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:44515306G>T	ENST00000372519.3	-	2	578	c.534C>A	c.(532-534)atC>atA	p.I178I		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	178					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.I178I(1)									GAGCGGCCCAGATCAGGTCCT	0.642																																						uc002xqf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(532-534)ATC>ATA		chromosome 20 open reading frame 165							61.0	64.0	63.0					20																	44515306		2203	4300	6503	SO:0001819	synonymous_variant	128497					integral to membrane		g.chr20:44515306G>T	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.534C>A	20.37:g.44515306G>T							p.I178I	NM_080608	NP_542175	Q9BR10	CT165_HUMAN			2	543	-		Myeloproliferative disorder(115;0.0122)	178						Silent	SNP	ENST00000372519.3	37	c.534C>A	CCDS13383.1																																																																																				PASS	0.642	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			45	41	45	41	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57415389	57415389	+	Silent	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:57415389C>T	ENST00000313949.7	+	1	617	c.228C>T	c.(226-228)ttC>ttT	p.F76F	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371075.3_Silent_p.F76F|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Silent_p.F76F			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.F76F(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCAGGTATTCCCTGAGTCCC	0.662			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzt.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		1	Substitution - coding silent(1)		lung(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(226-228)TTC>TTT		GNAS complex locus NESP55							47.0	55.0	52.0					20																	57415389		2203	4300	6503	SO:0001819	synonymous_variant	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57415389C>T	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000313949.7:c.228C>T	20.37:g.57415389C>T		TSP Lung(22;0.16)				GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank	p.F76F	NM_016592	NP_057676	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	595	+	all_lung(29;0.0104)		76					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Silent	SNP	ENST00000313949.7	37	c.228C>T	CCDS13471.1																																																																																				PASS	0.662	GNAS-002	KNOWN	NMD_exception|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080418.7	NM_000516		63	64	63	64	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58318262	58318262	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:58318262G>T	ENST00000371015.1	+	2	686	c.219G>T	c.(217-219)agG>agT	p.R73S	PHACTR3_ENST00000541461.1_Missense_Mutation_p.R32S|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R32S|PHACTR3_ENST00000359926.3_Missense_Mutation_p.R70S|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R32S|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R32S|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R32S	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	73						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.R73S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CCCTGGGCAGGATCTTCAAAC	0.557																																						uc002yau.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(217-219)AGG>AGT		phosphatase and actin regulator 3 isoform 1							74.0	74.0	74.0					20																	58318262		2203	4300	6503	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58318262G>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.219G>T	20.37:g.58318262G>T	ENSP00000360054:p.Arg73Ser					PHACTR3_uc002yat.2_Missense_Mutation_p.R70S|PHACTR3_uc010zzw.1_Missense_Mutation_p.R32S|PHACTR3_uc002yav.2_Missense_Mutation_p.R32S|PHACTR3_uc002yaw.2_Missense_Mutation_p.R32S|PHACTR3_uc002yax.2_Missense_Mutation_p.R32S	p.R73S	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		2	686	+	all_lung(29;0.00344)		73					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.219G>T	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.784042	0.70222	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.43294	1.28;1.3;0.95;1.36;1.36;1.36;0.95	4.41	2.36	0.29203	.	0.000000	0.85682	D	0.000000	T	0.58906	0.2155	M	0.71036	2.16	0.58432	D	0.999999	D;D;D	0.89917	0.989;1.0;0.999	D;D;D	0.85130	0.985;0.997;0.994	T	0.60419	-0.7267	10	0.87932	D	0	-21.6449	9.2103	0.37316	0.1888:0.0:0.8112:0.0	.	32;73;70	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	S	70;73;32;32;32;32;32	ENSP00000353002:R70S;ENSP00000360054:R73S;ENSP00000379001:R32S;ENSP00000442483:R32S;ENSP00000347866:R32S;ENSP00000378998:R32S;ENSP00000354555:R32S	ENSP00000347866:R32S	R	+	3	2	PHACTR3	57751657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.282000	0.43461	0.796000	0.33947	0.462000	0.41574	AGG		PASS	0.557	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		42	35	42	35	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60884880	60884880	+	Missense_Mutation	SNP	C	C	T	rs77106948	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr20:60884880C>T	ENST00000252999.3	-	79	10906	c.10840G>A	c.(10840-10842)Ggg>Agg	p.G3614R	LAMA5_ENST00000492698.1_5'Flank	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3614	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)	p.G3614R(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			AGCACATTCCCGCTTTTCATC	0.672																																						uc002ycq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(10840-10842)GGG>AGG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						29.0	33.0	31.0					20																	60884880		2181	4262	6443	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60884880C>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.10840G>A	20.37:g.60884880C>T	ENSP00000252999:p.Gly3614Arg						p.G3614R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		79	10907	-	Breast(26;1.57e-08)		3614			Laminin G-like 5.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.10840G>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	c	6.378	0.437833	0.12104	.	.	ENSG00000130702	ENST00000252999	T	0.79749	-1.3	4.95	-4.32	0.03688	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.373976	0.29145	N	0.013016	T	0.55081	0.1898	N	0.13168	0.305	0.09310	N	0.999999	B	0.10296	0.003	B	0.06405	0.002	T	0.49588	-0.8924	10	0.09338	T	0.73	.	8.9313	0.35672	0.0:0.1402:0.1293:0.7305	.	3614	O15230	LAMA5_HUMAN	R	3614	ENSP00000252999:G3614R	ENSP00000252999:G3614R	G	-	1	0	LAMA5	60318275	0.000000	0.05858	0.000000	0.03702	0.124000	0.20399	0.352000	0.20113	-0.739000	0.04809	0.450000	0.29827	GGG		PASS	0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		15	23	15	23	---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	31062053	31062053	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr21:31062053C>A	ENST00000399907.1	-	3	950	c.539G>T	c.(538-540)aGc>aTc	p.S180I	GRIK1_ENST00000389124.2_Missense_Mutation_p.S180I|GRIK1_ENST00000389125.3_Missense_Mutation_p.S180I|GRIK1_ENST00000327783.4_Missense_Mutation_p.S180I|GRIK1_ENST00000535441.1_Missense_Mutation_p.S180I|GRIK1_ENST00000309434.7_Missense_Mutation_p.S180I|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.S180I|GRIK1_ENST00000399914.1_Missense_Mutation_p.S180I|GRIK1_ENST00000399913.1_Missense_Mutation_p.S180I	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	180					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|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)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.S180I(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CATACCTGTGCTGTCTTCATA	0.448																																						uc002yno.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(538-540)AGC>ATC		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						215.0	206.0	209.0					21																	31062053		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31062053C>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.539G>T	21.37:g.31062053C>A	ENSP00000382791:p.Ser180Ile					GRIK1_uc002ynn.2_Missense_Mutation_p.S180I|GRIK1_uc011acs.1_Missense_Mutation_p.S180I|GRIK1_uc011act.1_Missense_Mutation_p.S124I|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.S180I	p.S180I	NM_000830	NP_000821	P39086	GRIK1_HUMAN			3	1003	-			180			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.539G>T	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775312	0.70107	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.02	4.06	0.47325	Extracellular ligand-binding receptor (1);	0.242675	0.49916	D	0.000139	D	0.89784	0.6815	M	0.71581	2.175	0.46203	D	0.998924	D;D;D;D;D	0.63046	0.992;0.991;0.991;0.984;0.98	P;P;P;P;P	0.60068	0.868;0.868;0.868;0.8;0.792	D	0.90746	0.4653	10	0.87932	D	0	.	13.6842	0.62506	0.0:0.9125:0.0:0.0875	.	180;180;180;180;180	E7EPY9;E9PD61;B7Z3V7;P39086;P39086-2	.;.;.;GRIK1_HUMAN;.	I	180;180;180;180;180;124;180;180;180;180	ENSP00000327687:S180I;ENSP00000373777:S180I;ENSP00000382797:S180I;ENSP00000382798:S180I;ENSP00000446326:S180I;ENSP00000373776:S180I;ENSP00000382791:S180I;ENSP00000382793:S180I;ENSP00000311646:S180I	ENSP00000311646:S180I	S	-	2	0	GRIK1	29983924	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.238000	0.43070	2.594000	0.87642	0.655000	0.94253	AGC		PASS	0.448	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			95	227	95	227	---	---	---	---
KRTAP13-2	337959	broad.mit.edu	37	21	31744209	31744209	+	Missense_Mutation	SNP	C	C	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr21:31744209C>G	ENST00000399889.2	-	1	348	c.323G>C	c.(322-324)cGc>cCc	p.R108P		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	108						intermediate filament (GO:0005882)		p.R108P(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GCCCAGGGAGCGGCAGCTGCT	0.607																																						uc002ynz.3																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)CGC>CCC		keratin associated protein 13-2							48.0	49.0	48.0					21																	31744209		2203	4300	6503	SO:0001583	missense	337959					intermediate filament		g.chr21:31744209C>G	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.323G>C	21.37:g.31744209C>G	ENSP00000382777:p.Arg108Pro						p.R108P	NM_181621	NP_853652	Q52LG2	KR132_HUMAN			1	349	-			108						Missense_Mutation	SNP	ENST00000399889.2	37	c.323G>C	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	C	5.932	0.355994	0.11239	.	.	ENSG00000182816	ENST00000399889	T	0.03468	3.92	4.48	1.15	0.20763	.	1.529090	0.04771	N	0.427941	T	0.08088	0.0202	L	0.49513	1.565	0.09310	N	1	P	0.50819	0.939	P	0.52793	0.709	T	0.26155	-1.0111	10	0.36615	T	0.2	.	3.7238	0.08467	0.0:0.5126:0.1994:0.288	.	108	Q52LG2	KR132_HUMAN	P	108	ENSP00000382777:R108P	ENSP00000382777:R108P	R	-	2	0	KRTAP13-2	30666080	0.000000	0.05858	0.001000	0.08648	0.695000	0.40330	-1.349000	0.02627	0.068000	0.16574	-0.251000	0.11542	CGC		PASS	0.607	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1			32	34	32	34	---	---	---	---
