#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
TAS1R2	80834	broad.mit.edu	37	1	19168341	19168341	+	Silent	SNP	A	A	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:19168341A>T	ENST00000375371.3	-	5	1494	c.1473T>A	c.(1471-1473)ccT>ccA	p.P491P		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	491					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.P491P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ACATGGACATAGGGATCTGGA	0.592																																						uc001bba.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1471-1473)CCT>CCA		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						106.0	94.0	98.0					1																	19168341		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19168341A>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1473T>A	1.37:g.19168341A>T							p.P491P	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	5	1474	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	491			Extracellular (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1473T>A	CCDS187.1																																																																																				PASS	0.592	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			14	103	14	103	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27094437	27094437	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:27094437C>G	ENST00000324856.7	+	11	3516	c.3145C>G	c.(3145-3147)Ctg>Gtg	p.L1049V	ARID1A_ENST00000374152.2_Missense_Mutation_p.L666V|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1049V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1049	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.L1049V(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TAGGAAACCTCTGGACCTCTA	0.547			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1				Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		1	Substitution - Missense(1)		lung(1)	ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3145-3147)CTG>GTG		AT rich interactive domain 1A isoform a							238.0	194.0	209.0					1																	27094437		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27094437C>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3145C>G	1.37:g.27094437C>G	ENSP00000320485:p.Leu1049Val					ARID1A_uc001bmt.1_Missense_Mutation_p.L1049V|ARID1A_uc001bmu.1_Missense_Mutation_p.L1049V|ARID1A_uc001bmw.1_Missense_Mutation_p.L666V	p.L1049V	NM_006015	NP_006006	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	11	3518	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1049			ARID.		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.3145C>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.561989	0.65538	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.52983	0.64;0.64;0.64	5.17	3.15	0.36227	ARID/BRIGHT DNA-binding domain (5);	0.000000	0.64402	D	0.000001	T	0.64416	0.2596	M	0.69523	2.12	0.80722	D	1	D;D;D	0.63880	0.993;0.992;0.993	D;D;D	0.80764	0.994;0.99;0.994	T	0.66536	-0.5899	10	0.51188	T	0.08	-8.4572	11.8049	0.52150	0.0:0.7852:0.0:0.2148	.	1049;1049;703	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	V	1049;1049;666	ENSP00000320485:L1049V;ENSP00000387636:L1049V;ENSP00000363267:L666V	ENSP00000320485:L1049V	L	+	1	2	ARID1A	26967024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.204000	0.51082	1.395000	0.46643	0.655000	0.94253	CTG		PASS	0.547	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		6	175	6	175	---	---	---	---
SYTL1	84958	broad.mit.edu	37	1	27675619	27675619	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:27675619G>C	ENST00000543823.1	+	5	970	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Missense_Mutation_p.E158Q			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	170					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|melanosome (GO:0042470)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)	p.E170Q(1)|p.E158Q(1)		NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGATCCTGAGGAGGCGTC	0.617																																						uc001bnw.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(508-510)GAG>CAG		synaptotagmin-like 1							80.0	84.0	83.0					1																	27675619		2203	4300	6503	SO:0001583	missense	84958				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding	g.chr1:27675619G>C	AK027902	CCDS298.1, CCDS53286.1	1p35.3	2008-02-05			ENSG00000142765	ENSG00000142765			15584	protein-coding gene	gene with protein product		608042				12137562	Standard	NM_032872		Approved	SLP1, JFC1, FLJ14996, exophilin-7	uc001bnw.2	Q8IYJ3	OTTHUMG00000005770	ENST00000543823.1:c.508G>C	1.37:g.27675619G>C	ENSP00000440704:p.Glu170Gln					SYTL1_uc001bnv.1_Missense_Mutation_p.E158Q|SYTL1_uc009vsu.1_Missense_Mutation_p.E158Q|SYTL1_uc001bnx.2_Missense_Mutation_p.E170Q|SYTL1_uc009vsv.1_Missense_Mutation_p.E170Q	p.E170Q	NM_032872	NP_116261	Q8IYJ3	SYTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	6	675	+		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)	170					Q5SSC9|Q96BB6|Q96GU6|Q96S89|Q96SI0	Missense_Mutation	SNP	ENST00000543823.1	37	c.508G>C	CCDS53286.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343548	0.41498	.	.	ENSG00000142765	ENST00000318074;ENST00000543823	T;T	0.46819	0.86;0.86	4.01	2.09	0.27110	.	.	.	.	.	T	0.56232	0.1971	M	0.62723	1.935	0.23351	N	0.997857	B;D;B;D	0.76494	0.028;0.999;0.012;0.98	B;D;B;P	0.64410	0.008;0.925;0.004;0.773	T	0.43294	-0.9400	9	0.21014	T	0.42	-0.7906	6.3226	0.21227	0.2347:0.0:0.7653:0.0	.	170;170;170;158	A8KAH3;G3V181;Q8IYJ3;Q8IYJ3-2	.;.;SYTL1_HUMAN;.	Q	158;170	ENSP00000316464:E158Q;ENSP00000440704:E170Q	ENSP00000316464:E158Q	E	+	1	0	SYTL1	27548206	0.533000	0.26354	0.422000	0.26621	0.145000	0.21501	1.199000	0.32235	0.443000	0.26582	0.462000	0.41574	GAG		PASS	0.617	SYTL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032872		6	97	6	97	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27877043	27877043	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:27877043C>G	ENST00000247087.5	-	5	2180	c.1584G>C	c.(1582-1584)cgG>cgC	p.R528R	AHDC1_ENST00000374011.2_Silent_p.R528R			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	528							DNA binding (GO:0003677)	p.R528R(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)		CTACCACGTTCCGCCCATTGT	0.622																																						uc009vsy.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1582-1584)CGG>CGC		AT hook, DNA binding motif, containing 1							44.0	46.0	45.0					1																	27877043		2203	4300	6503	SO:0001819	synonymous_variant	27245						DNA binding	g.chr1:27877043C>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.1584G>C	1.37:g.27877043C>G						AHDC1_uc009vsz.1_Silent_p.R528R	p.R528R	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	2553	-		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)	528					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	c.1584G>C	CCDS30652.1																																																																																				PASS	0.622	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			5	78	5	78	---	---	---	---
EYA3	2140	broad.mit.edu	37	1	28343723	28343723	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:28343723G>C	ENST00000373871.3	-	8	767	c.527C>G	c.(526-528)tCt>tGt	p.S176C	EYA3_ENST00000373863.3_Missense_Mutation_p.S130C|EYA3_ENST00000373864.1_Missense_Mutation_p.S20C|EYA3_ENST00000545175.1_Missense_Mutation_p.S123C|EYA3_ENST00000540618.1_Missense_Mutation_p.S130C|EYA3_ENST00000436342.2_Missense_Mutation_p.S50C|EYA3_ENST00000471498.1_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	176					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.S176C(1)		breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AGAAGAAGTAGATATCAGGCT	0.378																																						uc001bpi.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(526-528)TCT>TGT		eyes absent 3							229.0	227.0	228.0					1																	28343723		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28343723G>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.527C>G	1.37:g.28343723G>C	ENSP00000362978:p.Ser176Cys					EYA3_uc010ofs.1_Missense_Mutation_p.S123C|EYA3_uc010oft.1_Missense_Mutation_p.S130C|EYA3_uc001bpj.2_Missense_Mutation_p.S130C|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	p.S176C	NM_001990	NP_001981	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	8	692	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	176					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.527C>G	CCDS316.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351854	0.61183	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.93604	-2.95;-3.25;-3.23;-2.87;-2.94;-2.77	5.56	5.56	0.83823	.	0.265583	0.44902	D	0.000419	D	0.89959	0.6866	N	0.08118	0	0.43489	D	0.995722	P;P;P	0.37708	0.525;0.525;0.606	B;B;P	0.46543	0.129;0.303;0.52	D	0.91292	0.5060	10	0.62326	D	0.03	-32.6976	17.7092	0.88317	0.0:0.0:1.0:0.0	.	130;130;176	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	C	176;50;20;130;123;130	ENSP00000362978:S176C;ENSP00000405587:S50C;ENSP00000362971:S20C;ENSP00000442558:S130C;ENSP00000442280:S123C;ENSP00000362970:S130C	ENSP00000362970:S130C	S	-	2	0	EYA3	28216310	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	5.842000	0.69417	2.632000	0.89209	0.655000	0.94253	TCT		PASS	0.378	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		5	221	5	221	---	---	---	---
HMGB4	127540	broad.mit.edu	37	1	34329862	34329862	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:34329862A>G	ENST00000522796.1	+	4	1975	c.70A>G	c.(70-72)Aga>Gga	p.R24G	HMGB4_ENST00000425537.1_Splice_Site|HMGB4_ENST00000519684.1_Missense_Mutation_p.R24G|CSMD2_ENST00000373381.4_Intron			Q8WW32	HMGB4_HUMAN	high mobility group box 4	24						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R24G(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCTGAATTACAGAAACAAATT	0.378																																						uc001bxp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)AGA>GGA		HMG2 like isoform 1							83.0	88.0	86.0					1																	34329862		2203	4300	6503	SO:0001583	missense	127540					nucleus	DNA binding	g.chr1:34329862A>G		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	ENST00000522796.1:c.70A>G	1.37:g.34329862A>G	ENSP00000430919:p.Arg24Gly					CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Splice_Site	p.R24G	NM_145205	NP_660206	Q8WW32	HMGB4_HUMAN			2	1813	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	24					B2R4X7|Q0QWA4	Missense_Mutation	SNP	ENST00000522796.1	37	c.70A>G	CCDS30668.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.128471	0.37533	.	.	ENSG00000176256	ENST00000519684;ENST00000522796	T;T	0.23147	1.92;1.92	5.41	1.65	0.23941	.	0.000000	0.85682	D	0.000000	T	0.46112	0.1376	H	0.96889	3.9	0.38333	D	0.943858	P	0.43578	0.811	P	0.46419	0.516	T	0.52465	-0.8572	10	0.72032	D	0.01	.	6.3561	0.21402	0.5347:0.3144:0.0:0.1508	.	24	B2R4X7	.	G	24	ENSP00000429214:R24G;ENSP00000430919:R24G	ENSP00000429214:R24G	R	+	1	2	HMGB4	34102449	1.000000	0.71417	0.092000	0.20876	0.996000	0.88848	2.380000	0.44327	0.109000	0.17891	0.533000	0.62120	AGA		PASS	0.378	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	NM_145205		10	112	10	112	---	---	---	---
CLSPN	63967	broad.mit.edu	37	1	36226162	36226162	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:36226162G>A	ENST00000318121.3	-	8	1417	c.1360C>T	c.(1360-1362)Cat>Tat	p.H454Y	CLSPN_ENST00000251195.5_Missense_Mutation_p.H454Y|CLSPN_ENST00000520551.1_Missense_Mutation_p.H454Y|CLSPN_ENST00000373220.3_Missense_Mutation_p.H454Y	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	454					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.H454Y(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCCAGGGCATGAGGTTCAAAT	0.502																																						uc001bzi.2																			2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(1360-1362)CAT>TAT		claspin							164.0	152.0	156.0					1																	36226162		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36226162G>A	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.1360C>T	1.37:g.36226162G>A	ENSP00000312995:p.His454Tyr					CLSPN_uc009vux.2_Missense_Mutation_p.H454Y	p.H454Y	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			8	1440	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	454					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.1360C>T	CCDS396.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268776	0.40095	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.22945	1.93;1.93;1.93;1.93	4.79	-3.08	0.05347	.	0.606532	0.16361	N	0.217755	T	0.15565	0.0375	L	0.44542	1.39	0.09310	N	1	B;D	0.53745	0.379;0.962	B;B	0.42030	0.178;0.373	T	0.14090	-1.0485	10	0.59425	D	0.04	2.1137	2.7672	0.05323	0.1165:0.105:0.3122:0.4664	.	454;454	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Y	454	ENSP00000251195:H454Y;ENSP00000312995:H454Y;ENSP00000362317:H454Y;ENSP00000428848:H454Y	ENSP00000251195:H454Y	H	-	1	0	CLSPN	35998749	0.000000	0.05858	0.048000	0.18961	0.874000	0.50279	0.288000	0.18939	-0.319000	0.08652	0.591000	0.81541	CAT		PASS	0.502	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		5	177	5	177	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39851507	39851507	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:39851507C>G	ENST00000372915.3	+	56	14352	c.14265C>G	c.(14263-14265)ctC>ctG	p.L4755L	MACF1_ENST00000567887.1_Silent_p.L4787L|MACF1_ENST00000545844.1_Silent_p.L2688L|MACF1_ENST00000317713.7_Silent_p.L2688L|MACF1_ENST00000539005.1_Silent_p.L2667L|MACF1_ENST00000361689.2_Silent_p.L2688L|MACF1_ENST00000564288.1_Silent_p.L4750L|MACF1_ENST00000289893.4_Silent_p.L3190L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4755					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.L3190L(1)|p.L2688L(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)			GCGATGAACTCTCAGTGCTCA	0.488																																						uc010oiu.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(9568-9570)CTC>CTG		microfilament and actin filament cross-linker							119.0	109.0	112.0					1																	39851507		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.chr1:39851507C>G	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.14265C>G	1.37:g.39851507C>G						MACF1_uc010ois.1_Silent_p.L2688L|MACF1_uc001cda.1_Silent_p.L2575L|MACF1_uc001cdc.1_Silent_p.L1754L	p.L3190L	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)		21	9701	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	4755					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.9570C>G		.	.	.	.	.	.	.	.	.	.	C	6.507	0.461680	0.12342	.	.	ENSG00000127603	ENST00000372925	T	0.53640	0.61	6.06	-4.38	0.03622	.	0.000000	0.50627	D	0.000105	T	0.45518	0.1346	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46610	-0.9179	7	0.87932	D	0	.	4.4351	0.11547	0.0712:0.3369:0.2909:0.301	.	.	.	.	V	1801	ENSP00000362016:L1801V	ENSP00000362016:L1801V	L	+	1	0	MACF1	39624094	0.617000	0.27043	0.935000	0.37517	0.926000	0.56050	-0.169000	0.09911	-0.634000	0.05538	-0.150000	0.13652	CTC		PASS	0.488	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	134	3	134	---	---	---	---
SMAP2	64744	broad.mit.edu	37	1	40881009	40881009	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:40881009C>G	ENST00000539317.1	+	7	590	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	SMAP2_ENST00000487871.1_3'UTR	NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	213	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.L213V(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GGATTTAGATCTGTTGGCCTC	0.453																																						uc001cfj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(637-639)CTG>GTG		small ArfGAP2							282.0	273.0	276.0					1																	40881009		2203	4300	6503	SO:0001583	missense	64744				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	g.chr1:40881009C>G	AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.397C>G	1.37:g.40881009C>G	ENSP00000442835:p.Leu133Val					SMAP2_uc010ojh.1_Missense_Mutation_p.L213V|SMAP2_uc001cfk.2_Missense_Mutation_p.L183V|SMAP2_uc010oji.1_Missense_Mutation_p.L130V|SMAP2_uc010ojj.1_Missense_Mutation_p.L29V	p.L213V	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)		7	702	+	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	213			Interaction with clathrin heavy chains (By similarity).		B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Missense_Mutation	SNP	ENST00000539317.1	37	c.637C>G	CCDS55593.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.219021	0.79464	.	.	ENSG00000084070	ENST00000435168;ENST00000372718;ENST00000372708;ENST00000539317	T;T;T	0.32515	2.19;2.2;1.45	6.08	6.08	0.98989	.	0.067965	0.64402	D	0.000010	T	0.45458	0.1343	L	0.38175	1.15	0.58432	D	0.999998	D;D;D	0.64830	0.994;0.974;0.993	P;D;D	0.67725	0.888;0.953;0.952	T	0.04650	-1.0936	10	0.27785	T	0.31	-3.182	18.1573	0.89696	0.0:1.0:0.0:0.0	.	133;183;213	B7Z5B5;Q8WU79-2;Q8WU79	.;.;SMAP2_HUMAN	V	213;213;183;133	ENSP00000361803:L213V;ENSP00000361793:L183V;ENSP00000442835:L133V	ENSP00000361793:L183V	L	+	1	2	SMAP2	40653596	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.470000	0.53100	2.894000	0.99253	0.655000	0.94253	CTG		PASS	0.453	SMAP2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022733		18	349	18	349	---	---	---	---
CYP4A22	284541	broad.mit.edu	37	1	47610264	47610264	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:47610264G>C	ENST00000371891.3	+	8	971	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	CYP4A22_ENST00000294337.3_Missense_Mutation_p.E314Q|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_Intron|CYP4A22_ENST00000371890.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	314						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.E314Q(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTCCGTGCTGAGGTGGACAC	0.552																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(940-942)GAG>CAG		cytochrome P450, family 4, subfamily A,							121.0	117.0	119.0					1																	47610264		2203	4297	6500	SO:0001583	missense	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610264G>C		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.940G>C	1.37:g.47610264G>C	ENSP00000360958:p.Glu314Gln					CYP4A22_uc009vyo.2_Missense_Mutation_p.E314Q|CYP4A22_uc009vyp.2_Intron	p.E314Q	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			8	991	+			314					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.940G>C	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	g	17.55	3.416931	0.62511	.	.	ENSG00000162365	ENST00000371891;ENST00000294337	T;T	0.69306	-0.39;-0.39	1.51	1.51	0.23008	.	0.000000	0.85682	D	0.000000	T	0.77870	0.4195	M	0.69523	2.12	0.49798	D	0.999825	D	0.89917	1.0	D	0.97110	1.0	T	0.79448	-0.1799	10	0.87932	D	0	.	11.2947	0.49272	0.0:0.0:1.0:0.0	.	314	Q5TCH4	CP4AM_HUMAN	Q	314	ENSP00000360958:E314Q;ENSP00000294337:E314Q	ENSP00000294337:E314Q	E	+	1	0	CYP4A22	47382851	1.000000	0.71417	0.122000	0.21767	0.122000	0.20287	6.766000	0.74970	0.842000	0.35045	0.194000	0.17425	GAG		PASS	0.552	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		4	172	4	172	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75716933	75716933	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:75716933G>A	ENST00000370855.5	-	7	420	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000535611.1_5'UTR|SLC44A5_ENST00000370859.3_Missense_Mutation_p.P103S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	103					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P103S(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AACACGGAGGGACTGGTACAG	0.408																																						uc001dgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(307-309)CCC>TCC		solute carrier family 44, member 5 isoform A							125.0	109.0	115.0					1																	75716933		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75716933G>A	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.307C>T	1.37:g.75716933G>A	ENSP00000359892:p.Pro103Ser					SLC44A5_uc001dgt.2_Missense_Mutation_p.P103S|SLC44A5_uc001dgs.2_Missense_Mutation_p.P61S|SLC44A5_uc001dgr.2_Missense_Mutation_p.P61S|SLC44A5_uc010oqz.1_Missense_Mutation_p.P142S|SLC44A5_uc010ora.1_Missense_Mutation_p.P97S|SLC44A5_uc010orb.1_5'UTR	p.P103S	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			7	451	-			103			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.307C>T	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	9.688	1.151095	0.21371	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535790	T;T	0.14391	2.51;2.51	4.78	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	M	0.83118	2.625	0.80722	D	1	P;B;P;P;P	0.38420	0.63;0.427;0.63;0.562;0.562	B;B;B;B;B	0.40009	0.248;0.168;0.248;0.316;0.316	T	0.07790	-1.0754	10	0.12430	T	0.62	-6.1676	14.1582	0.65430	0.0:0.0:0.8487:0.1513	.	97;142;103;103;142	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	S	103;142;103;96	ENSP00000359896:P103S;ENSP00000359892:P103S	ENSP00000359892:P103S	P	-	1	0	SLC44A5	75489521	1.000000	0.71417	0.048000	0.18961	0.178000	0.23041	3.583000	0.53928	1.299000	0.44798	0.650000	0.86243	CCC		PASS	0.408	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		5	109	5	109	---	---	---	---
ST6GALNAC3	256435	broad.mit.edu	37	1	76779647	76779647	+	Missense_Mutation	SNP	G	G	T	rs142835503		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:76779647G>T	ENST00000328299.3	+	2	324	c.176G>T	c.(175-177)cGa>cTa	p.R59L	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	59					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)	p.R59L(1)|p.R59Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CGGCCCCTTCGAACTCACTAT	0.433																																						uc001dhh.2																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(3)|skin(2)	5						c.(175-177)CGA>CTA		sialyltransferase 7C isoform 1		G	LEU/ARG,LEU/ARG	0,4406		0,0,2203	121.0	109.0	113.0		176,176	4.2	1.0	1	dbSNP_134	113	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ST6GALNAC3	NM_001160011.1,NM_152996.2	102,102	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign,benign	59/211,59/306	76779647	1,13005	2203	4300	6503	SO:0001583	missense	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76779647G>T		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	ENST00000328299.3:c.176G>T	1.37:g.76779647G>T	ENSP00000329214:p.Arg59Leu					ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.R59L|ST6GALNAC3_uc010orh.1_Intron	p.R59L	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN			2	339	+			59			Lumenal (Potential).		Q6PCE0|Q6UX29|Q8N259	Missense_Mutation	SNP	ENST00000328299.3	37	c.176G>T	CCDS672.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.270438	0.23221	0.0	1.16E-4	ENSG00000184005	ENST00000394994;ENST00000328299;ENST00000394993	T	0.31247	1.5	5.12	4.19	0.49359	.	0.301976	0.34700	N	0.003744	T	0.10594	0.0259	L	0.47716	1.5	0.35377	D	0.789546	B;B	0.29253	0.007;0.239	B;B	0.23419	0.009;0.046	T	0.06935	-1.0799	10	0.32370	T	0.25	-21.4972	7.0694	0.25169	0.1599:0.142:0.698:0.0	.	59;59	Q8NDV1;Q8NDV1-2	SIA7C_HUMAN;.	L	59;59;58	ENSP00000329214:R59L	ENSP00000329214:R59L	R	+	2	0	ST6GALNAC3	76552235	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.871000	0.48459	1.117000	0.41842	0.491000	0.48974	CGA		PASS	0.433	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	NM_152996		6	98	6	98	---	---	---	---
BCAR3	8412	broad.mit.edu	37	1	94049605	94049605	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:94049605C>G	ENST00000370244.1	-	8	1291	c.1003G>C	c.(1003-1005)Gcc>Ccc	p.A335P	BCAR3_ENST00000260502.6_Missense_Mutation_p.A335P|BCAR3_ENST00000539242.1_Missense_Mutation_p.A11P|BCAR3_ENST00000370247.3_Missense_Mutation_p.A244P|BCAR3_ENST00000370243.1_Missense_Mutation_p.A335P|BCAR3_ENST00000466632.1_5'UTR	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	335					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.A335P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GACTGGTGGGCTTTGAGGGAC	0.512																																						uc001dpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1003-1005)GCC>CCC		breast cancer antiestrogen resistance 3							112.0	107.0	109.0					1																	94049605		2203	4300	6503	SO:0001583	missense	8412				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:94049605C>G	U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1003G>C	1.37:g.94049605C>G	ENSP00000359264:p.Ala335Pro					BCAR3_uc001dqa.2_Missense_Mutation_p.A335P|BCAR3_uc001dqb.2_Missense_Mutation_p.A335P|BCAR3_uc001dpx.3_Missense_Mutation_p.A11P|BCAR3_uc001dpy.2_Missense_Mutation_p.A244P|BCAR3_uc009wdm.1_Missense_Mutation_p.A11P	p.A335P	NM_003567	NP_003558	O75815	BCAR3_HUMAN		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)	6	1278	-		all_lung(203;0.00145)|Lung NSC(277;0.00662)	335					D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	c.1003G>C	CCDS745.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995534	0.54147	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.29917	1.97;1.96;1.96;1.96;1.55	5.56	4.64	0.57946	.	0.053349	0.64402	D	0.000001	T	0.18467	0.0443	M	0.65975	2.015	0.51012	D	0.999902	B;B;B	0.20887	0.049;0.01;0.028	B;B;B	0.17722	0.018;0.019;0.009	T	0.02966	-1.1088	10	0.30854	T	0.27	-8.9807	12.1836	0.54226	0.0:0.8653:0.0:0.1347	.	115;335;244	B3KNL6;O75815;Q5TEW3	.;BCAR3_HUMAN;.	P	244;335;335;335;11	ENSP00000359267:A244P;ENSP00000260502:A335P;ENSP00000359264:A335P;ENSP00000359263:A335P;ENSP00000441343:A11P	ENSP00000260502:A335P	A	-	1	0	BCAR3	93822193	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.883000	0.39658	2.607000	0.88179	0.655000	0.94253	GCC		PASS	0.512	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			5	81	5	81	---	---	---	---
AGL	178	broad.mit.edu	37	1	100368264	100368264	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:100368264A>G	ENST00000294724.4	+	27	4092	c.3614A>G	c.(3613-3615)cAg>cGg	p.Q1205R	AGL_ENST00000361302.3_Missense_Mutation_p.Q1189R|AGL_ENST00000370165.3_Missense_Mutation_p.Q1205R|AGL_ENST00000370161.2_Missense_Mutation_p.Q1189R|AGL_ENST00000361915.3_Missense_Mutation_p.Q1205R|AGL_ENST00000370163.3_Missense_Mutation_p.Q1205R|AGL_ENST00000361522.4_Missense_Mutation_p.Q1188R	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1205					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)	p.Q1205R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAAGTCATACAGGAAGCAATG	0.408																																						uc001dsi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(3613-3615)CAG>CGG		amylo-1,6-glucosidase,							113.0	105.0	108.0					1																	100368264		2203	4300	6503	SO:0001583	missense	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100368264A>G	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.3614A>G	1.37:g.100368264A>G	ENSP00000294724:p.Gln1205Arg					AGL_uc001dsj.1_Missense_Mutation_p.Q1205R|AGL_uc001dsk.1_Missense_Mutation_p.Q1205R|AGL_uc001dsl.1_Missense_Mutation_p.Q1205R|AGL_uc001dsm.1_Missense_Mutation_p.Q1189R|AGL_uc001dsn.1_Missense_Mutation_p.Q1188R	p.Q1205R	NM_000642	NP_000633	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	27	4014	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1205			4-alpha-glucanotransferase.		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	c.3614A>G	CCDS759.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.373603	0.82573	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43;-0.43;-0.43	6.04	6.04	0.98038	Six-hairpin glycosidase-like (1);	0.053499	0.85682	D	0.000000	T	0.77579	0.4151	M	0.80028	2.48	0.80722	D	1	D;D;D	0.57257	0.973;0.973;0.979	P;P;D	0.64877	0.885;0.885;0.93	T	0.78545	-0.2163	10	0.44086	T	0.13	.	16.2404	0.82405	1.0:0.0:0.0:0.0	.	1188;1189;1205	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	R	1205;1205;1205;1205;1189;1189;1188	ENSP00000355106:Q1205R;ENSP00000359184:Q1205R;ENSP00000359182:Q1205R;ENSP00000294724:Q1205R;ENSP00000354971:Q1189R;ENSP00000359180:Q1189R;ENSP00000354635:Q1188R	ENSP00000294724:Q1205R	Q	+	2	0	AGL	100140852	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	8.939000	0.92951	2.315000	0.78130	0.519000	0.50382	CAG		PASS	0.408	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		4	107	4	107	---	---	---	---
CD58	965	broad.mit.edu	37	1	117087219	117087219	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:117087219G>A	ENST00000369489.5	-	2	144	c.78C>T	c.(76-78)atC>atT	p.I26I	CD58_ENST00000369487.3_Silent_p.I26I|CD58_ENST00000457047.2_Silent_p.I26I	NM_001779.2	NP_001770.1	P19256	LFA3_HUMAN	CD58 molecule	26					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interferon-gamma (GO:0071346)|cellular response to tumor necrosis factor (GO:0071356)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|positive regulation of interleukin-8 secretion (GO:2000484)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.I26I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AAAAACAGCTGATGAAACCTA	0.348																																						uc001egm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(76-78)ATC>ATT		CD58 molecule isoform 1							30.0	29.0	30.0					1																	117087219		2203	4298	6501	SO:0001819	synonymous_variant	965				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding	g.chr1:117087219G>A	BC005930	CCDS888.1, CCDS44199.1	1p13	2008-02-05	2006-03-28		ENSG00000116815	ENSG00000116815		"""CD molecules"""	1688	protein-coding gene	gene with protein product		153420	"""CD58 antigen, (lymphocyte function-associated antigen 3)"""	LFA3		9510189	Standard	NM_001144822		Approved		uc001egm.3	P19256	OTTHUMG00000022749	ENST00000369489.5:c.78C>T	1.37:g.117087219G>A						CD58_uc001egn.2_RNA|CD58_uc010owy.1_Silent_p.I26I|CD58_uc001ego.1_RNA|CD58_uc001egp.3_Silent_p.I26I	p.I26I	NM_001779	NP_001770	P19256	LFA3_HUMAN		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)	2	199	-	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)	26					A8K7G5|Q5U053|Q6IB65|Q96KI9	Silent	SNP	ENST00000369489.5	37	c.78C>T	CCDS888.1																																																																																				PASS	0.348	CD58-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059036.1	NM_001779		5	25	5	25	---	---	---	---
TRIM45	80263	broad.mit.edu	37	1	117660749	117660749	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:117660749G>C	ENST00000256649.4	-	2	1655	c.1129C>G	c.(1129-1131)Cag>Gag	p.Q377E	TRIM45_ENST00000369464.3_Missense_Mutation_p.Q377E|TRIM45_ENST00000369461.3_Missense_Mutation_p.Q320E	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	377					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.Q377E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GCTTTCTCCTGAGGACAGAAG	0.468																																						uc001egz.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1129-1131)CAG>GAG		tripartite motif-containing 45 isoform 1							127.0	127.0	127.0					1																	117660749		2203	4300	6503	SO:0001583	missense	80263					cytoplasm|nucleus	zinc ion binding	g.chr1:117660749G>C		CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1129C>G	1.37:g.117660749G>C	ENSP00000256649:p.Gln377Glu					TRIM45_uc009whe.2_Missense_Mutation_p.Q377E|TRIM45_uc001eha.2_Missense_Mutation_p.Q273E	p.Q377E	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)	2	1717	-	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)	377					Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Missense_Mutation	SNP	ENST00000256649.4	37	c.1129C>G	CCDS893.1	.	.	.	.	.	.	.	.	.	.	G	2.079	-0.411215	0.04799	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	T;D;T	0.81659	-1.32;-1.52;-1.03	4.75	0.373	0.16178	.	0.439557	0.26153	N	0.026031	T	0.42921	0.1224	L	0.54323	1.7	0.18873	N	0.999985	B;B	0.23650	0.089;0.054	B;B	0.26969	0.075;0.034	T	0.41928	-0.9481	10	0.02654	T	1	-14.2025	1.9975	0.03459	0.15:0.1312:0.4297:0.2891	.	377;377	Q9H8W5-2;Q9H8W5	.;TRI45_HUMAN	E	377;377;320	ENSP00000256649:Q377E;ENSP00000358476:Q377E;ENSP00000358473:Q320E	ENSP00000256649:Q377E	Q	-	1	0	TRIM45	117462272	0.978000	0.34361	0.644000	0.29465	0.037000	0.13140	1.406000	0.34646	0.171000	0.19730	-0.181000	0.13052	CAG		PASS	0.468	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033503.1	NM_025188		4	189	4	189	---	---	---	---
PPIAL4G	644591	broad.mit.edu	37	1	143767819	143767819	+	Silent	SNP	G	G	A	rs587662435		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:143767819G>A	ENST00000419275.1	-	1	62	c.30C>T	c.(28-30)atC>atT	p.I10I		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	10	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.I10I(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						CGTCGACGGTGATGTCAAAAA	0.488																																						uc001ejt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(28-30)ATC>ATT		peptidylprolyl isomerase A (cyclophilin A)-like							146.0	133.0	137.0					1																	143767819		1568	3579	5147	SO:0001819	synonymous_variant	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767819G>A		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.30C>T	1.37:g.143767819G>A							p.I10I	NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN			1	63	-			10			PPIase cyclophilin-type.		A1L431	Silent	SNP	ENST00000419275.1	37	c.30C>T	CCDS41375.1																																																																																				PASS	0.488	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		6	284	6	284	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144952297	144952297	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:144952297G>C	ENST00000369354.3	-	4	611	c.422C>G	c.(421-423)tCa>tGa	p.S141*	PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.S207*|PDE4DIP_ENST00000369348.3_Nonsense_Mutation_p.S278*|PDE4DIP_ENST00000369347.4_Nonsense_Mutation_p.S141*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.S141*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.S141*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.S278*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.S278*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.S141*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	141					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.S141*(2)|p.S278*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CAGTTTCTCTGAGAGCTCCAG	0.522			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		3	Substitution - Nonsense(3)		lung(3)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(421-423)TCA>TGA		phosphodiesterase 4D interacting protein isoform							28.0	30.0	30.0					1																	144952297		2199	4274	6473	SO:0001587	stop_gained	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144952297G>C	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.422C>G	1.37:g.144952297G>C	ENSP00000358360:p.Ser141*					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Nonsense_Mutation_p.S207*|PDE4DIP_uc001emc.1_Nonsense_Mutation_p.S141*|PDE4DIP_uc001emd.1_Nonsense_Mutation_p.S141*|PDE4DIP_uc001emg.1_Nonsense_Mutation_p.S141*|PDE4DIP_uc001emh.2_Nonsense_Mutation_p.S278*	p.S141*	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	713	-			141					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	ENST00000369354.3	37	c.422C>G	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992084	0.93167	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000530078;ENST00000534536;ENST00000369347;ENST00000369348;ENST00000533259	.	.	.	4.78	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.20638	N	0.99988	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.6025	0.22708	0.0964:0.1813:0.7223:0.0	.	.	.	.	X	207;141;141;278;278;141;141;207;144;141;278;64	.	ENSP00000327209:S207X	S	-	2	0	PDE4DIP	143663654	0.105000	0.21958	0.966000	0.40874	0.950000	0.60333	2.111000	0.41883	1.243000	0.43853	0.561000	0.74099	TCA		PASS	0.522	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		3	109	3	109	---	---	---	---
VPS45	11311	broad.mit.edu	37	1	150048382	150048382	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:150048382G>C	ENST00000369130.3	+	4	907	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	VPS45_ENST00000535106.1_Missense_Mutation_p.E121Q|VPS45_ENST00000369128.5_Missense_Mutation_p.E85Q	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	121					blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.E121Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTTGTGGCTGAGGTTCAGGT	0.388																																						uc001etp.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(361-363)GAG>CAG		vacuolar protein sorting 45A							181.0	159.0	166.0					1																	150048382		2203	4300	6503	SO:0001583	missense	11311				blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction		g.chr1:150048382G>C	U35246	CCDS944.1, CCDS60244.1, CCDS72904.1	1q21.2	2008-02-05	2006-12-19	2006-12-19	ENSG00000136631	ENSG00000136631			14579	protein-coding gene	gene with protein product		610035	"""vacuolar protein sorting 45A (yeast homolog)"", ""vacuolar protein sorting 45A (yeast)"""	VPS45B, VPS45A		8996080	Standard	NM_007259		Approved	h-vps45, H1	uc001etp.3	Q9NRW7	OTTHUMG00000012511	ENST00000369130.3:c.361G>C	1.37:g.150048382G>C	ENSP00000358126:p.Glu121Gln					VPS45_uc010pbp.1_RNA|VPS45_uc010pbq.1_Missense_Mutation_p.E85Q|VPS45_uc010pbs.1_Missense_Mutation_p.E85Q|VPS45_uc001etq.2_5'Flank|VPS45_uc009wlm.1_Missense_Mutation_p.E121Q|VPS45_uc010pbr.1_Missense_Mutation_p.E85Q	p.E121Q	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	934	+	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		121					D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6	Missense_Mutation	SNP	ENST00000369130.3	37	c.361G>C	CCDS944.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567156	0.65651	.	.	ENSG00000136631	ENST00000369130;ENST00000369128;ENST00000535106;ENST00000419023	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.78679	0.4321	L	0.49640	1.575	0.28302	N	0.923074	D;D;B;B	0.89917	0.998;1.0;0.236;0.236	D;D;B;B	0.85130	0.994;0.997;0.173;0.173	T	0.73372	-0.4003	10	0.45353	T	0.12	-25.6742	18.1223	0.89576	0.0:0.0:1.0:0.0	.	85;85;121;121	F5H8K1;B7Z7G7;Q53FR8;Q9NRW7	.;.;.;VPS45_HUMAN	Q	121;85;121;121	ENSP00000358126:E121Q;ENSP00000358124:E85Q;ENSP00000440690:E121Q;ENSP00000400143:E121Q	ENSP00000358124:E85Q	E	+	1	0	VPS45	148315006	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.750000	0.98875	2.518000	0.84900	0.655000	0.94253	GAG		PASS	0.388	VPS45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034964.1	NM_007259		6	152	6	152	---	---	---	---
CDC42SE1	56882	broad.mit.edu	37	1	151026774	151026774	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:151026774C>G	ENST00000439374.2	-	7	1073	c.189G>C	c.(187-189)atG>atC	p.M63I	CDC42SE1_ENST00000357235.5_Missense_Mutation_p.M63I|CDC42SE1_ENST00000492796.1_5'UTR|CDC42SE1_ENST00000540998.1_Missense_Mutation_p.M63I			Q9NRR8	C42S1_HUMAN	CDC42 small effector 1	63					negative regulation of catalytic activity (GO:0043086)|phagocytosis (GO:0006909)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	GTPase inhibitor activity (GO:0005095)	p.M63I(2)		large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTTGGATCTCATCTGCTCCT	0.448																																						uc001ewo.2																			2	Substitution - Missense(2)		lung(2)		0						c.(187-189)ATG>ATC		CDC42 small effector 1							248.0	223.0	232.0					1																	151026774		2203	4300	6503	SO:0001583	missense	56882				phagocytosis|regulation of cell shape|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase inhibitor activity	g.chr1:151026774C>G	AF187845	CCDS981.1	1q21.1	2008-02-05			ENSG00000197622	ENSG00000197622			17719	protein-coding gene	gene with protein product						10816584	Standard	NM_001038707		Approved	SCIP1, SPEC1	uc001ewp.3	Q9NRR8	OTTHUMG00000035158	ENST00000439374.2:c.189G>C	1.37:g.151026774C>G	ENSP00000475845:p.Met63Ile					CDC42SE1_uc001ewp.2_Missense_Mutation_p.M63I	p.M63I	NM_001038707	NP_001033796	Q9NRR8	C42S1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		5	759	-	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		63					D3DV12|Q9HB17|Q9NQR2	Missense_Mutation	SNP	ENST00000439374.2	37	c.189G>C	CCDS981.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246047	0.95272	.	.	ENSG00000197622	ENST00000357235;ENST00000540998	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.79563	0.4467	.	.	.	0.53688	D	0.999973	P	0.42039	0.769	P	0.61397	0.888	T	0.79926	-0.1597	8	0.87932	D	0	-15.5157	17.8376	0.88704	0.0:1.0:0.0:0.0	.	63	Q9NRR8	C42S1_HUMAN	I	63	.	ENSP00000349773:M63I	M	-	3	0	CDC42SE1	149293398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.152000	0.64882	2.815000	0.96918	0.561000	0.74099	ATG		PASS	0.448	CDC42SE1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085096.2	NM_020239		9	294	9	294	---	---	---	---