KRTAP10-12	386685	broad.mit.edu	37	21	46117425	46117425	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr21:46117425C>A	ENST00000400365.3	+	1	339	c.309C>A	c.(307-309)gcC>gcA	p.A103A	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	103	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.A103A(1)		large_intestine(1)|lung(8)	9						GCCAGCAGGCCTGCTGCGTGC	0.647																																						uc002zfw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(307-309)GCC>GCA		keratin associated protein 10-12							76.0	81.0	79.0					21																	46117425		2203	4297	6500	SO:0001819	synonymous_variant	386685					keratin filament		g.chr21:46117425C>A	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.309C>A	21.37:g.46117425C>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.A103A	NM_198699	NP_941972	P60413	KR10C_HUMAN			1	339	+			103			19 X 5 AA repeats of C-C-X(3).		B2RPA3	Silent	SNP	ENST00000400365.3	37	c.309C>A	CCDS42967.1																																																																																				PASS	0.647	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699		76	117	76	117	---	---	---	---
CECR5	27440	broad.mit.edu	37	22	17619552	17619552	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:17619552C>A	ENST00000336737.4	-	7	848	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000155674.5_Missense_Mutation_p.G245C	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	275						mitochondrion (GO:0005739)		p.G275C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				CCCATCAGGCCCTCGTATCTC	0.602																																						uc002zmf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)GGC>TGC		cat eye syndrome chromosome region, candidate 5							208.0	198.0	201.0					22																	17619552		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17619552C>A	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.823G>T	22.37:g.17619552C>A	ENSP00000337358:p.Gly275Cys					CECR5_uc002zmd.2_Missense_Mutation_p.G86C|CECR5_uc002zme.2_Missense_Mutation_p.G67C|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.G245C	p.G275C	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			7	851	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	275					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.823G>T	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611946	0.87258	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.22134	1.97;1.97	4.73	4.73	0.59995	HAD-like domain (1);	0.102497	0.64402	D	0.000003	T	0.43211	0.1237	M	0.62723	1.935	0.80722	D	1	B;D;D	0.76494	0.055;0.996;0.999	B;P;D	0.67382	0.055;0.827;0.951	T	0.19943	-1.0290	10	0.39692	T	0.17	-15.0256	17.8919	0.88875	0.0:1.0:0.0:0.0	.	245;275;139	Q9BXW7-2;Q9BXW7;B3KVW8	.;CECR5_HUMAN;.	C	245;275	ENSP00000155674:G245C;ENSP00000337358:G275C	ENSP00000155674:G245C	G	-	1	0	CECR5	15999552	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	7.202000	0.77856	2.451000	0.82905	0.549000	0.68633	GGC		PASS	0.602	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		120	147	120	147	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21075678	21075678	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:21075678C>A	ENST00000572273.1	-	43	5080	c.4850G>T	c.(4849-4851)tGg>tTg	p.W1617L	AC007308.6_ENST00000430719.1_RNA|PI4KA_ENST00000255882.6_Missense_Mutation_p.W1675L|PI4KA_ENST00000414196.3_Missense_Mutation_p.W427L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1617	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.W1617L(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGACGCTGCCCACAGAATATA	0.537																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(4849-4851)TGG>TTG		phosphatidylinositol 4-kinase type 3 alpha							127.0	118.0	121.0					22																	21075678		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21075678C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4850G>T	22.37:g.21075678C>A	ENSP00000458238:p.Trp1617Leu					PI4KA_uc010gsp.2_Missense_Mutation_p.W10L|PI4KA_uc002zsy.3_Missense_Mutation_p.W427L	p.W1617L	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		43	5081	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1617					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.4850G>T		.	.	.	.	.	.	.	.	.	.	C	13.67	2.307291	0.40795	.	.	ENSG00000241973	ENST00000255882;ENST00000414196;ENST00000399213	T;T	0.62941	-0.01;-0.01	5.12	5.12	0.69794	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.054164	0.85682	D	0.000000	T	0.54663	0.1872	L	0.41236	1.265	0.80722	D	1	B;B	0.28258	0.001;0.205	B;B	0.30029	0.022;0.11	T	0.50915	-0.8771	10	0.13108	T	0.6	-11.76	18.5538	0.91075	0.0:1.0:0.0:0.0	.	10;1617	A8MTF1;P42356	.;PI4KA_HUMAN	L	1617;427;10	ENSP00000402981:W427L;ENSP00000382162:W10L	ENSP00000255882:W1617L	W	-	2	0	PI4KA	19405678	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.627000	0.83176	2.389000	0.81357	0.591000	0.81541	TGG		PASS	0.537	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		55	73	55	73	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21096529	21096529	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:21096529C>A	ENST00000572273.1	-	32	3784	c.3554G>T	c.(3553-3555)gGa>gTa	p.G1185V	PI4KA_ENST00000255882.6_Missense_Mutation_p.G1243V			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1185					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.G1185V(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CACTTCCACTCCATCCTTGCC	0.617											OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(3553-3555)GGA>GTA		phosphatidylinositol 4-kinase type 3 alpha							90.0	98.0	96.0					22																	21096529		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21096529C>A	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3554G>T	22.37:g.21096529C>A	ENSP00000458238:p.Gly1185Val		OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	745		p.G1185V	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		32	3785	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1185					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.3554G>T		.	.	.	.	.	.	.	.	.	.	C	15.99	2.994286	0.54041	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.03	3.99	0.46301	.	0.051558	0.85682	D	0.000000	T	0.62368	0.2422	M	0.63428	1.95	0.80722	D	1	D	0.53745	0.962	P	0.48488	0.579	T	0.67313	-0.5702	9	0.52906	T	0.07	-11.0466	15.363	0.74496	0.0:0.86:0.14:0.0	.	1185	P42356	PI4KA_HUMAN	V	1185	.	ENSP00000255882:G1185V	G	-	2	0	PI4KA	19426529	1.000000	0.71417	0.552000	0.28243	0.231000	0.25187	5.605000	0.67634	1.313000	0.45069	0.591000	0.81541	GGA		PASS	0.617	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		85	75	85	75	---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24487755	24487755	+	Silent	SNP	C	C	A	rs267606190		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:24487755C>A	ENST00000398319.2	+	24	4129	c.3744C>A	c.(3742-3744)atC>atA	p.I1248I	CABIN1_ENST00000405822.2_Silent_p.I1198I|CABIN1_ENST00000263119.5_Silent_p.I1248I	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1248					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.I1248I(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAAGAAGATCCACTACCACA	0.627																																						uc002zzi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(3742-3744)ATC>ATA		calcineurin binding protein 1							68.0	63.0	65.0					22																	24487755		2203	4300	6503	SO:0001819	synonymous_variant	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24487755C>A	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3744C>A	22.37:g.24487755C>A						CABIN1_uc002zzj.1_Silent_p.I1198I|CABIN1_uc002zzl.1_Silent_p.I1248I	p.I1248I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			24	3871	+			1248					G5E9F3|Q6PHY0|Q9Y460	Silent	SNP	ENST00000398319.2	37	c.3744C>A	CCDS13823.1																																																																																				PASS	0.627	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		48	72	48	72	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26423607	26423607	+	Missense_Mutation	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:26423607A>T	ENST00000407587.2	+	43	7839	c.7670A>T	c.(7669-7671)gAt>gTt	p.D2557V	MYO18B_ENST00000335473.7_Missense_Mutation_p.D2556V|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2556V			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2556						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D2557V(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAAGACGACGATGTTGCGAGC	0.552																																						uc003abz.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(7666-7668)GAT>GTT		myosin XVIIIB							53.0	53.0	53.0					22																	26423607		1959	4139	6098	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26423607A>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.7670A>T	22.37:g.26423607A>T	ENSP00000386096:p.Asp2557Val					MYO18B_uc003aca.1_Missense_Mutation_p.D2437V|MYO18B_uc010guy.1_Missense_Mutation_p.D2438V|MYO18B_uc010guz.1_Missense_Mutation_p.D2436V|MYO18B_uc011aka.1_Missense_Mutation_p.D1710V|MYO18B_uc011akb.1_Missense_Mutation_p.D2069V|MYO18B_uc010gva.1_Missense_Mutation_p.D539V|MYO18B_uc010gvb.1_RNA	p.D2556V	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			43	7917	+			2556					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.7667A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.18|11.18	1.562867|1.562867	0.27915|0.27915	.|.	.|.	ENSG00000133454|ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587|ENST00000543971	D;D;D|.	0.90069|.	-2.59;-2.59;-2.61|.	4.44|4.44	2.29|2.29	0.28610|0.28610	.|.	0.085619|.	0.39985|.	N|.	0.001218|.	T|T	0.55862|0.55862	0.1947|0.1947	L|L	0.54323|0.54323	1.7|1.7	0.52501|0.52501	D|D	0.999954|0.999954	P;P;P;P;P|.	0.52842|.	0.867;0.926;0.926;0.956;0.956|.	B;P;P;P;P|.	0.51016|.	0.408;0.454;0.454;0.656;0.656|.	T|T	0.50030|0.50030	-0.8875|-0.8875	10|5	0.87932|.	D|.	0|.	.|.	6.277|6.277	0.20987|0.20987	0.7472:0.1638:0.089:0.0|0.7472:0.1638:0.089:0.0	.|.	2069;2558;2556;2557;2556|.	Q8IUG5-2;B0QYF5;Q8IUG5;F5GXR6;F5GYU7|.	.;.;MY18B_HUMAN;.;.|.	V|L	2556;2556;2557|506	ENSP00000441229:D2556V;ENSP00000334563:D2556V;ENSP00000386096:D2557V|.	ENSP00000334563:D2556V|.	D|M	+|+	2|1	0|0	MYO18B|MYO18B	24753607|24753607	0.995000|0.995000	0.38212|0.38212	0.040000|0.040000	0.18447|0.18447	0.005000|0.005000	0.04900|0.04900	3.515000|3.515000	0.53429|0.53429	0.789000|0.789000	0.33779|0.33779	0.459000|0.459000	0.35465|0.35465	GAT|ATG		PASS	0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		16	9	16	9	---	---	---	---
MTMR3	8897	broad.mit.edu	37	22	30398972	30398972	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:30398972G>T	ENST00000401950.2	+	9	1003	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F	MTMR3_ENST00000333027.3_Missense_Mutation_p.V221F|MTMR3_ENST00000351488.3_Missense_Mutation_p.V221F|MTMR3_ENST00000406629.1_Missense_Mutation_p.V221F|MTMR3_ENST00000323630.5_Missense_Mutation_p.V85F	NM_021090.3	NP_066576.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	221	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.		V -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.V221L(1)|p.V221F(1)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CATCCCTGCCGTCATCTACAG	0.532																																						uc003agv.3																			2	Substitution - Missense(2)	p.V221L(1)	lung(1)|breast(1)	breast(3)|ovary(1)|skin(1)	5						c.(661-663)GTC>TTC		myotubularin-related protein 3 isoform c							79.0	72.0	74.0					22																	30398972		2203	4300	6503	SO:0001583	missense	8897				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr22:30398972G>T	U58034	CCDS13870.1, CCDS13871.1, CCDS46682.1	22q12.2	2011-06-09			ENSG00000100330	ENSG00000100330		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7451	protein-coding gene	gene with protein product		603558				8640223, 9736772	Standard	NM_153050		Approved	KIAA0371, ZFYVE10, FYVE-DSP1	uc003agv.4	Q13615	OTTHUMG00000151278	ENST00000401950.2:c.661G>T	22.37:g.30398972G>T	ENSP00000384651:p.Val221Phe					MTMR3_uc003agu.3_Missense_Mutation_p.V221F|MTMR3_uc003agw.3_Missense_Mutation_p.V221F	p.V221F	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)		9	989	+			221		V -> L (in a breast cancer sample; somatic mutation).	Myotubularin phosphatase.		A5PL26|A7MD32|Q9NYN5|Q9NYN6|Q9UDX6|Q9UEG3	Missense_Mutation	SNP	ENST00000401950.2	37	c.661G>T	CCDS13870.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091718	0.76756	.	.	ENSG00000100330	ENST00000401950;ENST00000333027;ENST00000323630;ENST00000351488;ENST00000406629	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	5.55	5.55	0.83447	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.000000	0.85682	D	0.000000	D	0.97188	0.9081	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.97684	1.0174	10	0.87932	D	0	.	18.5002	0.90878	0.0:0.0:1.0:0.0	.	221;221;221	Q13615-3;Q13615;Q13615-2	.;MTMR3_HUMAN;.	F	221;221;85;221;221	ENSP00000384651:V221F;ENSP00000331649:V221F;ENSP00000318070:V85F;ENSP00000307271:V221F;ENSP00000384077:V221F	ENSP00000318070:V85F	V	+	1	0	MTMR3	28728972	1.000000	0.71417	0.135000	0.22099	0.426000	0.31534	9.397000	0.97276	2.624000	0.88883	0.467000	0.42956	GTC		PASS	0.532	MTMR3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322066.1	NM_021090		21	22	21	22	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	34046499	34046499	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:34046499C>A	ENST00000354992.2	-	4	833	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C	LARGE_ENST00000397394.2_Missense_Mutation_p.G88C|LARGE_ENST00000337431.2_Missense_Mutation_p.G88C|LARGE_ENST00000402320.1_Missense_Mutation_p.G88C|LARGE_ENST00000437602.2_Missense_Mutation_p.G88C	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	88					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.G88C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GGGGCTCGGCCCTGGGCCAGG	0.697																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(262-264)GGC>TGC		like-glycosyltransferase							49.0	46.0	47.0					22																	34046499		2203	4300	6503	SO:0001583	missense	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046499C>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.262G>T	22.37:g.34046499C>A	ENSP00000347088:p.Gly88Cys					LARGE_uc003ane.3_Missense_Mutation_p.G88C|LARGE_uc010gwp.2_Missense_Mutation_p.G88C|LARGE_uc011ame.1_Missense_Mutation_p.G20C|LARGE_uc011amf.1_Missense_Mutation_p.G88C	p.G88C	NM_004737	NP_004728	O95461	LARGE_HUMAN			4	841	-		Lung NSC(1;0.219)	88			Lumenal (Potential).|Potential.		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	ENST00000354992.2	37	c.262G>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631027	0.67015	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000437602;ENST00000430220;ENST00000413114;ENST00000434071	T;T;T;T;T;T;T;T	0.53423	1.11;1.1;1.11;1.1;0.62;1.43;1.41;1.41	5.73	4.65	0.58169	.	0.302038	0.36778	N	0.002418	T	0.36386	0.0965	N	0.19112	0.55	0.80722	D	1	B;P;P	0.52463	0.0;0.904;0.953	B;P;B	0.46452	0.001;0.517;0.315	T	0.15925	-1.0420	10	0.56958	D	0.05	3.1257	9.8211	0.40883	0.0:0.8234:0.0:0.1766	.	88;88;88	B7Z2I9;O95461-2;O95461	.;.;LARGE_HUMAN	C	88	ENSP00000347088:G88C;ENSP00000336636:G88C;ENSP00000380549:G88C;ENSP00000385223:G88C;ENSP00000388544:G88C;ENSP00000396277:G88C;ENSP00000415546:G88C;ENSP00000389605:G88C	ENSP00000336636:G88C	G	-	1	0	LARGE	32376499	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	0.812000	0.27211	2.699000	0.92147	0.655000	0.94253	GGC		PASS	0.697	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		8	68	8	68	---	---	---	---
RBFOX2	23543	broad.mit.edu	37	22	36155936	36155936	+	Splice_Site	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:36155936C>A	ENST00000438146.2	-	10	1107	c.1108G>T	c.(1108-1110)Ggt>Tgt	p.G370C	RBFOX2_ENST00000449924.2_Splice_Site_p.G299C|RBFOX2_ENST00000262829.7_Splice_Site_p.G277C|RBFOX2_ENST00000397303.2_Splice_Site_p.G276C|RBFOX2_ENST00000359369.4_Splice_Site_p.G275C|RBFOX2_ENST00000405409.2_Splice_Site_p.G296W|RBFOX2_ENST00000414461.2_Splice_Site_p.G299W|RBFOX2_ENST00000416721.2_Splice_Site_p.G295C	NM_001082578.1|NM_001082579.1	NP_001076047|NP_001076048.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	309	Ala-rich.				dendrite morphogenesis (GO:0048813)|intracellular estrogen receptor signaling pathway (GO:0030520)|mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of cell proliferation (GO:0042127)|regulation of definitive erythrocyte differentiation (GO:0010724)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G296W(1)		endometrium(4)|large_intestine(7)|lung(7)	18						AACGCTTACCCTGGATAGGCG	0.507																																						uc003aon.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1108-1110)GGT>TGT		RNA binding motif protein 9 isoform 5							67.0	71.0	70.0					22																	36155936		2203	4300	6503	SO:0001630	splice_region_variant	23543				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding	g.chr22:36155936C>A	AL009266	CCDS13921.1, CCDS43013.1, CCDS46699.1, CCDS46700.1, CCDS46701.1	22q12-q13	2013-02-12	2010-09-10	2010-09-10	ENSG00000100320	ENSG00000100320		"""RNA binding motif (RRM) containing"""	9906	protein-coding gene	gene with protein product	"""hexaribonucleotide binding protein 2"""	612149	"""RNA binding motif protein 9"""	RBM9			Standard	NM_014309		Approved	HNRBP2, FOX-2, HRNBP2	uc003aon.4	O43251	OTTHUMG00000150585	ENST00000438146.2:c.1109+1G>T	22.37:g.36155936C>A						RBM9_uc003aog.3_Missense_Mutation_p.G276C|RBM9_uc003aol.3_Missense_Mutation_p.G295C|RBM9_uc003aoj.3_Missense_Mutation_p.G299C|RBM9_uc003aok.3_Missense_Mutation_p.G296W|RBM9_uc003aoh.3_Missense_Mutation_p.G299W|RBM9_uc003aom.3_Missense_Mutation_p.G277C|RBM9_uc010gwu.2_Missense_Mutation_p.G275C|RBM9_uc003aoo.3_Missense_Mutation_p.G369C	p.G370C	NM_001082578	NP_001076047	O43251	RFOX2_HUMAN			10	1220	-			309			Ala-rich.		A4F5G8|A8K5Z5|B0QYY8|B0QYY9|Q0PRL5|Q0VH35|Q5TF71|Q6IC09|Q8TD00|Q8WYB1|Q96DZ6|Q96NL7|Q9UGW4|Q9UH33	Missense_Mutation	SNP	ENST00000438146.2	37	c.1108G>T	CCDS43013.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.94|19.94	3.919461|3.919461	0.73098|0.73098	.|.	.|.	ENSG00000100320|ENSG00000100320	ENST00000338644;ENST00000449924;ENST00000262829;ENST00000397303;ENST00000359369;ENST00000416721;ENST00000438146|ENST00000405409;ENST00000414461	T;T;T;T;T|T;T	0.56444|0.42131	0.5;0.78;0.68;0.77;0.46|1.09;0.98	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.68705|0.68705	0.3030|0.3030	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|D;D	0.89917|0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0|1.0;1.0	D;D;D;D;D;D;D|D;D	0.97110|0.80764	1.0;1.0;1.0;1.0;1.0;0.997;0.995|0.991;0.994	T|T	0.72421|0.72421	-0.4299|-0.4299	9|9	0.87932|0.87932	D|D	0|0	.|.	19.519|19.519	0.95177|0.95177	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	275;369;370;277;295;299;276|296;299	B0QYY4;O43251-6;O43251-8;O43251-3;O43251-5;O43251-10;B0QYV1|O43251-9;O43251-4	.;.;.;.;.;.;.|.;.	C|W	305;299;277;276;275;295;370|296;299	ENSP00000391670:G299C;ENSP00000380470:G276C;ENSP00000352328:G275C;ENSP00000405651:G295C;ENSP00000413035:G370C|ENSP00000384944:G296W;ENSP00000407855:G299W	ENSP00000262829:G277C|ENSP00000384944:G296W	G|G	-|-	1|1	0|0	RBFOX2|RBFOX2	34485882|34485882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.625000|7.625000	0.83145|0.83145	2.623000|2.623000	0.88846|0.88846	0.467000|0.467000	0.42956|0.42956	GGT|GGG		PASS	0.507	RBFOX2-005	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319299.3		Missense_Mutation	26	44	26	44	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36702581	36702581	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:36702581C>T	ENST00000216181.5	-	16	2146	c.1916G>A	c.(1915-1917)cGg>cAg	p.R639Q		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	639	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.R639Q(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CATGCCCTTCCGCGTCTTGAA	0.617			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(1915-1917)CGG>CAG		myosin, heavy polypeptide 9, non-muscle							102.0	80.0	88.0					22																	36702581		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36702581C>T		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1916G>A	22.37:g.36702581C>T	ENSP00000216181:p.Arg639Gln					MYH9_uc003aph.1_Missense_Mutation_p.R503Q	p.R639Q	NM_002473	NP_002464	P35579	MYH9_HUMAN			16	2147	-			639			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.1916G>A	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	35	5.485979	0.96323	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	D	0.87334	-2.24	5.27	5.27	0.74061	Myosin head, motor domain (2);	0.053065	0.64402	D	0.000001	D	0.92351	0.7573	M	0.67953	2.075	0.80722	D	1	D	0.76494	0.999	D	0.63381	0.914	D	0.92920	0.6354	10	0.87932	D	0	.	19.2473	0.93908	0.0:1.0:0.0:0.0	.	639	P35579	MYH9_HUMAN	Q	503;639	ENSP00000216181:R639Q	ENSP00000216181:R639Q	R	-	2	0	MYH9	35032527	1.000000	0.71417	0.978000	0.43139	0.942000	0.58702	6.047000	0.71038	2.627000	0.88993	0.561000	0.74099	CGG		PASS	0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		16	26	16	26	---	---	---	---