SEMA6C	10500	broad.mit.edu	37	1	151108092	151108092	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:151108092C>G	ENST00000341697.3	-	14	3099	c.1408G>C	c.(1408-1410)Gag>Cag	p.E470Q	SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	470	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.E470Q(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCATCAATCTCTTCCAGGAGG	0.602																																						uc001ewu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1408-1410)GAG>CAG		semaphorin Y precursor							78.0	80.0	79.0					1																	151108092		2203	4300	6503	SO:0001583	missense	10500					integral to membrane	receptor activity	g.chr1:151108092C>G	AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1408G>C	1.37:g.151108092C>G	ENSP00000344148:p.Glu470Gln					SEMA6C_uc001ewv.2_Missense_Mutation_p.E470Q|SEMA6C_uc001eww.2_Missense_Mutation_p.E430Q|SEMA6C_uc010pcq.1_Missense_Mutation_p.E470Q	p.E470Q	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		14	1708	-	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		470			Extracellular (Potential).|Sema.		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	ENST00000341697.3	37	c.1408G>C	CCDS984.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469718	0.84533	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697	T;T;T;T	0.30981	1.51;1.51;1.51;1.51	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.113135	0.64402	D	0.000017	T	0.52338	0.1728	M	0.84683	2.71	0.40820	D	0.983499	D;D;D;D	0.89917	1.0;0.996;1.0;0.998	D;D;D;D	0.77557	0.99;0.986;0.967;0.986	T	0.62253	-0.6893	10	0.87932	D	0	.	15.2959	0.73906	0.0:1.0:0.0:0.0	.	470;430;470;470	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	Q	470;430;470;470	ENSP00000357910:E470Q;ENSP00000357908:E430Q;ENSP00000357909:E470Q;ENSP00000344148:E470Q	ENSP00000344148:E470Q	E	-	1	0	SEMA6C	149374716	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.911000	0.69939	2.215000	0.71742	0.561000	0.74099	GAG		PASS	0.602	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1	NM_030913		4	180	4	180	---	---	---	---
PIP5K1A	8394	broad.mit.edu	37	1	151196730	151196730	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:151196730G>T	ENST00000368888.4	+	2	517	c.95G>T	c.(94-96)gGa>gTa	p.G32V	PIP5K1A_ENST00000441902.2_Missense_Mutation_p.G32V|PIP5K1A_ENST00000409426.1_Missense_Mutation_p.G32V|PIP5K1A_ENST00000368890.4_Missense_Mutation_p.G31V	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	32					actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)	p.G32V(1)		breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCATCTGGAATCAAGAGA	0.383																																					Pancreas(80;36 1443 2325 16095 21302)	uc001exj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(94-96)GGA>GTA		phosphatidylinositol-4-phosphate 5-kinase, type							219.0	211.0	214.0					1																	151196730		2203	4300	6503	SO:0001583	missense	8394				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding	g.chr1:151196730G>T	U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351	ENST00000368888.4:c.95G>T	1.37:g.151196730G>T	ENSP00000357883:p.Gly32Val					PIP5K1A_uc001exi.2_Missense_Mutation_p.G31V|PIP5K1A_uc010pcu.1_Missense_Mutation_p.G32V|PIP5K1A_uc001exk.2_Missense_Mutation_p.G31V	p.G32V	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	547	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		32					A8K4Q0|B4DIN0|Q99754|Q99756	Missense_Mutation	SNP	ENST00000368888.4	37	c.95G>T	CCDS44219.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957842	0.34565	.	.	ENSG00000143398	ENST00000447555;ENST00000349792;ENST00000409426;ENST00000441902;ENST00000368890;ENST00000368888	T;T;T;T;T	0.33438	1.63;1.64;1.42;1.41;1.69	4.32	3.37	0.38596	.	25.218100	0.00166	N	0.000001	T	0.23688	0.0573	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.43826	0.818;0.775;0.536;0.775	B;B;B;B	0.43916	0.407;0.436;0.123;0.382	T	0.32107	-0.9919	10	0.36615	T	0.2	.	10.1483	0.42778	0.0:0.2026:0.7974:0.0	.	32;31;32;31	Q99755-4;Q99755-2;Q99755;Q99755-3	.;.;PI51A_HUMAN;.	V	36;31;32;32;31;32	ENSP00000271663:G31V;ENSP00000386432:G32V;ENSP00000415648:G32V;ENSP00000357885:G31V;ENSP00000357883:G32V	ENSP00000271663:G31V	G	+	2	0	PIP5K1A	149463354	1.000000	0.71417	1.000000	0.80357	0.273000	0.26683	0.686000	0.25392	1.374000	0.46228	0.455000	0.32223	GGA		PASS	0.383	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034425.2	NM_003557		8	186	8	186	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281874	152281874	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:152281874C>G	ENST00000368799.1	-	3	5523	c.5488G>C	c.(5488-5490)Gag>Cag	p.E1830Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1830	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.E1830Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCGATTGCTCATAGTGGGAT	0.582									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5488-5490)GAG>CAG		filaggrin							364.0	357.0	359.0					1																	152281874		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281874C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5488G>C	1.37:g.152281874C>G	ENSP00000357789:p.Glu1830Gln						p.E1830Q	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5524	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1830			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5488G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	9.051	0.992068	0.18966	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01685	4.69	2.91	0.73	0.18271	.	.	.	.	.	T	0.01976	0.0062	M	0.80982	2.52	0.09310	N	1	D	0.53885	0.963	P	0.49999	0.628	T	0.39165	-0.9627	9	0.45353	T	0.12	-0.5232	9.4497	0.38719	0.0:0.4195:0.5804:0.0	.	1830	P20930	FILA_HUMAN	Q	1830;65	ENSP00000357789:E1830Q	ENSP00000271820:E65Q	E	-	1	0	FLG	150548498	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.855000	0.04295	0.175000	0.19841	0.586000	0.80456	GAG		PASS	0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	802	7	802	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152329650	152329650	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:152329650C>T	ENST00000388718.5	-	3	684	c.612G>A	c.(610-612)ctG>ctA	p.L204L	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	204	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.L204L(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTTTCTCTCAGTTCTACAG	0.468																																						uc001ezw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(610-612)CTG>CTA		filaggrin family member 2							216.0	218.0	217.0					1																	152329650		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152329650C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.612G>A	1.37:g.152329650C>T						uc001ezv.2_Intron	p.L204L	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	685	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		204			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.612G>A	CCDS30861.1																																																																																				PASS	0.468	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		11	358	11	358	---	---	---	---
CHRNB2	1141	broad.mit.edu	37	1	154542077	154542077	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:154542077C>T	ENST00000368476.3	+	2	468	c.204C>T	c.(202-204)atC>atT	p.I68I		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	68					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)	p.I68I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	CCCAGCTCATCAGTGTGGTGA	0.542																																						uc001ffg.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(202-204)ATC>ATT		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						52.0	50.0	50.0					1																	154542077		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154542077C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.204C>T	1.37:g.154542077C>T							p.I68I	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	468	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		68			Extracellular (Potential).		Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.204C>T	CCDS1070.1																																																																																				PASS	0.542	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		7	63	7	63	---	---	---	---
KCNN3	3782	broad.mit.edu	37	1	154794573	154794573	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:154794573C>T	ENST00000271915.4	-	2	1336	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	KCNN3_ENST00000361147.4_Missense_Mutation_p.E36K|KCNN3_ENST00000358505.2_Missense_Mutation_p.E28K	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	346					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.E36K(1)|p.E341K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ACCTGGACTTCACGTGTGTGG	0.562																																						uc001ffp.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(1021-1023)GAA>AAA		small conductance calcium-activated potassium							118.0	99.0	105.0					1																	154794573		2203	4300	6503	SO:0001583	missense	3782					integral to membrane	calmodulin binding	g.chr1:154794573C>T	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1021G>A	1.37:g.154794573C>T	ENSP00000271915:p.Glu341Lys					KCNN3_uc001ffo.2_Missense_Mutation_p.E36K|KCNN3_uc009wox.1_Missense_Mutation_p.E341K	p.E341K	NM_002249	NP_002240	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		2	1335	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		346					B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	c.1021G>A	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315348	0.95655	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98835	-5.15;-3.98;-5.17	4.89	4.89	0.63831	Potassium channel, calcium-activated, SK, conserved region (1);	0.000000	0.56097	D	0.000030	D	0.99299	0.9755	M	0.91140	3.18	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.80764	0.994;0.989;0.973	D	0.99126	1.0851	10	0.87932	D	0	-13.8261	16.9737	0.86308	0.0:1.0:0.0:0.0	.	347;346;36	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	K	36;341;28	ENSP00000354764:E36K;ENSP00000271915:E341K;ENSP00000351295:E28K	ENSP00000271915:E341K	E	-	1	0	KCNN3	153061197	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	6.816000	0.75247	2.559000	0.86315	0.555000	0.69702	GAA		PASS	0.562	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		3	70	3	70	---	---	---	---
CCT3	7203	broad.mit.edu	37	1	156304662	156304662	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:156304662C>T	ENST00000295688.3	-	3	421	c.141G>A	c.(139-141)atG>atA	p.M47I	CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Intron|CCT3_ENST00000472765.2_Missense_Mutation_p.M2I|CCT3_ENST00000368261.3_Missense_Mutation_p.M2I|TSACC_ENST00000368255.3_5'Flank	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	47					'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)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.M47I(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					AGCCTACCTTCATCATGGACT	0.373																																						uc001fol.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(139-141)ATG>ATA		chaperonin containing TCP1, subunit 3 isoform a							131.0	128.0	129.0					1																	156304662		2203	4300	6503	SO:0001583	missense	7203				'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding	g.chr1:156304662C>T	BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.141G>A	1.37:g.156304662C>T	ENSP00000295688:p.Met47Ile					CCT3_uc001fom.1_Missense_Mutation_p.M47I|CCT3_uc001fon.1_Intron|CCT3_uc010phj.1_Missense_Mutation_p.M1I|CCT3_uc010phk.1_Missense_Mutation_p.M1I|CCT3_uc010phl.1_Missense_Mutation_p.M1I|C1orf182_uc001foo.2_5'Flank	p.M47I	NM_005998	NP_005989	P49368	TCPG_HUMAN			3	361	-	Hepatocellular(266;0.158)		47					A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	ENST00000295688.3	37	c.141G>A	CCDS1140.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277199	0.80580	.	.	ENSG00000163468	ENST00000295688;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684;ENST00000478640;ENST00000415548	T;T;T;T;T;T;T	0.78481	-1.17;-1.17;-1.17;-1.17;-1.17;-1.18;-1.17	5.83	5.83	0.93111	Chaperonin TCP-1, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.69097	0.3073	L	0.61387	1.9	0.58432	D	0.999999	B;B	0.29612	0.251;0.07	B;B	0.35859	0.212;0.128	T	0.66571	-0.5890	10	0.27082	T	0.32	-26.1198	15.6163	0.76769	0.0:1.0:0.0:0.0	.	47;47	E9PAQ6;P49368	.;TCPG_HUMAN	I	47;2;2;71;47;47;47	ENSP00000295688:M47I;ENSP00000357244:M2I;ENSP00000431543:M2I;ENSP00000413308:M71I;ENSP00000434232:M47I;ENSP00000435026:M47I;ENSP00000413431:M47I	ENSP00000295688:M47I	M	-	3	0	CCT3	154571286	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.001000	0.76297	2.756000	0.94617	0.655000	0.94253	ATG		PASS	0.373	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060602.3	NM_005998		4	138	4	138	---	---	---	---
OR6N2	81442	broad.mit.edu	37	1	158747222	158747222	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:158747222G>A	ENST00000339258.1	-	1	203	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F68F(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					ACAACTCCAAGAAGGAAAGAA	0.443																																						uc010pir.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(202-204)TTC>TTT		olfactory receptor, family 6, subfamily N,							169.0	161.0	164.0					1																	158747222		2203	4300	6503	SO:0001819	synonymous_variant	81442				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158747222G>A	BK004200	CCDS30906.1	1q23.1	2012-08-09			ENSG00000188340	ENSG00000188340		"""GPCR / Class A : Olfactory receptors"""	15035	protein-coding gene	gene with protein product							Standard	NM_001005278		Approved		uc010pir.2	Q8NGY6	OTTHUMG00000022775	ENST00000339258.1:c.204C>T	1.37:g.158747222G>A							p.F68F	NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN			1	204	-	all_hematologic(112;0.0378)		68			Helical; Name=2; (Potential).		Q6IFR2	Silent	SNP	ENST00000339258.1	37	c.204C>T	CCDS30906.1																																																																																				PASS	0.443	OR6N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059068.1			12	233	12	233	---	---	---	---
FCGR2A	2212	broad.mit.edu	37	1	161487879	161487879	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:161487879G>A	ENST00000271450.6	+	7	933	c.895G>A	c.(895-897)Gat>Aat	p.D299N	FCGR2A_ENST00000486608.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.D298N|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	299					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D298N(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCTACTGACGATGATAAAAA	0.443																																						uc001gan.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(895-897)GAT>AAT		Fc fragment of IgG, low affinity IIa, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						70.0	70.0	70.0					1																	161487879		2202	4293	6495	SO:0001583	missense	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161487879G>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.895G>A	1.37:g.161487879G>A	ENSP00000271450:p.Asp299Asn					FCGR2A_uc001gam.2_Missense_Mutation_p.D298N|FCGR2A_uc001gao.2_RNA	p.D299N	NM_001136219	NP_001129691	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	948	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		299			Cytoplasmic (Potential).		Q8WUN1|Q8WW64	Missense_Mutation	SNP	ENST00000271450.6	37	c.895G>A	CCDS44264.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.470203	0.26423	.	.	ENSG00000143226	ENST00000367972;ENST00000271450;ENST00000537821;ENST00000461298	T;T	0.02498	4.27;4.27	0.565	-0.483	0.12075	.	5.152060	0.01233	N	0.008401	T	0.01661	0.0053	N	0.08118	0	0.22389	N	0.999144	D;D	0.71674	0.996;0.998	D;D	0.74023	0.959;0.982	T	0.43376	-0.9395	8	0.51188	T	0.08	.	.	.	.	.	299;298	P12318;P12318-2	FCG2A_HUMAN;.	N	298;299;34;34	ENSP00000356949:D298N;ENSP00000271450:D299N	ENSP00000271450:D299N	D	+	1	0	FCGR2A	159754503	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.132000	0.10467	-0.258000	0.09446	-0.251000	0.11542	GAT		PASS	0.443	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		4	148	4	148	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177250629	177250629	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:177250629C>G	ENST00000361539.4	+	8	2629	c.2317C>G	c.(2317-2319)Cct>Gct	p.P773A	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	773					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.P773A(1)									GCTGCCAAACCCTGTGGAATA	0.532																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(2317-2319)CCT>GCT		family with sequence similarity 5, member B							72.0	77.0	76.0					1																	177250629		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177250629C>G		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.2317C>G	1.37:g.177250629C>G	ENSP00000354481:p.Pro773Ala					FAM5B_uc001glg.2_Missense_Mutation_p.P668A	p.P773A	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2629	+			773					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.2317C>G	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	0.156	-1.086427	0.01873	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.12569	2.67	5.05	4.12	0.48240	.	0.276621	0.35585	N	0.003118	T	0.07954	0.0199	N	0.14661	0.345	0.31324	N	0.685665	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.10847	-1.0612	10	0.28530	T	0.3	-13.2316	9.9142	0.41423	0.1442:0.5758:0.28:0.0	.	668;773	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	A	526;773	ENSP00000354481:P773A	ENSP00000354481:P773A	P	+	1	0	FAM5B	175517252	0.041000	0.20044	0.996000	0.52242	0.945000	0.59286	0.314000	0.19432	1.094000	0.41399	0.313000	0.20887	CCT		PASS	0.532	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		5	150	5	150	---	---	---	---
GLUL	2752	broad.mit.edu	37	1	182353797	182353797	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:182353797C>G	ENST00000331872.6	-	7	1405	c.865G>C	c.(865-867)Gat>Cat	p.D289H	GLUL_ENST00000417584.2_Missense_Mutation_p.D289H|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000311223.5_Missense_Mutation_p.D289H|GLUL_ENST00000339526.4_Missense_Mutation_p.D289H	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	289					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.D289H(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CCCTTGGGATCATAGGCACGG	0.512																																						uc001gpa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(865-867)GAT>CAT		glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						107.0	100.0	103.0					1																	182353797		2203	4300	6503	SO:0001583	missense	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182353797C>G	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.865G>C	1.37:g.182353797C>G	ENSP00000356537:p.Asp289His					GLUL_uc010pnt.1_Missense_Mutation_p.D76H|GLUL_uc001gpb.1_Missense_Mutation_p.D289H|GLUL_uc001gpc.1_Missense_Mutation_p.D289H|GLUL_uc001gpd.1_Missense_Mutation_p.D289H	p.D289H	NM_001033056	NP_001028228	P15104	GLNA_HUMAN			7	1077	-			289					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	ENST00000331872.6	37	c.865G>C	CCDS1344.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455848	0.84209	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03	5.47	4.53	0.55603	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95561	0.8629	10	0.87932	D	0	-30.1683	14.7182	0.69286	0.0:0.8538:0.1462:0.0	.	289	P15104	GLNA_HUMAN	H	289	ENSP00000356537:D289H;ENSP00000307900:D289H;ENSP00000398320:D289H;ENSP00000344958:D289H	ENSP00000307900:D289H	D	-	1	0	GLUL	180620420	1.000000	0.71417	0.999000	0.59377	0.931000	0.56810	7.275000	0.78548	1.236000	0.43740	0.655000	0.94253	GAT		PASS	0.512	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		4	148	4	148	---	---	---	---
RNASEL	6041	broad.mit.edu	37	1	182551334	182551334	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:182551334C>G	ENST00000367559.3	-	4	1879	c.1626G>C	c.(1624-1626)ctG>ctC	p.L542L	RNASEL_ENST00000444138.1_Silent_p.L542L|RNASEL_ENST00000539397.1_Silent_p.L542L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	542	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)	p.L542L(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						TTTGAGCTTTCAGATCCTCAA	0.448																																						uc001gpj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|stomach(1)	5						c.(1624-1626)CTG>CTC		ribonuclease L							179.0	164.0	169.0					1																	182551334		2203	4300	6503	SO:0001819	synonymous_variant	6041	Hereditary_Prostate_Cancer			mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding	g.chr1:182551334C>G	L10381	CCDS1347.1	1q25	2013-01-10			ENSG00000135828	ENSG00000135828	3.1.26.-	"""Ankyrin repeat domain containing"""	10050	protein-coding gene	gene with protein product		180435	"""prostate cancer 1"""	RNS4, PRCA1		7514564	Standard	NM_021133		Approved		uc009wxz.2	Q05823	OTTHUMG00000035213	ENST00000367559.3:c.1626G>C	1.37:g.182551334C>G						RNASEL_uc009wxz.1_Silent_p.L542L|RNASEL_uc001gpk.2_Silent_p.L542L|RNASEL_uc009wya.1_3'UTR	p.L542L	NM_021133	NP_066956	Q05823	RN5A_HUMAN			3	1793	-			542			Protein kinase.		Q5W0L2|Q6AI46	Silent	SNP	ENST00000367559.3	37	c.1626G>C	CCDS1347.1																																																																																				PASS	0.448	RNASEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085189.1	NM_021133		7	248	7	248	---	---	---	---
LGR6	59352	broad.mit.edu	37	1	202288069	202288069	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:202288069C>G	ENST00000367278.3	+	18	2727	c.2638C>G	c.(2638-2640)Ctg>Gtg	p.L880V	LGR6_ENST00000255432.7_Missense_Mutation_p.L828V|LGR6_ENST00000439764.2_Missense_Mutation_p.L741V	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	880					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)	p.L880V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGATCTCATTCTGGAAGCTTC	0.632																																						uc001gxu.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2638-2640)CTG>GTG		leucine-rich repeat-containing G protein-coupled							54.0	64.0	61.0					1																	202288069		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202288069C>G	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2638C>G	1.37:g.202288069C>G	ENSP00000356247:p.Leu880Val					LGR6_uc001gxv.2_Missense_Mutation_p.L828V|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.L741V	p.L880V	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			18	2638	+			880			Cytoplasmic (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2638C>G	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	9.863	1.196912	0.22037	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.61158	0.13;0.53;0.55	4.6	3.68	0.42216	.	0.493997	0.19366	N	0.116020	T	0.38214	0.1032	L	0.40543	1.245	0.28638	N	0.907327	P;B;B	0.38370	0.628;0.129;0.079	B;B;B	0.31946	0.137;0.138;0.05	T	0.18398	-1.0338	10	0.18710	T	0.47	.	5.0094	0.14304	0.0:0.6482:0.2162:0.1356	.	741;828;880	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	V	880;828;741	ENSP00000356247:L880V;ENSP00000255432:L828V;ENSP00000387869:L741V	ENSP00000255432:L828V	L	+	1	2	LGR6	200554692	0.722000	0.28017	0.995000	0.50966	0.973000	0.67179	0.904000	0.28491	1.293000	0.44690	0.485000	0.47835	CTG		PASS	0.632	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		3	130	3	130	---	---	---	---
C1orf116	79098	broad.mit.edu	37	1	207196391	207196391	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:207196391C>G	ENST00000359470.5	-	4	967	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	C1orf116_ENST00000461135.2_5'UTR	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	240						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.E240Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					GGAGTCTGCTCTCTTTCCTGG	0.602																																						uc001hfd.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(718-720)GAG>CAG		specifically androgen-regulated protein isoform							204.0	201.0	202.0					1																	207196391		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207196391C>G		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.718G>C	1.37:g.207196391C>G	ENSP00000352447:p.Glu240Gln					C1orf116_uc009xcb.1_5'UTR	p.E240Q	NM_023938	NP_076427	Q9BW04	SARG_HUMAN			4	977	-	Prostate(682;0.19)		240					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.718G>C	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	9.090	1.001472	0.19121	.	.	ENSG00000182795	ENST00000359470	T	0.08458	3.09	5.35	2.16	0.27623	.	1.870330	0.02213	N	0.063338	T	0.06826	0.0174	N	0.19112	0.55	0.09310	N	0.999994	P	0.36535	0.557	B	0.33521	0.165	T	0.39014	-0.9634	10	0.21540	T	0.41	-0.7977	8.9972	0.36059	0.0:0.7681:0.0:0.2319	.	240	Q9BW04	SARG_HUMAN	Q	240	ENSP00000352447:E240Q	ENSP00000352447:E240Q	E	-	1	0	C1orf116	205263014	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	0.117000	0.15583	0.481000	0.27557	0.655000	0.94253	GAG		PASS	0.602	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		10	292	10	292	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207644397	207644397	+	Missense_Mutation	SNP	T	T	G	rs147378770	byFrequency	TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:207644397T>G	ENST00000367058.3	+	8	1647	c.1458T>G	c.(1456-1458)ttT>ttG	p.F486L	CR2_ENST00000458541.2_Missense_Mutation_p.F486L|CR2_ENST00000367057.3_Missense_Mutation_p.F486L|CR2_ENST00000367059.3_Missense_Mutation_p.F486L	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	486	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)	p.F486L(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						AGCACCAATTTGTTAGACCAG	0.453																																						uc001hfw.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8						c.(1456-1458)TTT>TTG		complement component (3d/Epstein Barr virus)							167.0	158.0	161.0					1																	207644397		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207644397T>G	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1458T>G	1.37:g.207644397T>G	ENSP00000356025:p.Phe486Leu					CR2_uc001hfv.2_Missense_Mutation_p.F486L|CR2_uc009xch.2_Missense_Mutation_p.F486L|CR2_uc009xci.1_5'UTR	p.F486L	NM_001877	NP_001868	P20023	CR2_HUMAN			8	1552	+			486			Sushi 8.|Extracellular (Potential).		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.1458T>G	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	T	0.447	-0.895451	0.02491	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.32023	1.5;1.47;1.54;1.64	4.97	-1.15	0.09709	Sushi/SCR/CCP (1);	.	.	.	.	T	0.19604	0.0471	L	0.48642	1.525	0.09310	N	1	B;B;B	0.17667	0.023;0.002;0.019	B;B;B	0.20184	0.028;0.007;0.026	T	0.37776	-0.9691	9	0.07813	T	0.8	.	4.7675	0.13139	0.0:0.392:0.1843:0.4237	.	486;486;486	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	L	486	ENSP00000356025:F486L;ENSP00000356024:F486L;ENSP00000356026:F486L;ENSP00000404222:F486L	ENSP00000356024:F486L	F	+	3	2	CR2	205711020	0.005000	0.15991	0.000000	0.03702	0.013000	0.08279	1.001000	0.29783	-0.099000	0.12263	0.533000	0.62120	TTT		PASS	0.453	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		6	158	6	158	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215847680	215847680	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:215847680C>G	ENST00000307340.3	-	63	13959	c.13573G>C	c.(13573-13575)Gat>Cat	p.D4525H	USH2A_ENST00000366943.2_Missense_Mutation_p.D4525H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4525	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D4525H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGGTTCGATCTTTGACAAGA	0.522										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(13573-13575)GAT>CAT		usherin isoform B							99.0	97.0	98.0					1																	215847680		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847680C>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13573G>C	1.37:g.215847680C>G	ENSP00000305941:p.Asp4525His	HNSCC(13;0.011)					p.D4525H	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13960	-			4525			Fibronectin type-III 30.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13573G>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	6.633	0.485299	0.12641	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53206	1.11;0.63	4.29	2.31	0.28768	Fibronectin, type III (3);Immunoglobulin-like fold (1);	1.018280	0.07915	U	0.974874	T	0.30603	0.0770	N	0.25647	0.755	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.28364	-1.0046	10	0.41790	T	0.15	.	1.1648	0.01813	0.1946:0.4192:0.1913:0.1949	.	4525	O75445	USH2A_HUMAN	H	4525	ENSP00000305941:D4525H;ENSP00000355910:D4525H	ENSP00000305941:D4525H	D	-	1	0	USH2A	213914303	0.985000	0.35326	0.076000	0.20297	0.614000	0.37383	2.974000	0.49272	0.335000	0.23614	0.467000	0.42956	GAT		PASS	0.522	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		5	152	5	152	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222828095	222828095	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:222828095C>T	ENST00000344922.5	+	18	4592	c.4567C>T	c.(4567-4569)Ctg>Ttg	p.L1523L	MIA3_ENST00000340535.7_Silent_p.L401L|MIA3_ENST00000344441.6_Silent_p.L1523L|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1523					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.L1523M(1)|p.L1523L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGTGGAGATTCTGAATGAGCT	0.393																																						uc001hnl.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)	ovary(4)|central_nervous_system(1)	5						c.(4567-4569)CTG>TTG		melanoma inhibitory activity family, member 3							106.0	101.0	102.0					1																	222828095		1949	4149	6098	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222828095C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4567C>T	1.37:g.222828095C>T						MIA3_uc001hnm.2_Silent_p.L401L	p.L1523L	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	18	4576	+			1523			Cytoplasmic (Potential).|Potential.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.4567C>T	CCDS41470.1																																																																																				PASS	0.393	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		4	88	4	88	---	---	---	---
DISC1	27185	broad.mit.edu	37	1	231830302	231830302	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:231830302C>T	ENST00000602281.1	+	2	851	c.798C>T	c.(796-798)ttC>ttT	p.F266F	DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000537876.1_Silent_p.F266F|DISC1_ENST00000366633.3_Silent_p.F266F|DISC1_ENST00000366636.4_Silent_p.F266F|DISC1_ENST00000439617.2_Silent_p.F266F|DISC1_ENST00000317586.4_Silent_p.F266F|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Silent_p.F266F|DISC1_ENST00000535983.1_Silent_p.F266F	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	266	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.F266F(4)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTCGGCCCTTCAGTCTCTTGG	0.617																																						uc001huz.2																			4	Substitution - coding silent(4)		lung(4)	skin(1)	1						c.(796-798)TTC>TTT		disrupted in schizophrenia 1 isoform L							46.0	51.0	50.0					1																	231830302		2203	4300	6503	SO:0001819	synonymous_variant	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830302C>T	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.798C>T	1.37:g.231830302C>T						TSNAX-DISC1_uc010pwe.1_Silent_p.F221F|TSNAX-DISC1_uc010pwf.1_Silent_p.F221F|TSNAX-DISC1_uc010pwg.1_Silent_p.F255F|TSNAX-DISC1_uc010pwh.1_Silent_p.F221F|TSNAX-DISC1_uc010pwi.1_Silent_p.F221F|TSNAX-DISC1_uc010pwj.1_Silent_p.F255F|TSNAX-DISC1_uc010pwk.1_Silent_p.F255F|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Silent_p.F266F|DISC1_uc010pwp.1_Silent_p.F266F|DISC1_uc010pwq.1_Silent_p.F266F|DISC1_uc010pwr.1_Silent_p.F266F|DISC1_uc010pws.1_Silent_p.F266F|DISC1_uc010pwt.1_Silent_p.F266F|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Silent_p.F266F|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Silent_p.F266F|DISC1_uc010pxb.1_Silent_p.F266F|DISC1_uc010pxc.1_Silent_p.F266F|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Silent_p.F266F|DISC1_uc009xfr.2_Silent_p.F221F|DISC1_uc010pxf.1_Silent_p.F266F|DISC1_uc010pxg.1_Silent_p.F266F|DISC1_uc010pxh.1_Silent_p.F266F|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Silent_p.F266F|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Silent_p.F266F|DISC1_uc010pwm.1_Silent_p.F266F|DISC1_uc001hux.1_Silent_p.F266F|DISC1_uc001hvc.3_Silent_p.F266F|DISC1_uc010pwn.1_Silent_p.F266F	p.F266F	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			2	851	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	266			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Silent	SNP	ENST00000602281.1	37	c.798C>T	CCDS59205.1																																																																																				PASS	0.617	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		4	74	4	74	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237886440	237886440	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:237886440G>A	ENST00000366574.2	+	74	10884	c.10567G>A	c.(10567-10569)Gct>Act	p.A3523T	RYR2_ENST00000542537.1_Missense_Mutation_p.A3507T|RYR2_ENST00000360064.6_Missense_Mutation_p.A3521T|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3523					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.A3521T(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)			GGAGGATCCTGCTATTAGATG	0.393																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(10567-10569)GCT>ACT		cardiac muscle ryanodine receptor							196.0	181.0	186.0					1																	237886440		1862	4103	5965	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.chr1:237886440G>A	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.10567G>A	1.37:g.237886440G>A	ENSP00000355533:p.Ala3523Thr					RYR2_uc010pxz.1_Missense_Mutation_p.A478T	p.A3523T	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		74	10687	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3523					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.10567G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917627	0.73098	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96651	-4.08;-4.05;-4.08	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000010	D	0.95614	0.8574	L	0.35487	1.065	0.80722	D	1	D	0.69078	0.997	P	0.59171	0.853	D	0.93623	0.6949	10	0.23302	T	0.38	.	14.7798	0.69756	0.0:0.0:0.8557:0.1443	.	3523	Q92736	RYR2_HUMAN	T	3523;3521;3507;478	ENSP00000355533:A3523T;ENSP00000353174:A3521T;ENSP00000443798:A3507T	ENSP00000353174:A3521T	A	+	1	0	RYR2	235953063	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.503000	0.81632	2.800000	0.96347	0.455000	0.32223	GCT		PASS	0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		53	200	53	200	---	---	---	---
OR2L13	284521	broad.mit.edu	37	1	248263470	248263470	+	Missense_Mutation	SNP	C	C	T	rs553614392		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr1:248263470C>T	ENST00000358120.2	+	2	938	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	OR2L13_ENST00000366478.2_Missense_Mutation_p.R265C			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	265			R -> H (in dbSNP:rs45577033).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R265C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CAGGAATCTCCGCTCACCAGC	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16425	0.0		0.0	False		,,,				2504	0.0					uc001ids.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(793-795)CGC>TGC		olfactory receptor, family 2, subfamily L,							116.0	116.0	116.0					1																	248263470		2203	4300	6503	SO:0001583	missense	284521				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	g.chr1:248263470C>T	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.793C>T	1.37:g.248263470C>T	ENSP00000350836:p.Arg265Cys						p.R265C	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0132)		3	1130	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		265			Extracellular (Potential).		Q5VUR5	Missense_Mutation	SNP	ENST00000358120.2	37	c.793C>T	CCDS1637.1	.	.	.	.	.	.	.	.	.	.	C	4.594	0.110371	0.08780	.	.	ENSG00000196071	ENST00000366478;ENST00000358120	T;T	0.00137	8.68;8.68	4.21	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.152382	0.30901	N	0.008641	T	0.00178	0.0005	M	0.74881	2.28	0.09310	N	1	B	0.17852	0.024	B	0.14023	0.01	T	0.47446	-0.9117	10	0.72032	D	0.01	.	4.2613	0.10742	0.314:0.5074:0.0:0.1787	.	265	Q8N349	OR2LD_HUMAN	C	265	ENSP00000355434:R265C;ENSP00000350836:R265C	ENSP00000350836:R265C	R	+	1	0	OR2L13	246330093	0.000000	0.05858	0.002000	0.10522	0.120000	0.20174	-0.513000	0.06305	0.067000	0.16545	-0.188000	0.12872	CGC		PASS	0.473	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097342.1	NM_175911		38	107	38	107	---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	10050867	10050867	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:10050867G>A	ENST00000263663.5	+	10	1146	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	TAF1B_ENST00000396242.3_Missense_Mutation_p.E65K	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	320	C-terminal cyclin fold.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.E320K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTCTTCAGATGAAATGCATAG	0.328																																						uc002qzz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(958-960)GAA>AAA		TBP-associated factor 1B							100.0	90.0	93.0					2																	10050867		2203	4300	6503	SO:0001583	missense	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:10050867G>A	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.958G>A	2.37:g.10050867G>A	ENSP00000263663:p.Glu320Lys					TAF1B_uc010exc.2_Missense_Mutation_p.E320K|TAF1B_uc002qzy.3_Missense_Mutation_p.E320K|TAF1B_uc010yja.1_Missense_Mutation_p.E65K|TAF1B_uc010exd.2_Missense_Mutation_p.E65K	p.E320K	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN			10	1058	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		320					B4DI42|F8WD72|Q15574|Q8WVC3	Missense_Mutation	SNP	ENST00000263663.5	37	c.958G>A	CCDS33143.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357642	0.82243	.	.	ENSG00000115750	ENST00000263663;ENST00000396242	T;T	0.03745	3.82;3.82	5.8	5.8	0.92144	.	0.048510	0.85682	D	0.000000	T	0.19087	0.0458	M	0.76574	2.34	0.54753	D	0.99998	D;D	0.69078	0.996;0.997	P;D	0.68353	0.907;0.957	T	0.00033	-1.2269	9	.	.	.	-37.3633	20.0566	0.97653	0.0:0.0:1.0:0.0	.	320;320	Q53T94;Q53T94-2	TAF1B_HUMAN;.	K	320;65	ENSP00000263663:E320K;ENSP00000379542:E65K	.	E	+	1	0	TAF1B	9968318	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.778000	0.75043	2.750000	0.94351	0.467000	0.42956	GAA		PASS	0.328	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		5	64	5	64	---	---	---	---