FAM118A	55007	broad.mit.edu	37	22	45731235	45731235	+	Silent	SNP	T	T	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:45731235T>A	ENST00000216214.3	+	8	1776	c.942T>A	c.(940-942)gcT>gcA	p.A314A	FAM118A_ENST00000441876.2_Silent_p.A314A|FAM118A_ENST00000405548.3_Silent_p.A132A	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	314						integral component of membrane (GO:0016021)		p.A314A(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CTTCAGATGCTGATCGCGTGG	0.517																																						uc003bfz.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(940-942)GCT>GCA		hypothetical protein LOC55007							265.0	207.0	227.0					22																	45731235		2203	4300	6503	SO:0001819	synonymous_variant	55007					integral to membrane		g.chr22:45731235T>A	BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.942T>A	22.37:g.45731235T>A						FAM118A_uc003bga.3_Silent_p.A314A|FAM118A_uc011aqr.1_Silent_p.A132A	p.A314A	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	8	1558	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	314					B3KWG4|B4DY02|Q5TII5|Q96CY3	Silent	SNP	ENST00000216214.3	37	c.942T>A	CCDS14065.1																																																																																				PASS	0.517	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911		29	73	29	73	---	---	---	---
ATXN10	25814	broad.mit.edu	37	22	46088935	46088935	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:46088935T>C	ENST00000252934.5	+	3	633	c.368T>C	c.(367-369)gTg>gCg	p.V123A	ATXN10_ENST00000381061.4_Missense_Mutation_p.V59A|ATXN10_ENST00000498009.1_3'UTR	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	123					cell death (GO:0008219)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.V123A(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		GAACTGCGAGTGGAACAGGAA	0.338																																						uc003bgm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)	2						c.(367-369)GTG>GCG		ataxin 10							155.0	149.0	151.0					22																	46088935		2203	4300	6503	SO:0001583	missense	25814				cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		g.chr22:46088935T>C	AK095309	CCDS14070.1, CCDS54540.1	22q13	2013-02-15	2004-08-12	2004-08-12	ENSG00000130638	ENSG00000130638		"""Ataxins"""	10549	protein-coding gene	gene with protein product		611150	"""spinocerebellar ataxia 10"""	SCA10		9973298	Standard	NM_013236		Approved	E46L, FLJ37990	uc003bgm.2	Q9UBB4	OTTHUMG00000150451	ENST00000252934.5:c.368T>C	22.37:g.46088935T>C	ENSP00000252934:p.Val123Ala					ATXN10_uc011aqt.1_Missense_Mutation_p.V59A|ATXN10_uc003bgn.1_5'UTR	p.V123A	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)	3	625	+		Ovarian(80;0.00973)|all_neural(38;0.0417)	123					A6NLC4|B4DG05|O14998|O15009|Q6I9X4	Missense_Mutation	SNP	ENST00000252934.5	37	c.368T>C	CCDS14070.1	.	.	.	.	.	.	.	.	.	.	T	14.07	2.426585	0.43020	.	.	ENSG00000130638	ENST00000381061;ENST00000252934;ENST00000396011	T;T	0.49139	0.79;0.79	5.69	2.39	0.29439	Armadillo-like helical (1);Armadillo-type fold (1);	0.923906	0.09298	N	0.821334	T	0.31575	0.0801	N	0.19112	0.55	0.23277	N	0.997994	B;B	0.27229	0.04;0.172	B;B	0.24006	0.009;0.05	T	0.22661	-1.0210	10	0.49607	T	0.09	-10.2417	7.6256	0.28210	0.0:0.2466:0.0:0.7534	.	59;123	A6NLC4;Q9UBB4	.;ATX10_HUMAN	A	59;123;123	ENSP00000370449:V59A;ENSP00000252934:V123A	ENSP00000252934:V123A	V	+	2	0	ATXN10	44467599	0.410000	0.25376	0.976000	0.42696	0.957000	0.61999	0.112000	0.15479	0.982000	0.38575	0.533000	0.62120	GTG		PASS	0.338	ATXN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318142.2	NM_013236		4	62	4	62	---	---	---	---
BRD1	23774	broad.mit.edu	37	22	50191604	50191604	+	Silent	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr22:50191604A>G	ENST00000216267.8	-	5	2433	c.1947T>C	c.(1945-1947)taT>taC	p.Y649Y	BRD1_ENST00000457780.2_Silent_p.Y649Y|BRD1_ENST00000404760.1_Silent_p.Y649Y|BRD1_ENST00000542442.1_Silent_p.Y337Y|BRD1_ENST00000342989.5_Silent_p.Y244Y|BRD1_ENST00000404034.1_Silent_p.Y649Y	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	649	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)	p.Y649Y(1)|p.Y244Y(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CCGCGGCTCTATAGAACACGG	0.537																																						uc003biv.2																			2	Substitution - coding silent(2)		lung(2)	pancreas(1)	1						c.(1945-1947)TAT>TAC		bromodomain containing protein 1							88.0	81.0	83.0					22																	50191604		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50191604A>G	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.1947T>C	22.37:g.50191604A>G						BRD1_uc011arf.1_Silent_p.Y244Y|BRD1_uc011arg.1_Silent_p.Y698Y|BRD1_uc011arh.1_Silent_p.Y649Y|BRD1_uc003biu.3_Silent_p.Y649Y	p.Y649Y	NM_014577	NP_055392	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	5	2434	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	649			Bromo.		A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.1947T>C	CCDS14080.1																																																																																				PASS	0.537	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		38	26	38	26	---	---	---	---
PRKX	5613	broad.mit.edu	37	X	3544547	3544547	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:3544547G>A	ENST00000262848.5	-	5	1082	c.728C>T	c.(727-729)cCg>cTg	p.P243L	PRKX_ENST00000425240.1_5'UTR	NM_005044.4	NP_005035.1	P51817	PRKX_HUMAN	protein kinase, X-linked	243	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial tube morphogenesis (GO:0060562)|kidney morphogenesis (GO:0060993)|myeloid cell differentiation (GO:0030099)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of epithelial cell differentiation involved in kidney development (GO:2000696)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)	p.P243L(1)		kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				ATCAAAAAACGGAGGAAACCT	0.373																																						uc010nde.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)	3						c.(727-729)CCG>CTG		protein kinase, X-linked							111.0	95.0	100.0					X																	3544547		2203	4300	6503	SO:0001583	missense	5613						ATP binding|cAMP-dependent protein kinase activity	g.chrX:3544547G>A		CCDS14125.1	Xp22.3	2008-08-01			ENSG00000183943	ENSG00000183943	2.7.11.1		9441	protein-coding gene	gene with protein product		300083				7633447	Standard	NM_005044		Approved	PKX1	uc010nde.3	P51817	OTTHUMG00000021087	ENST00000262848.5:c.728C>T	X.37:g.3544547G>A	ENSP00000262848:p.Pro243Leu						p.P243L	NM_005044	NP_005035	P51817	PRKX_HUMAN			5	1095	-		all_lung(23;0.000396)|Lung NSC(23;0.00123)	243			Protein kinase.			Missense_Mutation	SNP	ENST00000262848.5	37	c.728C>T	CCDS14125.1	.	.	.	.	.	.	.	.	.	.	G	14.22	2.468934	0.43839	.	.	ENSG00000183943	ENST00000262848	T	0.13901	2.55	3.47	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.39572	0.1083	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.44003	-0.9356	10	0.87932	D	0	-6.6228	12.0899	0.53719	0.0:0.0:1.0:0.0	.	243	P51817	PRKX_HUMAN	L	243	ENSP00000262848:P243L	ENSP00000262848:P243L	P	-	2	0	PRKX	3554547	1.000000	0.71417	0.947000	0.38551	0.350000	0.29205	6.948000	0.75965	1.374000	0.46228	0.529000	0.55759	CCG		PASS	0.373	PRKX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055659.1	NM_005044		28	8	28	8	---	---	---	---
NLGN4X	57502	broad.mit.edu	37	X	5811062	5811062	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:5811062G>A	ENST00000381095.3	-	6	2874	c.2247C>T	c.(2245-2247)caC>caT	p.H749H	NLGN4X_ENST00000275857.6_Silent_p.H749H|NLGN4X_ENST00000381092.1_Silent_p.H749H|NLGN4X_ENST00000538097.1_Silent_p.H749H|NLGN4X_ENST00000381093.2_Silent_p.H769H	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	749					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)	p.H749H(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCAGTGTGTCGTGTGCCTGCA	0.547													G|||	1	0.000264901	0.0	0.0	3775	,	,		13854	0.0		0.0	False		,,,				2504	0.001					uc010ndh.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)|ovary(1)	4						c.(2245-2247)CAC>CAT		X-linked neuroligin 4 precursor							230.0	170.0	190.0					X																	5811062		2203	4300	6503	SO:0001819	synonymous_variant	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5811062G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2247C>T	X.37:g.5811062G>A						NLGN4X_uc004crp.2_Silent_p.H769H|NLGN4X_uc004crq.2_Silent_p.H749H|NLGN4X_uc010ndi.2_Silent_p.H786H|NLGN4X_uc004crr.2_Silent_p.H749H|NLGN4X_uc010ndj.2_Silent_p.H749H	p.H749H	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN			6	2748	-			749			Cytoplasmic (Potential).		Q6UX10|Q9ULG0	Silent	SNP	ENST00000381095.3	37	c.2247C>T	CCDS14126.1																																																																																				PASS	0.547	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742		14	51	14	51	---	---	---	---
PPEF1	5475	broad.mit.edu	37	X	18845392	18845392	+	Splice_Site	SNP	A	A	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:18845392A>T	ENST00000361511.4	+	19	2244		c.e19-1		PPEF1_ENST00000544635.1_Splice_Site|PPEF1_ENST00000349874.5_Splice_Site|PPEF1_ENST00000543630.1_Splice_Site|PPEF1_ENST00000359763.6_Splice_Site	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1						detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)	p.?(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ATATTCTTTTAGGCCTGATCT	0.418																																						uc004cyq.2																			1	Unknown(1)		lung(1)		0						c.e19-2		protein phosphatase with EF hand calcium-binding							68.0	64.0	65.0					X																	18845392		2203	4300	6503	SO:0001630	splice_region_variant	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18845392A>T	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1751-1A>T	X.37:g.18845392A>T						PPEF1_uc004cyp.2_Splice_Site_p.G556_splice|PPEF1_uc004cyr.2_Splice_Site_p.G522_splice|PPEF1_uc004cys.2_Splice_Site_p.G584_splice|PPEF1_uc011mja.1_Splice_Site_p.G519_splice|PPEF1_uc011mjb.1_Splice_Site_p.G528_splice	p.G584_splice	NM_006240	NP_006231	O14829	PPE1_HUMAN			19	2232	+	Hepatocellular(33;0.183)							A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Splice_Site	SNP	ENST00000361511.4	37	c.1751_splice	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	a	15.97	2.991051	0.54041	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3233	0.60444	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPEF1	18755313	1.000000	0.71417	0.830000	0.32933	0.530000	0.34684	8.390000	0.90175	1.788000	0.52465	0.478000	0.44815	.		PASS	0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	Intron	38	18	38	18	---	---	---	---
IL1RAPL1	11141	broad.mit.edu	37	X	29301304	29301304	+	Missense_Mutation	SNP	A	A	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:29301304A>C	ENST00000378993.1	+	3	1005	c.332A>C	c.(331-333)cAg>cCg	p.Q111P	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.Q111P	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	111	Ig-like C2-type 1.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.Q111P(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						ACATTGCTACAGGACAGTGGT	0.438																																						uc004dby.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)|pancreas(1)	5						c.(331-333)CAG>CCG		interleukin 1 receptor accessory protein-like 1							99.0	85.0	90.0					X																	29301304		2202	4300	6502	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29301304A>C	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.332A>C	X.37:g.29301304A>C	ENSP00000368278:p.Gln111Pro						p.Q111P	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			3	840	+			111			Ig-like C2-type 1.|Extracellular (Potential).		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.332A>C	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991819	0.54041	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.77620	-1.11;-1.11	5.81	5.81	0.92471	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.126247	0.53938	D	0.000042	T	0.72676	0.3490	L	0.45581	1.43	0.39774	D	0.972205	P	0.40302	0.712	B	0.38106	0.265	T	0.76222	-0.3038	10	0.52906	T	0.07	.	14.239	0.65945	1.0:0.0:0.0:0.0	.	111	Q9NZN1	IRPL1_HUMAN	P	111	ENSP00000368278:Q111P;ENSP00000305200:Q111P	ENSP00000305200:Q111P	Q	+	2	0	IL1RAPL1	29211225	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	8.962000	0.93254	1.961000	0.56991	0.486000	0.48141	CAG		PASS	0.438	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		27	26	27	26	---	---	---	---
WAS	7454	broad.mit.edu	37	X	48542368	48542368	+	Silent	SNP	A	A	G			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:48542368A>G	ENST00000376701.4	+	1	201	c.126A>G	c.(124-126)aaA>aaG	p.K42K	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	42	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)	p.K42K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				TTGGACGAAAATGCTTGGTGA	0.622			"""Mis, N, F, S"""			lymphoma																																uc004dkm.3				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	Mis|N|F|S	Wiskott-Aldrich syndrome			L		lymphoma			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(124-126)AAA>AAG		Wiskott-Aldrich syndrome protein							101.0	81.0	88.0					X																	48542368		2203	4300	6503	SO:0001819	synonymous_variant	7454	Wiskott-Aldrich_syndrome			blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48542368A>G	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.126A>G	X.37:g.48542368A>G							p.K42K	NM_000377	NP_000368	P42768	WASP_HUMAN			1	183	+		all_lung(315;1.27e-10)	42			WH1.		Q9BU11|Q9UNJ9	Silent	SNP	ENST00000376701.4	37	c.126A>G	CCDS14303.1																																																																																				PASS	0.622	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		43	26	43	26	---	---	---	---
GAGE10	643832	broad.mit.edu	37	X	49161385	49161385	+	Missense_Mutation	SNP	A	A	T	rs377736170		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:49161385A>T	ENST00000407599.3	+	2	140	c.47A>T	c.(46-48)tAt>tTt	p.Y16F		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	16								p.Y16F(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CCAAGACTCTATGTAGAGCCC	0.433																																						uc010nir.1																			1	Substitution - Missense(1)		lung(1)		0						c.(46-48)TAT>TTT		G antigen 10							212.0	220.0	217.0					X																	49161385		2203	4300	6503	SO:0001583	missense	643832							g.chrX:49161385A>T			Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.47A>T	X.37:g.49161385A>T	ENSP00000385415:p.Tyr16Phe						p.Y16F	NM_001098413	NP_001091883	A6NGK3	GAG10_HUMAN			2	163	+	Ovarian(276;0.236)		16						Missense_Mutation	SNP	ENST00000407599.3	37	c.47A>T	CCDS43938.1	.	.	.	.	.	.	.	.	.	.	A	7.025	0.559437	0.13436	.	.	ENSG00000215274	ENST00000407599	T	0.10192	2.9	1.2	-0.173	0.13322	.	.	.	.	.	T	0.10508	0.0257	L	0.31664	0.95	0.09310	N	1	D	0.59357	0.985	P	0.55667	0.781	T	0.22208	-1.0223	9	0.15066	T	0.55	.	2.9485	0.05854	0.5948:0.0:0.0:0.4052	.	16	A6NGK3	GAG10_HUMAN	F	16	ENSP00000385415:Y16F	ENSP00000385415:Y16F	Y	+	2	0	GAGE10	49048329	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	0.567000	0.23608	-0.100000	0.12241	0.242000	0.17961	TAT		PASS	0.433	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060816.1	NM_001098413		146	70	146	70	---	---	---	---
FAAH2	158584	broad.mit.edu	37	X	57313335	57313335	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:57313335G>T	ENST00000374900.4	+	1	197	c.77G>T	c.(76-78)cGa>cTa	p.R26L		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	26						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)	p.R26L(1)		endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTAGTAGGCCGAGCAGCTTTA	0.572										HNSCC(52;0.14)																												uc004dvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(76-78)CGA>CTA		fatty acid amide hydrolase 2							41.0	36.0	37.0					X																	57313335		2203	4299	6502	SO:0001583	missense	158584					integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity	g.chrX:57313335G>T	AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	ENST00000374900.4:c.77G>T	X.37:g.57313335G>T	ENSP00000364035:p.Arg26Leu	HNSCC(52;0.14)					p.R26L	NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN			1	226	+			26			Helical; (Potential).		Q86VT2|Q96N98	Missense_Mutation	SNP	ENST00000374900.4	37	c.77G>T	CCDS14375.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.382318	0.00015	.	.	ENSG00000165591	ENST00000374900	T	0.63255	-0.03	1.7	-1.91	0.07641	Amidase signature domain (1);	1.747850	0.03755	U	0.257214	T	0.36441	0.0967	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.14755	-1.0461	10	0.10902	T	0.67	.	5.5011	0.16829	0.5001:0.0:0.4999:0.0	.	26	Q6GMR7	FAAH2_HUMAN	L	26	ENSP00000364035:R26L	ENSP00000364035:R26L	R	+	2	0	FAAH2	57330060	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.796000	0.04575	-0.751000	0.04734	-0.306000	0.09157	CGA		PASS	0.572	FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912		9	12	9	12	---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64137693	64137693	+	Silent	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:64137693G>T	ENST00000374839.3	-	5	751	c.645C>A	c.(643-645)ccC>ccA	p.P215P	ZC4H2_ENST00000337990.2_Silent_p.P192P|ZC4H2_ENST00000545618.1_Silent_p.P210P|ZC4H2_ENST00000447788.2_Missense_Mutation_p.P161Q|ZC4H2_ENST00000488608.1_5'UTR	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	215					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.P215P(1)|p.P161Q(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCGGCTTTTTGGGGTTCCGGG	0.502																																						uc004dvu.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(643-645)CCC>CCA		zinc finger, C4H2 domain containing							158.0	101.0	120.0					X																	64137693		2203	4300	6503	SO:0001819	synonymous_variant	55906						metal ion binding|protein binding	g.chrX:64137693G>T	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.645C>A	X.37:g.64137693G>T						ZC4H2_uc004dvv.2_Silent_p.P192P|ZC4H2_uc011mov.1_Silent_p.P192P|ZC4H2_uc011mow.1_Missense_Mutation_p.P161Q|ZC4H2_uc004dvw.1_3'UTR	p.P215P	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			5	733	-			215					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Silent	SNP	ENST00000374839.3	37	c.645C>A	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444498	0.43429	.	.	ENSG00000126970	ENST00000447788	.	.	.	5.42	3.6	0.41247	.	0.000000	0.85682	D	0.000000	T	0.45458	0.1343	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37709	-0.9694	8	0.66056	D	0.02	.	5.843	0.18645	0.0926:0.0:0.5679:0.3394	.	161	B4DED0	.	Q	161	.	ENSP00000399126:P161Q	P	-	2	0	ZC4H2	64054418	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.184000	0.42575	0.537000	0.28751	0.594000	0.82650	CCA		PASS	0.502	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		19	9	19	9	---	---	---	---
NHSL2	340527	broad.mit.edu	37	X	71359733	71359733	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:71359733C>T	ENST00000373677.1	+	2	2499	c.1237C>T	c.(1237-1239)Ccc>Tcc	p.P413S	NHSL2_ENST00000540800.1_Missense_Mutation_p.P779S|NHSL2_ENST00000510661.1_Missense_Mutation_p.P548S|NHSL2_ENST00000535692.1_Missense_Mutation_p.P413S			Q5HYW2	NHSL2_HUMAN	NHS-like 2	413	Ser-rich.							p.P779S(1)|p.P410S(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GACCTCTTCACCCAACCTGGA	0.507																																						uc011mqa.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2335-2337)CCC>TCC		NHS-like 2							131.0	95.0	108.0					X																	71359733		2203	4300	6503	SO:0001583	missense	340527							g.chrX:71359733C>T			Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.1237C>T	X.37:g.71359733C>T	ENSP00000362781:p.Pro413Ser					NHSL2_uc004eak.1_Missense_Mutation_p.P413S|NHSL2_uc010nli.2_Missense_Mutation_p.P548S	p.P779S	NM_001013627	NP_001013649	Q5HYW2	NHSL2_HUMAN			6	2335	+	Renal(35;0.156)		779					B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37	c.2335C>T		.	.	.	.	.	.	.	.	.	.	C	2.185	-0.386569	0.04966	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.41065	1.6;1.03;1.01;1.03	5.75	-7.06	0.01568	.	0.582601	0.17857	N	0.159669	T	0.13713	0.0332	N	0.01874	-0.695	0.09310	N	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.13407	0.009;0.006;0.006	T	0.13710	-1.0499	10	0.48119	T	0.1	0.0287	10.1712	0.42911	0.2485:0.2101:0.5413:0.0	.	779;548;413	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	S	779;413;548;413	ENSP00000444617:P779S;ENSP00000362781:P413S;ENSP00000424079:P548S;ENSP00000444914:P413S	ENSP00000362781:P413S	P	+	1	0	NHSL2	71276458	0.000000	0.05858	0.003000	0.11579	0.820000	0.46376	-0.331000	0.07914	-1.658000	0.01490	-1.090000	0.02178	CCC		PASS	0.507	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627		27	20	27	20	---	---	---	---
POF1B	79983	broad.mit.edu	37	X	84563147	84563147	+	Missense_Mutation	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:84563147G>A	ENST00000262753.4	-	10	1178	c.1033C>T	c.(1033-1035)Ctt>Ttt	p.L345F	POF1B_ENST00000373145.3_Missense_Mutation_p.L345F	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	345						tight junction (GO:0005923)		p.L345F(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TCATTTTGAAGATGTCCAAGC	0.368																																						uc004eer.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1033-1035)CTT>TTT		premature ovarian failure, 1B							86.0	76.0	79.0					X																	84563147		2203	4300	6503	SO:0001583	missense	79983						actin binding	g.chrX:84563147G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1033C>T	X.37:g.84563147G>A	ENSP00000262753:p.Leu345Phe					POF1B_uc004ees.2_Missense_Mutation_p.L345F	p.L345F	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			10	1179	-			345			Potential.		A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Missense_Mutation	SNP	ENST00000262753.4	37	c.1033C>T	CCDS14452.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082331	0.76528	.	.	ENSG00000124429	ENST00000262753;ENST00000373145	D;D	0.83992	-1.79;-1.79	5.86	5.86	0.93980	.	0.048785	0.85682	D	0.000000	D	0.89560	0.6750	L	0.55481	1.735	0.47374	D	0.999406	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.90120	0.4198	10	0.72032	D	0.01	.	17.7778	0.88515	0.0:0.0:1.0:0.0	.	345;345	Q8WVV4-1;Q8WVV4	.;POF1B_HUMAN	F	345	ENSP00000262753:L345F;ENSP00000362238:L345F	ENSP00000262753:L345F	L	-	1	0	POF1B	84449803	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.010000	0.57117	2.471000	0.83476	0.600000	0.82982	CTT		PASS	0.368	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921		25	11	25	11	---	---	---	---