NT5C1B	93034	broad.mit.edu	37	2	18768395	18768395	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:18768395G>C	ENST00000359846.2	-	3	242	c.165C>G	c.(163-165)ccC>ccG	p.P55P	NT5C1B-RDH14_ENST00000532967.1_Silent_p.P55P|NT5C1B_ENST00000304081.4_Intron|NT5C1B_ENST00000460052.1_Intron|NT5C1B_ENST00000600945.1_Silent_p.P55P	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1	Q96P26	5NT1B_HUMAN	5'-nucleotidase, cytosolic IB	55					nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.P55P(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GACCCTGGAAGGGGCAACATC	0.547																																						uc002rcz.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(163-165)CCC>CCG		5' nucleotidase, cytosolic IB isoform 1							61.0	49.0	53.0					2																	18768395		2203	4300	6503	SO:0001819	synonymous_variant	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18768395G>C	AF356185	CCDS33149.1, CCDS33150.1	2p24.2	2010-08-13			ENSG00000185013	ENSG00000185013	3.1.3.5		17818	protein-coding gene	gene with protein product		610526				11690631	Standard	NM_033253		Approved	AIRP, CN-IB		Q96P26	OTTHUMG00000151765	ENST00000359846.2:c.165C>G	2.37:g.18768395G>C						NT5C1B_uc002rcy.2_Silent_p.P55P|NT5C1B_uc010exr.2_Intron|NT5C1B_uc010yju.1_Intron|NT5C1B_uc002rda.2_Intron|NT5C1B_uc010yjv.1_Silent_p.P55P|NT5C1B_uc010yjw.1_Intron|NT5C1B_uc010exs.2_Silent_p.P55P|NT5C1B_uc002rdb.1_5'Flank	p.P55P	NM_001002006	NP_001002006	Q96P26	5NT1B_HUMAN			3	269	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	55					B5MCR0|B7ZVX7|Q53RX2|Q8N9W3|Q8NA26|Q96DU5|Q96KE6|Q96M25|Q96SA3	Silent	SNP	ENST00000359846.2	37	c.165C>G	CCDS33150.1																																																																																				PASS	0.547	NT5C1B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323822.1			5	29	5	29	---	---	---	---
DPYSL5	56896	broad.mit.edu	37	2	27167566	27167566	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:27167566G>T	ENST00000288699.6	+	12	1641	c.1483G>T	c.(1483-1485)Gat>Tat	p.D495Y	DPYSL5_ENST00000401478.1_Missense_Mutation_p.D495Y	NM_001253724.1|NM_020134.3	NP_001240653.1|NP_064519.2	Q9BPU6	DPYL5_HUMAN	dihydropyrimidinase-like 5	495					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)|signal transduction (GO:0007165)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.D495Y(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACCTGGGGGATGTCGCTGT	0.567																																						uc002rhu.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1483-1485)GAT>TAT		dihydropyrimidinase-like 5							87.0	83.0	84.0					2																	27167566		2203	4300	6503	SO:0001583	missense	56896				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr2:27167566G>T	AF264015	CCDS1730.1	2p23.3	2008-02-05			ENSG00000157851	ENSG00000157851			20637	protein-coding gene	gene with protein product		608383				10851247, 11034345	Standard	NM_020134		Approved	CRMP5, Ulip6, CRMP-5, CRAM	uc002rhu.4	Q9BPU6	OTTHUMG00000097071	ENST00000288699.6:c.1483G>T	2.37:g.27167566G>T	ENSP00000288699:p.Asp495Tyr					DPYSL5_uc002rhv.3_Missense_Mutation_p.D495Y	p.D495Y	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN			12	1641	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		495					Q8TCL6|Q9NQC4|Q9NRY9	Missense_Mutation	SNP	ENST00000288699.6	37	c.1483G>T	CCDS1730.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497357	0.85069	.	.	ENSG00000157851	ENST00000288699;ENST00000401478	D;D	0.85629	-2.01;-2.01	5.24	5.24	0.73138	.	0.253395	0.44902	D	0.000408	D	0.85401	0.5688	M	0.62723	1.935	0.58432	D	0.999997	B	0.34290	0.447	B	0.37198	0.243	D	0.86564	0.1843	10	0.87932	D	0	-9.5131	17.5986	0.88020	0.0:0.0:1.0:0.0	.	495	Q9BPU6	DPYL5_HUMAN	Y	495	ENSP00000288699:D495Y;ENSP00000385549:D495Y	ENSP00000288699:D495Y	D	+	1	0	DPYSL5	27021070	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	8.956000	0.93066	2.459000	0.83118	0.462000	0.41574	GAT		PASS	0.567	DPYSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214187.2	NM_020134		23	78	23	78	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27801100	27801100	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:27801100A>G	ENST00000408964.2	+	1	1712	c.1661A>G	c.(1660-1662)cAc>cGc	p.H554R		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	554						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.H554R(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)					CCTTCAGAGCACCACACAGGG	0.393																																						uc002rkz.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(1660-1662)CAC>CGC		hypothetical protein LOC84226							68.0	63.0	64.0					2																	27801100		1907	4131	6038	SO:0001583	missense	84226							g.chr2:27801100A>G	AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.1661A>G	2.37:g.27801100A>G	ENSP00000386190:p.His554Arg						p.H554R	NM_032266	NP_115642	Q68DN1	CB016_HUMAN			1	1712	+	Acute lymphoblastic leukemia(172;0.155)		554					B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	ENST00000408964.2	37	c.1661A>G	CCDS42666.1	.	.	.	.	.	.	.	.	.	.	A	7.748	0.702789	0.15172	.	.	ENSG00000221843	ENST00000408964	T	0.04970	3.52	3.85	-0.298	0.12814	.	.	.	.	.	T	0.03915	0.0110	N	0.14661	0.345	0.09310	N	1	B	0.24882	0.113	B	0.28638	0.092	T	0.42899	-0.9424	9	0.87932	D	0	.	4.1726	0.10336	0.3706:0.0:0.1829:0.4465	.	554	Q68DN1	CB016_HUMAN	R	554	ENSP00000386190:H554R	ENSP00000386190:H554R	H	+	2	0	C2orf16	27654604	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.566000	0.05922	-0.020000	0.14032	-0.472000	0.04984	CAC		PASS	0.393	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353292.1	NM_032266		4	74	4	74	---	---	---	---
ALK	238	broad.mit.edu	37	2	29416544	29416544	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:29416544G>A	ENST00000389048.3	-	29	5315	c.4409C>T	c.(4408-4410)gCc>gTc	p.A1470V	ALK_ENST00000431873.1_Missense_Mutation_p.A300V	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1470					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V1471fs*45(1)|p.A1470V(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CCCTTCCACGGCCGGCCCTCT	0.592			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													uc002rmy.2			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	T|Mis|A	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4	neuroblastoma	ALCL|NSCLC|Neuroblastoma	NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2)	2	Substitution - Missense(1)|Deletion - Frameshift(1)	p.V1471fs*45(1)	lung(1)|pancreas(1)	haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1)	1218						c.(4408-4410)GCC>GTC		anaplastic lymphoma kinase precursor	Adenosine triphosphate(DB00171)						91.0	95.0	93.0					2																	29416544		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:29416544G>A	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.4409C>T	2.37:g.29416544G>A	ENSP00000373700:p.Ala1470Val					ALK_uc010ymo.1_Missense_Mutation_p.A402V	p.A1470V	NM_004304	NP_004295	Q9UM73	ALK_HUMAN			29	5316	-	Acute lymphoblastic leukemia(172;0.155)		1470			Cytoplasmic (Potential).		Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.4409C>T	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	g	17.56	3.420373	0.62622	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.77489	-1.1;2.73	5.37	4.5	0.54988	.	0.292808	0.23676	N	0.045679	T	0.71710	0.3372	L	0.31294	0.92	0.09310	N	1	D	0.53151	0.958	P	0.47827	0.558	T	0.64249	-0.6452	10	0.42905	T	0.14	.	12.5522	0.56233	0.0771:0.0:0.9229:0.0	.	1470	Q9UM73	ALK_HUMAN	V	1470;300	ENSP00000373700:A1470V;ENSP00000414027:A300V	ENSP00000373700:A1470V	A	-	2	0	ALK	29270048	0.007000	0.16637	0.008000	0.14137	0.005000	0.04900	1.422000	0.34826	1.274000	0.44362	-0.299000	0.09455	GCC		PASS	0.592	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		4	145	4	145	---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37268374	37268374	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:37268374G>A	ENST00000233099.5	-	19	2853	c.2758C>T	c.(2758-2760)Cat>Tat	p.H920Y	HEATR5B_ENST00000354531.2_Missense_Mutation_p.H920Y	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	920						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.H920Y(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)				ACATAACGATGCAAACAACCA	0.433																																						uc002rpp.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|breast(1)	8						c.(2758-2760)CAT>TAT		HEAT repeat containing 5B							178.0	155.0	163.0					2																	37268374		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37268374G>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.2758C>T	2.37:g.37268374G>A	ENSP00000233099:p.His920Tyr						p.H920Y	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN			19	2854	-		all_hematologic(82;0.21)	920					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.2758C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849927	0.91277	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.08896	3.04;3.04	5.45	5.45	0.79879	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.16085	0.0387	M	0.62088	1.915	0.80722	D	1	P	0.44195	0.828	P	0.44860	0.462	T	0.01121	-1.1445	10	0.33940	T	0.23	-16.8044	19.2841	0.94063	0.0:0.0:1.0:0.0	.	920	Q9P2D3	HTR5B_HUMAN	Y	920	ENSP00000233099:H920Y;ENSP00000346531:H920Y	ENSP00000233099:H920Y	H	-	1	0	HEATR5B	37121878	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.906000	0.87423	2.535000	0.85469	0.655000	0.94253	CAT		PASS	0.433	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		4	82	4	82	---	---	---	---
HNRNPLL	92906	broad.mit.edu	37	2	38809072	38809072	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:38809072G>T	ENST00000449105.3	-	6	1124	c.785C>A	c.(784-786)cCa>cAa	p.P262Q	HNRNPLL_ENST00000608859.1_Missense_Mutation_p.P262Q|HNRNPLL_ENST00000409636.1_Missense_Mutation_p.P257Q|HNRNPLL_ENST00000378915.3_Missense_Mutation_p.P228Q|HNRNPLL_ENST00000358367.4_Missense_Mutation_p.P262Q|HNRNPLL_ENST00000409328.1_Missense_Mutation_p.P228Q|HNRNPLL_ENST00000410076.1_Missense_Mutation_p.P257Q			Q8WVV9	HNRLL_HUMAN	heterogeneous nuclear ribonucleoprotein L-like	262					mRNA processing (GO:0006397)|positive regulation of RNA splicing (GO:0033120)	membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P262Q(1)									TCCCAAATATGGTTTAGTGTA	0.328																																						uc002rqw.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(784-786)CCA>CAA		heterogeneous nuclear ribonucleoprotein L-like							121.0	119.0	119.0					2																	38809072		2203	4300	6503	SO:0001583	missense	92906				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr2:38809072G>T	BC008217	CCDS46261.1, CCDS1796.2	2p22	2014-02-10		2013-06-12	ENSG00000143889	ENSG00000143889		"""RNA binding motif (RRM) containing"""	25127	protein-coding gene	gene with protein product		611208		HNRPLL		18669861	Standard	NM_138394		Approved		uc021vgc.1	Q8WVV9	OTTHUMG00000102075	ENST00000449105.3:c.785C>A	2.37:g.38809072G>T	ENSP00000390625:p.Pro262Gln					HNRPLL_uc002rqv.2_5'UTR|HNRPLL_uc002rqx.2_Missense_Mutation_p.P257Q	p.P262Q	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN			6	1195	-		all_hematologic(82;0.248)	262					Q53T80|Q5JB51|Q5JB52|Q659B9|Q8IVH5|Q8IVH6|Q96HR5	Missense_Mutation	SNP	ENST00000449105.3	37	c.785C>A		.	.	.	.	.	.	.	.	.	.	G	14.44	2.535584	0.45176	.	.	ENSG00000143889	ENST00000449105;ENST00000409636;ENST00000378915;ENST00000409328;ENST00000358367;ENST00000410076	.	.	.	6.05	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	L	0.55990	1.75	0.54753	D	0.999988	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.995	T	0.78640	-0.2125	9	0.87932	D	0	.	16.4922	0.84205	0.0:0.0:0.868:0.132	.	257;262	C9J9G0;D6W592	.;.	Q	262;257;228;228;262;257	.	ENSP00000351136:P262Q	P	-	2	0	HNRPLL	38662576	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	1.507000	0.48752	0.650000	0.86243	CCA		PASS	0.328	HNRNPLL-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000219887.2	NM_138394		3	68	3	68	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61441575	61441575	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:61441575C>G	ENST00000398571.2	-	68	8378	c.8302G>C	c.(8302-8304)Gag>Cag	p.E2768Q	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2768					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E2768Q(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATCAGCTTCTCAGTTTTGGAA	0.383																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(8302-8304)GAG>CAG		ubiquitin specific protease 34							73.0	70.0	71.0					2																	61441575		1856	4094	5950	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61441575C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8302G>C	2.37:g.61441575C>G	ENSP00000381577:p.Glu2768Gln						p.E2768Q	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		68	8324	-			2768					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.8302G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.480117|4.480117	0.84747|0.84747	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571|ENST00000411912	T|.	0.39406|.	1.08|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.74465|.	0.3720|.	L|L	0.61218|0.61218	1.895|1.895	0.80722|0.80722	D|D	1|1	D|.	0.57899|.	0.981|.	D|.	0.67900|.	0.954|.	T|.	0.70839|.	-0.4763|.	10|.	0.87932|.	D|.	0|.	.|.	20.0109|20.0109	0.97448|0.97448	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2768|.	Q70CQ2|.	UBP34_HUMAN|.	Q|S	2616;2616;2768|527	ENSP00000381577:E2768Q|.	ENSP00000263989:E2616Q|.	E|X	-|-	1|2	0|2	USP34|USP34	61295079|61295079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.792000|7.792000	0.85828|0.85828	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GAG|TGA		PASS	0.383	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			14	54	14	54	---	---	---	---
ARHGAP25	9938	broad.mit.edu	37	2	69046260	69046260	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:69046260C>A	ENST00000295381.3	+	9	1425	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P330T|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P329T|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P337T|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P330T|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P297T|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P30T	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	336	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.P337T(1)|p.P330T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TTCAGGGACTCCTCAGATCCA	0.493																																						uc002seu.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)	4						c.(1006-1008)CCT>ACT		Rho GTPase activating protein 25 isoform a							175.0	191.0	185.0					2																	69046260		2203	4300	6503	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69046260C>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1006C>A	2.37:g.69046260C>A	ENSP00000295381:p.Pro336Thr					ARHGAP25_uc010fdg.2_Missense_Mutation_p.P337T|ARHGAP25_uc010yql.1_Missense_Mutation_p.P297T|ARHGAP25_uc002sev.2_Missense_Mutation_p.P330T|ARHGAP25_uc002sew.2_Missense_Mutation_p.P329T|ARHGAP25_uc002sex.2_Missense_Mutation_p.P330T|ARHGAP25_uc002sey.2_Missense_Mutation_p.P63T	p.P336T	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			9	1370	+			336			Rho-GAP.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1006C>A		.	.	.	.	.	.	.	.	.	.	C	9.785	1.176441	0.21704	.	.	ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000497079;ENST00000543533;ENST00000479844	T;T;T;T;T;T;T	0.41400	1.0;2.82;2.82;1.0;2.82;2.82;2.01	4.97	4.97	0.65823	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.165528	0.53938	D	0.000043	T	0.47488	0.1448	L	0.33189	0.99	0.80722	D	1	B;P;P;P;D;B	0.53312	0.361;0.867;0.867;0.947;0.959;0.007	B;P;P;P;P;B	0.55303	0.177;0.679;0.679;0.773;0.714;0.007	T	0.23904	-1.0175	10	0.31617	T	0.26	.	17.762	0.88467	0.0:1.0:0.0:0.0	.	297;337;330;329;330;336	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331-2;P42331	.;.;.;.;.;RHG25_HUMAN	T	336;337;297;329;330;330;330;321;30	ENSP00000295381:P336T;ENSP00000386911:P337T;ENSP00000420583:P297T;ENSP00000386863:P329T;ENSP00000386241:P330T;ENSP00000417139:P330T;ENSP00000417467:P30T	ENSP00000295381:P336T	P	+	1	0	ARHGAP25	68899764	0.996000	0.38824	1.000000	0.80357	0.987000	0.75469	3.289000	0.51747	2.737000	0.93849	0.563000	0.77884	CCT		PASS	0.493	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		19	314	19	314	---	---	---	---
SMYD1	150572	broad.mit.edu	37	2	88407937	88407937	+	Missense_Mutation	SNP	G	G	C	rs146456865	byFrequency	TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:88407937G>C	ENST00000419482.2	+	9	1278	c.1193G>C	c.(1192-1194)cGg>cCg	p.R398P	SMYD1_ENST00000444564.2_Missense_Mutation_p.R385P|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	398					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.R398P(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GCCGTGATGCGGGCAGGGCTG	0.542																																						uc002ssr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1192-1194)CGG>CCG		SET and MYND domain containing 1							122.0	96.0	105.0					2																	88407937		2203	4300	6503	SO:0001583	missense	150572				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr2:88407937G>C	AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.1193G>C	2.37:g.88407937G>C	ENSP00000393453:p.Arg398Pro					SMYD1_uc002ssq.1_Intron|SMYD1_uc002sss.2_Missense_Mutation_p.R94P	p.R398P	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN			9	1195	+			398					A0AV30|A6NE13	Missense_Mutation	SNP	ENST00000419482.2	37	c.1193G>C	CCDS33240.1	.	.	.	.	.	.	.	.	.	.	g	24.9	4.579417	0.86645	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000295833	T;T	0.25085	1.82;1.83	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57906	-0.7730	10	0.72032	D	0.01	-25.5171	17.1527	0.86781	0.0:0.0:1.0:0.0	.	398	Q8NB12	SMYD1_HUMAN	P	398;385;219	ENSP00000393453:R398P;ENSP00000407888:R385P	ENSP00000295833:R219P	R	+	2	0	SMYD1	88189052	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.468000	0.97676	2.288000	0.76882	0.454000	0.30748	CGG		PASS	0.542	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338229.2	XM_097915		4	68	4	68	---	---	---	---
TUBA3E	112714	broad.mit.edu	37	2	130951855	130951855	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:130951855G>A	ENST00000312988.7	-	4	660	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	187					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.S187F(1)		endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GGTTAGGATGGAGTTGTAGGG	0.532																																						uc002tqv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(559-561)TCC>TTC		tubulin, alpha 3e							108.0	111.0	110.0					2																	130951855		2147	4190	6337	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951855G>A	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.560C>T	2.37:g.130951855G>A	ENSP00000318197:p.Ser187Phe						p.S187F	NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN			4	661	-	Colorectal(110;0.1)		187						Missense_Mutation	SNP	ENST00000312988.7	37	c.560C>T	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.372408	0.42003	.	.	ENSG00000152086	ENST00000312988	T	0.72282	-0.64	2.71	2.71	0.32032	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.49916	U	0.000135	D	0.87676	0.6237	H	0.96576	3.845	0.49213	D	0.999762	D	0.57571	0.98	D	0.75020	0.985	D	0.90276	0.4311	10	0.87932	D	0	.	11.1953	0.48709	0.0:0.0:1.0:0.0	.	187	Q6PEY2	TBA3E_HUMAN	F	187	ENSP00000318197:S187F	ENSP00000318197:S187F	S	-	2	0	TUBA3E	130668325	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.330000	0.90019	1.540000	0.49301	0.449000	0.29647	TCC		PASS	0.532	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		21	201	21	201	---	---	---	---
TNFAIP6	7130	broad.mit.edu	37	2	152214240	152214240	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:152214240C>T	ENST00000243347.3	+	1	135	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	20					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)	p.F20F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	GATGGGGATTCAAGGATGGAA	0.388																																						uc002txk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(58-60)TTC>TTT		tumor necrosis factor, alpha-induced protein 6							158.0	152.0	154.0					2																	152214240		2203	4300	6503	SO:0001819	synonymous_variant	7130				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	g.chr2:152214240C>T		CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.60C>T	2.37:g.152214240C>T							p.F20F	NM_007115	NP_009046	P98066	TSG6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.131)	1	136	+			20					Q53TI7|Q8WWI9	Silent	SNP	ENST00000243347.3	37	c.60C>T	CCDS2193.1																																																																																				PASS	0.388	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254834.2	NM_007115		11	102	11	102	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160755255	160755255	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:160755255G>C	ENST00000263636.4	-	2	437	c.410C>G	c.(409-411)tCt>tGt	p.S137C	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.S137C|LY75_ENST00000554112.1_Missense_Mutation_p.S137C|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.S137C|LY75_ENST00000553424.1_Missense_Mutation_p.S137C	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	137	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.S137C(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		CCAGACATCAGATGCATTTGA	0.517																																						uc002ubc.3																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)TCT>TGT		lymphocyte antigen 75 precursor							101.0	93.0	96.0					2																	160755255		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160755255G>C	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.410C>G	2.37:g.160755255G>C	ENSP00000263636:p.Ser137Cys					LY75_uc002ubb.3_Missense_Mutation_p.S137C|LY75_uc010fos.2_Missense_Mutation_p.S137C|LY75_uc010fot.1_Missense_Mutation_p.S137C	p.S137C	NM_002349	NP_002340	O60449	LY75_HUMAN		COAD - Colon adenocarcinoma(177;0.132)	2	479	-			137			Extracellular (Potential).|Ricin B-type lectin.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.410C>G	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752550	0.69533	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.92	5.92	0.95590	Ricin B-related lectin (1);Ricin B lectin (1);	0.235526	0.21936	N	0.066958	T	0.68430	0.3000	M	0.80183	2.485	0.39559	D	0.969105	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.68039	0.946;0.935;0.955	T	0.71337	-0.4623	10	0.72032	D	0.01	-13.726	20.3248	0.98698	0.0:0.0:1.0:0.0	.	137;137;137	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	C	137	ENSP00000451511:S137C;ENSP00000451446:S137C;ENSP00000263636:S137C;ENSP00000423463:S137C;ENSP00000421035:S137C	ENSP00000423463:S137C	S	-	2	0	LY75;LY75-CD302	160463501	0.663000	0.27448	0.980000	0.43619	0.855000	0.48748	3.642000	0.54367	2.818000	0.97014	0.655000	0.94253	TCT		PASS	0.517	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1			6	125	6	125	---	---	---	---
KCNH7	90134	broad.mit.edu	37	2	163393571	163393571	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:163393571G>A	ENST00000332142.5	-	3	426	c.327C>T	c.(325-327)aaC>aaT	p.N109N	KCNH7_ENST00000328032.4_Silent_p.N109N	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	109	PAC.				circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.N109N(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTATGTGAGTGTTACAAATAA	0.333																																					GBM(196;1492 2208 17507 24132 45496)	uc002uch.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)	5						c.(325-327)AAC>AAT		potassium voltage-gated channel, subfamily H,	Ibutilide(DB00308)						88.0	86.0	87.0					2																	163393571		2203	4300	6503	SO:0001819	synonymous_variant	90134				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	g.chr2:163393571G>A	AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.327C>T	2.37:g.163393571G>A						KCNH7_uc002uci.2_Silent_p.N109N	p.N109N	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN			3	539	-			109			Cytoplasmic (Potential).|PAC.		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	c.327C>T	CCDS2219.1																																																																																				PASS	0.333	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272		5	66	5	66	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170089935	170089935	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:170089935G>A	ENST00000263816.3	-	30	5369	c.5084C>T	c.(5083-5085)tCg>tTg	p.S1695L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1695					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S1695L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGTTGTTTCGAAGGATGAAC	0.468																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(5083-5085)TCG>TTG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						104.0	96.0	99.0					2																	170089935		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170089935G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.5084C>T	2.37:g.170089935G>A	ENSP00000263816:p.Ser1695Leu						p.S1695L	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	30	5297	-			1695			LDL-receptor class B 14.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.5084C>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917274	0.33815	.	.	ENSG00000081479	ENST00000263816	D	0.90844	-2.74	5.05	-0.839	0.10759	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	1.031530	0.07633	N	0.928947	T	0.79370	0.4434	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61662	-0.7017	10	0.17369	T	0.5	.	10.1544	0.42814	0.7833:0.0:0.2167:0.0	.	1695	P98164	LRP2_HUMAN	L	1695	ENSP00000263816:S1695L	ENSP00000263816:S1695L	S	-	2	0	LRP2	169798181	0.417000	0.25432	0.001000	0.08648	0.510000	0.34073	2.859000	0.48364	-0.153000	0.11137	-0.143000	0.13931	TCG		PASS	0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		11	75	11	75	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:178098810C>G	ENST00000397062.3	-	2	789	c.235G>C	c.(235-237)Gag>Cag	p.E79Q	NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>CAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>C	2.37:g.178098810C>G	ENSP00000380252:p.Glu79Gln	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63Q|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63Q|NFE2L2_uc002uli.3_Missense_Mutation_p.E63Q|NFE2L2_uc010fra.2_Missense_Mutation_p.E63Q|NFE2L2_uc010frb.2_Missense_Mutation_p.E63Q	p.E79Q	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647218	0.67358	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.996;0.994;0.998;0.996	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	Q	63;79;63;63;63;63;63	ENSP00000380253:E63Q;ENSP00000380252:E79Q;ENSP00000411575:E63Q;ENSP00000391590:E63Q;ENSP00000400073:E63Q;ENSP00000412191:E63Q;ENSP00000410015:E63Q	ENSP00000380252:E79Q	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		PASS	0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		10	90	10	90	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179438359	179438359	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:179438359C>G	ENST00000591111.1	-	276	67801	c.67577G>C	c.(67576-67578)aGa>aCa	p.R22526T	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15294T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15227T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24167T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15102T|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21599T|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	22526	Fibronectin type-III 63. {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.R15294T(1)|p.R21597T(1)|p.R21599T(1)|p.R15227T(1)|p.R15102T(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)			CCATGCCAATCTGCTGGTTTC	0.413																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(64795-64797)AGA>ACA		titin isoform N2-A							278.0	274.0	276.0					2																	179438359		1935	4140	6075	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179438359C>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.67577G>C	2.37:g.179438359C>G	ENSP00000465570:p.Arg22526Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15294T|TTN_uc010zfi.1_Missense_Mutation_p.R15227T|TTN_uc010zfj.1_Missense_Mutation_p.R15102T	p.R21599T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	65020	-			22526					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.64796G>C		.	.	.	.	.	.	.	.	.	.	C	12.73	2.025939	0.35701	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	6.08	5.19	0.71726	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.64527	0.2606	L	0.52573	1.65	0.58432	D	0.999997	D;D;D;D	0.58268	0.982;0.982;0.982;0.967	P;P;P;P	0.59825	0.864;0.864;0.864;0.76	T	0.68239	-0.5461	9	0.87932	D	0	.	15.784	0.78289	0.0:0.9343:0.0:0.0657	.	15102;15227;15294;22526	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	21599;15102;15294;15227;15100	ENSP00000343764:R21599T;ENSP00000434586:R15102T;ENSP00000340554:R15294T;ENSP00000352154:R15227T	ENSP00000340554:R15294T	R	-	2	0	TTN	179146605	1.000000	0.71417	0.894000	0.35097	0.991000	0.79684	7.818000	0.86416	1.558000	0.49541	0.655000	0.94253	AGA		PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		7	458	7	458	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179486014	179486014	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:179486014G>C	ENST00000591111.1	-	196	40732	c.40508C>G	c.(40507-40509)tCa>tGa	p.S13503*	TTN_ENST00000342175.6_Nonsense_Mutation_p.S6271*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.S6204*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.S15144*|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.S6079*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.S12576*|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13503	Ig-like 91.				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.S12576*(2)|p.S6271*(1)|p.S6204*(1)|p.S6079*(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)			GCTTTCTTTTGATATAGAGCA	0.383																																						uc010zfg.1																			5	Substitution - Nonsense(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.(37726-37728)TCA>TGA		titin isoform N2-A							121.0	105.0	110.0					2																	179486014		1834	4074	5908	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179486014G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40508C>G	2.37:g.179486014G>C	ENSP00000465570:p.Ser13503*					TTN_uc010zfh.1_Nonsense_Mutation_p.S6271*|TTN_uc010zfi.1_Nonsense_Mutation_p.S6204*|TTN_uc010zfj.1_Nonsense_Mutation_p.S6079*	p.S12576*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		195	37951	-			13503					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.37727C>G		.	.	.	.	.	.	.	.	.	.	G	58	32.393408	0.99980	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	12576;6079;6271;6204;6079	.	ENSP00000340554:S6271X	S	-	2	0	TTN	179194259	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	TCA		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	47	4	47	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202149860	202149860	+	Nonsense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:202149860C>G	ENST00000432109.2	+	9	1313	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000358485.4_Nonsense_Mutation_p.S434*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.S291*|CASP8_ENST00000264275.5_Nonsense_Mutation_p.S392*|CASP8_ENST00000323492.7_Nonsense_Mutation_p.S360*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	375					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.S392*(3)|p.S434*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GAGACTGATTCAGAGGAGCAA	0.448										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1																			4	Substitution - Nonsense(4)		lung(3)|upper_aerodigestive_tract(1)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(1123-1125)TCA>TGA		caspase 8 isoform B precursor							84.0	83.0	83.0					2																	202149860		2203	4300	6503	SO:0001587	stop_gained	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202149860C>G	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1124C>G	2.37:g.202149860C>G	ENSP00000412523:p.Ser375*	HNSCC(4;0.00038)				CASP8_uc002uxp.1_Nonsense_Mutation_p.S392*|CASP8_uc002uxq.1_Nonsense_Mutation_p.S360*|CASP8_uc002uxt.1_Nonsense_Mutation_p.S434*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.S360*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.S291*	p.S375*	NM_033355	NP_203519	Q14790	CASP8_HUMAN			9	1333	+			375					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1124C>G	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165091	0.78339	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.82	3.91	0.45181	.	2.877110	0.00986	N	0.003446	.	.	.	.	.	.	0.26681	N	0.971539	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	5.0776	0.14640	0.1501:0.6251:0.1454:0.0794	.	.	.	.	X	360;291;375;392;434;360;154	.	ENSP00000264274:S291X	S	+	2	0	CASP8	201858105	0.853000	0.29707	0.904000	0.35570	0.533000	0.34776	1.540000	0.36115	1.440000	0.47531	0.561000	0.74099	TCA		PASS	0.448	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		11	114	11	114	---	---	---	---
RAPH1	65059	broad.mit.edu	37	2	204305815	204305815	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:204305815G>A	ENST00000319170.5	-	14	2397	c.2098C>T	c.(2098-2100)Cag>Tag	p.Q700*	RAPH1_ENST00000374493.3_Nonsense_Mutation_p.Q752*|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	700					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.Q700*(1)		breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACCAGGATCTGAGGCTTCACT	0.597																																						uc002vad.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(2098-2100)CAG>TAG		Ras association and pleckstrin homology domains							52.0	53.0	53.0					2																	204305815		2203	4299	6502	SO:0001587	stop_gained	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204305815G>A	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.2098C>T	2.37:g.204305815G>A	ENSP00000316543:p.Gln700*						p.Q700*	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			14	2323	-			700					Q96Q37|Q9C0I2	Nonsense_Mutation	SNP	ENST00000319170.5	37	c.2098C>T	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139188	0.94560	.	.	ENSG00000173166	ENST00000319170;ENST00000374493	.	.	.	2.1	2.1	0.27182	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	9.8725	0.41182	0.0:0.0:1.0:0.0	.	.	.	.	X	700;752	.	ENSP00000316543:Q700X	Q	-	1	0	RAPH1	204014060	0.897000	0.30589	0.898000	0.35279	0.729000	0.41735	3.029000	0.49712	1.476000	0.48215	0.305000	0.20034	CAG		PASS	0.597	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252		11	58	11	58	---	---	---	---
PLEKHM3	389072	broad.mit.edu	37	2	208841936	208841936	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:208841936G>A	ENST00000427836.2	-	3	1474	c.985C>T	c.(985-987)Cat>Tat	p.H329Y	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.H329Y|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.H329Y	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	329					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)	p.H329Y(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCATCATGATGGCCAAGCCCT	0.527																																						uc002vcl.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(985-987)CAT>TAT		pleckstrin homology domain containing, family M,							113.0	113.0	113.0					2																	208841936		2029	4191	6220	SO:0001583	missense	389072				intracellular signal transduction		metal ion binding	g.chr2:208841936G>A	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.985C>T	2.37:g.208841936G>A	ENSP00000417003:p.His329Tyr					PLEKHM3_uc002vcm.2_Missense_Mutation_p.H329Y	p.H329Y	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			3	1475	-			329					B9EKV2|Q8WW68	Missense_Mutation	SNP	ENST00000427836.2	37	c.985C>T	CCDS42808.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.611|2.611	-0.290719|-0.290719	0.05568|0.05568	.|.	.|.	ENSG00000178385|ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206|ENST00000447645	T;T;T|.	0.11712|.	2.75;2.75;2.75|.	5.82|5.82	2.6|2.6	0.31112|0.31112	.|.	0.613133|.	0.17179|.	N|.	0.183955|.	T|T	0.20941|0.20941	0.0504|0.0504	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.16217|0.16217	-1.0410|-1.0410	10|5	0.72032|.	D|.	0.01|.	.|.	3.2272|3.2272	0.06736|0.06736	0.0912:0.1823:0.4792:0.2473|0.0912:0.1823:0.4792:0.2473	.|.	329;329|.	C9J119;Q6ZWE6|.	.;PKHM3_HUMAN|.	Y|L	329|80	ENSP00000417003:H329Y;ENSP00000373899:H329Y;ENSP00000400150:H329Y|.	ENSP00000373899:H329Y|.	H|P	-|-	1|2	0|0	PLEKHM3|PLEKHM3	208550181|208550181	0.944000|0.944000	0.32072|0.32072	0.336000|0.336000	0.25522|0.25522	0.043000|0.043000	0.13939|0.13939	2.670000|2.670000	0.46833|0.46833	1.330000|1.330000	0.45394|0.45394	0.655000|0.655000	0.94253|0.94253	CAT|CCA		PASS	0.527	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475		11	115	11	115	---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218713332	218713332	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr2:218713332G>C	ENST00000171887.4	-	17	1985	c.1533C>G	c.(1531-1533)caC>caG	p.H511Q	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000419504.1_Missense_Mutation_p.H511Q|TNS1_ENST00000430930.1_Missense_Mutation_p.H511Q	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	511					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.H636Q(1)|p.H511Q(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TGCCCGCACTGTGACCATCCT	0.607																																						uc002vgt.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(1531-1533)CAC>CAG		tensin							89.0	86.0	87.0					2																	218713332		2203	4300	6503	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218713332G>C	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1533C>G	2.37:g.218713332G>C	ENSP00000171887:p.His511Gln					TNS1_uc002vgr.2_Missense_Mutation_p.H511Q|TNS1_uc002vgs.2_Missense_Mutation_p.H511Q|TNS1_uc010zjv.1_Missense_Mutation_p.H511Q|TNS1_uc010fvj.1_Missense_Mutation_p.H579Q|TNS1_uc010fvk.1_Missense_Mutation_p.H636Q|TNS1_uc010fvi.1_Missense_Mutation_p.H198Q	p.H511Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	1931	-		Renal(207;0.0483)|Lung NSC(271;0.213)	511					Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1533C>G	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	6.434	0.448236	0.12223	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.94497	-3.0;-2.99;-3.0;-3.44	4.63	0.529	0.17095	.	0.106753	0.64402	N	0.000005	D	0.88489	0.6450	L	0.39147	1.195	0.80722	D	1	B;B;B;B;B	0.13594	0.008;0.003;0.008;0.001;0.003	B;B;B;B;B	0.13407	0.003;0.009;0.004;0.004;0.002	T	0.76626	-0.2890	10	0.23891	T	0.37	.	7.3833	0.26868	0.1478:0.2669:0.5853:0.0	.	511;565;511;511;511	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	Q	511;511;511;636	ENSP00000171887:H511Q;ENSP00000408724:H511Q;ENSP00000406016:H511Q;ENSP00000405460:H636Q	ENSP00000171887:H511Q	H	-	3	2	TNS1	218421577	1.000000	0.71417	0.993000	0.49108	0.038000	0.13279	4.250000	0.58772	-0.012000	0.14223	-0.136000	0.14681	CAC		PASS	0.607	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		22	79	22	79	---	---	---	---
TMPPE	643853	broad.mit.edu	37	3	33134446	33134446	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:33134446G>C	ENST00000342462.4	-	2	1432	c.1242C>G	c.(1240-1242)ctC>ctG	p.L414L	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Silent_p.L277L|GLB1_ENST00000307363.5_Intron	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	414						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.L414L(1)		breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CCACCTGGTAGAGACCAGCAA	0.552																																						uc003cfk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1240-1242)CTC>CTG		transmembrane protein with							95.0	87.0	90.0					3																	33134446		2203	4300	6503	SO:0001819	synonymous_variant	643853					integral to membrane	metal ion binding	g.chr3:33134446G>C	AK126979	CCDS33732.1, CCDS46786.1	3p22.3	2014-02-12	2009-02-24		ENSG00000188167	ENSG00000188167			33865	protein-coding gene	gene with protein product							Standard	NM_001039770		Approved	FLJ45032	uc003cfk.2	Q6ZT21	OTTHUMG00000155779	ENST00000342462.4:c.1242C>G	3.37:g.33134446G>C						GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.L277L	p.L414L	NM_001039770	NP_001034859	Q6ZT21	TMPPE_HUMAN			2	1433	-			414					B2RNG5|Q6ZRG1	Silent	SNP	ENST00000342462.4	37	c.1242C>G	CCDS33732.1																																																																																				PASS	0.552	TMPPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341566.1	NM_001039770		3	52	3	52	---	---	---	---