PCDH19	57526	broad.mit.edu	37	X	99661673	99661673	+	Silent	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:99661673G>A	ENST00000373034.4	-	1	3598	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	PCDH19_ENST00000420881.2_Silent_p.I641I|PCDH19_ENST00000255531.7_Silent_p.I641I	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	641	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I641I(1)|p.I142I(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGCCACCACGATAAGCTCAT	0.572																																						uc010nmz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1921-1923)ATC>ATT		protocadherin 19 isoform b							59.0	61.0	60.0					X																	99661673		2063	4191	6254	SO:0001819	synonymous_variant	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661673G>A	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1923C>T	X.37:g.99661673G>A						PCDH19_uc004efw.3_Silent_p.I641I|PCDH19_uc004efx.3_Silent_p.I641I	p.I641I	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3599	-			641			Cadherin 6.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Silent	SNP	ENST00000373034.4	37	c.1923C>T	CCDS55462.1																																																																																				PASS	0.572	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766		20	13	20	13	---	---	---	---
GPRASP1	9737	broad.mit.edu	37	X	101909538	101909538	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:101909538G>T	ENST00000361600.5	+	5	1498	c.697G>T	c.(697-699)Gct>Tct	p.A233S	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A233S|GPRASP1_ENST00000444152.1_Missense_Mutation_p.A233S|GPRASP1_ENST00000537097.1_Missense_Mutation_p.A233S	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	233					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.A233S(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CAATCAAGAGGCTAATACCAT	0.463																																						uc004ejj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(697-699)GCT>TCT		G protein-coupled receptor associated sorting							163.0	165.0	164.0					X																	101909538		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101909538G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.697G>T	X.37:g.101909538G>T	ENSP00000355146:p.Ala233Ser					GPRASP1_uc004eji.3_Missense_Mutation_p.A233S|GPRASP1_uc010nod.2_Missense_Mutation_p.A233S	p.A233S	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN			5	1498	+			233					O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.697G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569047	0.28003	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	1.66	-0.331	0.12679	.	.	.	.	.	T	0.10294	0.0252	L	0.54323	1.7	0.09310	N	1	P	0.38020	0.615	B	0.40636	0.335	T	0.33214	-0.9877	9	0.14656	T	0.56	-0.0528	5.5824	0.17256	0.3623:0.0:0.6377:0.0	.	233	Q5JY77	GASP1_HUMAN	S	233	ENSP00000393691:A233S;ENSP00000409420:A233S;ENSP00000355146:A233S;ENSP00000445683:A233S	ENSP00000355146:A233S	A	+	1	0	GPRASP1	101796194	0.060000	0.20803	0.001000	0.08648	0.894000	0.52154	0.361000	0.20267	-0.204000	0.10235	0.279000	0.19357	GCT		PASS	0.463	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		107	62	107	62	---	---	---	---
SERPINA7	6906	broad.mit.edu	37	X	105279351	105279351	+	Silent	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:105279351T>C	ENST00000327674.4	-	2	983	c.648A>G	c.(646-648)ccA>ccG	p.P216P	SERPINA7_ENST00000372563.1_Silent_p.P216P|SERPINA7_ENST00000487487.1_5'Flank			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	216					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P216P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CTGTCTTGGATGGATCAAAAG	0.403																																						uc004eme.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(646-648)CCA>CCG		serine (or cysteine) proteinase inhibitor, clade	Levothyroxine(DB00451)|Liothyronine(DB00279)						171.0	153.0	159.0					X																	105279351		2203	4300	6503	SO:0001819	synonymous_variant	6906				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chrX:105279351T>C	M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.648A>G	X.37:g.105279351T>C						SERPINA7_uc010npd.2_Silent_p.P216P|SERPINA7_uc010npe.1_Silent_p.P216P	p.P216P	NM_000354	NP_000345	P05543	THBG_HUMAN			2	664	-			216					D3DUX1	Silent	SNP	ENST00000327674.4	37	c.648A>G	CCDS14518.1																																																																																				PASS	0.403	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057790.1	NM_000354		60	39	60	39	---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117700047	117700047	+	Missense_Mutation	SNP	A	A	T	rs150521474	byFrequency	TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:117700047A>T	ENST00000276202.7	+	8	836	c.773A>T	c.(772-774)cAg>cTg	p.Q258L	DOCK11_ENST00000276204.6_Missense_Mutation_p.Q258L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	258	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q258L(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAAACTGAGCAGGAAATGGAG	0.398																																						uc004eqp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(772-774)CAG>CTG		dedicator of cytokinesis 11							134.0	133.0	134.0					X																	117700047		2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117700047A>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.773A>T	X.37:g.117700047A>T	ENSP00000276202:p.Gln258Leu					DOCK11_uc004eqq.2_Missense_Mutation_p.Q24L	p.Q258L	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			8	836	+			258			PH.		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.773A>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	A	11.93	1.784615	0.31593	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.75477	-0.94;-0.94	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.122676	0.56097	D	0.000029	T	0.57975	0.2090	N	0.12746	0.255	0.53688	D	0.999973	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.01	T	0.53592	-0.8417	10	0.27785	T	0.31	-9.4956	14.3048	0.66377	1.0:0.0:0.0:0.0	.	258;258	A6NIW2;Q5JSL3	.;DOC11_HUMAN	L	258	ENSP00000276204:Q258L;ENSP00000276202:Q258L	ENSP00000276202:Q258L	Q	+	2	0	DOCK11	117584075	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.341000	0.43983	1.837000	0.53436	0.345000	0.21793	CAG		PASS	0.398	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		90	45	90	45	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128709967	128709967	+	Missense_Mutation	SNP	C	C	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:128709967C>T	ENST00000371113.4	+	17	1972	c.1807C>T	c.(1807-1809)Cct>Tct	p.P603S	OCRL_ENST00000357121.5_Missense_Mutation_p.P603S	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	603	ASH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.P603S(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TTCTTTCATCCCTAAACTTAA	0.453																																						uc004euq.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(1807-1809)CCT>TCT		phosphatidylinositol polyphosphate 5-phosphatase							140.0	136.0	137.0					X																	128709967		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128709967C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.1807C>T	X.37:g.128709967C>T	ENSP00000360154:p.Pro603Ser					OCRL_uc004eur.2_Missense_Mutation_p.P603S	p.P603S	NM_000276	NP_000267	Q01968	OCRL_HUMAN			17	1972	+			603					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.1807C>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832250	0.50845	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94497	-3.44;-3.43	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.90089	0.6904	L	0.33668	1.02	0.80722	D	1	B;B	0.27853	0.191;0.005	B;B	0.17098	0.017;0.003	D	0.87332	0.2325	10	0.16896	T	0.51	.	17.6594	0.88188	0.0:1.0:0.0:0.0	.	603;603	Q01968-2;Q01968	.;OCRL_HUMAN	S	603	ENSP00000360154:P603S;ENSP00000349635:P603S	ENSP00000349635:P603S	P	+	1	0	OCRL	128537648	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.759000	0.68785	2.388000	0.81334	0.600000	0.82982	CCT		PASS	0.453	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		62	31	62	31	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135429395	135429395	+	Missense_Mutation	SNP	T	T	C			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:135429395T>C	ENST00000394143.1	+	6	3821	c.3530T>C	c.(3529-3531)gTa>gCa	p.V1177A	GPR112_ENST00000287534.4_Missense_Mutation_p.V1114A|GPR112_ENST00000394141.1_Missense_Mutation_p.V972A|GPR112_ENST00000412101.1_Missense_Mutation_p.V972A|GPR112_ENST00000370652.1_Missense_Mutation_p.V1177A	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1177					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V1177A(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATATCTCAAGTAGAGGAGACT	0.493																																						uc004ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3529-3531)GTA>GCA		G-protein coupled receptor 112							189.0	155.0	166.0					X																	135429395		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429395T>C	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3530T>C	X.37:g.135429395T>C	ENSP00000377699:p.Val1177Ala					GPR112_uc010nsb.1_Missense_Mutation_p.V972A|GPR112_uc010nsc.1_Missense_Mutation_p.V944A	p.V1177A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3821	+	Acute lymphoblastic leukemia(192;0.000127)		1177			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3530T>C	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	T	9.968	1.224782	0.22457	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.37411	1.24;1.24;1.2;1.33;1.2	2.91	-4.25	0.03766	.	.	.	.	.	T	0.15435	0.0372	N	0.24115	0.695	0.09310	N	1	B;B;B	0.31817	0.341;0.002;0.028	B;B;B	0.28139	0.086;0.002;0.011	T	0.29027	-1.0025	9	0.09590	T	0.72	.	3.9484	0.09358	0.0:0.257:0.3687:0.3743	.	1114;972;1177	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	A	1177;1177;972;1114;972	ENSP00000377699:V1177A;ENSP00000359686:V1177A;ENSP00000416526:V972A;ENSP00000287534:V1114A;ENSP00000377697:V972A	ENSP00000287534:V1114A	V	+	2	0	GPR112	135257061	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.311000	0.08124	-1.187000	0.02709	0.430000	0.28490	GTA		PASS	0.493	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			98	36	98	36	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140967084	140967084	+	Missense_Mutation	SNP	G	G	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:140967084G>T	ENST00000298296.1	+	3	382	c.382G>T	c.(382-384)Gac>Tac	p.D128Y	MAGEC3_ENST00000443323.2_5'Flank|MAGEC3_ENST00000448920.1_5'Flank|MAGEC3_ENST00000536088.1_5'Flank	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	128								p.D128Y(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGAACCCCAGGACTGGCCACT	0.547																																						uc011mwp.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(382-384)GAC>TAC		melanoma antigen family C, 3 isoform 1							44.0	39.0	41.0					X																	140967084		2203	4299	6502	SO:0001583	missense	139081							g.chrX:140967084G>T	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.382G>T	X.37:g.140967084G>T	ENSP00000298296:p.Asp128Tyr						p.D128Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN			3	382	+	Acute lymphoblastic leukemia(192;6.56e-05)		128					Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	37	c.382G>T	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	G	10.04	1.241129	0.22711	.	.	ENSG00000165509	ENST00000298296	T	0.09255	3.0	1.69	-1.74	0.08056	.	.	.	.	.	T	0.03739	0.0106	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.38106	0.265	T	0.30149	-0.9988	9	0.52906	T	0.07	.	1.9787	0.03422	0.3934:0.0:0.3442:0.2624	.	128	Q8TD91	MAGC3_HUMAN	Y	128	ENSP00000298296:D128Y	ENSP00000298296:D128Y	D	+	1	0	MAGEC3	140794750	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.244000	0.08903	-0.679000	0.05217	0.418000	0.28097	GAC		PASS	0.547	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		5	9	5	9	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994995	140994995	+	Missense_Mutation	SNP	G	G	T	rs111723844		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:140994995G>T	ENST00000285879.4	+	4	2091	c.1805G>T	c.(1804-1806)gGg>gTg	p.G602V	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	602								p.G602V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCAGGGGGAGGACTCC	0.587										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(1804-1806)GGG>GTG		melanoma antigen family C, 1							206.0	220.0	215.0					X																	140994995		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994995G>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1805G>T	X.37:g.140994995G>T	ENSP00000285879:p.Gly602Val	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.G602V	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2091	+	Acute lymphoblastic leukemia(192;6.56e-05)		602					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1805G>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	12.49	1.953729	0.34471	.	.	ENSG00000155495	ENST00000285879	T	0.02121	4.44	0.96	0.96	0.19631	.	.	.	.	.	T	0.02304	0.0071	N	0.08118	0	0.58432	D	0.999994	D	0.59357	0.985	P	0.53185	0.72	T	0.63386	-0.6649	9	0.87932	D	0	.	7.647	0.28325	1.0E-4:0.0:0.9999:0.0	.	602	O60732	MAGC1_HUMAN	V	602	ENSP00000285879:G602V	ENSP00000285879:G602V	G	+	2	0	MAGEC1	140822661	0.007000	0.16637	0.003000	0.11579	0.004000	0.04260	1.275000	0.33144	0.187000	0.20147	0.190000	0.17370	GGG		PASS	0.587	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		185	116	185	116	---	---	---	---
MIR514A2	574517	broad.mit.edu	37	X	146360842	146360842	+	RNA	SNP	G	G	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:146360842G>A	ENST00000385131.1	-	0	88				MIR514A1_ENST00000385133.1_RNA	NR_030239.1|NR_030240.1				microRNA 514a-2																		CTCCAGAGTAGGGTACCACAG	0.438																																						hsa-mir-514-1|MI0003198																			0					0															50.0	47.0	48.0					X																	146360842		1565	3569	5134			574516							g.chrX:146360842G>A			Xq27.3	2011-11-14	2011-11-14	2011-11-14	ENSG00000207866	ENSG00000207866		"""ncRNAs / Micro RNAs"""	32149	non-coding RNA	RNA, micro			"""microRNA 514-2"""	MIRN514-2, MIR514-2			Standard	NR_030239		Approved	hsa-mir-514-2	uc011mww.2				X.37:g.146360842G>A																-									RNA	SNP	ENST00000385131.1	37	c.21G>A																																																																																					PASS	0.438	MIR514A2-201	KNOWN	basic	miRNA	miRNA		NR_030239		11	6	11	6	---	---	---	---
PNCK	139728	broad.mit.edu	37	X	152936760	152936760	+	Silent	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:152936760C>A	ENST00000370150.1	-	7	772	c.594G>T	c.(592-594)ctG>ctT	p.L198L	PNCK_ENST00000370142.1_Silent_p.L221L|PNCK_ENST00000370145.4_Silent_p.L215L|PNCK_ENST00000475172.1_5'Flank|PNCK_ENST00000393831.2_Silent_p.L221L|PNCK_ENST00000340888.3_Silent_p.L198L|PNCK_ENST00000447676.2_Silent_p.L281L			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	198	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.L215L(1)|p.L198L(1)		breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGACGCCCAGGGCCCACA	0.632																																						uc011myu.1																			2	Substitution - coding silent(2)		lung(2)	breast(1)	1						c.(841-843)CTG>CTT		pregnancy upregulated non-ubiquitously expressed							54.0	57.0	56.0					X																	152936760		2203	4300	6503	SO:0001819	synonymous_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152936760C>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.594G>T	X.37:g.152936760C>A						PNCK_uc011myt.1_Silent_p.L215L|PNCK_uc004fia.2_Silent_p.L233L|PNCK_uc004fhz.3_Silent_p.L96L|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.1_3'UTR|PNCK_uc011myw.1_3'UTR	p.L281L	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN			7	1029	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		198			Protein kinase.		B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Silent	SNP	ENST00000370150.1	37	c.843G>T																																																																																					PASS	0.632	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		37	10	37	10	---	---	---	---
IRAK1	3654	broad.mit.edu	37	X	153279680	153279680	+	Missense_Mutation	SNP	C	C	A			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:153279680C>A	ENST00000369980.3	-	11	1519	c.1352G>T	c.(1351-1353)aGc>aTc	p.S451I	IRAK1_ENST00000393687.2_Missense_Mutation_p.S451I|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000393682.1_Missense_Mutation_p.S477I|IRAK1_ENST00000369974.2_Intron|IRAK1_ENST00000429936.2_Missense_Mutation_p.S477I	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	451	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.S451I(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGGGTGCTTCTCAAAGC	0.597																																						uc004fjs.1																			2	Substitution - Missense(2)		lung(2)	lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(1351-1353)AGC>ATC		interleukin-1 receptor-associated kinase 1							72.0	68.0	69.0					X																	153279680		2203	4300	6503	SO:0001583	missense	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153279680C>A	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1352G>T	X.37:g.153279680C>A	ENSP00000358997:p.Ser451Ile					IRAK1_uc004fjr.1_Missense_Mutation_p.S451I|IRAK1_uc004fjt.1_Intron|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Missense_Mutation_p.S477I	p.S451I	NM_001569	NP_001560	P51617	IRAK1_HUMAN			11	1431	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		451			Protein kinase.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	ENST00000369980.3	37	c.1352G>T	CCDS14740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	13.52|13.52	2.261166|2.261166	0.39995|0.39995	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000444254;ENST00000443220|ENST00000369980;ENST00000393682;ENST00000455690;ENST00000393687;ENST00000429936	.|T;T;T;T	.|0.67698	.|-0.28;-0.28;-0.28;-0.28	5.2|5.2	3.35|3.35	0.38373|0.38373	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.395749	.|0.24681	.|N	.|0.036463	T|T	0.64527|0.64527	0.2606|0.2606	L|L	0.58510|0.58510	1.815|1.815	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48162	.|0.906;0.886	.|P;B	.|0.44860	.|0.462;0.332	T|T	0.58036|0.58036	-0.7707|-0.7707	5|10	.|0.62326	.|D	.|0.03	-12.8122|-12.8122	10.9956|10.9956	0.47573|0.47573	0.0:0.6439:0.3561:0.0|0.0:0.6439:0.3561:0.0	.|.	.|451;451	.|P51617;P51617-2	.|IRAK1_HUMAN;.	N|I	6;199|451;477;31;451;477	.|ENSP00000358997:S451I;ENSP00000377287:S477I;ENSP00000377291:S451I;ENSP00000392662:S477I	.|ENSP00000358997:S451I	K|S	-|-	3|2	2|0	IRAK1|IRAK1	152932874|152932874	0.044000|0.044000	0.20184|0.20184	0.001000|0.001000	0.08648|0.08648	0.024000|0.024000	0.10985|0.10985	0.659000|0.659000	0.24994|0.24994	0.377000|0.377000	0.24735|0.24735	0.529000|0.529000	0.55759|0.55759	AAG|AGC		PASS	0.597	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			81	42	81	42	---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166532979	166532980	+	Frame_Shift_Ins	INS	-	-	T			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr2:166532979_166532980insT	ENST00000342316.4	+	4	838_839	c.566_567insT	c.(565-570)tctggafs	p.G190fs	CSRNP3_ENST00000409420.1_Frame_Shift_Ins_p.G222fs|CSRNP3_ENST00000314499.7_Frame_Shift_Ins_p.G190fs	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	190					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						CTGCGTGCCTCTGGAGTGAAAA	0.49																																						uc002udf.2																			0				ovary(3)|large_intestine(1)|skin(1)	5						c.(565-567)TCTfs		cysteine-serine-rich nuclear protein 3																																				SO:0001589	frameshift_variant	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166532979_166532980insT	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.567dupT	2.37:g.166532980_166532980dupT	ENSP00000344042:p.Gly190fs					CSRNP3_uc002udg.2_Frame_Shift_Ins_p.S189fs	p.S189fs	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN			6	942_943	+			189					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Frame_Shift_Ins	INS	ENST00000342316.4	37	c.566_567insT	CCDS2225.1																																																																																					0.490	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969		101	134	101	134	---	---	---	---