TGM4	7047	broad.mit.edu	37	3	44945440	44945440	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:44945440T>C	ENST00000296125.4	+	9	1104	c.1036T>C	c.(1036-1038)Tgg>Cgg	p.W346R		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	346					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.W346R(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)	CTACGACGGCTGGCAGGCTGT	0.642																																						uc003coc.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1036-1038)TGG>CGG		transglutaminase 4 (prostate)	L-Glutamine(DB00130)						83.0	87.0	86.0					3																	44945440		2203	4300	6503	SO:0001583	missense	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44945440T>C	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.1036T>C	3.37:g.44945440T>C	ENSP00000296125:p.Trp346Arg						p.W346R	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)	9	1109	+			346					Q16707|Q96QN4	Missense_Mutation	SNP	ENST00000296125.4	37	c.1036T>C	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.157494	0.57368	.	.	ENSG00000163810	ENST00000296125	D	0.94138	-3.36	2.04	2.04	0.26737	Transglutaminase-like (2);	0.000000	0.43919	U	0.000516	D	0.97158	0.9071	H	0.95260	3.645	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.96672	0.9497	10	0.87932	D	0	.	10.0658	0.42303	0.0:0.0:0.0:1.0	.	346	P49221	TGM4_HUMAN	R	346	ENSP00000296125:W346R	ENSP00000296125:W346R	W	+	1	0	TGM4	44920444	1.000000	0.71417	0.270000	0.24601	0.044000	0.14063	3.760000	0.55235	0.860000	0.35481	0.379000	0.24179	TGG		PASS	0.642	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		12	125	12	125	---	---	---	---
CDCP1	64866	broad.mit.edu	37	3	45152242	45152242	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:45152242G>A	ENST00000296129.1	-	4	881	c.747C>T	c.(745-747)ctC>ctT	p.L249L	CDCP1_ENST00000490471.1_5'Flank|CDCP1_ENST00000425231.2_Silent_p.L249L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	249						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L249L(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GCCACGTCATGAGCTCATCCT	0.552																																						uc003com.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(745-747)CTC>CTT		CUB domain-containing protein 1 isoform 1							149.0	141.0	143.0					3																	45152242		2203	4300	6503	SO:0001819	synonymous_variant	64866					extracellular region|integral to membrane|plasma membrane		g.chr3:45152242G>A	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.747C>T	3.37:g.45152242G>A						CDCP1_uc003con.2_Silent_p.L249L	p.L249L	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)	4	882	-			249			Extracellular (Potential).		Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Silent	SNP	ENST00000296129.1	37	c.747C>T	CCDS2727.1																																																																																				PASS	0.552	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842		13	190	13	190	---	---	---	---
TMIE	259236	broad.mit.edu	37	3	46750623	46750623	+	Silent	SNP	G	G	A	rs202208051	byFrequency	TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:46750623G>A	ENST00000326431.3	+	3	374	c.219G>A	c.(217-219)acG>acA	p.T73T		NM_147196.2	NP_671729.2	Q8NEW7	TMIE_HUMAN	transmembrane inner ear	73					inner ear morphogenesis (GO:0042472)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.T73T(1)		endometrium(1)|lung(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		CAGTCATCACGCTGTGCTGTG	0.612													g|||	6	0.00119808	0.003	0.0029	5008	,	,		20296	0.0		0.0	False		,,,				2504	0.0					uc010hjk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(217-219)ACG>ACA		transmembrane inner ear protein precursor		G		6,4220		0,6,2107	67.0	74.0	72.0		219	-2.0	1.0	3		72	1,8457		0,1,4228	no	coding-synonymous	TMIE	NM_147196.2		0,7,6335	AA,AG,GG		0.0118,0.142,0.0552		73/157	46750623	7,12677	2113	4229	6342	SO:0001819	synonymous_variant	259236					integral to membrane		g.chr3:46750623G>A	AY081842	CCDS43081.1	3p21	2010-01-06	2004-05-19		ENSG00000181585	ENSG00000181585			30800	protein-coding gene	gene with protein product		607237	"""deafness, autosomal recessive 6"""	DFNB6		12140191, 12145746	Standard	NM_147196		Approved		uc010hjk.1	Q8NEW7	OTTHUMG00000149909	ENST00000326431.3:c.219G>A	3.37:g.46750623G>A						TMIE_uc010hjj.1_Missense_Mutation_p.A113T	p.T73T	NM_147196	NP_671729	Q8NEW7	TMIE_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)	3	374	+			73			Helical; (Potential).		A0AV93|A8K0R0	Silent	SNP	ENST00000326431.3	37	c.219G>A	CCDS43081.1																																																																																				PASS	0.612	TMIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313853.1	NM_147196		4	62	4	62	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48602858	48602858	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:48602858G>A	ENST00000328333.8	-	115	8619	c.8512C>T	c.(8512-8514)Cat>Tat	p.H2838Y	COL7A1_ENST00000454817.1_Missense_Mutation_p.H2806Y|UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000470076.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2838	Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.H2838Y(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTCTGCATGAGAGACGCGG	0.642																																						uc003ctz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(8512-8514)CAT>TAT		alpha 1 type VII collagen precursor							29.0	31.0	30.0					3																	48602858		2203	4299	6502	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48602858G>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8512C>T	3.37:g.48602858G>A	ENSP00000332371:p.His2838Tyr					UCN2_uc003cty.1_5'Flank	p.H2838Y	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	115	8513	-			2838			Nonhelical region (NC2).		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8512C>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	G	8.288	0.817015	0.16607	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.86030	-2.06;-2.06	4.73	4.73	0.59995	.	0.000000	0.45361	D	0.000377	T	0.81763	0.4891	L	0.27053	0.805	0.34614	D	0.717937	D	0.53885	0.963	P	0.49999	0.628	D	0.87153	0.2210	10	0.56958	D	0.05	.	13.0656	0.59032	0.0:0.0:1.0:0.0	.	2838	Q02388	CO7A1_HUMAN	Y	2838;2806	ENSP00000332371:H2838Y;ENSP00000412569:H2806Y	ENSP00000332371:H2838Y	H	-	1	0	COL7A1	48577862	0.997000	0.39634	0.921000	0.36526	0.203000	0.24098	5.001000	0.63946	2.471000	0.83476	0.467000	0.42956	CAT		PASS	0.642	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		4	17	4	17	---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51392382	51392382	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:51392382G>C	ENST00000266037.9	+	41	4200	c.4177G>C	c.(4177-4179)Gag>Cag	p.E1393Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1393	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E1393Q(1)|p.E1382Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GATGCTCAGTGAGTTTCCGCA	0.552																																						uc011bds.1																			2	Substitution - Missense(2)		lung(2)		0						c.(4177-4179)GAG>CAG		dedicator of cytokinesis 3							113.0	121.0	118.0					3																	51392382		2121	4217	6338	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51392382G>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4177G>C	3.37:g.51392382G>C	ENSP00000266037:p.Glu1393Gln						p.E1393Q	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	41	4200	+			1393			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4177G>C	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497470	0.64186	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.04706	3.57	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.06050	0.0157	N	0.11313	0.125	0.80722	D	1	P	0.40660	0.726	P	0.47786	0.557	T	0.58758	-0.7580	10	0.15952	T	0.53	.	19.8677	0.96824	0.0:0.0:1.0:0.0	.	1393	Q8IZD9	DOCK3_HUMAN	Q	1393;189	ENSP00000266037:E1393Q	ENSP00000266037:E1393Q	E	+	1	0	DOCK3	51367422	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	9.860000	0.99555	2.709000	0.92574	0.655000	0.94253	GAG		PASS	0.552	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		6	121	6	121	---	---	---	---
STX19	415117	broad.mit.edu	37	3	93733279	93733279	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:93733279G>T	ENST00000315099.2	-	2	1091	c.835C>A	c.(835-837)Cct>Act	p.P279T	ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000394222.3_Intron|ARL13B_ENST00000486562.1_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	279					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	integral component of membrane (GO:0016021)		p.P279T(1)		kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ACTCTGCAAGGATTTCTTTTT	0.318																																						uc003drh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(835-837)CCT>ACT		syntaxin 19							54.0	53.0	53.0					3																	93733279		2203	4297	6500	SO:0001583	missense	415117				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity	g.chr3:93733279G>T	AF461456	CCDS33793.1	3q11	2005-12-30			ENSG00000178750	ENSG00000178750			19300	protein-coding gene	gene with protein product							Standard	NM_001001850		Approved	MGC21382	uc003drh.1	Q8N4C7	OTTHUMG00000159013	ENST00000315099.2:c.835C>A	3.37:g.93733279G>T	ENSP00000320679:p.Pro279Thr					ARL13B_uc003drc.2_Intron|ARL13B_uc010hop.2_Intron|ARL13B_uc003drd.2_Intron|ARL13B_uc003dre.2_Intron|ARL13B_uc003drf.2_Intron|ARL13B_uc003drg.2_Intron	p.P279T	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN			2	1092	-			279						Missense_Mutation	SNP	ENST00000315099.2	37	c.835C>A	CCDS33793.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059581	0.76074	.	.	ENSG00000178750	ENST00000315099	T	0.41758	0.99	5.04	5.04	0.67666	.	0.053775	0.85682	D	0.000000	T	0.62624	0.2443	M	0.80422	2.495	0.80722	D	1	D	0.63880	0.993	P	0.55615	0.78	T	0.67783	-0.5581	10	0.62326	D	0.03	-3.2704	19.2736	0.94021	0.0:0.0:1.0:0.0	.	279	Q8N4C7	STX19_HUMAN	T	279	ENSP00000320679:P279T	ENSP00000320679:P279T	P	-	1	0	STX19	95215969	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	9.174000	0.94824	2.724000	0.93272	0.650000	0.86243	CCT		PASS	0.318	STX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352909.1	NM_001001850		6	45	6	45	---	---	---	---
CD96	10225	broad.mit.edu	37	3	111356973	111356973	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:111356973A>T	ENST00000283285.5	+	13	1614	c.1483A>T	c.(1483-1485)Act>Tct	p.T495S	CD96_ENST00000352690.4_Missense_Mutation_p.T479S	NM_198196.2	NP_937839.1	P40200	TACT_HUMAN	CD96 molecule	495	Pro/Ser/Thr-rich.				cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T495S(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGTCCCCACAACTGCCAATGG	0.383									Opitz Trigonocephaly syndrome																													uc003dxw.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1483-1485)ACT>TCT		CD96 antigen isoform 1 precursor							180.0	165.0	170.0					3																	111356973		2203	4300	6503	SO:0001583	missense	10225	Opitz_Trigonocephaly_syndrome	Familial Cancer Database	C syndrome, Trigonocephaly syndrome	cell adhesion|immune response|regulation of immune response	integral to plasma membrane		g.chr3:111356973A>T	M88282	CCDS2958.1, CCDS2959.1	3p13-q13.2	2013-01-11	2006-03-28		ENSG00000153283	ENSG00000153283		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16892	protein-coding gene	gene with protein product		606037	"""CD96 antigen"""			1313846	Standard	XR_241462		Approved	TACTILE	uc003dxx.3	P40200	OTTHUMG00000159275	ENST00000283285.5:c.1483A>T	3.37:g.111356973A>T	ENSP00000283285:p.Thr495Ser					CD96_uc003dxx.2_Missense_Mutation_p.T479S|CD96_uc010hpy.1_Missense_Mutation_p.T478S	p.T495S	NM_198196	NP_937839	P40200	TACT_HUMAN			13	1653	+			495			Extracellular (Potential).|Pro/Ser/Thr-rich.		Q5JPB3	Missense_Mutation	SNP	ENST00000283285.5	37	c.1483A>T	CCDS2959.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.563453	0.45694	.	.	ENSG00000153283	ENST00000352690;ENST00000283285	T;T	0.72167	-0.63;-0.63	4.7	2.25	0.28309	.	0.487228	0.19838	N	0.104907	T	0.54498	0.1862	L	0.29908	0.895	0.80722	D	1	B;B;B	0.25563	0.079;0.129;0.079	B;B;B	0.30572	0.055;0.117;0.055	T	0.45145	-0.9281	10	0.45353	T	0.12	-7.0359	4.0389	0.09741	0.7206:0.0:0.0984:0.181	.	478;479;495	E9PEJ1;P40200-2;P40200	.;.;TACT_HUMAN	S	479;495	ENSP00000342040:T479S;ENSP00000283285:T495S	ENSP00000283285:T495S	T	+	1	0	CD96	112839663	0.913000	0.31002	0.992000	0.48379	0.754000	0.42855	0.952000	0.29149	0.372000	0.24591	0.460000	0.39030	ACT		PASS	0.383	CD96-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354312.2			4	118	4	118	---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113847632	113847632	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:113847632G>A	ENST00000460779.1	-	8	1423	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	DRD3_ENST00000295881.7_Silent_p.L345L|DRD3_ENST00000467632.1_Silent_p.L378L|DRD3_ENST00000383673.2_Silent_p.L378L	NM_001282563.1	NP_001269492.1	P35462	DRD3_HUMAN	dopamine receptor D3	378					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.L378L(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)	TCACAGGGTTGAGGGCGCTAT	0.522																																						uc003ebd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1132-1134)CTC>CTT		dopamine receptor D3 isoform a	Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)						310.0	294.0	299.0					3																	113847632		2203	4300	6503	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.chr3:113847632G>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.1134C>T	3.37:g.113847632G>A						DRD3_uc010hqn.1_Silent_p.L378L|DRD3_uc003ebb.1_Silent_p.L345L|DRD3_uc003ebc.1_Silent_p.L378L	p.L378L	NM_000796	NP_000787	P35462	DRD3_HUMAN			8	1557	-			378			Helical; Name=7.		A1A4V5|Q4VBM8	Silent	SNP	ENST00000460779.1	37	c.1134C>T	CCDS2978.1																																																																																				PASS	0.522	DRD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354699.1	NM_000796.3		11	449	11	449	---	---	---	---
CD86	942	broad.mit.edu	37	3	121822377	121822377	+	Missense_Mutation	SNP	T	T	C	rs539519506	byFrequency	TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:121822377T>C	ENST00000330540.2	+	3	199	c.83T>C	c.(82-84)aTt>aCt	p.I28T	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000483949.1_3'UTR|CD86_ENST00000393627.2_Missense_Mutation_p.I22T|CD86_ENST00000493101.1_Intron|CD86_ENST00000264468.5_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	28					aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)	p.I28T(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	CCTCTGAAGATTCAAGCTTAT	0.423																																					GBM(67;1379 1389 36064 39806)	uc003eet.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(82-84)ATT>ACT		CD86 antigen isoform 1	Abatacept(DB01281)						61.0	62.0	62.0					3																	121822377		2203	4300	6503	SO:0001583	missense	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121822377T>C		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.83T>C	3.37:g.121822377T>C	ENSP00000332049:p.Ile28Thr					CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Missense_Mutation_p.I22T	p.I28T	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	3	199	+			28			Extracellular (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	ENST00000330540.2	37	c.83T>C	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	T	4.119	0.020340	0.08006	.	.	ENSG00000114013	ENST00000330540;ENST00000482356;ENST00000393627	T;T;T	0.31247	1.5;1.5;1.5	5.16	-8.25	0.01025	Immunoglobulin-like fold (1);	1.283500	0.05060	N	0.479730	T	0.23572	0.0570	L	0.39566	1.225	0.09310	N	0.999999	B	0.21821	0.061	B	0.28991	0.097	T	0.32824	-0.9892	10	0.30854	T	0.27	-0.2666	10.4011	0.44231	0.0:0.3517:0.1347:0.5136	.	28	P42081	CD86_HUMAN	T	28;22;22	ENSP00000332049:I28T;ENSP00000419116:I22T;ENSP00000377248:I22T	ENSP00000332049:I28T	I	+	2	0	CD86	123305067	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-1.425000	0.02446	-1.280000	0.02402	0.533000	0.62120	ATT		PASS	0.423	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		9	88	9	88	---	---	---	---
KALRN	8997	broad.mit.edu	37	3	124053267	124053267	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:124053267G>C	ENST00000240874.3	+	9	1723	c.1566G>C	c.(1564-1566)gaG>gaC	p.E522D	KALRN_ENST00000460856.1_Missense_Mutation_p.E522D|KALRN_ENST00000360013.3_Missense_Mutation_p.E522D	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	522					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E522D(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACGGCTGGAGAGCATCTGGC	0.622																																						uc003ehg.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(1564-1566)GAG>GAC		kalirin, RhoGEF kinase isoform 1							51.0	53.0	52.0					3																	124053267		2203	4300	6503	SO:0001583	missense	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124053267G>C	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1566G>C	3.37:g.124053267G>C	ENSP00000240874:p.Glu522Asp					KALRN_uc010hrv.1_Missense_Mutation_p.E522D|KALRN_uc003ehf.1_Missense_Mutation_p.E522D|KALRN_uc011bjy.1_Missense_Mutation_p.E522D	p.E522D	NM_001024660	NP_001019831	O60229	KALRN_HUMAN			9	1693	+			522					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	c.1566G>C	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.00|19.00	3.741388|3.741388	0.69304|0.69304	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.36520|.	1.25;1.25;1.25|.	4.97|4.97	3.18|3.18	0.36537|0.36537	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71213|0.71213	0.3313|0.3313	M|M	0.77313|0.77313	2.365|2.365	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.998;0.984;0.999|.	D;D;D|.	0.85130|.	0.992;0.956;0.997|.	T|T	0.70234|0.70234	-0.4928|-0.4928	10|5	0.49607|.	T|.	0.09|.	.|.	10.5265|10.5265	0.44952|0.44952	0.2164:0.0:0.7836:0.0|0.2164:0.0:0.7836:0.0	.|.	522;522;522|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	D|T	522|500	ENSP00000418611:E522D;ENSP00000240874:E522D;ENSP00000353109:E522D|.	ENSP00000240874:E522D|.	E|R	+|+	3|2	2|0	KALRN|KALRN	125535957|125535957	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.844000|0.844000	0.47949|0.47949	4.024000|4.024000	0.57218|0.57218	0.801000|0.801000	0.34066|0.34066	0.655000|0.655000	0.94253|0.94253	GAG|AGA		PASS	0.622	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947		4	85	4	85	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130285672	130285672	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:130285672C>T	ENST00000358511.6	+	4	1440	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	COL6A6_ENST00000453409.2_Missense_Mutation_p.P470L	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	470	Nonhelical region.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P470L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AACATTGCTCCCCATAAGGTG	0.488																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(1408-1410)CCC>CTC		collagen type VI alpha 6 precursor							126.0	127.0	127.0					3																	130285672		1944	4116	6060	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130285672C>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1409C>T	3.37:g.130285672C>T	ENSP00000351310:p.Pro470Leu						p.P470L	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			4	1440	+			470			VWFA 3.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.1409C>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488379	0.84854	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.85171	-1.95;-1.95	5.24	5.24	0.73138	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000014	D	0.91948	0.7450	M	0.70787	2.145	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.92643	0.6126	10	0.72032	D	0.01	.	18.4307	0.90624	0.0:1.0:0.0:0.0	.	470	A6NMZ7	CO6A6_HUMAN	L	470	ENSP00000351310:P470L;ENSP00000399236:P470L	ENSP00000351310:P470L	P	+	2	0	COL6A6	131768362	0.858000	0.29795	0.996000	0.52242	0.736000	0.42039	3.019000	0.49635	2.448000	0.82819	0.561000	0.74099	CCC		PASS	0.488	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		17	184	17	184	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130300468	130300468	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:130300468T>C	ENST00000358511.6	+	8	3642	c.3611T>C	c.(3610-3612)cTt>cCt	p.L1204P	COL6A6_ENST00000453409.2_Missense_Mutation_p.L1204P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1204	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.L1204P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGACTTTGCTTGAAGGTCAG	0.463																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(3610-3612)CTT>CCT		collagen type VI alpha 6 precursor							149.0	140.0	143.0					3																	130300468		2011	4186	6197	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130300468T>C	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3611T>C	3.37:g.130300468T>C	ENSP00000351310:p.Leu1204Pro					COL6A6_uc003eni.3_5'Flank	p.L1204P	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			8	3642	+			1204			VWFA 7.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.3611T>C	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	T	13.40	2.225683	0.39300	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.90324	-2.63;-2.65	6.06	6.06	0.98353	von Willebrand factor, type A (2);	.	.	.	.	D	0.89469	0.6724	N	0.22421	0.69	0.54753	D	0.999983	D	0.60575	0.988	P	0.57371	0.819	D	0.87288	0.2297	9	0.19590	T	0.45	.	15.5919	0.76537	0.0:0.0:0.0:1.0	.	1204	A6NMZ7	CO6A6_HUMAN	P	1204	ENSP00000351310:L1204P;ENSP00000399236:L1204P	ENSP00000351310:L1204P	L	+	2	0	COL6A6	131783158	0.994000	0.37717	0.403000	0.26384	0.044000	0.14063	5.297000	0.65704	2.324000	0.78689	0.533000	0.62120	CTT		PASS	0.463	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		14	170	14	170	---	---	---	---
AMOTL2	51421	broad.mit.edu	37	3	134084662	134084662	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:134084662G>A	ENST00000422605.2	-	5	1442	c.1276C>T	c.(1276-1278)Cag>Tag	p.Q426*	AMOTL2_ENST00000249883.5_Nonsense_Mutation_p.Q426*|AMOTL2_ENST00000511759.1_5'Flank|AMOTL2_ENST00000513145.1_Nonsense_Mutation_p.Q426*|AMOTL2_ENST00000514516.1_Nonsense_Mutation_p.Q484*			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	426					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)		p.Q426*(1)		endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TACTCACTCTGAGCAAGCAGC	0.582																																						uc003eqf.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(1)	1						c.(1450-1452)CAG>TAG		angiomotin like 2							86.0	84.0	85.0					3																	134084662		2203	4300	6503	SO:0001587	stop_gained	51421							g.chr3:134084662G>A	AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1276C>T	3.37:g.134084662G>A	ENSP00000409999:p.Gln426*					AMOTL2_uc003eqg.1_Nonsense_Mutation_p.Q426*|AMOTL2_uc003eqh.1_Nonsense_Mutation_p.Q426*|AMOTL2_uc003eqe.1_Nonsense_Mutation_p.Q51*	p.Q484*	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN			5	1567	-			426			Potential.		A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Nonsense_Mutation	SNP	ENST00000422605.2	37	c.1450C>T		.	.	.	.	.	.	.	.	.	.	G	41	8.552377	0.98859	.	.	ENSG00000114019	ENST00000249883;ENST00000422605;ENST00000514516;ENST00000513145	.	.	.	4.63	4.63	0.57726	.	0.056413	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	17.6746	0.88227	0.0:0.0:1.0:0.0	.	.	.	.	X	426;426;484;426	.	ENSP00000249883:Q426X	Q	-	1	0	AMOTL2	135567352	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.092000	0.76930	2.401000	0.81631	0.305000	0.20034	CAG		PASS	0.582	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358149.1	NM_016201		10	117	10	117	---	---	---	---
U2SURP	23350	broad.mit.edu	37	3	142741417	142741417	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:142741417G>A	ENST00000473835.2	+	11	1021	c.931G>A	c.(931-933)Gat>Aat	p.D311N	U2SURP_ENST00000397933.2_De_novo_Start_InFrame|U2SURP_ENST00000493598.2_Missense_Mutation_p.D310N	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	311	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D311N(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						GCCTAGAACTGATGAAGAAAG	0.363																																						uc003evh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(931-933)GAT>AAT		U2-associated SR140 protein							104.0	103.0	103.0					3																	142741417		1816	4081	5897	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142741417G>A	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.931G>A	3.37:g.142741417G>A	ENSP00000418563:p.Asp311Asn					SR140_uc003evi.1_5'UTR|SR140_uc011bnj.1_Missense_Mutation_p.D311N|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.D310N	p.D311N	NM_001080415	NP_001073884	O15042	SR140_HUMAN			11	1030	+			311			RRM.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.931G>A	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	G	36	5.871209	0.97049	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000493598	T;T	0.73897	-0.79;-0.79	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.84889	0.5572	M	0.62266	1.93	0.80722	D	1	P;D;P	0.71674	0.771;0.998;0.804	P;D;P	0.68765	0.673;0.96;0.718	D	0.85771	0.1355	10	0.72032	D	0.01	-22.2988	19.4415	0.94823	0.0:0.0:1.0:0.0	.	311;310;311	B4DK81;O15042-2;O15042	.;.;SR140_HUMAN	N	311;311;310	ENSP00000418563:D311N;ENSP00000422011:D310N	ENSP00000322376:D311N	D	+	1	0	U2SURP	144224107	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.596000	0.87737	0.555000	0.69702	GAT		PASS	0.363	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		4	154	4	154	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151131013	151131013	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:151131013C>G	ENST00000474524.1	+	40	6160	c.6122C>G	c.(6121-6123)tCc>tGc	p.S2041C	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2041	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.S2041C(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)			AACCTTCCCTCCGTGCCCCTG	0.582																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(6121-6123)TCC>TGC		mediator of RNA polymerase II transcription,							81.0	74.0	76.0					3																	151131013		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151131013C>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.6122C>G	3.37:g.151131013C>G	ENSP00000417235:p.Ser2041Cys					MED12L_uc011bnz.1_Intron	p.S2041C	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		40	6160	+			2041			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.6122C>G	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.286552	0.80803	.	.	ENSG00000144893	ENST00000474524	T	0.58797	0.31	5.33	5.33	0.75918	.	0.278007	0.36167	N	0.002755	T	0.58652	0.2137	N	0.08118	0	0.80722	D	1	D	0.69078	0.997	D	0.70935	0.971	T	0.68074	-0.5505	10	0.66056	D	0.02	-11.9528	16.8214	0.85747	0.0:1.0:0.0:0.0	.	2041	Q86YW9	MD12L_HUMAN	C	2041	ENSP00000417235:S2041C	ENSP00000417235:S2041C	S	+	2	0	MED12L	152613703	0.991000	0.36638	0.947000	0.38551	0.996000	0.88848	3.658000	0.54482	2.495000	0.84180	0.655000	0.94253	TCC		PASS	0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	105	6	105	---	---	---	---
MME	4311	broad.mit.edu	37	3	154884713	154884713	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:154884713G>T	ENST00000460393.1	+	18	1803	c.1683G>T	c.(1681-1683)caG>caT	p.Q561H	MME_ENST00000360490.2_Missense_Mutation_p.Q561H|MME_ENST00000462745.1_Missense_Mutation_p.Q561H|MME_ENST00000492661.1_Missense_Mutation_p.Q561H|MME_ENST00000493237.1_Missense_Mutation_p.Q561H|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	561					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.Q561H(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	GCATTCTGCAGCCCCCCTTCT	0.448																																						uc010hvr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1681-1683)CAG>CAT		membrane metallo-endopeptidase	Candoxatril(DB00616)						135.0	135.0	135.0					3																	154884713		2203	4300	6503	SO:0001583	missense	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154884713G>T		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1683G>T	3.37:g.154884713G>T	ENSP00000418525:p.Gln561His					MME_uc003fab.1_Missense_Mutation_p.Q561H|MME_uc003fac.1_Missense_Mutation_p.Q561H|MME_uc003fad.1_Missense_Mutation_p.Q561H|MME_uc003fae.1_Missense_Mutation_p.Q561H	p.Q561H	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		18	1894	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	561			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	ENST00000460393.1	37	c.1683G>T	CCDS3172.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984331	0.74474	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.86030	-2.06;-2.06;-2.06;-2.06;-2.06	5.9	5.03	0.67393	Peptidase M13, neprilysin, C-terminal (2);Metallopeptidase, catalytic domain (1);	0.140723	0.53938	D	0.000044	D	0.92974	0.7764	M	0.93375	3.41	0.58432	D	0.999999	D	0.71674	0.998	D	0.66196	0.942	D	0.93558	0.6892	10	0.87932	D	0	-15.3543	9.3352	0.38045	0.2122:0.0:0.7878:0.0	.	561	P08473	NEP_HUMAN	H	561	ENSP00000420389:Q561H;ENSP00000418525:Q561H;ENSP00000419653:Q561H;ENSP00000417079:Q561H;ENSP00000353679:Q561H	ENSP00000353679:Q561H	Q	+	3	2	MME	156367407	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.873000	0.48475	1.501000	0.48654	0.650000	0.86243	CAG		PASS	0.448	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		11	93	11	93	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169815104	169815104	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:169815104C>A	ENST00000494943.1	-	15	2934	c.2866G>T	c.(2866-2868)Gaa>Taa	p.E956*	PHC3_ENST00000495893.2_Nonsense_Mutation_p.E968*			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	956	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.E937*(1)|p.E968*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGATGGTCTTCTTTCAGCAAG	0.468																																						uc010hws.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2866-2868)GAA>TAA		polyhomeotic like 3							212.0	209.0	210.0					3																	169815104		2067	4249	6316	SO:0001587	stop_gained	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169815104C>A		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.2866G>T	3.37:g.169815104C>A	ENSP00000420271:p.Glu956*					PHC3_uc003fgl.2_Nonsense_Mutation_p.E968*	p.E956*	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		15	2930	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		956			SAM.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Nonsense_Mutation	SNP	ENST00000494943.1	37	c.2866G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	40|40	8.266884|8.266884	0.98735|0.98735	.|.	.|.	ENSG00000173889|ENSG00000173889	ENST00000494943;ENST00000495893|ENST00000484068	.|T	.|0.50813	.|0.73	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	0.000000|.	0.64402|.	D|.	0.000001|.	.|T	.|0.69691	.|0.3139	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72603	.|-0.4243	.|6	0.87932|0.87932	D|D	0|0	-11.4261|-11.4261	19.7918|19.7918	0.96461|0.96461	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	956;968|133	.|ENSP00000418835:K133N	ENSP00000420271:E956X|ENSP00000418835:K133N	E|K	-|-	1|3	0|2	PHC3|PHC3	171297798|171297798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	7.440000|7.440000	0.80464|0.80464	2.677000|2.677000	0.91161|0.91161	0.591000|0.591000	0.81541|0.81541	GAA|AAG		PASS	0.468	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		8	325	8	325	---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170198250	170198250	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:170198250C>T	ENST00000231706.5	-	7	2136	c.1821G>A	c.(1819-1821)ctG>ctA	p.L607L	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	607					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.L607L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGGTGCTGATCAGCAGCACCA	0.542																																						uc003fgz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1819-1821)CTG>CTA		solute carrier family 7 (cationic amino acid							88.0	86.0	87.0					3																	170198250		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198250C>T	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1821G>A	3.37:g.170198250C>T						CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.L607L	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2137	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		607			Helical; (Potential).		B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.1821G>A	CCDS33892.1																																																																																				PASS	0.542	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		7	139	7	139	---	---	---	---
YEATS2	55689	broad.mit.edu	37	3	183439723	183439723	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:183439723C>G	ENST00000305135.5	+	5	531	c.336C>G	c.(334-336)atC>atG	p.I112M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	112					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)	p.I112M(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATCCTGCTATCAAGAAATTTT	0.358																																						uc003fly.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(334-336)ATC>ATG		YEATS domain containing 2							137.0	130.0	132.0					3																	183439723		1894	4128	6022	SO:0001583	missense	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183439723C>G	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.336C>G	3.37:g.183439723C>G	ENSP00000306983:p.Ile112Met						p.I112M	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		5	531	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		112					A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	ENST00000305135.5	37	c.336C>G	CCDS43175.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241621	0.58995	.	.	ENSG00000163872	ENST00000421660;ENST00000305135	T	0.52057	0.68	5.58	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.62171	0.2406	M	0.73217	2.22	0.51767	D	0.99993	D	0.71674	0.998	P	0.62382	0.901	T	0.64166	-0.6471	10	0.87932	D	0	-12.5122	10.5176	0.44898	0.0:0.85:0.0:0.15	.	112	Q9ULM3	YETS2_HUMAN	M	112	ENSP00000306983:I112M	ENSP00000306983:I112M	I	+	3	3	YEATS2	184922417	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.288000	0.43514	0.727000	0.32360	0.591000	0.81541	ATC		PASS	0.358	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		8	268	8	268	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183905220	183905220	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:183905220G>A	ENST00000429586.2	+	4	522	c.337G>A	c.(337-339)Gaa>Aaa	p.E113K	ABCF3_ENST00000292808.5_Missense_Mutation_p.E107K|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	113					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E113K(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTAAAGAGGGAACAGTCCTC	0.493																																						uc003fmz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(337-339)GAA>AAA		ATP-binding cassette, sub-family F (GCN20),							84.0	79.0	81.0					3																	183905220		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183905220G>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.337G>A	3.37:g.183905220G>A	ENSP00000411471:p.Glu113Lys					ABCF3_uc003fna.2_Missense_Mutation_p.E107K|ABCF3_uc003fnb.2_5'Flank	p.E113K	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	470	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		113					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.337G>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	G	8.236	0.805733	0.16467	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.91124	-2.79;-2.79	4.12	4.12	0.48240	.	0.457162	0.23494	N	0.047572	T	0.77811	0.4186	N	0.08118	0	0.37059	D	0.897992	B;B	0.16603	0.007;0.018	B;B	0.20577	0.03;0.021	T	0.72577	-0.4251	10	0.02654	T	1	-11.5847	13.2215	0.59890	0.0:0.0:1.0:0.0	.	107;113	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	K	113;107	ENSP00000411471:E113K;ENSP00000292808:E107K	ENSP00000292808:E107K	E	+	1	0	ABCF3	185387914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.768000	0.62293	2.134000	0.65973	0.462000	0.41574	GAA		PASS	0.493	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		51	109	51	109	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183905691	183905691	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:183905691G>C	ENST00000429586.2	+	6	674	c.489G>C	c.(487-489)aaG>aaC	p.K163N	ABCF3_ENST00000292808.5_Missense_Mutation_p.K157N|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	163					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.K163N(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGCAGAAAGGAGAGTCGGT	0.488																																						uc003fmz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(487-489)AAG>AAC		ATP-binding cassette, sub-family F (GCN20),							113.0	118.0	116.0					3																	183905691		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183905691G>C	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.489G>C	3.37:g.183905691G>C	ENSP00000411471:p.Lys163Asn					ABCF3_uc003fna.2_Missense_Mutation_p.K157N|ABCF3_uc003fnb.2_5'Flank	p.K163N	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		6	622	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		163					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.489G>C	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730576	0.48939	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92048	-2.94;-2.96	4.57	1.68	0.24146	.	0.000000	0.85682	D	0.000000	D	0.88570	0.6472	N	0.17312	0.475	0.58432	D	0.999999	D;D	0.65815	0.995;0.972	D;P	0.63113	0.911;0.704	T	0.81887	-0.0726	10	0.12766	T	0.61	-15.7938	8.5362	0.33364	0.2629:0.0:0.7371:0.0	.	157;163	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	N	163;157	ENSP00000411471:K163N;ENSP00000292808:K157N	ENSP00000292808:K157N	K	+	3	2	ABCF3	185388385	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.333000	0.52090	0.034000	0.15491	0.462000	0.41574	AAG		PASS	0.488	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		86	135	86	135	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183906897	183906897	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:183906897G>A	ENST00000429586.2	+	10	1184	c.999G>A	c.(997-999)agG>agA	p.R333R	ABCF3_ENST00000292808.5_Silent_p.R327R|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	333	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.R333R(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGCTGGAGGATGAGGCTGG	0.557																																						uc003fmz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(1)	4						c.(997-999)AGG>AGA		ATP-binding cassette, sub-family F (GCN20),							55.0	57.0	57.0					3																	183906897		2203	4300	6503	SO:0001819	synonymous_variant	55324						ATP binding|ATPase activity	g.chr3:183906897G>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.999G>A	3.37:g.183906897G>A						ABCF3_uc003fna.2_Silent_p.R327R|ABCF3_uc003fnb.2_Silent_p.R14R	p.R333R	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1132	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		333			ABC transporter 1.		A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Silent	SNP	ENST00000429586.2	37	c.999G>A	CCDS3254.1																																																																																				PASS	0.557	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		32	79	32	79	---	---	---	---
ABCF3	55324	broad.mit.edu	37	3	183907652	183907652	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:183907652G>A	ENST00000429586.2	+	14	1509	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	ABCF3_ENST00000292808.5_Missense_Mutation_p.D436N|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	442					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D442N(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTTTTCATTGACCGGTTTCG	0.572																																						uc003fmz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1324-1326)GAC>AAC		ATP-binding cassette, sub-family F (GCN20),							133.0	111.0	118.0					3																	183907652		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183907652G>A	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.1324G>A	3.37:g.183907652G>A	ENSP00000411471:p.Asp442Asn					ABCF3_uc003fna.2_Missense_Mutation_p.D436N|ABCF3_uc003fnb.2_Missense_Mutation_p.D123N	p.D442N	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		14	1457	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		442					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.1324G>A	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644728	0.87859	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92647	-3.08;-3.08	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.94981	0.8376	M	0.70787	2.145	0.80722	D	1	D;P	0.58620	0.983;0.91	P;P	0.61874	0.895;0.737	D	0.95059	0.8194	10	0.51188	T	0.08	-23.3665	16.5919	0.84767	0.0:0.0:1.0:0.0	.	436;442	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	N	442;436	ENSP00000411471:D442N;ENSP00000292808:D436N	ENSP00000292808:D436N	D	+	1	0	ABCF3	185390346	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.152000	0.67230	0.563000	0.77884	GAC		PASS	0.572	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		60	124	60	124	---	---	---	---
OPA1	4976	broad.mit.edu	37	3	193361385	193361385	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:193361385G>C	ENST00000392438.3	+	13	1515	c.1281G>C	c.(1279-1281)caG>caC	p.Q427H	OPA1_ENST00000361510.2_Missense_Mutation_p.Q482H|OPA1_ENST00000361150.2_Missense_Mutation_p.Q428H|OPA1_ENST00000361828.2_Missense_Mutation_p.Q445H|OPA1_ENST00000361715.2_Missense_Mutation_p.Q446H|OPA1_ENST00000361908.3_Missense_Mutation_p.Q464H	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	427	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.Q482H(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CTTACATGCAGAATCCTAATG	0.323																																						uc003ftm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1279-1281)CAG>CAC		optic atrophy 1 isoform 1							82.0	80.0	81.0					3																	193361385		2203	4300	6503	SO:0001583	missense	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193361385G>C	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1281G>C	3.37:g.193361385G>C	ENSP00000376233:p.Gln427His					OPA1_uc003ftg.2_Missense_Mutation_p.Q482H|OPA1_uc003fth.2_Missense_Mutation_p.Q446H|OPA1_uc003fti.2_Missense_Mutation_p.Q464H|OPA1_uc003ftj.2_Missense_Mutation_p.Q445H|OPA1_uc003ftk.2_Missense_Mutation_p.Q428H|OPA1_uc003ftl.2_Missense_Mutation_p.Q409H|OPA1_uc003ftn.2_Missense_Mutation_p.Q391H	p.Q427H	NM_015560	NP_056375	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	13	1515	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		427			Mitochondrial intermembrane (By similarity).		D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	c.1281G>C	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567285	0.45694	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.95588	-3.75;-3.75;-3.75;-3.75;-3.75;-3.75	5.79	4.91	0.64330	Dynamin, GTPase domain (2);	0.051663	0.85682	D	0.000000	D	0.94827	0.8329	L	0.48935	1.535	0.58432	D	0.99999	B;P;B;B;D;B;D;B	0.56287	0.005;0.954;0.009;0.009;0.964;0.016;0.975;0.061	B;P;B;B;P;B;P;B	0.55260	0.026;0.69;0.026;0.026;0.772;0.026;0.69;0.063	D	0.93615	0.6942	10	0.51188	T	0.08	-13.5198	9.6451	0.39863	0.1525:0.0:0.8475:0.0	.	391;427;409;428;445;464;446;482	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	H	464;427;482;446;445;428	ENSP00000354681:Q464H;ENSP00000376233:Q427H;ENSP00000355324:Q482H;ENSP00000355311:Q446H;ENSP00000354429:Q445H;ENSP00000354781:Q428H	ENSP00000354781:Q428H	Q	+	3	2	OPA1	194844079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.213000	0.51153	2.735000	0.93741	0.655000	0.94253	CAG		PASS	0.323	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		3	62	3	62	---	---	---	---
MUC20	200958	broad.mit.edu	37	3	195453355	195453355	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:195453355G>C	ENST00000447234.2	+	2	2007	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	MUC20_ENST00000445522.2_Missense_Mutation_p.K592N|MUC20_ENST00000436408.1_Missense_Mutation_p.K627N|MUC20_ENST00000320736.6_Missense_Mutation_p.K456N	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	627	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)		p.K627N(1)|p.K438N(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCTTAGCCAAGATCACAACCT	0.622																																						uc010hzo.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1366-1368)AAG>AAC		mucin 20 isoform L							98.0	112.0	107.0					3																	195453355		2127	4241	6368	SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453355G>C	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1881G>C	3.37:g.195453355G>C	ENSP00000414350:p.Lys627Asn					MUC20_uc010hzp.2_Missense_Mutation_p.K421N|MUC20_uc011bte.1_RNA	p.K456N	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1494	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	627			Involved in oligomerization.|Thr-rich.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.1368G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.160806|3.160806	0.57368|0.57368	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000423938|ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522	.|T;T;T;T	.|0.24538	.|2.32;2.47;2.49;1.85	4.76|4.76	4.76|4.76	0.60689|0.60689	.|.	.|0.286793	.|0.25316	.|N	.|0.031559	T|T	0.37919|0.37919	0.1021|0.1021	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999997|0.999997	.|D	.|0.71674	.|0.998	.|D	.|0.69654	.|0.965	T|T	0.10800|0.10800	-1.0614|-1.0614	5|10	.|0.62326	.|D	.|0.03	-4.4589|-4.4589	13.4559|13.4559	0.61199|0.61199	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|456	.|E9PH32	.|.	H|N	39|438;627;456;627;592	.|ENSP00000414350:K627N;ENSP00000325431:K456N;ENSP00000396774:K627N;ENSP00000405629:K592N	.|ENSP00000325431:K456N	D|K	+|+	1|3	0|2	MUC20|MUC20	196939026|196939026	0.850000|0.850000	0.29656|0.29656	0.060000|0.060000	0.19600|0.19600	0.026000|0.026000	0.11368|0.11368	3.685000|3.685000	0.54678|0.54678	2.629000|2.629000	0.89072|0.89072	0.609000|0.609000	0.83330|0.83330	GAT|AAG		PASS	0.622	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		6	148	6	148	---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196612242	196612242	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:196612242C>G	ENST00000323460.5	+	2	439	c.190C>G	c.(190-192)Ctt>Gtt	p.L64V	SENP5_ENST00000419026.1_Intron|SENP5_ENST00000445299.2_Missense_Mutation_p.L64V	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	64					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L64V(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAAGAAAGCTCTTCAAATCCA	0.403																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3																			1	Substitution - Missense(1)		lung(1)	breast(2)|lung(1)	3						c.(190-192)CTT>GTT		SUMO1/sentrin specific peptidase 5							86.0	84.0	85.0					3																	196612242		2203	4300	6503	SO:0001583	missense	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196612242C>G	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.190C>G	3.37:g.196612242C>G	ENSP00000327197:p.Leu64Val					SENP5_uc011bty.1_Missense_Mutation_p.L64V	p.L64V	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	439	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		64					B4DY82|Q96SA5	Missense_Mutation	SNP	ENST00000323460.5	37	c.190C>G	CCDS3322.1	.	.	.	.	.	.	.	.	.	.	C	2.096	-0.407237	0.04832	.	.	ENSG00000119231	ENST00000323460;ENST00000445299	T;T	0.37235	1.61;1.21	5.18	3.37	0.38596	.	0.344395	0.24422	N	0.038671	T	0.25754	0.0627	L	0.29908	0.895	0.21473	N	0.999676	B;P	0.45348	0.041;0.856	B;B	0.40038	0.025;0.317	T	0.09552	-1.0669	10	0.72032	D	0.01	-0.5347	9.5013	0.39019	0.0:0.7748:0.1444:0.0808	.	64;64	B4DY82;Q96HI0	.;SENP5_HUMAN	V	64	ENSP00000327197:L64V;ENSP00000390231:L64V	ENSP00000327197:L64V	L	+	1	0	SENP5	198096639	0.045000	0.20229	0.003000	0.11579	0.002000	0.02628	1.918000	0.40006	0.821000	0.34540	-0.176000	0.13171	CTT		PASS	0.403	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		3	68	3	68	---	---	---	---
LMLN	89782	broad.mit.edu	37	3	197712674	197712674	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr3:197712674C>T	ENST00000330198.4	+	8	864	c.842C>T	c.(841-843)tCt>tTt	p.S281F	LMLN_ENST00000482695.1_Missense_Mutation_p.S229F|LMLN_ENST00000332636.5_Missense_Mutation_p.S229F|LMLN_ENST00000420910.2_Missense_Mutation_p.S281F	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	281					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S281F(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CAGGGTTTCTCTGCTGGGCTG	0.398																																						uc011buo.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(841-843)TCT>TTT		leishmanolysin-like isoform 2							113.0	105.0	107.0					3																	197712674		2203	4300	6503	SO:0001583	missense	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197712674C>T	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.842C>T	3.37:g.197712674C>T	ENSP00000328829:p.Ser281Phe					LMLN_uc003fyt.2_Missense_Mutation_p.S229F|LMLN_uc010iar.2_Missense_Mutation_p.S281F|LMLN_uc010ias.2_Missense_Mutation_p.S229F|LMLN_uc003fyu.2_Missense_Mutation_p.S41F	p.S281F	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	8	864	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	281					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	c.842C>T	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528669	0.64860	.	.	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000420910;ENST00000332636	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.24	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	M	0.91406	3.205	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.998;0.999;0.997	T	0.81621	-0.0850	10	0.87932	D	0	-19.5284	12.0571	0.53542	0.0:1.0:0.0:0.0	.	281;229;281;273;229	Q96KR4;F8WCE5;F8WB28;B4DR62;Q96KR4-2	LMLN_HUMAN;.;.;.;.	F	229;281;281;229	ENSP00000418324:S229F;ENSP00000328829:S281F;ENSP00000410926:S281F;ENSP00000328611:S229F	ENSP00000328829:S281F	S	+	2	0	LMLN	199197071	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	6.933000	0.75874	2.201000	0.70794	0.298000	0.19748	TCT		PASS	0.398	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	NM_033029		5	141	5	141	---	---	---	---
FAM193A	8603	broad.mit.edu	37	4	2701692	2701692	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:2701692G>C	ENST00000324666.5	+	17	3271	c.2920G>C	c.(2920-2922)Gag>Cag	p.E974Q	FAM193A_ENST00000545951.1_Missense_Mutation_p.E974Q|FAM193A_ENST00000505311.1_Missense_Mutation_p.E974Q|FAM193A_ENST00000382839.3_Missense_Mutation_p.E974Q|FAM193A_ENST00000502458.1_Missense_Mutation_p.E996Q	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	974								p.E974Q(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						TGGCTCACTAGAGCAAACTGA	0.517																																						uc010icl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2920-2922)GAG>CAG		hypothetical protein LOC8603							94.0	94.0	94.0					4																	2701692		2203	4300	6503	SO:0001583	missense	8603							g.chr4:2701692G>C	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2920G>C	4.37:g.2701692G>C	ENSP00000324587:p.Glu974Gln					FAM193A_uc010ick.2_Missense_Mutation_p.E1174Q|FAM193A_uc003gfd.2_Missense_Mutation_p.E974Q|FAM193A_uc011bvm.1_Missense_Mutation_p.E996Q|FAM193A_uc011bvn.1_Missense_Mutation_p.E974Q|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.E828Q	p.E974Q	NM_003704	NP_003695	P78312	F193A_HUMAN			17	3271	+			974					B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	37	c.2920G>C	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770094	0.69992	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.32023	1.49;1.91;1.48;1.47;1.48	5.16	5.16	0.70880	.	0.429595	0.27513	N	0.019032	T	0.50240	0.1604	L	0.50333	1.59	0.48040	D	0.999571	D;D;D;D;D	0.71674	0.989;0.998;0.996;0.996;0.979	P;D;P;D;P	0.75484	0.776;0.957;0.889;0.986;0.776	T	0.31280	-0.9949	10	0.35671	T	0.21	-24.8755	17.831	0.88683	0.0:0.0:1.0:0.0	.	974;996;974;996;974	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	Q	974;974;974;996;828	ENSP00000372290:E974Q;ENSP00000324587:E974Q;ENSP00000443617:E974Q;ENSP00000427505:E996Q;ENSP00000427260:E828Q	ENSP00000324587:E974Q	E	+	1	0	FAM193A	2671490	1.000000	0.71417	0.919000	0.36401	0.855000	0.48748	4.891000	0.63185	2.699000	0.92147	0.650000	0.86243	GAG		PASS	0.517	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704		15	108	15	108	---	---	---	---
HS3ST1	9957	broad.mit.edu	37	4	11401378	11401378	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:11401378C>T	ENST00000002596.5	-	2	1426	c.252G>A	c.(250-252)gaG>gaA	p.E84E		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	84					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)	p.E84E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GGACCTCGTTCTCCGCGGCCG	0.657																																						uc003gmq.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(250-252)GAG>GAA		heparan sulfate D-glucosaminyl							70.0	59.0	63.0					4																	11401378		2203	4300	6503	SO:0001819	synonymous_variant	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401378C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.252G>A	4.37:g.11401378C>T							p.E84E	NM_005114	NP_005105	O14792	HS3S1_HUMAN			2	575	-			84					B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	37	c.252G>A	CCDS3408.1																																																																																				PASS	0.657	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		11	69	11	69	---	---	---	---
C1QTNF7	114905	broad.mit.edu	37	4	15444362	15444362	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:15444362G>C	ENST00000444304.2	+	3	1135	c.809G>C	c.(808-810)gGg>gCg	p.G270A	C1QTNF7_ENST00000295297.4_Missense_Mutation_p.G277A|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.G270A			Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	270	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)		p.G270A(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						TTATTCTCCGGGTTTCTCTTA	0.443																																						uc011bxb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)GGG>GCG		C1q and tumor necrosis factor related protein 7							81.0	86.0	84.0					4																	15444362		2203	4300	6503	SO:0001583	missense	114905					collagen		g.chr4:15444362G>C	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000444304.2:c.809G>C	4.37:g.15444362G>C	ENSP00000388914:p.Gly270Ala					C1QTNF7_uc003gno.2_Missense_Mutation_p.G277A|C1QTNF7_uc003gnp.2_Missense_Mutation_p.G270A	p.G270A	NM_001135171	NP_001128643	Q9BXJ2	C1QT7_HUMAN			3	1036	+			270			C1q.		B2RBT3|J3KPW3	Missense_Mutation	SNP	ENST00000444304.2	37	c.809G>C	CCDS3414.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197497	0.79015	.	.	ENSG00000163145	ENST00000295297;ENST00000429690;ENST00000444304	D;D;D	0.96830	-4.14;-4.14;-4.14	5.75	5.75	0.90469	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.98541	0.9513	M	0.89968	3.075	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98816	1.0745	9	.	.	.	.	19.9598	0.97242	0.0:0.0:1.0:0.0	.	270	Q9BXJ2	C1QT7_HUMAN	A	277;270;270	ENSP00000295297:G277A;ENSP00000410722:G270A;ENSP00000388914:G270A	.	G	+	2	0	C1QTNF7	15053460	1.000000	0.71417	0.964000	0.40570	0.717000	0.41224	9.808000	0.99193	2.716000	0.92895	0.655000	0.94253	GGG		PASS	0.443	C1QTNF7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000250891.2			5	118	5	118	---	---	---	---
LDB2	9079	broad.mit.edu	37	4	16510277	16510277	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:16510277T>C	ENST00000304523.5	-	7	1095	c.772A>G	c.(772-774)Aga>Gga	p.R258G	RP11-446J8.1_ENST00000512370.1_RNA|LDB2_ENST00000515064.1_Missense_Mutation_p.R258G|LDB2_ENST00000503178.2_Missense_Mutation_p.R134G|LDB2_ENST00000502640.1_Missense_Mutation_p.R258G|LDB2_ENST00000441778.2_Missense_Mutation_p.R258G	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	258					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)	p.R258G(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTCCTTTTTCTCCGTTTGGTT	0.483																																						uc003goz.2																			2	Substitution - Missense(2)		lung(2)		0						c.(772-774)AGA>GGA		LIM domain binding 2 isoform a							253.0	206.0	222.0					4																	16510277		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16510277T>C	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.772A>G	4.37:g.16510277T>C	ENSP00000306772:p.Arg258Gly					LDB2_uc003gpa.2_Missense_Mutation_p.R258G|LDB2_uc003gpb.2_Missense_Mutation_p.R258G|LDB2_uc011bxh.1_Missense_Mutation_p.R230G|LDB2_uc010iee.2_Missense_Mutation_p.R258G|LDB2_uc003goy.2_Missense_Mutation_p.R133G|LDB2_uc011bxi.1_Missense_Mutation_p.R134G	p.R258G	NM_001290	NP_001281	O43679	LDB2_HUMAN			7	1088	-			258					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.772A>G	CCDS3420.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.027261	0.75390	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000503178	T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000001	T	0.53834	0.1821	M	0.83118	2.625	0.80722	D	1	D;D;D;D;D;D;D	0.71674	0.995;0.967;0.993;0.998;0.998;0.991;0.997	D;P;D;D;D;D;D	0.81914	0.972;0.879;0.977;0.957;0.995;0.989;0.995	T	0.54833	-0.8234	10	0.35671	T	0.21	-17.1178	15.3779	0.74625	0.0:0.0:0.0:1.0	.	134;224;258;258;258;258;234	B7Z2D3;B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679;O43679-3	.;.;.;.;.;LDB2_HUMAN;.	G	258;258;258;258;134	ENSP00000422552:R258G;ENSP00000392089:R258G;ENSP00000306772:R258G;ENSP00000423963:R258G;ENSP00000440940:R134G	ENSP00000306772:R258G	R	-	1	2	LDB2	16119375	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.251000	0.51453	2.225000	0.72522	0.533000	0.62120	AGA		PASS	0.483	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2			12	93	12	93	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20493390	20493390	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:20493390A>G	ENST00000504154.1	+	9	1034	c.782A>G	c.(781-783)cAg>cGg	p.Q261R	SLIT2_ENST00000503837.1_Missense_Mutation_p.Q265R|SLIT2_ENST00000503823.1_Missense_Mutation_p.Q261R|SLIT2_ENST00000273739.5_Missense_Mutation_p.Q265R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	261					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.Q261R(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						TTAGGTCACCAGTCATTTATG	0.393																																						uc003gpr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(781-783)CAG>CGG		slit homolog 2 precursor							127.0	129.0	128.0					4																	20493390		2203	4300	6503	SO:0001583	missense	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.chr4:20493390A>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.782A>G	4.37:g.20493390A>G	ENSP00000422591:p.Gln261Arg					SLIT2_uc003gps.1_Missense_Mutation_p.Q261R	p.Q261R	NM_004787	NP_004778	O94813	SLIT2_HUMAN			9	986	+			261					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.782A>G	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	A	12.09	1.832798	0.32421	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.80738	-1.39;-1.41;-1.32;-1.37	5.63	5.63	0.86233	.	0.376195	0.33772	N	0.004573	T	0.65606	0.2707	N	0.11313	0.125	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.61033	-0.7144	10	0.18710	T	0.47	.	16.1485	0.81594	1.0:0.0:0.0:0.0	.	261;261	O94813-3;O94813	.;SLIT2_HUMAN	R	261;261;265;265;265	ENSP00000427548:Q261R;ENSP00000422591:Q261R;ENSP00000273739:Q265R;ENSP00000422261:Q265R	ENSP00000273739:Q265R	Q	+	2	0	SLIT2	20102488	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.923000	0.92808	2.281000	0.76405	0.533000	0.62120	CAG		PASS	0.393	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			4	130	4	130	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30725257	30725257	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:30725257A>G	ENST00000361762.2	+	1	3221	c.2213A>G	c.(2212-2214)aAt>aGt	p.N738S	PCDH7_ENST00000543491.1_Missense_Mutation_p.N738S	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	738	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N691S(1)|p.N738S(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAAATGACAATGCTCCCACA	0.473																																						uc003gsk.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(2212-2214)AAT>AGT		protocadherin 7 isoform a precursor							102.0	96.0	98.0					4																	30725257		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30725257A>G	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.2213A>G	4.37:g.30725257A>G	ENSP00000355243:p.Asn738Ser					PCDH7_uc011bxw.1_Missense_Mutation_p.N691S|PCDH7_uc011bxx.1_Missense_Mutation_p.N738S	p.N738S	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	3221	+			738			Extracellular (Potential).|Cadherin 6.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.2213A>G	CCDS33971.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430510	0.62844	.	.	ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135	T;T	0.52754	0.65;0.65	5.04	5.04	0.67666	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.72771	0.3502	H	0.95043	3.615	0.54753	D	0.999987	D;D;P	0.54397	0.966;0.966;0.942	P;P;P	0.55161	0.77;0.77;0.463	T	0.82587	-0.0383	9	0.87932	D	0	.	14.9529	0.71088	1.0:0.0:0.0:0.0	.	738;691;738	F5GWJ1;O60245-3;O60245	.;.;PCDH7_HUMAN	S	738;738;691	ENSP00000355243:N738S;ENSP00000441802:N738S	ENSP00000330302:N691S	N	+	2	0	PCDH7	30334355	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	2.111000	0.64477	0.533000	0.62120	AAT		PASS	0.473	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		6	104	6	104	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895496	42895496	+	Missense_Mutation	SNP	T	T	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:42895496T>G	ENST00000399770.2	+	1	213	c.213T>G	c.(211-213)gaT>gaG	p.D71E	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	71					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.D71E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						CAGAAGGTGATGAGAATGAGA	0.468																																						uc003gwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(211-213)GAT>GAG		glutaredoxin, cysteine rich 1							160.0	168.0	165.0					4																	42895496		2054	4206	6260	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895496T>G		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.213T>G	4.37:g.42895496T>G	ENSP00000382670:p.Asp71Glu						p.D71E	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	213	+			71						Missense_Mutation	SNP	ENST00000399770.2	37	c.213T>G	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	T	9.518	1.107483	0.20714	.	.	ENSG00000215203	ENST00000399770	T	0.35973	1.28	5.34	-10.1	0.00402	.	0.072732	0.53938	U	0.000059	T	0.17789	0.0427	L	0.27053	0.805	0.34052	D	0.6562	B	0.06786	0.001	B	0.04013	0.001	T	0.05971	-1.0853	10	0.30854	T	0.27	-5.0084	12.9603	0.58453	0.0:0.5892:0.1023:0.3085	.	71	A8MXD5	GRCR1_HUMAN	E	71	ENSP00000382670:D71E	ENSP00000382670:D71E	D	+	3	2	GRXCR1	42590253	0.002000	0.14202	0.002000	0.10522	0.026000	0.11368	-1.513000	0.02256	-2.105000	0.00842	-0.297000	0.09499	GAT		PASS	0.468	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		18	182	18	182	---	---	---	---
AFM	173	broad.mit.edu	37	4	74364940	74364940	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:74364940G>C	ENST00000226355.3	+	11	1492	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	467	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)	p.E467*(2)|p.E467K(1)|p.E467Q(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GCTAAGTGAAGAGTTTGCCTG	0.408																																						uc003hhb.2																			4	Substitution - Nonsense(2)|Substitution - Missense(2)		lung(3)|skin(1)	ovary(2)|central_nervous_system(1)	3						c.(1399-1401)GAG>CAG		afamin precursor							171.0	148.0	156.0					4																	74364940		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74364940G>C	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.1399G>C	4.37:g.74364940G>C	ENSP00000226355:p.Glu467Gln						p.E467Q	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		11	1430	+	Breast(15;0.00102)		467			Albumin 3.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.1399G>C	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	G	5.227	0.227290	0.09916	.	.	ENSG00000079557	ENST00000226355	T	0.60040	0.22	5.34	4.48	0.54585	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.334229	0.30410	N	0.009693	T	0.57799	0.2078	M	0.77103	2.36	0.28297	N	0.923296	B	0.34329	0.449	B	0.34873	0.191	T	0.55636	-0.8110	10	0.33940	T	0.23	.	11.9845	0.53140	0.0:0.1743:0.8257:0.0	.	467	P43652	AFAM_HUMAN	Q	467	ENSP00000226355:E467Q	ENSP00000226355:E467Q	E	+	1	0	AFM	74583804	0.975000	0.34042	0.998000	0.56505	0.173000	0.22820	1.357000	0.34090	1.219000	0.43474	0.655000	0.94253	GAG		PASS	0.408	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			3	68	3	68	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79308543	79308543	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:79308543G>C	ENST00000325942.6	+	29	4103	c.3663G>C	c.(3661-3663)ctG>ctC	p.L1221L	FRAS1_ENST00000264895.6_Silent_p.L1221L	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1221					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.L1221L(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCTATGTGCTGAGAAATGAAG	0.473																																						uc003hlb.2																			3	Substitution - coding silent(3)		lung(3)	large_intestine(5)	5						c.(3661-3663)CTG>CTC		Fraser syndrome 1							72.0	70.0	70.0					4																	79308543		1940	4136	6076	SO:0001819	synonymous_variant	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79308543G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3663G>C	4.37:g.79308543G>C						FRAS1_uc003hkw.2_Silent_p.L1221L	p.L1221L	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			29	4103	+			1220			CSPG 2.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Silent	SNP	ENST00000325942.6	37	c.3663G>C	CCDS54772.1																																																																																				PASS	0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			3	85	3	85	---	---	---	---
GK2	2712	broad.mit.edu	37	4	80328291	80328291	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:80328291G>A	ENST00000358842.3	-	1	1081	c.1064C>T	c.(1063-1065)tCt>tTt	p.S355F		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)	p.S355F(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						ACAGCCATAAGAAGTTCCTAC	0.438																																						uc003hlu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1063-1065)TCT>TTT		glycerol kinase 2							113.0	107.0	109.0					4																	80328291		2203	4300	6503	SO:0001583	missense	2712				glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	g.chr4:80328291G>A	BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.1064C>T	4.37:g.80328291G>A	ENSP00000351706:p.Ser355Phe						p.S355F	NM_033214	NP_149991	Q14410	GLPK2_HUMAN			1	1082	-			355					Q7Z4Q4	Missense_Mutation	SNP	ENST00000358842.3	37	c.1064C>T	CCDS3585.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.137726	0.56936	.	.	ENSG00000196475	ENST00000358842	D	0.91295	-2.82	4.04	4.04	0.47022	Carbohydrate kinase, FGGY, C-terminal (1);	0.056782	0.64402	D	0.000001	D	0.96281	0.8787	H	0.94734	3.575	0.80722	D	1	D	0.61080	0.989	D	0.71184	0.972	D	0.96988	0.9720	10	0.87932	D	0	-3.5932	14.504	0.67741	0.0:0.0:1.0:0.0	.	355	Q14410	GLPK2_HUMAN	F	355	ENSP00000351706:S355F	ENSP00000351706:S355F	S	-	2	0	GK2	80547315	1.000000	0.71417	0.997000	0.53966	0.684000	0.39900	8.743000	0.91592	2.558000	0.86282	0.585000	0.79938	TCT		PASS	0.438	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252517.2	NM_033214		5	95	5	95	---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85687027	85687027	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:85687027G>A	ENST00000295888.4	-	32	5531	c.5124C>T	c.(5122-5124)ctC>ctT	p.L1708L	WDFY3_ENST00000322366.6_Silent_p.L1708L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1708					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L1708L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTCCACCACTGAGTCCTTCTT	0.403																																						uc003hpd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(5122-5124)CTC>CTT		WD repeat and FYVE domain containing 3 isoform							134.0	127.0	129.0					4																	85687027		2203	4300	6503	SO:0001819	synonymous_variant	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85687027G>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5124C>T	4.37:g.85687027G>A							p.L1708L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	32	5532	-		Hepatocellular(203;0.114)	1708					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	c.5124C>T	CCDS3609.1																																																																																				PASS	0.403	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		4	94	4	94	---	---	---	---
PTPN13	5783	broad.mit.edu	37	4	87655973	87655973	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:87655973C>A	ENST00000411767.2	+	14	2159	c.2096C>A	c.(2095-2097)tCc>tAc	p.S699Y	PTPN13_ENST00000316707.6_Missense_Mutation_p.S699Y|PTPN13_ENST00000511467.1_Missense_Mutation_p.S699Y|PTPN13_ENST00000427191.2_Missense_Mutation_p.S699Y|PTPN13_ENST00000436978.1_Missense_Mutation_p.S699Y			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	699	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.S699Y(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GATGAGACTTCCTTATTGCTG	0.408																																						uc003hpz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(1)|kidney(1)	6						c.(2095-2097)TCC>TAC		protein tyrosine phosphatase, non-receptor type							198.0	192.0	194.0					4																	87655973		1922	4138	6060	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87655973C>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.2096C>A	4.37:g.87655973C>A	ENSP00000407249:p.Ser699Tyr					PTPN13_uc003hpy.2_Missense_Mutation_p.S699Y|PTPN13_uc003hqa.2_Missense_Mutation_p.S699Y|PTPN13_uc003hqb.2_Missense_Mutation_p.S699Y	p.S699Y	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	14	2576	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	699			FERM.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.2096C>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404572	0.83230	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.85	5.0	0.66597	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.273538	0.26241	N	0.025513	T	0.81479	0.4831	L	0.29908	0.895	0.42726	D	0.993698	D;D;D;D	0.64830	0.994;0.97;0.987;0.983	P;P;D;P	0.63703	0.879;0.807;0.917;0.865	D	0.84210	0.0455	10	0.72032	D	0.01	.	16.9567	0.86261	0.0:0.8723:0.1277:0.0	.	699;699;699;699	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Y	699;699;699;699;699;667	ENSP00000408368:S699Y;ENSP00000394794:S699Y;ENSP00000322675:S699Y;ENSP00000407249:S699Y;ENSP00000426626:S699Y	ENSP00000322675:S699Y	S	+	2	0	PTPN13	87874997	1.000000	0.71417	0.366000	0.25914	0.996000	0.88848	4.651000	0.61447	1.443000	0.47586	0.655000	0.94253	TCC		PASS	0.408	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			7	223	7	223	---	---	---	---
HERC3	8916	broad.mit.edu	37	4	89574214	89574214	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:89574214G>A	ENST00000402738.1	+	6	897	c.658G>A	c.(658-660)Ggg>Agg	p.G220R	HERC3_ENST00000407637.1_Missense_Mutation_p.G220R|HERC3_ENST00000264345.3_Missense_Mutation_p.G220R	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	220					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G220R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAATAATGCCGGGCAGCTAGG	0.493																																						uc003hrw.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|prostate(1)|skin(1)	4						c.(658-660)GGG>AGG		hect domain and RLD 3							65.0	72.0	70.0					4																	89574214		2203	4300	6503	SO:0001583	missense	8916				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	g.chr4:89574214G>A	D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.658G>A	4.37:g.89574214G>A	ENSP00000385684:p.Gly220Arg					HERC3_uc003hrv.2_Missense_Mutation_p.G220R|HERC3_uc011cdn.1_Missense_Mutation_p.G102R	p.G220R	NM_014606	NP_055421	Q15034	HERC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000319)	6	824	+			220			RCC1 5.		A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	c.658G>A	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.623678	0.87460	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000452979;ENST00000264345	D;D;D;D	0.92647	-3.08;-3.08;-2.12;-3.08	4.94	4.94	0.65067	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.053483	0.85682	D	0.000000	D	0.97782	0.9272	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99320	1.0906	10	0.87932	D	0	.	18.3578	0.90364	0.0:0.0:1.0:0.0	.	220;220	Q15034;Q8IXX3	HERC3_HUMAN;.	R	220	ENSP00000385684:G220R;ENSP00000384005:G220R;ENSP00000406210:G220R;ENSP00000264345:G220R	ENSP00000264345:G220R	G	+	1	0	HERC3	89793237	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	9.256000	0.95535	2.548000	0.85928	0.586000	0.80456	GGG		PASS	0.493	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2	NM_014606		9	91	9	91	---	---	---	---
HPGDS	27306	broad.mit.edu	37	4	95220778	95220778	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:95220778G>A	ENST00000295256.5	-	6	543	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	151	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)	p.F151F(1)		breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TCTCCCAGTAGAAGTCTGCCC	0.388																																					Colon(86;1802 1843 17863 46794)	uc003hte.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(451-453)TTC>TTT		prostaglandin D2 synthase, hematopoietic	Glutathione(DB00143)						95.0	92.0	93.0					4																	95220778		2203	4300	6503	SO:0001819	synonymous_variant	27306				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity	g.chr4:95220778G>A	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.453C>T	4.37:g.95220778G>A							p.F151F	NM_014485	NP_055300	O60760	HPGDS_HUMAN			6	544	-			151			GST C-terminal.		Q6FHT9	Silent	SNP	ENST00000295256.5	37	c.453C>T	CCDS3640.1																																																																																				PASS	0.388	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253587.1	NM_014485		10	57	10	57	---	---	---	---
ADH4	127	broad.mit.edu	37	4	100057749	100057749	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:100057749A>T	ENST00000265512.7	-	5	524	c.450T>A	c.(448-450)agT>agA	p.S150R	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000508393.1_Missense_Mutation_p.S169R|ADH4_ENST00000423445.1_Missense_Mutation_p.S169R|ADH4_ENST00000505590.1_Missense_Mutation_p.S169R	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	150					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.S150R(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		GAGAGAATGTACTGGTTCCAA	0.388																																						uc003hun.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(448-450)AGT>AGA		class II alcohol dehydrogenase, pi subunit	NADH(DB00157)						156.0	148.0	151.0					4																	100057749		2203	4300	6503	SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100057749A>T	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.450T>A	4.37:g.100057749A>T	ENSP00000265512:p.Ser150Arg					uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.S169R	p.S150R	NM_000670	NP_000661	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	5	526	-			150					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	SNP	ENST00000265512.7	37	c.450T>A	CCDS34032.1	.	.	.	.	.	.	.	.	.	.	A	12.87	2.066886	0.36470	.	.	ENSG00000198099	ENST00000508393;ENST00000265512;ENST00000423445;ENST00000505590;ENST00000512499;ENST00000504125	T;T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5;3.5	4.55	-1.13	0.09775	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.29914	0.0748	H	0.97587	4.035	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.999	T	0.08700	-1.0709	10	0.87932	D	0	-1.8952	5.3013	0.15780	0.3653:0.0:0.4751:0.1596	.	169;150	P08319-2;P08319	.;ADH4_HUMAN	R	169;150;169;169;169;132	ENSP00000424630:S169R;ENSP00000265512:S150R;ENSP00000397939:S169R;ENSP00000425416:S169R;ENSP00000423571:S169R;ENSP00000427525:S132R	ENSP00000265512:S150R	S	-	3	2	ADH4	100276772	0.151000	0.22747	0.740000	0.30986	0.043000	0.13939	-0.555000	0.05999	0.001000	0.14605	-0.297000	0.09499	AGT		PASS	0.388	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		13	79	13	79	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126336234	126336234	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:126336234T>C	ENST00000394329.3	+	5	6129	c.6116T>C	c.(6115-6117)aTt>aCt	p.I2039T	FAT4_ENST00000335110.5_Missense_Mutation_p.I337T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2039	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I2039T(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAAGTCTCCATTATTTTGTTG	0.408																																						uc003ifj.3																			2	Substitution - Missense(2)		lung(2)	ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(6115-6117)ATT>ACT		FAT tumor suppressor homolog 4 precursor							165.0	167.0	166.0					4																	126336234		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126336234T>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6116T>C	4.37:g.126336234T>C	ENSP00000377862:p.Ile2039Thr					FAT4_uc011cgp.1_Missense_Mutation_p.I337T	p.I2039T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			5	6116	+			2039			Cadherin 19.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6116T>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	T	21.0	4.088238	0.76756	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.61040	0.14;0.14	5.0	5.0	0.66597	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34725	U	0.003733	D	0.83440	0.5255	H	0.97635	4.045	0.58432	D	0.999997	D;D	0.65815	0.995;0.986	D;P	0.66716	0.946;0.836	D	0.89543	0.3794	10	0.87932	D	0	.	14.7367	0.69422	0.0:0.0:0.0:1.0	.	337;2039	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	T	2039;337	ENSP00000377862:I2039T;ENSP00000335169:I337T	ENSP00000335169:I337T	I	+	2	0	FAT4	126555684	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.831000	0.86748	1.873000	0.54277	0.455000	0.32223	ATT		PASS	0.408	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		21	181	21	181	---	---	---	---