SGK223	157285	broad.mit.edu	37	8	8175875	8175875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:8175875delC	ENST00000520004.1	-	6	4274	c.4010delG	c.(4009-4011)ggcfs	p.G1337fs	SGK223_ENST00000330777.4_Frame_Shift_Del_p.G1337fs			Q86YV5	SG223_HUMAN		1341							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										CTCCGAGGTGCCCGGCTGCTG	0.672																																					GBM(34;731 755 10259 33573 33867)	uc003wsh.3																			0					0						c.(4009-4011)GGCfs		pragmin							58.0	66.0	64.0					8																	8175875		2053	4179	6232	SO:0001589	frameshift_variant	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8175875delC																												ENST00000520004.1:c.4010delG	8.37:g.8175875delC	ENSP00000428054:p.Gly1337fs						p.G1337fs	NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN			5	4010	-			1337					Q8N3N5	Frame_Shift_Del	DEL	ENST00000520004.1	37	c.4010delG	CCDS43706.1																																																																																					0.672	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			144	73	144	73	---	---	---	---
MOS	4342	broad.mit.edu	37	8	57025797	57025797	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr8:57025797delC	ENST00000311923.1	-	1	744	c.745delG	c.(745-747)gagfs	p.E249fs		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	249	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			TTCAGGAGCTCCGGGGCGCGG	0.537																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1																			0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(745-747)GAGfs		v-mos Moloney murine sarcoma viral oncogene							54.0	62.0	59.0					8																	57025797		2203	4300	6503	SO:0001589	frameshift_variant	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025797delC		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.745delG	8.37:g.57025797delC	ENSP00000310722:p.Glu249fs						p.E249fs	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	745	-			249			Protein kinase.		Q3KPG9|Q3KPH0	Frame_Shift_Del	DEL	ENST00000311923.1	37	c.745delG	CCDS6164.1																																																																																					0.537	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1	NM_005372		72	43	72	43	---	---	---	---
HSDL2	84263	broad.mit.edu	37	9	115200823	115200823	+	Frame_Shift_Del	DEL	T	T	-			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr9:115200823delT	ENST00000398805.3	+	7	938	c.711delT	c.(709-711)agtfs	p.S237fs	HSDL2_ENST00000262542.7_Frame_Shift_Del_p.S117fs|HSDL2_ENST00000539114.1_Frame_Shift_Del_p.S32fs|HSDL2_ENST00000398803.1_Frame_Shift_Del_p.S164fs|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	237						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AGCCAAAAAGTTTTACTGGCA	0.343																																						uc004bga.1																			0					0						c.(709-711)AGTfs		hydroxysteroid dehydrogenase like 2							74.0	68.0	70.0					9																	115200823		1824	4081	5905	SO:0001589	frameshift_variant	84263					peroxisome	oxidoreductase activity|sterol binding	g.chr9:115200823delT	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.711delT	9.37:g.115200823delT	ENSP00000381785:p.Ser237fs					HSDL2_uc011lwv.1_Frame_Shift_Del_p.S116fs|HSDL2_uc004bgb.1_Frame_Shift_Del_p.N71fs|HSDL2_uc004bgc.1_Frame_Shift_Del_p.S164fs|HSDL2_uc011lww.1_Frame_Shift_Del_p.S32fs	p.S237fs	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN			7	804	+			237					A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Frame_Shift_Del	DEL	ENST00000398805.3	37	c.711delT	CCDS43864.1																																																																																					0.343	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303		58	78	58	78	---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18690925	18690925	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr10:18690925delC	ENST00000324631.7	+	3	346	c.286delC	c.(286-288)cgcfs	p.R97fs	CACNB2_ENST00000377331.2_Frame_Shift_Del_p.R69fs|CACNB2_ENST00000352115.6_Frame_Shift_Del_p.R97fs|CACNB2_ENST00000377328.1_Frame_Shift_Del_p.R97fs|CACNB2_ENST00000377329.4_Frame_Shift_Del_p.R43fs|CACNB2_ENST00000377315.4_Frame_Shift_Del_p.R49fs|CACNB2_ENST00000377319.3_Frame_Shift_Del_p.R42fs|CACNB2_ENST00000282343.8_Frame_Shift_Del_p.R69fs|CACNB2_ENST00000396576.2_Frame_Shift_Del_p.R42fs	NM_201593.2|NM_201596.2	NP_963887.2|NP_963890.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	97					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|neuromuscular junction development (GO:0007528)|positive regulation of calcium ion transport (GO:0051928)|synaptic transmission (GO:0007268)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|voltage-gated calcium channel complex (GO:0005891)	calcium channel activity (GO:0005262)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Amlodipine(DB00381)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGAGGCAGTGCGCAGAGAAGC	0.532																																						uc001ipr.2																			0				large_intestine(1)|central_nervous_system(1)|skin(1)	3						c.(286-288)CGCfs		calcium channel, voltage-dependent, beta 2	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						73.0	63.0	66.0					10																	18690925		2203	4300	6503	SO:0001589	frameshift_variant	783				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr10:18690925delC	U95019	CCDS7125.1, CCDS7126.1, CCDS7127.1, CCDS7128.1, CCDS7129.1, CCDS41493.1, CCDS41494.1	10p12	2014-09-17			ENSG00000165995	ENSG00000165995		"""Calcium channel subunits"""	1402	protein-coding gene	gene with protein product		600003		MYSB, CACNLB2		9254841, 8494331	Standard	NM_201596		Approved		uc001ipr.2	Q08289	OTTHUMG00000017764	ENST00000324631.7:c.286delC	10.37:g.18690925delC	ENSP00000320025:p.Arg97fs					CACNB2_uc009xjz.1_Frame_Shift_Del_p.R96fs|CACNB2_uc001ips.2_Frame_Shift_Del_p.R96fs|CACNB2_uc001ipt.2_Frame_Shift_Del_p.R96fs|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Frame_Shift_Del_p.R68fs|CACNB2_uc001ipv.2_Frame_Shift_Del_p.R68fs|CACNB2_uc009xka.1_Frame_Shift_Del_p.R68fs|CACNB2_uc001ipw.2_Frame_Shift_Del_p.R41fs|CACNB2_uc001ipx.2_Frame_Shift_Del_p.R41fs|CACNB2_uc009xkb.1_Frame_Shift_Del_p.R42fs|CACNB2_uc010qcm.1_Frame_Shift_Del_p.R42fs|CACNB2_uc001ipz.2_Frame_Shift_Del_p.R42fs|CACNB2_uc001ipy.2_Frame_Shift_Del_p.R42fs|CACNB2_uc010qcn.1_Frame_Shift_Del_p.R48fs|CACNB2_uc010qco.1_Frame_Shift_Del_p.R48fs|CACNB2_uc001iqa.2_Frame_Shift_Del_p.R48fs	p.R96fs	NM_201596	NP_963890	Q08289	CACB2_HUMAN			3	346	+			96					A6PVM5|A6PVM7|A6PVM8|O00304|Q5QJ99|Q5QJA0|Q5VVG9|Q5VVH0|Q5VWV6|Q6TME1|Q6TME2|Q6TME3|Q8WX81|Q96NZ3|Q96NZ4|Q96NZ5|Q9BWU2|Q9HD32|Q9Y340|Q9Y341	Frame_Shift_Del	DEL	ENST00000324631.7	37	c.286delC	CCDS7125.1																																																																																					0.532	CACNB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047072.2	NM_000724		28	30	28	30	---	---	---	---
TJP1	7082	broad.mit.edu	37	15	30000937	30000937	+	Frame_Shift_Del	DEL	T	T	-			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:30000937delT	ENST00000346128.6	-	25	5150	c.4676delA	c.(4675-4677)catfs	p.H1559fs	TJP1_ENST00000356107.6_Frame_Shift_Del_p.H1559fs|TJP1_ENST00000545208.2_Frame_Shift_Del_p.H1479fs|TJP1_ENST00000400011.2_Frame_Shift_Del_p.H1483fs	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1559					apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GTCAGGTTTATGTGCAGTTTC	0.418																																					Melanoma(77;681 1843 6309 6570)	uc001zcr.2																			0				ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(4675-4677)CATfs		tight junction protein 1 isoform a							247.0	227.0	233.0					15																	30000937		1893	4133	6026	SO:0001589	frameshift_variant	7082				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		g.chr15:30000937delT		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.4676delA	15.37:g.30000937delT	ENSP00000281537:p.His1559fs					TJP1_uc010azl.2_Frame_Shift_Del_p.H1547fs|TJP1_uc001zcq.2_Frame_Shift_Del_p.H1483fs|TJP1_uc001zcs.2_Frame_Shift_Del_p.H1479fs	p.H1559fs	NM_003257	NP_003248	Q07157	ZO1_HUMAN		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)	25	5151	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	1559					B4E3K1|Q2NKP3|Q4ZGJ6	Frame_Shift_Del	DEL	ENST00000346128.6	37	c.4676delA	CCDS42007.1																																																																																					0.418	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	NM_003257		227	105	227	105	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81627216	81627216	+	Frame_Shift_Del	DEL	G	G	-	rs536395500		TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chr15:81627216delG	ENST00000359440.5	-	21	2439	c.2304delC	c.(2302-2304)aacfs	p.N768fs	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA|TMC3_ENST00000558726.1_Frame_Shift_Del_p.N769fs|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											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						CCACGTTGCCGTTGTTTTGGG	0.592																																						uc002bgo.1																			0				ovary(1)|liver(1)	2						c.(2302-2304)AACfs		transmembrane channel-like 3							137.0	135.0	136.0					15																	81627216		2100	4214	6314	SO:0001589	frameshift_variant	342125					integral to membrane		g.chr15:81627216delG	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.2304delC	15.37:g.81627216delG	ENSP00000352413:p.Asn768fs					TMC3_uc010blr.1_RNA	p.N768fs	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			21	2304	-			768			Cytoplasmic (Potential).			Frame_Shift_Del	DEL	ENST00000359440.5	37	c.2304delC	CCDS45324.1																																																																																					0.592	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		97	45	97	45	---	---	---	---
MAGEB4	4115	broad.mit.edu	37	X	30261139	30261139	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-4583-01A-01D-1441-08	TCGA-33-4583-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	fb901997-6e46-436f-ad34-74aadc344245	e6b22358-9fe1-4637-b84f-828bacd3320d	g.chrX:30261139delC	ENST00000378982.2	+	1	1083	c.887delC	c.(886-888)accfs	p.T296fs	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	296	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						AATGACACCACCCCCAATAAC	0.532																																						uc004dcb.2																			0				ovary(1)	1						c.(886-888)ACCfs		melanoma antigen family B, 4							71.0	70.0	70.0					X																	30261139		2202	4300	6502	SO:0001589	frameshift_variant	4115							g.chrX:30261139delC		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.887delC	X.37:g.30261139delC	ENSP00000368266:p.Thr296fs					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.T296fs	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	971	+			296			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Frame_Shift_Del	DEL	ENST00000378982.2	37	c.887delC	CCDS14221.1																																																																																					0.532	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367		29	38	29	38	---	---	---	---