UCP1	7350	broad.mit.edu	37	4	141489037	141489037	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:141489037A>T	ENST00000262999.3	-	2	296	c.221T>A	c.(220-222)cTc>cAc	p.L74H		NM_021833.4	NP_068605.1	P25874	UCP1_HUMAN	uncoupling protein 1 (mitochondrial, proton carrier)	74					brown fat cell differentiation (GO:0050873)|cellular metabolic process (GO:0044237)|mitochondrial transport (GO:0006839)|proton transport (GO:0015992)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	oxidative phosphorylation uncoupler activity (GO:0017077)	p.L74H(1)		NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					CCCGCTGTAGAGTTTCATCCG	0.562																																						uc011chj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(220-222)CTC>CAC		uncoupling protein 1							76.0	81.0	80.0					4																	141489037		2203	4300	6503	SO:0001583	missense	7350				brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding	g.chr4:141489037A>T	X51955	CCDS3753.1	4q28-q31	2013-05-22			ENSG00000109424	ENSG00000109424		"""Solute carriers"""	12517	protein-coding gene	gene with protein product		113730		UCP		2380264	Standard	NM_021833		Approved	SLC25A7	uc011chj.2	P25874	OTTHUMG00000133415	ENST00000262999.3:c.221T>A	4.37:g.141489037A>T	ENSP00000262999:p.Leu74His					UCP1_uc011chk.1_Missense_Mutation_p.L74H	p.L74H	NM_021833	NP_068605	P25874	UCP1_HUMAN			2	297	-	all_hematologic(180;0.162)		74			Solcar 1.|Helical; Name=2; (Potential).		Q13218|Q4KMZ3|Q68G66	Missense_Mutation	SNP	ENST00000262999.3	37	c.221T>A	CCDS3753.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.992596	0.74703	.	.	ENSG00000109424	ENST00000262999	D	0.85556	-2.0	5.51	4.34	0.51931	Mitochondrial carrier domain (2);	0.066694	0.64402	D	0.000011	D	0.95443	0.8520	H	0.99642	4.675	0.48632	D	0.999689	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	D	0.94814	0.7981	10	0.87932	D	0	.	9.5006	0.39015	0.9159:0.0:0.0841:0.0	.	74;74	Q4KMT7;P25874	.;UCP1_HUMAN	H	74	ENSP00000262999:L74H	ENSP00000262999:L74H	L	-	2	0	UCP1	141708487	1.000000	0.71417	0.883000	0.34634	0.637000	0.38172	5.885000	0.69736	0.937000	0.37394	0.533000	0.62120	CTC		PASS	0.562	UCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257273.1			9	127	9	127	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153896413	153896413	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:153896413C>T	ENST00000511601.1	+	12	2158	c.1970C>T	c.(1969-1971)tCa>tTa	p.S657L	FHDC1_ENST00000260008.3_Missense_Mutation_p.S657L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	657								p.S657L(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGCCTGGGCTCAGCACAGTCC	0.637																																						uc003inf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1969-1971)TCA>TTA		FH2 domain containing 1							33.0	36.0	35.0					4																	153896413		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153896413C>T	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1970C>T	4.37:g.153896413C>T	ENSP00000427567:p.Ser657Leu						p.S657L	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	2045	+	all_hematologic(180;0.093)		657						Missense_Mutation	SNP	ENST00000511601.1	37	c.1970C>T	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	C	9.892	1.204439	0.22205	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.30448	1.53;1.53	5.29	4.43	0.53597	.	1.425770	0.04248	N	0.338176	T	0.16428	0.0395	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06881	-1.0802	10	0.15499	T	0.54	.	10.3523	0.43943	0.0:0.8458:0.0:0.1542	.	657	Q9C0D6	FHDC1_HUMAN	L	657	ENSP00000427567:S657L;ENSP00000260008:S657L	ENSP00000260008:S657L	S	+	2	0	FHDC1	154115863	0.001000	0.12720	0.010000	0.14722	0.002000	0.02628	1.211000	0.32382	2.622000	0.88805	0.563000	0.77884	TCA		PASS	0.637	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		4	55	4	55	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169305853	169305853	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:169305853C>G	ENST00000511577.1	-	30	4273	c.4026G>C	c.(4024-4026)ctG>ctC	p.L1342L	DDX60L_ENST00000260184.7_Silent_p.L1342L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1342	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.L1343L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACTGTCCTCTCAGCTCAGGAA	0.502																																						uc003irq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4024-4026)CTG>CTC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							74.0	74.0	74.0					4																	169305853		2203	4300	6503	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169305853C>G	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4026G>C	4.37:g.169305853C>G							p.L1342L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	30	4247	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1342			Helicase C-terminal.		Q96ND6	Silent	SNP	ENST00000511577.1	37	c.4026G>C																																																																																					PASS	0.502	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		5	40	5	40	---	---	---	---
DCTD	1635	broad.mit.edu	37	4	183812586	183812586	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:183812586G>A	ENST00000438320.2	-	6	793	c.503C>T	c.(502-504)tCa>tTa	p.S168L	DCTD_ENST00000510370.1_Missense_Mutation_p.S168L|DCTD_ENST00000357067.3_Missense_Mutation_p.S179L	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	168					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	dCMP deaminase activity (GO:0004132)|zinc ion binding (GO:0008270)	p.S168L(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	Cytarabine(DB00987)	GCTGTTAATTGAATCAAAGTC	0.348																																						uc003ivf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(502-504)TCA>TTA		dCMP deaminase isoform b							183.0	183.0	183.0					4																	183812586		2203	4300	6503	SO:0001583	missense	1635				nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	g.chr4:183812586G>A	L12136	CCDS3831.1, CCDS34108.1	4q35.1	2008-08-01			ENSG00000129187	ENSG00000129187	3.5.4.12		2710	protein-coding gene	gene with protein product		607638					Standard	XM_005262778		Approved		uc003ivg.3	P32321	OTTHUMG00000160685	ENST00000438320.2:c.503C>T	4.37:g.183812586G>A	ENSP00000398194:p.Ser168Leu					DCTD_uc003ivg.2_Missense_Mutation_p.S179L|DCTD_uc010irw.2_Missense_Mutation_p.S109L|DCTD_uc003ivh.2_Missense_Mutation_p.S109L	p.S168L	NM_001921	NP_001912	P32321	DCTD_HUMAN		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)	6	677	-		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)	168					B2R836|D3DP49|D3DP50|Q5M7Z8|Q9BVD8	Missense_Mutation	SNP	ENST00000438320.2	37	c.503C>T	CCDS3831.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919287	0.73098	.	.	ENSG00000129187	ENST00000357067;ENST00000438320;ENST00000510370;ENST00000503182	.	.	.	5.63	5.63	0.86233	Cytidine deaminase-like (1);	0.072876	0.64402	D	0.000008	T	0.75376	0.3841	M	0.65975	2.015	0.80722	D	1	P;D;P;B	0.64830	0.863;0.994;0.822;0.077	B;P;B;B	0.57960	0.197;0.83;0.419;0.016	T	0.74627	-0.3602	9	0.45353	T	0.12	-4.2987	19.6959	0.96026	0.0:0.0:1.0:0.0	.	168;109;179;168	D6RBJ9;B4DDC2;P32321-2;P32321	.;.;.;DCTD_HUMAN	L	179;168;168;168	.	ENSP00000349576:S179L	S	-	2	0	DCTD	184049580	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.821000	0.86641	2.659000	0.90383	0.650000	0.86243	TCA		PASS	0.348	DCTD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361743.2			5	208	5	208	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540391	187540391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr4:187540391G>C	ENST00000441802.2	-	10	7558	c.7349C>G	c.(7348-7350)tCa>tGa	p.S2450*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2450	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2450*(2)|p.S2453*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCAGGTTTGAGAGGGTGAT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			4	Substitution - Nonsense(4)		lung(4)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(7348-7350)TCA>TGA		FAT tumor suppressor 1 precursor							160.0	166.0	164.0					4																	187540391		2055	4199	6254	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540391G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7349C>G	4.37:g.187540391G>C	ENSP00000406229:p.Ser2450*	HNSCC(5;0.00058)					p.S2450*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7537	-			2450			Extracellular (Potential).|Cadherin 22.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.7349C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	47	13.224743	0.99728	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	X	2450;2452	.	ENSP00000260147:S2452X	S	-	2	0	FAT1	187777385	1.000000	0.71417	0.983000	0.44433	0.038000	0.13279	9.601000	0.98297	2.890000	0.99128	0.650000	0.86243	TCA		PASS	0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		24	214	24	214	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886084	26886084	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:26886084C>T	ENST00000231021.4	-	10	1793	c.1621G>A	c.(1621-1623)Gat>Aat	p.D541N		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	541	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.D541N(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCTTTATTATCTACAATGGTG	0.303																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(1621-1623)GAT>AAT		cadherin 9, type 2 preproprotein							53.0	61.0	58.0					5																	26886084		2201	4294	6495	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886084C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1621G>A	5.37:g.26886084C>T	ENSP00000231021:p.Asp541Asn					CDH9_uc011cnv.1_Missense_Mutation_p.D134N	p.D541N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			10	1790	-			541			Extracellular (Potential).|Cadherin 5.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.1621G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262501	0.80358	.	.	ENSG00000113100	ENST00000231021	T	0.50813	0.73	5.76	5.76	0.90799	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.68659	0.3025	M	0.79475	2.455	0.80722	D	1	P;D	0.67145	0.95;0.996	P;D	0.63283	0.817;0.913	T	0.68812	-0.5310	9	.	.	.	.	18.5403	0.91025	0.0:1.0:0.0:0.0	.	134;541	B4DFP0;Q9ULB4	.;CADH9_HUMAN	N	541	ENSP00000231021:D541N	.	D	-	1	0	CDH9	26921841	1.000000	0.71417	0.991000	0.47740	0.913000	0.54294	4.894000	0.63206	2.733000	0.93635	0.467000	0.42956	GAT		PASS	0.303	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		6	195	6	195	---	---	---	---
DROSHA	29102	broad.mit.edu	37	5	31464342	31464342	+	Splice_Site	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:31464342C>A	ENST00000511367.2	-	19	2819		c.e19+1		DROSHA_ENST00000344624.3_Splice_Site|DROSHA_ENST00000442743.1_Splice_Site|DROSHA_ENST00000513349.1_Splice_Site	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III						defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)	p.?(1)		breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						AGTCTCCCCACCTGACAGACA	0.408																																						uc003jhg.2																			1	Unknown(1)		lung(1)		0						c.e19+1		ribonuclease III, nuclear isoform 1							89.0	88.0	88.0					5																	31464342		1892	4120	6012	SO:0001630	splice_region_variant	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31464342C>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.2574+1G>T	5.37:g.31464342C>A						RNASEN_uc003jhh.2_Splice_Site_p.Q821_splice|RNASEN_uc003jhi.2_Splice_Site_p.Q821_splice	p.Q858_splice	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN			19	2933	-								E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Splice_Site	SNP	ENST00000511367.2	37	c.2574_splice	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174724	0.78452	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3248	0.98698	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DROSHA	31500099	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	7.360000	0.79487	2.818000	0.97014	0.655000	0.94253	.		PASS	0.408	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	NM_013235	Intron	13	59	13	59	---	---	---	---
SUB1	10923	broad.mit.edu	37	5	32599095	32599095	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:32599095G>A	ENST00000265073.4	+	4	352	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SUB1_ENST00000504789.1_3'UTR|SUB1_ENST00000515355.1_Missense_Mutation_p.R75H|SUB1_ENST00000502897.1_Missense_Mutation_p.R75H|SUB1_ENST00000512913.1_Missense_Mutation_p.R75H	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	75					regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|single-stranded DNA binding (GO:0003697)|transcription coactivator activity (GO:0003713)	p.R75H(2)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GTTAGTGTTCGCGATTTTAAA	0.353																																						uc003jhs.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(223-225)CGC>CAC		activated RNA polymerase II transcription							132.0	130.0	131.0					5																	32599095		2203	4300	6503	SO:0001583	missense	10923				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity	g.chr5:32599095G>A	X79805	CCDS3897.1	5p13.3	2008-02-05			ENSG00000113387	ENSG00000113387			19985	protein-coding gene	gene with protein product		600503				8062392, 8062391	Standard	NM_006713		Approved	PC4, p15, p14	uc003jhs.2	P53999	OTTHUMG00000131071	ENST00000265073.4:c.224G>A	5.37:g.32599095G>A	ENSP00000265073:p.Arg75His					SUB1_uc003jht.2_RNA	p.R75H	NM_006713	NP_006704	P53999	TCP4_HUMAN			4	352	+			75	R->G: Reduced ssDNA binding.				Q96L29	Missense_Mutation	SNP	ENST00000265073.4	37	c.224G>A	CCDS3897.1	.	.	.	.	.	.	.	.	.	.	G	33	5.274665	0.95459	.	.	ENSG00000113387	ENST00000506237;ENST00000512913;ENST00000265073;ENST00000542111;ENST00000515355;ENST00000502897	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.38	5.38	0.77491	Transcriptional coactivator p15 (1);ssDNA-binding transcriptional regulator (2);	0.000000	0.85682	D	0.000000	T	0.75975	0.3923	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81208	-0.1037	10	0.72032	D	0.01	.	19.1358	0.93428	0.0:0.0:1.0:0.0	.	75	P53999	TCP4_HUMAN	H	75	ENSP00000422078:R75H;ENSP00000422806:R75H;ENSP00000265073:R75H;ENSP00000426850:R75H;ENSP00000427100:R75H	ENSP00000265073:R75H	R	+	2	0	SUB1	32634852	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	9.382000	0.97209	2.523000	0.85059	0.650000	0.86243	CGC		PASS	0.353	SUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253730.1	NM_006713		7	86	7	86	---	---	---	---
C9	735	broad.mit.edu	37	5	39306829	39306829	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:39306829A>T	ENST00000263408.4	-	9	1401	c.1306T>A	c.(1306-1308)Tat>Aat	p.Y436N		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	436	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)		p.Y436N(1)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCAAATGCATATTTTCTGGTT	0.403																																						uc003jlv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1306-1308)TAT>AAT		complement component 9 precursor							127.0	108.0	115.0					5																	39306829		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39306829A>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1306T>A	5.37:g.39306829A>T	ENSP00000263408:p.Tyr436Asn						p.Y436N	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		9	1395	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	436			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.1306T>A	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	A	9.203	1.028867	0.19512	.	.	ENSG00000113600	ENST00000263408	D	0.83673	-1.75	4.98	1.16	0.20824	Membrane attack complex component/perforin (MACPF) domain (3);	0.752560	0.13770	N	0.363957	D	0.82351	0.5018	M	0.76002	2.32	0.09310	N	1	P	0.50369	0.934	P	0.50537	0.643	T	0.70270	-0.4918	10	0.36615	T	0.2	-8.4497	2.4918	0.04612	0.4859:0.2903:0.0833:0.1405	.	436	P02748	CO9_HUMAN	N	436	ENSP00000263408:Y436N	ENSP00000263408:Y436N	Y	-	1	0	C9	39342586	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	0.378000	0.20569	0.042000	0.15717	0.460000	0.39030	TAT		PASS	0.403	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			30	113	30	113	---	---	---	---
CARD6	84674	broad.mit.edu	37	5	40852847	40852847	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:40852847C>G	ENST00000254691.5	+	3	1612	c.1413C>G	c.(1411-1413)ctC>ctG	p.L471L	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	471					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.L471L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CCAGAATCCTCAACACACTTC	0.453																																						uc003jmg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(1411-1413)CTC>CTG		caspase recruitment domain family, member 6							79.0	81.0	81.0					5																	40852847		2203	4300	6503	SO:0001819	synonymous_variant	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852847C>G	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1413C>G	5.37:g.40852847C>G							p.L471L	NM_032587	NP_115976	Q9BX69	CARD6_HUMAN			3	1488	+			471					Q52LR2	Silent	SNP	ENST00000254691.5	37	c.1413C>G	CCDS3935.1																																																																																				PASS	0.453	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			15	125	15	125	---	---	---	---
OTP	23440	broad.mit.edu	37	5	76932787	76932787	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:76932787C>T	ENST00000306422.3	-	2	1444	c.306G>A	c.(304-306)caG>caA	p.Q102Q	OTP_ENST00000515716.1_5'UTR	NM_032109.2	NP_115485.1	Q5XKR4	OTP_HUMAN	orthopedia homeobox	102					forebrain neuron differentiation (GO:0021879)|hypothalamus cell differentiation (GO:0021979)|neurohypophysis development (GO:0021985)|positive regulation of neuroblast proliferation (GO:0002052)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.Q102Q(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)	13		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)		GCTTCTGCTTCTGTTGGCCCT	0.677																																						uc003kfg.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(304-306)CAG>CAA		orthopedia homeobox							79.0	85.0	83.0					5																	76932787		2203	4300	6503	SO:0001819	synonymous_variant	23440					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:76932787C>T		CCDS4039.1	5q14.1	2011-06-20	2007-02-15		ENSG00000171540	ENSG00000171540		"""Homeoboxes / PRD class"""	8518	protein-coding gene	gene with protein product		604529	"""orthopedia homolog (Drosophila)"""			10458915	Standard	NM_032109		Approved		uc003kfg.3	Q5XKR4	OTTHUMG00000102171	ENST00000306422.3:c.306G>A	5.37:g.76932787C>T							p.Q102Q	NM_032109	NP_115485	Q5XKR4	OTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41)	2	454	-		all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)	102						Silent	SNP	ENST00000306422.3	37	c.306G>A	CCDS4039.1																																																																																				PASS	0.677	OTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220016.2			9	147	9	147	---	---	---	---
TTC37	9652	broad.mit.edu	37	5	94852864	94852864	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:94852864G>C	ENST00000358746.2	-	21	2575	c.2277C>G	c.(2275-2277)ctC>ctG	p.L759L	TTC37_ENST00000515176.1_5'Flank	NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	759						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)		p.L759L(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTCCAAGGTGGAGGAGCTCAT	0.358																																						uc003klb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(2275-2277)CTC>CTG		tetratricopeptide repeat domain 37							96.0	86.0	89.0					5																	94852864		2203	4299	6502	SO:0001819	synonymous_variant	9652						binding	g.chr5:94852864G>C	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.2277C>G	5.37:g.94852864G>C							p.L759L	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			21	2547	-			759					O15077|Q6PJI3	Silent	SNP	ENST00000358746.2	37	c.2277C>G	CCDS4072.1																																																																																				PASS	0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		5	52	5	52	---	---	---	---
PCSK1	5122	broad.mit.edu	37	5	95759116	95759116	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:95759116C>G	ENST00000311106.3	-	4	681	c.444G>C	c.(442-444)gtG>gtC	p.V148V	PCSK1_ENST00000508626.1_Silent_p.V101V|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	148					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.V148V(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAACAGGTATCACATGAAGGT	0.438																																						uc003kls.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(442-444)GTG>GTC		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						161.0	120.0	134.0					5																	95759116		2203	4300	6503	SO:0001819	synonymous_variant	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95759116C>G		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.444G>C	5.37:g.95759116C>G							p.V148V	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	4	650	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	148			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	c.444G>C	CCDS4081.1																																																																																				PASS	0.438	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		4	46	4	46	---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138654711	138654711	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:138654711A>T	ENST00000394805.3	+	8	1758	c.1423A>T	c.(1423-1425)Aaa>Taa	p.K475*	MATR3_ENST00000361059.2_Nonsense_Mutation_p.K475*|MATR3_ENST00000509990.1_Nonsense_Mutation_p.K475*|MATR3_ENST00000502499.1_Nonsense_Mutation_p.K137*|MATR3_ENST00000394800.2_Nonsense_Mutation_p.K475*|MATR3_ENST00000510056.1_Nonsense_Mutation_p.K475*|MATR3_ENST00000502929.1_Nonsense_Mutation_p.K475*|MATR3_ENST00000504203.1_Nonsense_Mutation_p.K137*|MATR3_ENST00000503811.1_Nonsense_Mutation_p.K187*	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	475					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.K475*(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCAGAAGTATAAAAGAATAAA	0.353																																						uc003ldu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1423-1425)AAA>TAA		matrin 3							42.0	43.0	43.0					5																	138654711		2203	4300	6503	SO:0001587	stop_gained	9782					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding	g.chr5:138654711A>T	M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1423A>T	5.37:g.138654711A>T	ENSP00000378284:p.Lys475*					MATR3_uc010jfb.2_Nonsense_Mutation_p.K475*|MATR3_uc003ldt.2_Nonsense_Mutation_p.K137*|MATR3_uc003ldw.2_Nonsense_Mutation_p.K475*|MATR3_uc003ldx.2_Nonsense_Mutation_p.K475*|MATR3_uc010jfc.2_Nonsense_Mutation_p.K475*|MATR3_uc003ldy.2_Nonsense_Mutation_p.K152*|MATR3_uc011czb.1_Nonsense_Mutation_p.K187*|MATR3_uc003ldz.2_Nonsense_Mutation_p.K475*|MATR3_uc003lea.2_Nonsense_Mutation_p.K475*|MATR3_uc003leb.2_Nonsense_Mutation_p.K137*|MATR3_uc003lec.2_Nonsense_Mutation_p.K152*	p.K475*	NM_199189	NP_954659	P43243	MATR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		11	1850	+			475					B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Nonsense_Mutation	SNP	ENST00000394805.3	37	c.1423A>T	CCDS4210.1	.	.	.	.	.	.	.	.	.	.	A	43	10.225148	0.99364	.	.	ENSG00000015479	ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000394805;ENST00000502499;ENST00000510056;ENST00000511249;ENST00000503811	.	.	.	5.8	5.8	0.92144	.	0.198199	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.7361	16.1461	0.81569	1.0:0.0:0.0:0.0	.	.	.	.	X	475;475;137;475;475;475;137;475;73;187	.	ENSP00000354346:K475X	K	+	1	0	MATR3	138682610	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.402000	0.73260	2.219000	0.72066	0.533000	0.62120	AAA		PASS	0.353	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2	NM_018834		4	45	4	45	---	---	---	---
PCDHAC2	56134	broad.mit.edu	37	5	140346482	140346482	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:140346482T>A	ENST00000289269.5	+	1	663	c.131T>A	c.(130-132)cTg>cAg	p.L44Q	PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	44	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L44Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCCCAGCTGCGATACTCT	0.701																																					Melanoma(190;638 2083 3390 11909 52360)	uc003lii.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(130-132)CTG>CAG		protocadherin alpha subfamily C, 2 isoform 1							9.0	9.0	9.0					5																	140346482		2164	4242	6406	SO:0001583	missense	56134				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140346482T>A	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.131T>A	5.37:g.140346482T>A	ENSP00000289269:p.Leu44Gln					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_uc003lih.2_Intron|PCDHAC2_uc011dag.1_Missense_Mutation_p.L44Q	p.L44Q	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	371	+			44			Cadherin 1.|Extracellular (Potential).		Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	c.131T>A	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.504092	0.85176	.	.	ENSG00000243232	ENST00000289269	T	0.39787	1.06	5.57	5.57	0.84162	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.236049	0.21795	N	0.069020	T	0.60637	0.2284	M	0.83953	2.67	0.51482	D	0.999926	P;P	0.51147	0.896;0.942	P;P	0.55455	0.73;0.776	T	0.66634	-0.5874	10	0.87932	D	0	.	11.7018	0.51575	0.0:0.0:0.1476:0.8524	.	44;44	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	Q	44	ENSP00000289269:L44Q	ENSP00000289269:L44Q	L	+	2	0	PCDHAC2	140326666	0.844000	0.29557	1.000000	0.80357	0.973000	0.67179	4.021000	0.57196	2.127000	0.65507	0.459000	0.35465	CTG		PASS	0.701	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899		5	12	5	12	---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554092	140554092	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:140554092C>A	ENST00000231137.3	+	1	1850	c.1676C>A	c.(1675-1677)cCc>cAc	p.P559H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	559	Cadherin 5. {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.P559H(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)			GACAACTCGCCCTTCGTGCTG	0.726																																						uc003lit.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1675-1677)CCC>CAC		protocadherin beta 7 precursor							27.0	32.0	30.0					5																	140554092		2183	4282	6465	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140554092C>A	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.1676C>A	5.37:g.140554092C>A	ENSP00000231137:p.Pro559His						p.P559H	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1850	+			559			Extracellular (Potential).|Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1676C>A	CCDS4249.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	23.4|23.4	4.406591|4.406591	0.83230|0.83230	.|.	.|.	ENSG00000113212|ENSG00000113212	ENST00000231137|ENST00000543636	T|.	0.04083|.	3.71|.	4.3|4.3	4.3|4.3	0.51218|0.51218	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.90648|0.90648	0.7067|0.7067	H|H	0.98866|0.98866	4.355|4.355	0.54753|0.54753	D|D	0.999983|0.999983	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.94816|0.94816	0.7983|0.7983	9|6	0.87932|0.87932	D|D	0|0	.|.	16.79|16.79	0.85586|0.85586	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	559|.	Q9Y5E2|.	PCDB7_HUMAN|.	H|T	559|342	ENSP00000231137:P559H|.	ENSP00000231137:P559H|ENSP00000440828:P342T	P|P	+|+	2|1	0|0	PCDHB7|PCDHB7	140534276|140534276	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	5.752000|5.752000	0.68728|0.68728	2.099000|2.099000	0.63709|0.63709	0.449000|0.449000	0.29647|0.29647	CCC|CCT		PASS	0.726	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		8	90	8	90	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156390205	156390205	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:156390205G>C	ENST00000274532.2	-	1	61	c.5C>G	c.(4-6)tCc>tGc	p.S2C	TIMD4_ENST00000407087.3_Missense_Mutation_p.S2C	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	2						integral component of membrane (GO:0016021)		p.S2C(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTTCTTTGGACATTTTGAC	0.448																																						uc003lwh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(4-6)TCC>TGC		T-cell immunoglobulin and mucin domain							124.0	118.0	120.0					5																	156390205		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156390205G>C	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.5C>G	5.37:g.156390205G>C	ENSP00000274532:p.Ser2Cys					TIMD4_uc010jii.2_Missense_Mutation_p.S2C	p.S2C	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	62	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	2					B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.5C>G	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.503795	0.44558	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.28895	1.59;1.67	5.7	5.7	0.88788	.	0.368798	0.23391	N	0.048699	T	0.43033	0.1229	L	0.34521	1.04	0.33690	D	0.613203	D;D	0.76494	0.999;0.999	D;D	0.64042	0.921;0.921	T	0.52343	-0.8588	10	0.52906	T	0.07	-8.2111	15.3472	0.74346	0.0:0.0:1.0:0.0	.	2;2	B5MCL9;Q96H15	.;TIMD4_HUMAN	C	2	ENSP00000274532:S2C;ENSP00000385973:S2C	ENSP00000274532:S2C	S	-	2	0	TIMD4	156322783	1.000000	0.71417	0.933000	0.37362	0.105000	0.19272	2.807000	0.47955	2.688000	0.91661	0.655000	0.94253	TCC		PASS	0.448	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		13	138	13	138	---	---	---	---
THG1L	54974	broad.mit.edu	37	5	157158520	157158520	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:157158520G>C	ENST00000231198.7	+	1	316	c.72G>C	c.(70-72)ctG>ctC	p.L24L		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	24					protein homotetramerization (GO:0051289)|tRNA modification (GO:0006400)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|tRNA binding (GO:0000049)|tRNA guanylyltransferase activity (GO:0008193)	p.L24L(1)		NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACGGTACCTGAGATTGGGGG	0.557																																						uc003lxd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(70-72)CTG>CTC		interphase cytoplasmic foci protein 45							198.0	178.0	185.0					5																	157158520		2203	4300	6503	SO:0001819	synonymous_variant	54974				protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity	g.chr5:157158520G>C	AK223119	CCDS4341.1	5q33.3	2008-02-05			ENSG00000113272	ENSG00000113272			26053	protein-coding gene	gene with protein product	"""interphase cytoplasmic foci protein 45"""					11230166	Standard	XM_005265939		Approved	ICF45, FLJ11601, FLJ20546	uc003lxd.3	Q9NWX6	OTTHUMG00000130254	ENST00000231198.7:c.72G>C	5.37:g.157158520G>C						THG1L_uc011ddu.1_5'UTR	p.L24L	NM_017872	NP_060342	Q9NWX6	THG1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		1	198	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	24					D3DQJ5|Q53G12|Q7L5R3|Q9H0S2	Silent	SNP	ENST00000231198.7	37	c.72G>C	CCDS4341.1																																																																																				PASS	0.557	THG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252579.2	NM_017872		4	167	4	167	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158585685	158585685	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:158585685G>A	ENST00000424310.2	-	11	2344	c.1985C>T	c.(1984-1986)tCa>tTa	p.S662L	RNF145_ENST00000274542.2_Missense_Mutation_p.S690L|RNF145_ENST00000521606.2_Missense_Mutation_p.S679L|RNF145_ENST00000518802.1_Missense_Mutation_p.S692L|RNF145_ENST00000519865.1_Missense_Mutation_p.S662L|RNF145_ENST00000520638.1_Missense_Mutation_p.S676L|RNF145_ENST00000518284.1_5'UTR	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	662						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.S690L(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCTAGGCTGATTCAACAGG	0.423																																						uc003lxp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1984-1986)TCA>TTA		ring finger protein 145							124.0	133.0	130.0					5																	158585685		2203	4300	6503	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158585685G>A	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.1985C>T	5.37:g.158585685G>A	ENSP00000409064:p.Ser662Leu					RNF145_uc011ddy.1_Missense_Mutation_p.S676L|RNF145_uc003lxo.1_Missense_Mutation_p.S690L|RNF145_uc011ddz.1_Missense_Mutation_p.S679L|RNF145_uc010jiq.1_Missense_Mutation_p.S692L	p.S662L	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		11	2298	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	662					B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.1985C>T	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	G	4.965	0.179167	0.09443	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.78707	-1.19;-1.13;-1.13;-1.16;-1.16;-1.2;-1.15	5.0	4.11	0.48088	.	1.551260	0.04121	N	0.316271	T	0.65852	0.2731	N	0.08118	0	0.09310	N	0.999998	B;B;B;B;B	0.20052	0.002;0.002;0.008;0.041;0.013	B;B;B;B;B	0.18561	0.007;0.007;0.016;0.007;0.022	T	0.55055	-0.8200	10	0.46703	T	0.11	3.237	13.0204	0.58784	0.0:0.0:0.8386:0.1614	.	679;676;692;662;690	B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;RN145_HUMAN;.	L	690;662;662;678;679;692;662;676	ENSP00000274542:S690L;ENSP00000430397:S662L;ENSP00000409064:S662L;ENSP00000430753:S678L;ENSP00000445115:S679L;ENSP00000430955:S692L;ENSP00000429071:S676L	ENSP00000274542:S690L	S	-	2	0	RNF145	158518263	0.782000	0.28689	0.004000	0.12327	0.011000	0.07611	3.663000	0.54518	1.069000	0.40788	0.655000	0.94253	TCA		PASS	0.423	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		18	213	18	213	---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160047610	160047610	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:160047610C>G	ENST00000327245.5	-	15	3006	c.2160G>C	c.(2158-2160)gaG>gaC	p.E720D	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	720					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E720D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATCAGGGCTCTCAGCCTCGT	0.642																																						uc003lym.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(2158-2160)GAG>GAC		ATPase, class V, type 10B							33.0	37.0	36.0					5																	160047610		2089	4232	6321	SO:0001583	missense	23120				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.chr5:160047610C>G	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2160G>C	5.37:g.160047610C>G	ENSP00000313600:p.Glu720Asp					ATP10B_uc010jit.1_Missense_Mutation_p.E37D|ATP10B_uc003lyn.2_Missense_Mutation_p.E278D	p.E720D	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		15	3007	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	720			Cytoplasmic (Potential).		Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	c.2160G>C	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144911	0.77888	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	T;T	0.71934	-0.61;-0.61	5.36	4.49	0.54785	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.82716	2.605	0.52501	D	0.999956	D;D	0.76494	0.999;0.998	D;D	0.72075	0.976;0.953	T	0.82853	-0.0252	9	.	.	.	.	8.7708	0.34731	0.0:0.8283:0.0:0.1717	.	328;720	Q2YDW8;O94823	.;AT10B_HUMAN	D	720;328	ENSP00000313600:E720D;ENSP00000431081:E328D	.	E	-	3	2	ATP10B	159980188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.056000	0.41355	1.243000	0.43853	0.655000	0.94253	GAG		PASS	0.642	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		5	63	5	63	---	---	---	---
ZNF346	23567	broad.mit.edu	37	5	176477774	176477774	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr5:176477774G>C	ENST00000358149.3	+	5	583	c.540G>C	c.(538-540)atG>atC	p.M180I	ZNF346_ENST00000503425.1_Missense_Mutation_p.M148I|ZNF346-IT1_ENST00000515264.1_RNA|ZNF346_ENST00000506693.1_Missense_Mutation_p.M82I|ZNF346_ENST00000511834.1_Missense_Mutation_p.M196I|ZNF346_ENST00000503039.1_Missense_Mutation_p.M205I|ZNF346_ENST00000261948.4_Missense_Mutation_p.M205I|ZNF346_ENST00000512315.1_Intron	NM_012279.2	NP_036411.1	Q9UL40	ZN346_HUMAN	zinc finger protein 346	180					positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M180I(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	14	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	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)			ATAGAGAGATGATAGACCCAG	0.463																																						uc003mfi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)ATG>ATC		zinc finger protein 346							103.0	99.0	100.0					5																	176477774		2203	4300	6503	SO:0001583	missense	23567					cytoplasm|nucleolus	double-stranded RNA binding|zinc ion binding	g.chr5:176477774G>C	AF083340	CCDS4409.1	5q35.3	2012-10-05			ENSG00000113761	ENSG00000113761			16403	protein-coding gene	gene with protein product		605308				10488071	Standard	NM_012279		Approved	JAZ, Zfp346	uc003mfi.3	Q9UL40	OTTHUMG00000130848	ENST00000358149.3:c.540G>C	5.37:g.176477774G>C	ENSP00000350869:p.Met180Ile					ZNF346_uc011dfr.1_Missense_Mutation_p.M148I|ZNF346_uc011dfs.1_Missense_Mutation_p.M82I|ZNF346_uc003mfj.2_Intron|ZNF346_uc003mfk.1_Missense_Mutation_p.M205I|ZNF346_uc011dft.1_Intron	p.M180I	NM_012279	NP_036411	Q9UL40	ZN346_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	583	+	all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	180					B7Z367|Q68CV9|Q6ZMW1	Missense_Mutation	SNP	ENST00000358149.3	37	c.540G>C	CCDS4409.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276252	0.59649	.	.	ENSG00000113761	ENST00000358149;ENST00000506693;ENST00000503425;ENST00000261948;ENST00000511834;ENST00000503039	T;T;T;T;T;T	0.40225	1.04;1.04;1.04;1.04;1.04;1.04	5.32	4.44	0.53790	.	0.696064	0.15886	N	0.239788	T	0.25531	0.0621	N	0.11560	0.145	0.29704	N	0.839943	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.001	T	0.11036	-1.0604	10	0.22109	T	0.4	.	14.2809	0.66211	0.0:0.1487:0.8513:0.0	.	82;148;205;180	B7Z4J8;B7Z367;Q9UL40-2;Q9UL40	.;.;.;ZN346_HUMAN	I	180;82;148;205;196;205	ENSP00000350869:M180I;ENSP00000423515:M82I;ENSP00000421212:M148I;ENSP00000261948:M205I;ENSP00000425725:M196I;ENSP00000424495:M205I	ENSP00000261948:M205I	M	+	3	0	ZNF346	176410380	0.987000	0.35691	0.997000	0.53966	0.981000	0.71138	1.037000	0.30241	1.203000	0.43233	0.655000	0.94253	ATG		PASS	0.463	ZNF346-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253415.2	NM_012279		11	90	11	90	---	---	---	---
SERPINB6	5269	broad.mit.edu	37	6	2948803	2948803	+	Missense_Mutation	SNP	C	C	T	rs566604967		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:2948803C>T	ENST00000380520.1	-	6	2854	c.860G>A	c.(859-861)cGc>cAc	p.R287H	SERPINB6_ENST00000380546.3_Missense_Mutation_p.R287H|SERPINB6_ENST00000335686.5_Missense_Mutation_p.R287H|SERPINB6_ENST00000380539.1_Missense_Mutation_p.R287H|SERPINB6_ENST00000380529.1_Missense_Mutation_p.R287H|SERPINB6_ENST00000380524.1_Missense_Mutation_p.R287H			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	287					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R287H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GCCCAGGTTGCGCAGGACACT	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		21551	0.001		0.0	False		,,,				2504	0.0					uc003muk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(859-861)CGC>CAC		serine (or cysteine) proteinase inhibitor, clade	Drotrecogin alfa(DB00055)						172.0	160.0	164.0					6																	2948803		2203	4300	6503	SO:0001583	missense	5269				regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2948803C>T	Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.860G>A	6.37:g.2948803C>T	ENSP00000369891:p.Arg287His					SERPINB6_uc003mui.2_Missense_Mutation_p.R170H|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.R287H|SERPINB6_uc003mum.2_Missense_Mutation_p.R287H|SERPINB6_uc003mun.2_Missense_Mutation_p.R287H|SERPINB6_uc003muo.2_Missense_Mutation_p.R287H	p.R287H	NM_004568	NP_004559	P35237	SPB6_HUMAN			6	2855	-	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	287					B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	c.860G>A	CCDS4479.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.88|13.88	2.370574|2.370574	0.42003|0.42003	.|.	.|.	ENSG00000124570|ENSG00000124570	ENST00000380500|ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546;ENST00000440670	.|D;D;D;D;D;D	.|0.84660	.|-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.17|5.17	-2.93|-2.93	0.05598|0.05598	.|Serpin domain (3);	.|1.002860	.|0.08028	.|N	.|0.992966	T|T	0.56558|0.56558	0.1993|0.1993	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	.|B	.|0.18610	.|0.029	.|B	.|0.18561	.|0.022	T|T	0.36016|0.36016	-0.9765|-0.9765	5|10	.|0.21014	.|T	.|0.42	.|.	3.1933|3.1933	0.06624|0.06624	0.1051:0.4708:0.1031:0.321|0.1051:0.4708:0.1031:0.321	.|.	.|287	.|P35237	.|SPB6_HUMAN	T|H	92|287;287;287;287;287;287;103	.|ENSP00000369896:R287H;ENSP00000369891:R287H;ENSP00000338358:R287H;ENSP00000369901:R287H;ENSP00000369912:R287H;ENSP00000369919:R287H	.|ENSP00000338358:R287H	A|R	-|-	1|2	0|0	SERPINB6|SERPINB6	2893802|2893802	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-1.505000|-1.505000	0.02273|0.02273	-0.343000|-0.343000	0.08351|0.08351	0.558000|0.558000	0.71614|0.71614	GCA|CGC		PASS	0.537	SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1			10	207	10	207	---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16130818	16130818	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:16130818G>A	ENST00000356840.3	+	2	316	c.118G>A	c.(118-120)Gac>Aac	p.D40N	MYLIP_ENST00000349606.4_Intron	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	40	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D40N(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CATAGAAGTTGACTATTTTGG	0.478																																						uc003nbq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(118-120)GAC>AAC		myosin regulatory light chain interacting							129.0	135.0	133.0					6																	16130818		2203	4300	6503	SO:0001583	missense	29116				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:16130818G>A	AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.118G>A	6.37:g.16130818G>A	ENSP00000349298:p.Asp40Asn					MYLIP_uc003nbr.2_Intron	p.D40N	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Epithelial(50;0.241)		2	355	+	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	40			FERM.		Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	c.118G>A	CCDS4536.1	.	.	.	.	.	.	.	.	.	.	G	36	5.855392	0.97030	.	.	ENSG00000007944	ENST00000356840	T	0.78924	-1.22	5.87	5.87	0.94306	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.91737	0.7387	H	0.95043	3.615	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.93194	0.6586	10	0.87932	D	0	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	40	Q8WY64	MYLIP_HUMAN	N	40	ENSP00000349298:D40N	ENSP00000349298:D40N	D	+	1	0	MYLIP	16238797	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.809000	0.99208	2.780000	0.95670	0.655000	0.94253	GAC		PASS	0.478	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		9	148	9	148	---	---	---	---
FAM65B	9750	broad.mit.edu	37	6	24865603	24865603	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:24865603C>T	ENST00000259698.4	-	7	665	c.490G>A	c.(490-492)Gca>Aca	p.A164T	FAM65B_ENST00000538035.1_Missense_Mutation_p.A193T|FAM65B_ENST00000378023.4_Missense_Mutation_p.A164T|FAM65B_ENST00000540914.1_Missense_Mutation_p.A164T|FAM65B_ENST00000510784.2_Missense_Mutation_p.A198T	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	164					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)		p.A164T(2)|p.A164P(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						GGGGATGTTGCGAAGGCTTGC	0.493																																						uc003neo.1																			4	Substitution - Missense(4)		lung(2)|endometrium(2)	ovary(1)	1						c.(490-492)GCA>ACA		hypothetical protein LOC9750 isoform 1							82.0	79.0	80.0					6																	24865603		1924	4134	6058	SO:0001583	missense	9750				cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding	g.chr6:24865603C>T	U49187	CCDS47383.1, CCDS47384.1, CCDS69057.1, CCDS69058.1, CCDS75410.1	6p22.3-p21.32	2012-11-30	2008-06-13	2008-06-13	ENSG00000111913	ENSG00000111913			13872	protein-coding gene	gene with protein product	"""myogenesis-related and NCAM-associated protein homolog (chicken)"""	611410	"""chromosome 6 open reading frame 32"""	C6orf32		9205841, 17150207, 17825087	Standard	NM_001286447		Approved	KIAA0386, DIFF48, MYONAP	uc003neo.1	Q9Y4F9	OTTHUMG00000014375	ENST00000259698.4:c.490G>A	6.37:g.24865603C>T	ENSP00000259698:p.Ala164Thr					FAM65B_uc011djs.1_Missense_Mutation_p.A193T|FAM65B_uc011dju.1_Missense_Mutation_p.A198T|FAM65B_uc003nep.2_Missense_Mutation_p.A164T|FAM65B_uc011djt.1_Missense_Mutation_p.A164T	p.A164T	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN			7	666	-			164					A6NHP2|Q13529|Q5VV37|Q5VV38|Q9BQ28	Missense_Mutation	SNP	ENST00000259698.4	37	c.490G>A	CCDS47383.1	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281144	0.40394	.	.	ENSG00000111913	ENST00000259698;ENST00000538035;ENST00000378023;ENST00000540914;ENST00000510784	T;T;T;T;T	0.02158	4.42;4.42;4.42;4.42;4.42	5.72	4.86	0.63082	.	0.098854	0.64402	D	0.000001	T	0.00637	0.0021	N	0.04636	-0.2	0.44908	D	0.997928	B;D;B;P	0.54601	0.276;0.967;0.103;0.942	B;P;B;P	0.46629	0.061;0.462;0.034;0.522	T	0.59359	-0.7469	10	0.06494	T	0.89	-13.41	14.9184	0.70815	0.0:0.9314:0.0:0.0686	.	198;193;164;164	B7Z6U4;F5GX51;Q9Y4F9-2;Q9Y4F9	.;.;.;FA65B_HUMAN	T	164;193;164;164;198	ENSP00000259698:A164T;ENSP00000441138:A193T;ENSP00000367262:A164T;ENSP00000438425:A164T;ENSP00000441305:A198T	ENSP00000259698:A164T	A	-	1	0	FAM65B	24973582	0.988000	0.35896	0.258000	0.24420	0.325000	0.28411	2.268000	0.43338	1.413000	0.46997	0.655000	0.94253	GCA		PASS	0.493	FAM65B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040024.2			4	73	4	73	---	---	---	---
HIST1H2BI	8346	broad.mit.edu	37	6	26273483	26273483	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:26273483G>C	ENST00000377733.2	+	1	340	c.280G>C	c.(280-282)Gag>Cag	p.E94Q	HIST1H3G_ENST00000305910.3_5'Flank	NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E94Q(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CACTTCCAGGGAGATCCAAAC	0.592																																						uc003nhk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)GAG>CAG		histone cluster 1, H2bi							71.0	73.0	72.0					6																	26273483		2203	4300	6503	SO:0001583	missense	8346				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26273483G>C	Z80782	CCDS4603.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000168242	ENSG00000278588		"""Histones / Replication-dependent"""	4756	protein-coding gene	gene with protein product		602807	"""H2B histone family, member K"", ""histone 1, H2bi"""	H2BFK		9119399, 12408966	Standard	NM_003525		Approved	H2B/k	uc003nhk.3	P62807	OTTHUMG00000014448	ENST00000377733.2:c.280G>C	6.37:g.26273483G>C	ENSP00000366962:p.Glu94Gln					HIST1H3G_uc003nhi.2_5'Flank	p.E94Q	NM_003525	NP_003516	P62807	H2B1C_HUMAN			1	280	+			94					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000377733.2	37	c.280G>C	CCDS4603.1	.	.	.	.	.	.	.	.	.	.	.	25.9	4.687472	0.88639	.	.	ENSG00000168242	ENST00000377733	T	0.50001	0.76	4.36	4.36	0.52297	.	0.000000	0.41823	U	0.000809	T	0.79534	0.4462	H	0.99545	4.62	0.36797	D	0.885147	.	.	.	.	.	.	D	0.89516	0.3775	8	0.87932	D	0	.	15.4863	0.75571	0.0:0.0:1.0:0.0	.	.	.	.	Q	94	ENSP00000366962:E94Q	ENSP00000366962:E94Q	E	+	1	0	HIST1H2BI	26381462	1.000000	0.71417	0.967000	0.41034	0.875000	0.50365	7.631000	0.83237	1.975000	0.57531	0.563000	0.77884	GAG		PASS	0.592	HIST1H2BI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040111.1	NM_003525		3	127	3	127	---	---	---	---
MOG	4340	broad.mit.edu	37	6	29627140	29627140	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:29627140G>A	ENST00000376917.3	+	2	362	c.133G>A	c.(133-135)Gtc>Atc	p.V45I	MOG_ENST00000376898.3_Missense_Mutation_p.V45I|MOG_ENST00000494692.1_Missense_Mutation_p.V45I|MOG_ENST00000490427.1_Intron|MOG_ENST00000376902.3_Missense_Mutation_p.V45I|MOG_ENST00000483013.1_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.V45I|MOG_ENST00000396701.2_Missense_Mutation_p.V45I|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000376888.2_Intron|MOG_ENST00000431798.2_Missense_Mutation_p.V45I|MOG_ENST00000376891.4_Missense_Mutation_p.V45I|MOG_ENST00000533330.2_Missense_Mutation_p.V45I|MOG_ENST00000376894.4_Missense_Mutation_p.V45I|MOG_ENST00000416766.2_Missense_Mutation_p.V45I	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	45	Ig-like V-type.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V45I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						CCGGGCTCTGGTCGGGGATGA	0.547																																						uc003nnf.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(133-135)GTC>ATC		myelin oligodendrocyte glycoprotein isoform							209.0	227.0	220.0					6																	29627140		1511	2709	4220	SO:0001583	missense	4340				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		g.chr6:29627140G>A		CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.133G>A	6.37:g.29627140G>A	ENSP00000366115:p.Val45Ile					MOG_uc003qzk.1_Missense_Mutation_p.V45I|MOG_uc010kle.1_Intron|MOG_uc010klf.1_Intron|MOG_uc003nmy.1_Missense_Mutation_p.V45I|MOG_uc003nmz.2_Missense_Mutation_p.V45I|MOG_uc011dlt.1_5'UTR|MOG_uc003nna.2_Intron|MOG_uc011dlu.1_Intron|MOG_uc011dlv.1_Intron|MOG_uc003nnd.2_Missense_Mutation_p.V45I|MOG_uc003nne.2_Missense_Mutation_p.V45I|MOG_uc003nng.2_Missense_Mutation_p.V45I|MOG_uc003nnh.2_Missense_Mutation_p.V45I|MOG_uc003nni.2_Missense_Mutation_p.V45I|MOG_uc003nnj.2_Missense_Mutation_p.V45I|MOG_uc003nnk.2_Missense_Mutation_p.V45I	p.V45I	NM_206809	NP_996532	Q16653	MOG_HUMAN			2	311	+			45			Ig-like V-type.|Extracellular (Potential).		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	ENST00000376917.3	37	c.133G>A	CCDS34370.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.294344	0.23564	.	.	ENSG00000204655	ENST00000376917;ENST00000376902;ENST00000533330;ENST00000376894;ENST00000416766;ENST00000376891;ENST00000376898;ENST00000431798;ENST00000396701;ENST00000494692;ENST00000396704	T;T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.87	4.08	0.47627	Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.119843	0.37623	N	0.002015	T	0.47097	0.1427	M	0.74389	2.26	0.24776	N	0.992847	B;B;B;B;B;B;B;B;B;B	0.24651	0.006;0.01;0.01;0.007;0.041;0.108;0.015;0.003;0.029;0.026	B;B;B;B;B;B;B;B;B;B	0.18263	0.008;0.011;0.007;0.021;0.01;0.018;0.016;0.005;0.009;0.016	T	0.51474	-0.8701	10	0.72032	D	0.01	.	9.687	0.40105	0.0773:0.1424:0.7803:0.0	.	45;45;45;45;45;45;45;45;45;45	C9JTE0;F8W9D5;Q16653-2;Q16653-3;Q16653-6;Q16653-7;Q16653;Q16653-5;Q16653-10;Q5SUK5	.;.;.;.;.;.;MOG_HUMAN;.;.;.	I	45	ENSP00000366115:V45I;ENSP00000366100:V45I;ENSP00000431709:V45I;ENSP00000366091:V45I;ENSP00000409394:V45I;ENSP00000366088:V45I;ENSP00000366095:V45I;ENSP00000410866:V45I;ENSP00000379929:V45I;ENSP00000417405:V45I;ENSP00000379932:V45I	ENSP00000366088:V45I	V	+	1	0	MOG	29735119	0.973000	0.33851	0.553000	0.28255	0.281000	0.26958	2.185000	0.42584	0.808000	0.34231	0.655000	0.94253	GTC		PASS	0.547	MOG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076160.3	NM_002433		70	189	70	189	---	---	---	---
VWA7	80737	broad.mit.edu	37	6	31733830	31733830	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:31733830G>A	ENST00000375688.4	-	16	2529	c.2329C>T	c.(2329-2331)Cac>Tac	p.H777Y	SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000375686.3_Missense_Mutation_p.H777Y			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	777						extracellular region (GO:0005576)		p.H777Y(1)									AGTTCCAGGTGAGCCCTGGAG	0.647																																						uc011dog.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2329-2331)CAC>TAC		G7c protein precursor							90.0	116.0	106.0					6																	31733830		1510	2708	4218	SO:0001583	missense	80737					extracellular region		g.chr6:31733830G>A		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2329C>T	6.37:g.31733830G>A	ENSP00000364840:p.His777Tyr						p.H777Y	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			16	2567	-			777					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.2329C>T	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	7.208	0.594810	0.13875	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	T;T	0.14516	2.72;2.5	4.75	3.81	0.43845	.	1.518920	0.03615	N	0.235496	T	0.03053	0.0090	N	0.19112	0.55	0.80722	D	1	B	0.19817	0.039	B	0.20384	0.029	T	0.48328	-0.9045	10	0.02654	T	1	-0.0497	9.6812	0.40072	0.0:0.0:0.7928:0.2071	.	777	Q9Y334	G7C_HUMAN	Y	777	ENSP00000364840:H777Y;ENSP00000364838:H777Y	ENSP00000364838:H777Y	H	-	1	0	C6orf27	31841809	0.952000	0.32445	0.883000	0.34634	0.050000	0.14768	1.875000	0.39578	2.630000	0.89119	0.563000	0.77884	CAC		PASS	0.647	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		10	126	10	126	---	---	---	---
HSPA1L	3305	broad.mit.edu	37	6	31778604	31778604	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:31778604C>G	ENST00000375654.4	-	2	1335	c.1146G>C	c.(1144-1146)ctG>ctC	p.L382L	HSPA1L_ENST00000417199.3_Silent_p.L382L	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	382					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.L382L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCCCCCATCAGGATGGCTG	0.597																																						uc003nxh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pleura(1)|kidney(1)|skin(1)	6						c.(1144-1146)CTG>CTC		heat shock 70kDa protein 1-like							79.0	69.0	73.0					6																	31778604		2203	4300	6503	SO:0001819	synonymous_variant	3305				response to unfolded protein		ATP binding	g.chr6:31778604C>G	D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.1146G>C	6.37:g.31778604C>G						HSPA1L_uc010jte.2_Silent_p.L382L	p.L382L	NM_005527	NP_005518	P34931	HS71L_HUMAN			2	1329	-			382					A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Silent	SNP	ENST00000375654.4	37	c.1146G>C	CCDS34413.1																																																																																				PASS	0.597	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2			4	101	4	101	---	---	---	---
SLC39A7	7922	broad.mit.edu	37	6	33169260	33169260	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:33169260G>C	ENST00000374677.3	+	1	611	c.238G>C	c.(238-240)Gac>Cac	p.D80H	RNY4P10_ENST00000365571.1_RNA|RXRB_ENST00000374680.3_5'Flank|SLC39A7_ENST00000374675.3_Missense_Mutation_p.D80H|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000544186.1_5'Flank|RXRB_ENST00000374685.4_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	80	His-rich.				transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)	p.D80H(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CCACGATCACGACCATGGACA	0.537																																						uc003odf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(238-240)GAC>CAC		solute carrier family 39, member 7							125.0	125.0	125.0					6																	33169260		2112	4238	6350	SO:0001583	missense	7922					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity	g.chr6:33169260G>C	AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.238G>C	6.37:g.33169260G>C	ENSP00000363809:p.Asp80His					RXRB_uc003odb.2_5'Flank|RXRB_uc003odc.2_5'Flank|RXRB_uc003odd.2_5'Flank|RXRB_uc011dqr.1_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc003ode.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.2_Missense_Mutation_p.D80H|SLC39A7_uc011dqv.1_Intron|SLC39A7_uc003odh.2_5'Flank	p.D80H	NM_001077516	NP_001070984	Q92504	S39A7_HUMAN			2	355	+			80			His-rich.		B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	ENST00000374677.3	37	c.238G>C	CCDS43453.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912266	0.33721	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000374677	T;T	0.61980	0.06;0.06	4.75	4.75	0.60458	.	2.119410	0.02303	N	0.071342	T	0.34658	0.0905	N	0.12182	0.205	0.49483	D	0.99979	P	0.45283	0.855	B	0.38712	0.28	T	0.14062	-1.0486	10	0.46703	T	0.11	-20.0465	13.1907	0.59709	0.0:0.0:1.0:0.0	.	80	Q92504	S39A7_HUMAN	H	80;61;80	ENSP00000363807:D80H;ENSP00000363809:D80H	ENSP00000363807:D80H	D	+	1	0	SLC39A7	33277238	0.995000	0.38212	1.000000	0.80357	0.749000	0.42624	2.901000	0.48695	2.507000	0.84556	0.289000	0.19496	GAC		PASS	0.537	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076499.2	NM_006979		3	128	3	128	---	---	---	---
ETV7	51513	broad.mit.edu	37	6	36336811	36336811	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:36336811G>A	ENST00000340181.4	-	6	943	c.702C>T	c.(700-702)ctC>ctT	p.L234L	ETV7_ENST00000373738.1_Silent_p.L179L|ETV7_ENST00000339796.5_Silent_p.L234L|ETV7_ENST00000373737.4_Silent_p.L157L|ETV7_ENST00000538992.1_Silent_p.L83L	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	234					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L234L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GGGTATCAAGGAGCAGCTGAT	0.537																																						uc003omb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(700-702)CTC>CTT		ets variant 7							138.0	122.0	127.0					6																	36336811		2203	4300	6503	SO:0001819	synonymous_variant	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36336811G>A	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.702C>T	6.37:g.36336811G>A						ETV7_uc003olz.1_Silent_p.L234L|ETV7_uc003oma.1_Silent_p.L179L|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Silent_p.L179L|ETV7_uc010jwj.2_Silent_p.L175L|ETV7_uc010jwh.2_Silent_p.L153L|ETV7_uc010jwi.2_Silent_p.L157L|ETV7_uc011dtl.1_Silent_p.L83L	p.L234L	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN			6	851	-			234			ETS.		B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Silent	SNP	ENST00000340181.4	37	c.702C>T	CCDS4819.1																																																																																				PASS	0.537	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		5	109	5	109	---	---	---	---
TJAP1	93643	broad.mit.edu	37	6	43472651	43472651	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:43472651C>G	ENST00000372445.5	+	11	1108	c.732C>G	c.(730-732)ctC>ctG	p.L244L	TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000436109.2_Silent_p.L234L|TJAP1_ENST00000372452.1_Silent_p.L234L|TJAP1_ENST00000259751.1_Silent_p.L234L|TJAP1_ENST00000438588.2_Silent_p.L244L|TJAP1_ENST00000372449.1_Silent_p.L244L|TJAP1_ENST00000372444.2_Silent_p.L234L	NM_001146016.1	NP_001139488.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	244					Golgi organization (GO:0007030)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)		p.L234L(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTCTACTGCTCAATTCAGCCC	0.632																																						uc003ovd.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)CTC>CTG		tight junction associated protein 1 isoform a							88.0	89.0	89.0					6																	43472651		2203	4300	6503	SO:0001819	synonymous_variant	93643					Golgi apparatus|tight junction	protein binding	g.chr6:43472651C>G	AK024269	CCDS4898.1, CCDS55004.1	6p21.1	2008-02-05	2005-07-05	2005-07-05	ENSG00000137221	ENSG00000137221			17949	protein-coding gene	gene with protein product		612658	"""tight junction protein 4 (peripheral)"""	TJP4		11602598	Standard	NM_001146016		Approved	PILT	uc011dvh.1	Q5JTD0	OTTHUMG00000014736	ENST00000372445.5:c.732C>G	6.37:g.43472651C>G						TJAP1_uc003ovf.2_Silent_p.L234L|TJAP1_uc003ove.2_Silent_p.L234L|TJAP1_uc003ovc.2_Silent_p.L234L|TJAP1_uc010jyp.2_Silent_p.L203L|TJAP1_uc011dvh.1_Silent_p.L234L|TJAP1_uc003ovg.2_Silent_p.L110L|TJAP1_uc011dvi.1_Silent_p.L244L|TJAP1_uc011dvj.1_Silent_p.L44L|TJAP1_uc003ovi.2_Silent_p.L110L	p.L244L	NM_001146016	NP_001139488	Q5JTD0	TJAP1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		11	1108	+	all_lung(25;0.00536)		244					Q05BH9|Q5JTD1|Q5JWW1|Q68DB2|Q6P2P3|Q9H7V7	Silent	SNP	ENST00000372445.5	37	c.732C>G	CCDS55004.1																																																																																				PASS	0.632	TJAP1-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040629.1	NM_080604		6	152	6	152	---	---	---	---
MUT	4594	broad.mit.edu	37	6	49416531	49416531	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:49416531G>C	ENST00000274813.3	-	7	1569	c.1442C>G	c.(1441-1443)tCt>tGt	p.S481C		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	481					cellular lipid metabolic process (GO:0044255)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|homocysteine metabolic process (GO:0050667)|post-embryonic development (GO:0009791)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)|methylmalonyl-CoA mutase activity (GO:0004494)|modified amino acid binding (GO:0072341)	p.S481C(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATCTTACCAGAATCTATTCT	0.333																																						uc003ozg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1441-1443)TCT>TGT		methylmalonyl Coenzyme A mutase precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						106.0	105.0	105.0					6																	49416531		2203	4300	6503	SO:0001583	missense	4594				fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity	g.chr6:49416531G>C		CCDS4924.1	6p21	2012-10-02	2010-04-30		ENSG00000146085	ENSG00000146085	5.4.99.2		7526	protein-coding gene	gene with protein product		609058	"""methylmalonyl Coenzyme A mutase"""			2907507, 9503014	Standard	NM_000255		Approved		uc003ozg.4	P22033	OTTHUMG00000014814	ENST00000274813.3:c.1442C>G	6.37:g.49416531G>C	ENSP00000274813:p.Ser481Cys						p.S481C	NM_000255	NP_000246	P22033	MUTA_HUMAN			7	1697	-	Lung NSC(77;0.0376)		481					A8K953|Q5SYZ3|Q96B11|Q9UD64	Missense_Mutation	SNP	ENST00000274813.3	37	c.1442C>G	CCDS4924.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.686154	0.68157	.	.	ENSG00000146085	ENST00000274813	D	0.98567	-5.0	5.47	5.47	0.80525	Cobalamin (vitamin B12)-dependent enzyme, catalytic (1);Cobalamin (vitamin B12)-dependent enzyme, catalytic subdomain (1);Methylmalonyl-CoA mutase, alpha/beta chain, catalytic (1);Methylmalonyl-CoA mutase, alpha chain, catalytic (1);	0.000000	0.85682	D	0.000000	D	0.98852	0.9612	H	0.96048	3.76	0.80722	D	1	B	0.33904	0.431	B	0.43575	0.424	D	0.99914	1.1215	10	0.87932	D	0	-11.8083	18.6706	0.91510	0.0:0.0:1.0:0.0	.	481	P22033	MUTA_HUMAN	C	481	ENSP00000274813:S481C	ENSP00000274813:S481C	S	-	2	0	MUT	49524490	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.420000	0.97426	2.720000	0.93068	0.650000	0.86243	TCT		PASS	0.333	MUT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040854.1			4	169	4	169	---	---	---	---
CRISP3	10321	broad.mit.edu	37	6	49704215	49704215	+	Silent	SNP	G	G	T	rs267601064		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:49704215G>T	ENST00000393666.1	-	2	84	c.78C>A	c.(76-78)ccC>ccA	p.P26P	CRISP3_ENST00000371159.4_Silent_p.P57P|CRISP3_ENST00000263045.4_Silent_p.P39P|CRISP3_ENST00000433368.2_Silent_p.P49P|CRISP3_ENST00000423399.2_Intron			P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	26					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.P26P(2)		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)			CAGTAAAAGCGGGATCCTAAG	0.368																																						uc003ozs.2																			2	Substitution - coding silent(2)	p.P26P(1)	lung(1)|skin(1)	skin(2)	2						c.(76-78)CCC>CCA		cysteine-rich secretory protein 3 precursor							159.0	154.0	156.0					6																	49704215		2203	4300	6503	SO:0001819	synonymous_variant	10321				innate immune response	proteinaceous extracellular matrix|specific granule		g.chr6:49704215G>T	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.78C>A	6.37:g.49704215G>T							p.P26P	NM_006061	NP_006052	P54108	CRIS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)		3	93	-	Lung NSC(77;0.0161)		26					A8K9S1|B2R8I8|Q15512|Q3MJ82|Q53FA9|Q5JW83|Q9H108	Silent	SNP	ENST00000393666.1	37	c.78C>A																																																																																					PASS	0.368	CRISP3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006061		39	192	39	192	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51890607	51890607	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:51890607A>G	ENST00000371117.3	-	32	4276	c.4001T>C	c.(4000-4002)cTg>cCg	p.L1334P	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1334P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1334	IPT/TIG 8; atypical.				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.L1334P(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCACAGTTCAGGTTCCCCAG	0.527																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(4000-4002)CTG>CCG		fibrocystin isoform 1							116.0	103.0	107.0					6																	51890607		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51890607A>G	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.4001T>C	6.37:g.51890607A>G	ENSP00000360158:p.Leu1334Pro					PKHD1_uc003pai.2_Missense_Mutation_p.L1334P	p.L1334P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	4277	-	Lung NSC(77;0.0605)		1334			IPT/TIG 8; atypical.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.4001T>C	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060482	0.36373	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.88046	-2.13;-2.33	5.87	1.9	0.25705	.	0.876264	0.09792	N	0.755282	T	0.72277	0.3440	L	0.54323	1.7	0.18873	N	0.999989	P;P	0.49559	0.925;0.877	P;B	0.45610	0.487;0.293	T	0.63506	-0.6622	10	0.39692	T	0.17	.	1.4304	0.02332	0.5161:0.1196:0.1337:0.2306	.	1334;1334	P08F94-2;P08F94	.;PKHD1_HUMAN	P	1334	ENSP00000360158:L1334P;ENSP00000341097:L1334P	ENSP00000341097:L1334P	L	-	2	0	PKHD1	51998566	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	0.167000	0.16602	0.444000	0.26612	0.533000	0.62120	CTG		PASS	0.527	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		3	113	3	113	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51900492	51900492	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:51900492G>A	ENST00000371117.3	-	28	3400	c.3125C>T	c.(3124-3126)tCt>tTt	p.S1042F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1042F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1042	IPT/TIG 5.				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.S1042F(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCCAAACTAGAGCCTCGGAT	0.433																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(3124-3126)TCT>TTT		fibrocystin isoform 1							95.0	91.0	92.0					6																	51900492		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51900492G>A	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.3125C>T	6.37:g.51900492G>A	ENSP00000360158:p.Ser1042Phe					PKHD1_uc003pai.2_Missense_Mutation_p.S1042F	p.S1042F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			28	3401	-	Lung NSC(77;0.0605)		1042			IPT/TIG 5.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.3125C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.518668	0.64634	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.78481	-1.18;-1.18	5.57	4.7	0.59300	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.227238	0.38436	N	0.001694	T	0.69584	0.3127	L	0.57536	1.79	0.22479	N	0.999061	D;D	0.67145	0.985;0.996	P;P	0.59115	0.693;0.852	T	0.62835	-0.6770	10	0.08837	T	0.75	.	11.8058	0.52155	0.0809:0.0:0.9191:0.0	.	1042;1042	P08F94-2;P08F94	.;PKHD1_HUMAN	F	1042	ENSP00000360158:S1042F;ENSP00000341097:S1042F	ENSP00000341097:S1042F	S	-	2	0	PKHD1	52008451	0.989000	0.36119	0.761000	0.31378	0.904000	0.53231	2.739000	0.47409	1.368000	0.46115	0.650000	0.86243	TCT		PASS	0.433	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		11	142	11	142	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79655828	79655828	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:79655828C>T	ENST00000275034.4	-	38	4687	c.4520G>A	c.(4519-4521)aGa>aAa	p.R1507K	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1507					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.R1507K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCGGTTGCTTCTGGTTCGAAC	0.428																																						uc003pir.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(4519-4521)AGA>AAA		pleckstrin homology domain interacting protein							178.0	152.0	161.0					6																	79655828		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655828C>T	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4520G>A	6.37:g.79655828C>T	ENSP00000275034:p.Arg1507Lys					PHIP_uc003piq.2_Missense_Mutation_p.R531K|PHIP_uc011dyp.1_Missense_Mutation_p.R1506K|IRAK1BP1_uc010kbg.1_RNA|PHIP_uc003pio.3_Missense_Mutation_p.R393K	p.R1507K	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4746	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1507					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.4520G>A	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.456672	0.84317	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.47528	0.84	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.49779	0.1577	L	0.32530	0.975	0.80722	D	1	P;P	0.52842	0.956;0.956	D;D	0.65010	0.931;0.931	T	0.28554	-1.0040	9	.	.	.	-22.1789	19.4101	0.94667	0.0:1.0:0.0:0.0	.	1507;1507	A7J992;Q8WWQ0	.;PHIP_HUMAN	K	1507;233	ENSP00000275034:R1507K	.	R	-	2	0	PHIP	79712547	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.322000	0.65852	2.832000	0.97577	0.655000	0.94253	AGA		PASS	0.428	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			4	92	4	92	---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85446684	85446684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:85446684G>A	ENST00000369663.5	-	8	1880	c.1543C>T	c.(1543-1545)Cag>Tag	p.Q515*	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	515					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.Q515*(1)|p.Q515E(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		TAGGAACCCTGATGGGTCTGG	0.483																																						uc003pkl.1																			2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(2)|pancreas(2)|lung(1)	5						c.(1543-1545)CAG>TAG		T-box 18							131.0	145.0	140.0					6																	85446684		2203	4300	6503	SO:0001587	stop_gained	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446684G>A	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1543C>T	6.37:g.85446684G>A	ENSP00000358677:p.Gln515*					TBX18_uc010kbq.1_Intron	p.Q515*	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	8	1543	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	515					A2RU13|Q7Z6U4|Q9UJI6	Nonsense_Mutation	SNP	ENST00000369663.5	37	c.1543C>T	CCDS34495.1	.	.	.	.	.	.	.	.	.	.	G	35	5.575576	0.96553	.	.	ENSG00000112837	ENST00000369663	.	.	.	5.26	5.26	0.73747	.	0.335943	0.35739	N	0.003006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.8443	0.92198	0.0:0.0:1.0:0.0	.	.	.	.	X	515	.	ENSP00000358677:Q515X	Q	-	1	0	TBX18	85503403	1.000000	0.71417	0.997000	0.53966	0.162000	0.22319	9.044000	0.93805	2.453000	0.82957	0.585000	0.79938	CAG		PASS	0.483	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508		15	247	15	247	---	---	---	---
FAM162B	221303	broad.mit.edu	37	6	117086374	117086374	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:117086374C>A	ENST00000368557.4	-	2	363	c.217G>T	c.(217-219)Gac>Tac	p.D73Y		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	73						integral component of membrane (GO:0016021)		p.D73Y(1)		large_intestine(2)|lung(4)	6						ATTTTCTTGTCGAACTGCGAA	0.617																																						uc003pxi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(217-219)GAC>TAC		hypothetical protein LOC221303							56.0	62.0	60.0					6																	117086374		2165	4280	6445	SO:0001583	missense	221303					integral to membrane		g.chr6:117086374C>A	BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 189"""	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.217G>T	6.37:g.117086374C>A	ENSP00000357545:p.Asp73Tyr						p.D73Y	NM_001085480	NP_001078949	Q5T6X4	F162B_HUMAN			2	364	-			73					Q8IXW8	Missense_Mutation	SNP	ENST00000368557.4	37	c.217G>T	CCDS43497.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868787	0.51588	.	.	ENSG00000183807	ENST00000368557	T	0.36340	1.26	3.65	3.65	0.41850	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	M	0.73962	2.25	0.51767	D	0.999937	D	0.89917	1.0	D	0.91635	0.999	T	0.56974	-0.7890	10	0.87932	D	0	-19.1042	13.6119	0.62083	0.0:1.0:0.0:0.0	.	73	Q5T6X4	F162B_HUMAN	Y	73	ENSP00000357545:D73Y	ENSP00000357545:D73Y	D	-	1	0	FAM162B	117193067	1.000000	0.71417	0.998000	0.56505	0.238000	0.25445	3.226000	0.51254	2.337000	0.79520	0.561000	0.74099	GAC		PASS	0.617	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041965.1	XM_927381		6	56	6	56	---	---	---	---
MCM9	254394	broad.mit.edu	37	6	119243248	119243248	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:119243248G>T	ENST00000316316.6	-	4	911	c.625C>A	c.(625-627)Caa>Aaa	p.Q209K	MCM9_ENST00000316068.3_Missense_Mutation_p.Q209K	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	209					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q209K(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		GATAGCCTTTGAACCTAGCAA	0.338																																						uc003pyh.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(625-627)CAA>AAA		minichromosome maintenance complex component 9							132.0	126.0	128.0					6																	119243248		2203	4300	6503	SO:0001583	missense	254394				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr6:119243248G>T	BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.625C>A	6.37:g.119243248G>T	ENSP00000314505:p.Gln209Lys						p.Q209K	NM_153255	NP_694987	Q9NXL9	MCM9_HUMAN		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)	4	888	-		all_cancers(87;0.122)|all_epithelial(87;0.179)	209					B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Missense_Mutation	SNP	ENST00000316316.6	37	c.625C>A	CCDS56447.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957767	0.73902	.	.	ENSG00000111877	ENST00000316316;ENST00000316068	T;T	0.04156	3.69;3.69	5.58	5.58	0.84498	.	.	.	.	.	T	0.03095	0.0091	L	0.45137	1.4	0.80722	D	1	P	0.40083	0.702	B	0.37650	0.255	T	0.57631	-0.7778	9	0.21014	T	0.42	.	19.922	0.97089	0.0:0.0:1.0:0.0	.	209	Q9NXL9-2	.	K	209	ENSP00000314505:Q209K;ENSP00000312870:Q209K	ENSP00000312870:Q209K	Q	-	1	0	MCM9	119284947	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	8.959000	0.93110	2.780000	0.95670	0.655000	0.94253	CAA		PASS	0.338	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255		9	140	9	140	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127837647	127837647	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:127837647C>T	ENST00000525778.1	-	2	858	c.113G>A	c.(112-114)cGa>cAa	p.R38Q	SOGA3_ENST00000465909.2_Missense_Mutation_p.R38Q|SOGA3_ENST00000481848.2_Missense_Mutation_p.R38Q|SOGA3_ENST00000368268.2_Missense_Mutation_p.R38Q|SOGA3_ENST00000556132.1_Missense_Mutation_p.R38Q			Q5TF21	SOGA3_HUMAN	SOGA family member 3	38					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R38Q(1)									TGACTGAGCTCGCTGCTGCTT	0.667																																						uc003qbd.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(112-114)CGA>CAA		hypothetical protein LOC387104 precursor							20.0	24.0	22.0					6																	127837647		2056	4212	6268	SO:0001583	missense	387104					integral to membrane		g.chr6:127837647C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.113G>A	6.37:g.127837647C>T	ENSP00000434570:p.Arg38Gln						p.R38Q	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	2	978	-			38						Missense_Mutation	SNP	ENST00000525778.1	37	c.113G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981311	0.74474	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.79	5.79	0.91817	.	0.000000	0.56097	D	0.000031	T	0.43656	0.1257	N	0.19112	0.55	0.40482	D	0.980458	D	0.69078	0.997	D	0.70227	0.968	T	0.50338	-0.8840	10	0.87932	D	0	-4.0961	18.7927	0.91980	0.0:1.0:0.0:0.0	.	38	Q5TF21	CF174_HUMAN	Q	38	ENSP00000451768:R38Q;ENSP00000357251:R38Q;ENSP00000434570:R38Q;ENSP00000435559:R38Q	ENSP00000435559:R38Q	R	-	2	0	C6orf174	127879340	0.973000	0.33851	1.000000	0.80357	0.646000	0.38490	2.720000	0.47252	2.735000	0.93741	0.561000	0.74099	CGA		PASS	0.667	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		6	40	6	40	---	---	---	---
TMEM244	253582	broad.mit.edu	37	6	130164698	130164698	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:130164698G>A	ENST00000368143.1	-	3	252	c.170C>T	c.(169-171)tCa>tTa	p.S57L	TMEM244_ENST00000438392.1_Missense_Mutation_p.S57L	NM_001010876.1	NP_001010876.1	Q5VVB8	TM244_HUMAN	transmembrane protein 244	57						integral component of membrane (GO:0016021)		p.S57L(1)									GTTGAGCCATGAGGGATTTGT	0.299																																						uc003qbs.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(169-171)TCA>TTA		hypothetical protein LOC253582							90.0	99.0	96.0					6																	130164698		2203	4300	6503	SO:0001583	missense	253582					integral to membrane		g.chr6:130164698G>A		CCDS34536.1	6q22.33	2012-02-21	2012-02-21	2012-02-21	ENSG00000203756	ENSG00000203756			21571	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 191"""	C6orf191			Standard	NM_001010876		Approved	bA174C7.4	uc003qbs.3	Q5VVB8	OTTHUMG00000015553	ENST00000368143.1:c.170C>T	6.37:g.130164698G>A	ENSP00000357125:p.Ser57Leu						p.S57L	NM_001010876	NP_001010876	Q5VVB8	CF191_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131)	3	253	-			57						Missense_Mutation	SNP	ENST00000368143.1	37	c.170C>T	CCDS34536.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.858959	0.32884	.	.	ENSG00000203756	ENST00000368143;ENST00000438392	T;T	0.38077	1.16;1.16	5.01	4.14	0.48551	.	0.182360	0.38111	N	0.001809	T	0.19167	0.0460	L	0.55481	1.735	0.33203	D	0.552352	B	0.16802	0.019	B	0.16289	0.015	T	0.11470	-1.0586	10	0.66056	D	0.02	-18.1225	12.4518	0.55681	0.0839:0.0:0.9161:0.0	.	57	Q5VVB8	CF191_HUMAN	L	57	ENSP00000357125:S57L;ENSP00000403755:S57L	ENSP00000357125:S57L	S	-	2	0	C6orf191	130206391	1.000000	0.71417	0.847000	0.33407	0.277000	0.26821	3.044000	0.49830	1.120000	0.41904	0.585000	0.79938	TCA		PASS	0.299	TMEM244-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042194.1	NM_001010876		17	147	17	147	---	---	---	---
PDCD2	5134	broad.mit.edu	37	6	170892684	170892684	+	Silent	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr6:170892684C>A	ENST00000541970.1	-	2	513	c.435G>T	c.(433-435)acG>acT	p.T145T	PDCD2_ENST00000537445.1_Silent_p.T112T|PDCD2_ENST00000542896.1_Silent_p.T145T|PDCD2_ENST00000453163.2_Silent_p.T145T|PDCD2_ENST00000392090.2_Silent_p.T112T|PDCD2_ENST00000443345.2_Silent_p.T112T	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	145					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)	p.T145T(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		ATCTGGAGCACGTTTTGGGGC	0.507																																					Colon(60;1476 1726 39478)	uc003qxw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(433-435)ACG>ACT		programmed cell death 2 isoform 1							75.0	71.0	72.0					6																	170892684		2203	4300	6503	SO:0001819	synonymous_variant	5134				apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:170892684C>A	AJ420535	CCDS5316.1, CCDS47521.1, CCDS56460.1, CCDS56461.1, CCDS56462.1, CCDS75557.1	6q27	2008-02-05			ENSG00000071994	ENSG00000071994		"""Zinc fingers, MYND-type"""	8762	protein-coding gene	gene with protein product		600866				7606924	Standard	NM_002598		Approved	ZMYND7, RP8	uc003qxw.3	Q16342	OTTHUMG00000016083	ENST00000541970.1:c.435G>T	6.37:g.170892684C>A						PDCD2_uc003qxv.2_Silent_p.T112T|PDCD2_uc003qxx.1_Silent_p.T145T|PDCD2_uc003qxy.2_Silent_p.T112T|PDCD2_uc003qxz.2_Silent_p.T145T|PDCD2_uc003qya.2_Silent_p.T112T|PDCD2_uc003qyb.1_Silent_p.T68T	p.T145T	NM_002598	NP_002589	Q16342	PDCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)	2	514	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	145			MYND-type.		E9PCU7|F5GYS7|Q58HM9|Q58HN0|Q9UH12	Silent	SNP	ENST00000541970.1	37	c.435G>T	CCDS5316.1																																																																																				PASS	0.507	PDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043269.2	NM_002598		3	83	3	83	---	---	---	---
ACTB	60	broad.mit.edu	37	7	5567445	5567445	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:5567445C>G	ENST00000331789.5	-	6	1253	c.1062G>C	c.(1060-1062)caG>caC	p.Q354H	AC006483.1_ENST00000579427.1_RNA|ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	354					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)	p.Q354H(1)		NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TGATCCACATCTGCTGGAAGG	0.577																																						uc003sos.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1060-1062)CAG>CAC		beta actin							97.0	100.0	99.0					7																	5567445		2203	4298	6501	SO:0001583	missense	60				'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton	g.chr7:5567445C>G	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1062G>C	7.37:g.5567445C>G	ENSP00000349960:p.Gln354His					ACTB_uc003sor.3_Missense_Mutation_p.Q232H|ACTB_uc003sot.3_Missense_Mutation_p.Q354H|ACTB_uc003soq.3_Missense_Mutation_p.Q232H|ACTB_uc010ksy.2_Missense_Mutation_p.Q232H	p.Q354H	NM_001101	NP_001092	P60709	ACTB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)	5	1098	-		Ovarian(82;0.0606)	354					A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	ENST00000331789.5	37	c.1062G>C	CCDS5341.1	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917208	0.33815	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95035	-3.59	5.55	2.75	0.32379	.	0.000000	0.56097	D	0.000032	D	0.95698	0.8601	M	0.80332	2.49	0.42852	D	0.994083	B	0.17667	0.023	P	0.45119	0.47	D	0.92962	0.6390	10	0.87932	D	0	.	7.7833	0.29077	0.1321:0.727:0.0:0.1409	.	354	P60709	ACTB_HUMAN	H	354;330;326;273	ENSP00000349960:Q354H	ENSP00000440549:Q273H	Q	-	3	2	ACTB	5533971	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.731000	0.62022	0.297000	0.22615	0.650000	0.86243	CAG		PASS	0.577	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059589.4	NM_001101		13	145	13	145	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11675950	11675950	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:11675950G>A	ENST00000423059.4	-	2	1080	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	277					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R277C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTCTTCCCGCGTCTCCTTGCT	0.537										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(829-831)CGC>TGC		thrombospondin, type I, domain containing 7A							129.0	123.0	125.0					7																	11675950		1948	4137	6085	SO:0001583	missense	221981					integral to membrane		g.chr7:11675950G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.829C>T	7.37:g.11675950G>A	ENSP00000406482:p.Arg277Cys	HNSCC(18;0.044)					p.R277C	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	1081	-			277			Extracellular (Potential).|Potential.			Missense_Mutation	SNP	ENST00000423059.4	37	c.829C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895217	0.52121	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.59906	0.23	5.62	5.62	0.85841	.	0.375203	0.31872	N	0.006940	T	0.64371	0.2592	L	0.53249	1.67	0.58432	D	0.999991	D	0.56968	0.978	P	0.49361	0.608	T	0.64580	-0.6374	10	0.49607	T	0.09	.	20.0333	0.97547	0.0:0.0:1.0:0.0	.	277	Q9UPZ6	THS7A_HUMAN	C	277	ENSP00000406482:R277C	ENSP00000262042:R277C	R	-	1	0	THSD7A	11642475	0.477000	0.25909	0.955000	0.39395	0.459000	0.32528	2.156000	0.42310	2.810000	0.96702	0.585000	0.79938	CGC		PASS	0.537	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		19	137	19	137	---	---	---	---
HIP1	3092	broad.mit.edu	37	7	75186969	75186969	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:75186969C>A	ENST00000336926.6	-	16	1596	c.1570G>T	c.(1570-1572)Ggc>Tgc	p.G524C	HIP1_ENST00000434438.2_Missense_Mutation_p.G524C	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	524					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)	p.G524C(1)		breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TTCCGCTGGCCCTGGTCACTG	0.582			T	PDGFRB	CMML																																	uc003uds.1				Dom	yes		7	7q11.23	3092	T	huntingtin interacting protein 1			L	PDGFRB		CMML		1	Substitution - Missense(1)		lung(1)	lung(3)|pancreas(2)|ovary(1)|breast(1)|central_nervous_system(1)	8						c.(1570-1572)GGC>TGC		huntingtin interacting protein 1							160.0	155.0	156.0					7																	75186969		2203	4300	6503	SO:0001583	missense	3092				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton	g.chr7:75186969C>A	AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.1570G>T	7.37:g.75186969C>A	ENSP00000336747:p.Gly524Cys					HIP1_uc011kfz.1_Missense_Mutation_p.G401C	p.G524C	NM_005338	NP_005329	O00291	HIP1_HUMAN			16	1611	-			524			Potential.		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	ENST00000336926.6	37	c.1570G>T	CCDS34669.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079233	0.36662	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.14266	2.75;2.52	4.75	2.82	0.32997	.	0.296028	0.36778	N	0.002406	T	0.07143	0.0181	N	0.14661	0.345	0.30536	N	0.766941	B;B	0.28208	0.203;0.12	B;B	0.28232	0.087;0.087	T	0.13255	-1.0516	10	0.54805	T	0.06	-6.1255	4.2987	0.10915	0.1563:0.5676:0.0:0.2761	.	524;524	E7ES17;O00291	.;HIP1_HUMAN	C	524	ENSP00000336747:G524C;ENSP00000410300:G524C	ENSP00000336747:G524C	G	-	1	0	HIP1	75024905	0.948000	0.32251	0.995000	0.50966	0.756000	0.42949	1.271000	0.33098	0.346000	0.23899	0.585000	0.79938	GGC		PASS	0.582	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342863.2	NM_005338		18	184	18	184	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82764823	82764823	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:82764823C>A	ENST00000333891.9	-	3	2380	c.2043G>T	c.(2041-2043)caG>caT	p.Q681H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q681H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.Q681H(2)|p.Q627H(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGGGAAGTCTGCTGTGGCT	0.527																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(2041-2043)CAG>CAT		piccolo isoform 1							159.0	162.0	161.0					7																	82764823		2074	4219	6293	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82764823C>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2043G>T	7.37:g.82764823C>A	ENSP00000334319:p.Gln681His					PCLO_uc003uhv.2_Missense_Mutation_p.Q681H	p.Q681H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	2332	-			627			Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.2043G>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	2.270	-0.367263	0.05069	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17691	2.26;2.26	5.17	4.28	0.50868	.	.	.	.	.	T	0.12689	0.0308	L	0.32530	0.975	0.51233	D	0.999915	B;B	0.18610	0.029;0.029	B;B	0.23275	0.045;0.026	T	0.08785	-1.0705	9	0.87932	D	0	.	5.1161	0.14834	0.0:0.4693:0.3628:0.1679	.	681;681	Q9Y6V0-5;Q9Y6V0-6	.;.	H	627;681;681	ENSP00000334319:Q681H;ENSP00000388393:Q681H	ENSP00000334319:Q681H	Q	-	3	2	PCLO	82602759	0.000000	0.05858	0.718000	0.30602	0.441000	0.31987	-0.027000	0.12371	1.394000	0.46624	0.591000	0.81541	CAG		PASS	0.527	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		6	70	6	70	---	---	---	---
BAIAP2L1	55971	broad.mit.edu	37	7	97944898	97944898	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:97944898C>G	ENST00000005260.8	-	7	728	c.513G>C	c.(511-513)caG>caC	p.Q171H	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	171	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)	p.Q171H(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGATTTCACTCTGACGAGAAG	0.393																																						uc003upj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(511-513)CAG>CAC		BAI1-associated protein 2-like 1							87.0	86.0	86.0					7																	97944898		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97944898C>G	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.513G>C	7.37:g.97944898C>G	ENSP00000005260:p.Gln171His						p.Q171H	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	776	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		171			IMD.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.513G>C	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708383	0.68615	.	.	ENSG00000006453	ENST00000005260	T	0.25250	1.81	5.61	3.8	0.43715	IRSp53/MIM homology domain (IMD) (3);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.66378	2.025	0.54753	D	0.999989	D	0.89917	1.0	D	0.91635	0.999	T	0.27640	-1.0068	10	0.29301	T	0.29	-6.6279	10.49	0.44746	0.0:0.7883:0.0:0.2117	.	171	Q9UHR4	BI2L1_HUMAN	H	171	ENSP00000005260:Q171H	ENSP00000005260:Q171H	Q	-	3	2	AC093799.1	97782834	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.893000	0.39758	1.518000	0.48934	0.655000	0.94253	CAG		PASS	0.393	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		3	119	3	119	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100684326	100684326	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:100684326C>T	ENST00000306151.4	+	3	9693	c.9629C>T	c.(9628-9630)aCc>aTc	p.T3210I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3210	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.T3210I(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)					GCTGAAGGTACCAGCATTCCA	0.498																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9628-9630)ACC>ATC		mucin 17 precursor							290.0	292.0	291.0					7																	100684326		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684326C>T	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.9629C>T	7.37:g.100684326C>T	ENSP00000302716:p.Thr3210Ile					MUC17_uc010lho.1_RNA	p.T3210I	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9682	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3210			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9629C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	0.591	-0.832906	0.02713	.	.	ENSG00000169876	ENST00000306151	T	0.02498	4.27	1.33	-2.66	0.06077	.	.	.	.	.	T	0.02230	0.0069	N	0.14661	0.345	0.09310	N	1	P	0.47604	0.898	P	0.46685	0.524	T	0.25012	-1.0144	9	0.38643	T	0.18	.	4.7147	0.12889	0.0:0.3937:0.3248:0.2815	.	3210	Q685J3	MUC17_HUMAN	I	3210	ENSP00000302716:T3210I	ENSP00000302716:T3210I	T	+	2	0	MUC17	100471046	0.003000	0.15002	0.000000	0.03702	0.027000	0.11550	1.508000	0.35769	-2.807000	0.00349	-1.780000	0.00649	ACC		PASS	0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		10	406	10	406	---	---	---	---
RELN	5649	broad.mit.edu	37	7	103290727	103290727	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:103290727C>G	ENST00000428762.1	-	16	2155	c.1996G>C	c.(1996-1998)Gat>Cat	p.D666H	RELN_ENST00000343529.5_Missense_Mutation_p.D666H|RELN_ENST00000424685.2_Missense_Mutation_p.D666H	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	666					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.D666H(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)		TAACCATTATCAATTGCCCAC	0.438																																					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.(1996-1998)GAT>CAT		reelin isoform a							242.0	194.0	210.0					7																	103290727		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.chr7:103290727C>G		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.1996G>C	7.37:g.103290727C>G	ENSP00000392423:p.Asp666His					RELN_uc010liz.2_Missense_Mutation_p.D666H	p.D666H	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	16	2156	-			666					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1996G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.760118	0.89932	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22134	2.01;1.97;1.97	6.17	6.17	0.99709	.	0.106950	0.64402	D	0.000008	T	0.52370	0.1730	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.49588	-0.8924	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	666;666	P78509-2;P78509	.;RELN_HUMAN	H	666	ENSP00000392423:D666H;ENSP00000345694:D666H;ENSP00000388446:D666H	ENSP00000345694:D666H	D	-	1	0	RELN	103077963	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.091000	0.76923	2.941000	0.99782	0.655000	0.94253	GAT		PASS	0.438	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		13	102	13	102	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114282526	114282526	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:114282526G>C	ENST00000393494.2	+	7	1116	c.837G>C	c.(835-837)atG>atC	p.M279I	FOXP2_ENST00000393491.3_Missense_Mutation_p.M187I|FOXP2_ENST00000378237.3_Missense_Mutation_p.M279I|FOXP2_ENST00000350908.4_Missense_Mutation_p.M279I|FOXP2_ENST00000393498.2_Missense_Mutation_p.M258I|FOXP2_ENST00000360232.4_Missense_Mutation_p.M279I|FOXP2_ENST00000393489.3_Missense_Mutation_p.M187I|FOXP2_ENST00000408937.3_Missense_Mutation_p.M304I|FOXP2_ENST00000403559.4_Missense_Mutation_p.M296I|FOXP2_ENST00000393500.3_Missense_Mutation_p.M204I|FOXP2_ENST00000390668.3_Missense_Mutation_p.M303I			O15409	FOXP2_HUMAN	forkhead box P2	279					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M304I(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TTCACAGTATGGAAGACAATG	0.428																																						uc003vhb.2																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(835-837)ATG>ATC		forkhead box P2 isoform I							183.0	165.0	171.0					7																	114282526		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114282526G>C	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.837G>C	7.37:g.114282526G>C	ENSP00000377132:p.Met279Ile					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.M304I|FOXP2_uc003vha.2_Missense_Mutation_p.M187I|FOXP2_uc011kmu.1_Missense_Mutation_p.M296I|FOXP2_uc011kmv.1_Missense_Mutation_p.M278I|FOXP2_uc010ljz.1_Missense_Mutation_p.M187I|FOXP2_uc003vgx.2_Missense_Mutation_p.M279I|FOXP2_uc003vhd.2_Missense_Mutation_p.M279I|FOXP2_uc003vhc.2_Missense_Mutation_p.M304I	p.M279I	NM_014491	NP_055306	O15409	FOXP2_HUMAN			7	1211	+			279					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.837G>C	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970489	0.53614	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000393495;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49	4.86	4.86	0.63082	.	0.201639	0.64402	D	0.000006	T	0.15132	0.0365	N	0.02011	-0.69	0.80722	D	1	B;B;B;B;B;B;B	0.14438	0.001;0.001;0.0;0.01;0.002;0.001;0.001	B;B;B;B;B;B;B	0.13407	0.001;0.002;0.002;0.009;0.004;0.001;0.001	T	0.09250	-1.0683	10	0.33141	T	0.24	.	18.3604	0.90372	0.0:0.0:1.0:0.0	.	278;296;187;279;303;279;304	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	I	204;279;304;296;279;256;279;187;279;136;303;187	ENSP00000377137:M204I;ENSP00000377132:M279I;ENSP00000386200:M304I;ENSP00000385069:M296I;ENSP00000265436:M279I;ENSP00000367482:M279I;ENSP00000377129:M187I;ENSP00000353367:M279I;ENSP00000375084:M303I;ENSP00000377130:M187I	ENSP00000265436:M279I	M	+	3	0	FOXP2	114069762	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.416000	0.97383	2.410000	0.81850	0.460000	0.39030	ATG		PASS	0.428	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		8	54	8	54	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123150018	123150018	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:123150018G>C	ENST00000466202.1	-	3	1045	c.469C>G	c.(469-471)Ctt>Gtt	p.L157V	IQUB_ENST00000434450.1_Missense_Mutation_p.L157V|IQUB_ENST00000324698.6_Missense_Mutation_p.L157V|IQUB_ENST00000488987.1_Intron	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	157	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.L157V(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGGTCCTTAAGATATTTAAGA	0.308																																						uc003vkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(469-471)CTT>GTT		IQ motif and ubiquitin domain containing							133.0	150.0	144.0					7																	123150018		2203	4293	6496	SO:0001583	missense	154865							g.chr7:123150018G>C	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.469C>G	7.37:g.123150018G>C	ENSP00000417769:p.Leu157Val					IQUB_uc003vko.2_Missense_Mutation_p.L157V|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.L157V|IQUB_uc003vkq.2_Missense_Mutation_p.L157V	p.L157V	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			3	1046	-			157			Ubiquitin-like.		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.469C>G	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825593	0.32237	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.61158	0.13;0.13;0.13	5.41	3.56	0.40772	Ubiquitin supergroup (1);Ubiquitin (1);	0.123818	0.32518	N	0.005988	T	0.67646	0.2915	M	0.68952	2.095	0.32976	D	0.522981	D;D;D	0.57571	0.98;0.975;0.98	D;P;D	0.64776	0.929;0.883;0.929	T	0.73395	-0.3996	10	0.56958	D	0.05	.	6.6755	0.23092	0.0912:0.0:0.7328:0.176	.	157;157;157	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	V	157	ENSP00000417769:L157V;ENSP00000324882:L157V;ENSP00000388498:L157V	ENSP00000324882:L157V	L	-	1	0	IQUB	122937254	0.998000	0.40836	0.191000	0.23289	0.019000	0.09904	3.461000	0.53035	0.617000	0.30160	0.561000	0.74099	CTT		PASS	0.308	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		26	258	26	258	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133861738	133861738	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:133861738G>C	ENST00000285928.2	+	9	1099	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	344	LRRCT.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)	p.E344Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGAAAAGTCTGAATATTGGTT	0.353																																						uc003vrm.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|kidney(1)	5						c.(1030-1032)GAA>CAA		leucine-rich repeats and guanylate kinase domain							88.0	88.0	88.0					7																	133861738		2202	4299	6501	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133861738G>C	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1030G>C	7.37:g.133861738G>C	ENSP00000285928:p.Glu344Gln						p.E344Q	NM_144648	NP_653249	Q96M69	LRGUK_HUMAN			9	1046	+			344			LRRCT.		Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1030G>C	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044931	0.75732	.	.	ENSG00000155530	ENST00000285928	T	0.54675	0.56	5.96	5.96	0.96718	.	0.423363	0.25267	N	0.031901	T	0.49098	0.1537	L	0.37630	1.12	0.43234	D	0.995131	P	0.40638	0.725	B	0.40375	0.327	T	0.42258	-0.9462	10	0.39692	T	0.17	-9.9523	19.167	0.93561	0.0:0.0:1.0:0.0	.	344	Q96M69	LRGUK_HUMAN	Q	344	ENSP00000285928:E344Q	ENSP00000285928:E344Q	E	+	1	0	LRGUK	133512278	1.000000	0.71417	0.870000	0.34147	0.757000	0.42996	7.173000	0.77612	2.830000	0.97506	0.655000	0.94253	GAA		PASS	0.353	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		3	94	3	94	---	---	---	---
INSIG1	3638	broad.mit.edu	37	7	155094081	155094081	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr7:155094081C>G	ENST00000340368.4	+	4	869	c.658C>G	c.(658-660)Cta>Gta	p.L220V	INSIG1_ENST00000344756.4_Missense_Mutation_p.L68V|INSIG1_ENST00000342407.5_Intron	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	220					cell proliferation (GO:0008283)|cholesterol biosynthetic process (GO:0006695)|cranial suture morphogenesis (GO:0060363)|inner ear morphogenesis (GO:0042472)|metabolic process (GO:0008152)|middle ear morphogenesis (GO:0042474)|negative regulation of cargo loading into COPII-coated vesicle (GO:1901303)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of steroid biosynthetic process (GO:0010894)|palate development (GO:0060021)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|SREBP-SCAP-Insig complex (GO:0032937)		p.L220V(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATAGCTTTTCTAGCTACGCT	0.438																																						uc003wly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(658-660)CTA>GTA		insulin induced gene 1 isoform 1							124.0	113.0	117.0					7																	155094081		2203	4300	6503	SO:0001583	missense	3638				cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr7:155094081C>G		CCDS5938.1, CCDS5939.1	7q36	2008-07-18			ENSG00000186480	ENSG00000186480			6083	protein-coding gene	gene with protein product	"""INSIG-1 membrane protein"""	602055				9268630	Standard	NM_005542		Approved	CL-6, MGC1405	uc003wly.3	O15503	OTTHUMG00000151330	ENST00000340368.4:c.658C>G	7.37:g.155094081C>G	ENSP00000344741:p.Leu220Val					INSIG1_uc011kvu.1_Missense_Mutation_p.L68V|INSIG1_uc003wlz.2_Intron	p.L220V	NM_005542	NP_005533	O15503	INSI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	4	869	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	220			Helical; (Potential).		A4D2N1|A8K6L0|Q53XW8|Q9BUV5	Missense_Mutation	SNP	ENST00000340368.4	37	c.658C>G	CCDS5938.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.53|15.53	2.859448|2.859448	0.51376|0.51376	.|.	.|.	ENSG00000186480|ENSG00000186480	ENST00000340368;ENST00000344756|ENST00000476756	T;T|.	0.47869|.	0.92;0.83|.	5.73|5.73	4.85|4.85	0.62838|0.62838	.|.	0.066450|.	0.64402|.	D|.	0.000008|.	T|T	0.53674|0.53674	0.1811|0.1811	L|L	0.37750|0.37750	1.13|1.13	0.53005|0.53005	D|D	0.999966|0.999966	B;B|.	0.28584|.	0.216;0.117|.	B;B|.	0.36959|.	0.237;0.103|.	T|T	0.50110|0.50110	-0.8866|-0.8866	10|5	0.09084|.	T|.	0.74|.	.|.	10.6978|10.6978	0.45909|0.45909	0.0:0.7566:0.1682:0.0752|0.0:0.7566:0.1682:0.0752	.|.	68;220|.	F5H6P3;O15503|.	.;INSI1_HUMAN|.	V|C	220;68|128	ENSP00000344741:L220V;ENSP00000340010:L68V|.	ENSP00000344741:L220V|.	L|S	+|+	1|2	2|0	INSIG1|INSIG1	154725016|154725016	1.000000|1.000000	0.71417|0.71417	0.827000|0.827000	0.32855|0.32855	0.839000|0.839000	0.47603|0.47603	1.415000|1.415000	0.34748|0.34748	1.424000|1.424000	0.47217|0.47217	0.650000|0.650000	0.86243|0.86243	CTA|TCT		PASS	0.438	INSIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322244.3	NM_198336		6	91	6	91	---	---	---	---
EGR3	1960	broad.mit.edu	37	8	22548418	22548418	+	Silent	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr8:22548418G>T	ENST00000317216.2	-	2	1089	c.732C>A	c.(730-732)ggC>ggA	p.G244G	EGR3_ENST00000524088.1_5'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000522910.1_Silent_p.G206G	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	244					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G244G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GGGGCAGGCTGCCAAAGCCCG	0.662																																						uc003xcm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(730-732)GGC>GGA		early growth response 3							37.0	44.0	42.0					8																	22548418		2203	4300	6503	SO:0001819	synonymous_variant	1960				circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:22548418G>T	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.732C>A	8.37:g.22548418G>T						EGR3_uc011kzn.1_Silent_p.G206G|EGR3_uc011kzo.1_Silent_p.G190G	p.G244G	NM_004430	NP_004421	Q06889	EGR3_HUMAN		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)	2	1090	-		Prostate(55;0.0421)|Breast(100;0.102)	244					A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Silent	SNP	ENST00000317216.2	37	c.732C>A	CCDS6033.1																																																																																				PASS	0.662	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430		13	102	13	102	---	---	---	---
HOOK3	84376	broad.mit.edu	37	8	42868513	42868513	+	Missense_Mutation	SNP	G	G	C	rs187317168		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr8:42868513G>C	ENST00000307602.4	+	21	2186	c.1986G>C	c.(1984-1986)gaG>gaC	p.E662D		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	662	Required for association with Golgi.|Required for interaction with MSR1.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)	p.E662D(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			AGATGGAAGAGAAATATATTG	0.249			T	RET	papillary thyroid								G|||	1	0.000199681	0.0	0.0014	5008	,	,		15372	0.0		0.0	False		,,,				2504	0.0					uc003xpr.2				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(1984-1986)GAG>GAC		golgi-associated microtubule-binding protein							101.0	115.0	110.0					8																	42868513		2202	4295	6497	SO:0001583	missense	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42868513G>C	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1986G>C	8.37:g.42868513G>C	ENSP00000305699:p.Glu662Asp						p.E662D	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		21	2228	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	662			Potential.|Required for interaction with MSR1.|Required for association with Golgi.		D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	ENST00000307602.4	37	c.1986G>C	CCDS6139.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	19.80	3.894841	0.72639	.	.	ENSG00000168172	ENST00000307602;ENST00000533539	T;T	0.34072	1.38;1.38	5.72	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.56156	0.1966	M	0.72576	2.205	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.57551	-0.7792	10	0.51188	T	0.08	-20.8943	12.0572	0.53542	0.197:0.0:0.803:0.0	.	662	Q86VS8	HOOK3_HUMAN	D	662;140	ENSP00000305699:E662D;ENSP00000433953:E140D	ENSP00000305699:E662D	E	+	3	2	HOOK3	42987670	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.376000	0.59556	0.894000	0.36317	-0.137000	0.14449	GAG		PASS	0.249	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		5	118	5	118	---	---	---	---
SDC2	6383	broad.mit.edu	37	8	97621715	97621715	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr8:97621715G>A	ENST00000302190.4	+	5	1466	c.545G>A	c.(544-546)gGa>gAa	p.G182E	SDC2_ENST00000518385.1_Missense_Mutation_p.G146E|SDC2_ENST00000522911.1_Missense_Mutation_p.G153E|SDC2_ENST00000519914.1_Missense_Mutation_p.G153E	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	182					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)	p.G182E(1)		breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	TATGACCTTGGAGAACGCAAA	0.418																																						uc003yhv.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(544-546)GGA>GAA		syndecan 2 precursor	Sargramostim(DB00020)						138.0	122.0	127.0					8																	97621715		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97621715G>A	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.545G>A	8.37:g.97621715G>A	ENSP00000307046:p.Gly182Glu					SDC2_uc011lgu.1_Missense_Mutation_p.G153E	p.G182E	NM_002998	NP_002989	P34741	SDC2_HUMAN			5	1163	+	Breast(36;3.41e-05)		182			Cytoplasmic (Potential).		B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.545G>A	CCDS6272.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282747	0.59867	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914	T;T;T;T	0.34859	1.34;1.49;1.4;1.4	6.05	6.05	0.98169	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	T	0.40423	0.1116	L	0.39085	1.19	0.80722	D	1	D	0.52996	0.957	P	0.57324	0.818	T	0.06232	-1.0838	10	0.07325	T	0.83	-24.2435	13.7549	0.62930	0.0698:0.0:0.9302:0.0	.	182	P34741	SDC2_HUMAN	E	182;146;182;172;153;153	ENSP00000307046:G182E;ENSP00000429045:G146E;ENSP00000427784:G153E;ENSP00000428256:G153E	ENSP00000307046:G182E	G	+	2	0	SDC2	97690891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.032000	0.88838	2.878000	0.98634	0.650000	0.86243	GGA		PASS	0.418	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		4	82	4	82	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	100994303	100994303	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr8:100994303C>T	ENST00000360863.6	-	22	3416	c.3222G>A	c.(3220-3222)aaG>aaA	p.K1074K	RGS22_ENST00000523437.1_Silent_p.K1062K|RGS22_ENST00000523287.1_Silent_p.K893K	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1074	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.K1074K(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)			TTGTAATCTTCTTCTGGATGA	0.358																																						uc003yjb.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(3220-3222)AAG>AAA		regulator of G-protein signaling 22							112.0	107.0	109.0					8																	100994303		1861	4099	5960	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100994303C>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.3222G>A	8.37:g.100994303C>T						RGS22_uc003yja.1_Silent_p.K893K|RGS22_uc003yjc.1_Silent_p.K1062K	p.K1074K	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)		22	3417	-			1074			RGS 2.		A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.3222G>A	CCDS43758.1																																																																																				PASS	0.358	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		3	74	3	74	---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139833588	139833588	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr8:139833588C>T	ENST00000303045.6	-	7	1482	c.1036G>A	c.(1036-1038)Gct>Act	p.A346T	COL22A1_ENST00000435777.1_Missense_Mutation_p.A346T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	346	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A346T(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)			ACCCTGACAGCATCTTTCATG	0.572										HNSCC(7;0.00092)																												uc003yvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|pancreas(1)|skin(1)	13						c.(1036-1038)GCT>ACT		collagen, type XXII, alpha 1							154.0	150.0	152.0					8																	139833588		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139833588C>T	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.1036G>A	8.37:g.139833588C>T	ENSP00000303153:p.Ala346Thr	HNSCC(7;0.00092)					p.A346T	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		7	1483	-	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)		346			TSP N-terminal.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.1036G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862716	0.71949	.	.	ENSG00000169436	ENST00000303045;ENST00000435777	T;T	0.13538	2.58;2.58	5.51	5.51	0.81932	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.49916	D	0.000135	T	0.29288	0.0729	L	0.37630	1.12	0.58432	D	0.999992	D	0.89917	1.0	D	0.83275	0.996	T	0.00634	-1.1634	9	.	.	.	.	18.4798	0.90807	0.0:1.0:0.0:0.0	.	346	Q8NFW1	COMA1_HUMAN	T	346	ENSP00000303153:A346T;ENSP00000387655:A346T	.	A	-	1	0	COL22A1	139902770	1.000000	0.71417	0.990000	0.47175	0.481000	0.33189	5.733000	0.68571	2.616000	0.88540	0.558000	0.71614	GCT		PASS	0.572	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		10	179	10	179	---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	368110	368110	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:368110G>C	ENST00000453981.1	+	15	1884	c.1772G>C	c.(1771-1773)gGa>gCa	p.G591A	DOCK8_ENST00000469391.1_Missense_Mutation_p.G523A|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000432829.2_Missense_Mutation_p.G523A|DOCK8_ENST00000382329.1_Missense_Mutation_p.G3A			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	591	DHR-1.				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.G591A(1)|p.G523A(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)		TTTATGTGTGGAGAAGATGCT	0.473																																						uc003zgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(3)	6						c.(1771-1773)GGA>GCA		dedicator of cytokinesis 8							138.0	115.0	123.0					9																	368110		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:368110G>C	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.1772G>C	9.37:g.368110G>C	ENSP00000408464:p.Gly591Ala					DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.G523A|DOCK8_uc010mgw.1_5'UTR|DOCK8_uc003zgk.2_5'UTR|DOCK8_uc003zgh.2_RNA	p.G591A	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)	15	1884	+		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)	591					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.1772G>C	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814374	0.90790	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.16073	2.61;2.61;2.61;2.37	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.49256	1.55	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.79108	0.992;0.971	T	0.02728	-1.1118	10	0.44086	T	0.13	.	18.9969	0.92817	0.0:0.0:1.0:0.0	.	523;591	E9PH09;Q8NF50	.;DOCK8_HUMAN	A	591;591;523;523;3	ENSP00000408464:G591A;ENSP00000394888:G523A;ENSP00000419438:G523A;ENSP00000371766:G3A	ENSP00000287364:G591A	G	+	2	0	DOCK8	358110	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.697000	0.84279	2.583000	0.87209	0.650000	0.86243	GGA		PASS	0.473	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		11	112	11	112	---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8523518	8523518	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:8523518C>T	ENST00000381196.4	-	16	1229	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	PTPRD_ENST00000356435.5_Missense_Mutation_p.R229Q|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Intron|PTPRD_ENST00000358503.5_Intron|PTPRD_ENST00000355233.5_Missense_Mutation_p.R229Q|PTPRD_ENST00000397611.3_Missense_Mutation_p.R226Q|PTPRD_ENST00000486161.1_Missense_Mutation_p.R229Q|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.R229Q	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	229					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R229Q(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAACCTTCTCGCAGCTCTGA	0.368										TSP Lung(15;0.13)																												uc003zkk.2																			2	Substitution - Missense(2)		lung(2)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(685-687)CGA>CAA		protein tyrosine phosphatase, receptor type, D							88.0	82.0	84.0					9																	8523518		1869	4122	5991	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8523518C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.686G>A	9.37:g.8523518C>T	ENSP00000370593:p.Arg229Gln	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.R229Q|PTPRD_uc003zkq.2_Missense_Mutation_p.R229Q|PTPRD_uc003zkr.2_Missense_Mutation_p.R223Q|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Missense_Mutation_p.R229Q|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Missense_Mutation_p.R229Q|PTPRD_uc003zko.2_Missense_Mutation_p.R226Q	p.R229Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	18	1397	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	229			Extracellular (Potential).		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.686G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934931	0.34189	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000355233;ENST00000397611;ENST00000540109;ENST00000486161	T;T;T;T;T;T	0.53857	0.6;0.6;0.79;0.68;0.6;0.79	5.7	5.7	0.88788	.	.	.	.	.	T	0.50343	0.1610	L	0.31371	0.925	0.80722	D	1	B;P;D;D;P;P;P	0.67145	0.36;0.741;0.993;0.996;0.844;0.85;0.9	B;B;B;P;B;B;B	0.48030	0.083;0.049;0.361;0.564;0.202;0.163;0.279	T	0.41875	-0.9484	8	.	.	.	.	19.8388	0.96673	0.0:1.0:0.0:0.0	.	223;229;229;226;226;229;229	Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;Q2HXI4;P23468	.;.;.;.;.;.;PTPRD_HUMAN	Q	229;229;229;226;229;229	ENSP00000370593:R229Q;ENSP00000348812:R229Q;ENSP00000347373:R229Q;ENSP00000380735:R226Q;ENSP00000438164:R229Q;ENSP00000417093:R229Q	.	R	-	2	0	PTPRD	8513518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.954000	0.70298	2.695000	0.91970	0.561000	0.74099	CGA		PASS	0.368	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			3	29	3	29	---	---	---	---
MOB3B	79817	broad.mit.edu	37	9	27455464	27455464	+	Missense_Mutation	SNP	C	C	G	rs377183153		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:27455464C>G	ENST00000262244.5	-	2	509	c.85G>C	c.(85-87)Gag>Cag	p.E29Q		NM_024761.4	NP_079037.3	Q86TA1	MOB3B_HUMAN	MOB kinase activator 3B	29							metal ion binding (GO:0046872)	p.E29Q(1)									TTGTGCAGCTCAAACCTCTGT	0.552																																						uc003zqn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pleura(1)	2						c.(85-87)GAG>CAG		MOB1, Mps One Binder kinase activator-like 2B							200.0	191.0	194.0					9																	27455464		2203	4300	6503	SO:0001583	missense	79817						metal ion binding|protein binding	g.chr9:27455464C>G	AK023266	CCDS6520.1	9p21.1	2012-07-05	2011-09-28	2011-09-28	ENSG00000120162	ENSG00000120162		"""MOB kinase activators"""	23825	protein-coding gene	gene with protein product	"""monopolar spindle 1 binding, MOB1, domain containing"""		"""MOB1, Mps One Binder kinase activator-like 2B (yeast)"", ""chromosome 9 open reading frame 35"""	MOBKL2B, C9orf35		12477932	Standard	NM_024761		Approved	MOB1D, FLJ13204	uc003zqn.3	Q86TA1	OTTHUMG00000019717	ENST00000262244.5:c.85G>C	9.37:g.27455464C>G	ENSP00000262244:p.Glu29Gln						p.E29Q	NM_024761	NP_079037	Q86TA1	MOL2B_HUMAN		Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397)	2	581	-		all_neural(11;9.12e-11)	29					Q8NEB4|Q9H8V4	Missense_Mutation	SNP	ENST00000262244.5	37	c.85G>C	CCDS6520.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259486	0.39995	.	.	ENSG00000120162	ENST00000262244	.	.	.	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.54029	0.1833	L	0.41961	1.31	0.58432	D	0.999999	B	0.14805	0.011	B	0.10450	0.005	T	0.51818	-0.8657	9	0.07325	T	0.83	-33.1998	18.8165	0.92079	0.0:1.0:0.0:0.0	.	29	Q86TA1	MOB3B_HUMAN	Q	29	.	ENSP00000262244:E29Q	E	-	1	0	MOBKL2B	27445464	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.788000	0.95919	0.557000	0.71058	GAG		PASS	0.552	MOB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051974.2	NM_024761		10	218	10	218	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32634386	32634386	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:32634386A>G	ENST00000242310.4	-	1	1281	c.1192T>C	c.(1192-1194)Tct>Cct	p.S398P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	398					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.S398P(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCATTCTAGATTTTATCACA	0.458																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1192-1194)TCT>CCT		TBP-associated factor RNA polymerase 1-like							219.0	211.0	214.0					9																	32634386		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32634386A>G	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1192T>C	9.37:g.32634386A>G	ENSP00000418379:p.Ser398Pro					uc003zrh.1_RNA	p.S398P	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	1282	-			398					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1192T>C	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	6.572	0.473769	0.12521	.	.	ENSG00000122728	ENST00000242310	T	0.08546	3.08	0.479	-0.958	0.10347	.	1.204080	0.05431	N	0.545941	T	0.06917	0.0176	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	9	0.25751	T	0.34	.	.	.	.	.	398	Q8IZX4	TAF1L_HUMAN	P	398	ENSP00000418379:S398P	ENSP00000418379:S398P	S	-	1	0	TAF1L	32624386	0.027000	0.19231	0.041000	0.18516	0.066000	0.16364	-0.007000	0.12810	-0.666000	0.05310	0.164000	0.16699	TCT		PASS	0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			34	191	34	191	---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107581073	107581073	+	Nonsense_Mutation	SNP	A	A	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:107581073A>T	ENST00000374736.3	-	23	3727	c.3333T>A	c.(3331-3333)tgT>tgA	p.C1111*		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1111	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.C1111*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AGGAGCCCACACAGCACAGCT	0.547																																						uc004bcl.2																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(3331-3333)TGT>TGA		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						97.0	86.0	90.0					9																	107581073		2203	4300	6503	SO:0001587	stop_gained	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107581073A>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.3333T>A	9.37:g.107581073A>T	ENSP00000363868:p.Cys1111*						p.C1111*	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	23	3646	-			1111			ABC transporter 1.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Nonsense_Mutation	SNP	ENST00000374736.3	37	c.3333T>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	A	45	11.903232	0.99616	.	.	ENSG00000165029	ENST00000374736	.	.	.	5.73	-0.749	0.11084	.	0.043642	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.2191	0.20671	0.6185:0.1204:0.2611:0.0	.	.	.	.	X	1111	.	ENSP00000363868:C1111X	C	-	3	2	ABCA1	106620894	0.977000	0.34250	0.997000	0.53966	0.999000	0.98932	0.267000	0.18552	-0.124000	0.11724	0.533000	0.62120	TGT		PASS	0.547	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		12	73	12	73	---	---	---	---
EPB41L4B	54566	broad.mit.edu	37	9	112018447	112018447	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:112018447C>G	ENST00000374566.3	-	9	1415	c.898G>C	c.(898-900)Gaa>Caa	p.E300Q	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.E300Q	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	300	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)	p.E300Q(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTAGCTCCTTCAAAGATTAAT	0.368																																						uc004bdz.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(898-900)GAA>CAA		erythrocyte membrane protein band 4.1 like 4B							116.0	114.0	115.0					9																	112018447		1848	4102	5950	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112018447C>G	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.898G>C	9.37:g.112018447C>G	ENSP00000363694:p.Glu300Gln					EPB41L4B_uc004bea.2_Missense_Mutation_p.E300Q	p.E300Q	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			9	1193	-			300			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.898G>C	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.983754	0.93044	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.81821	-1.54;-1.54	5.92	5.92	0.95590	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.41294	D	0.000903	D	0.85173	0.5636	N	0.25647	0.755	0.80722	D	1	B;D	0.89917	0.164;1.0	B;D	0.80764	0.122;0.994	D	0.86160	0.1593	10	0.72032	D	0.01	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	300;300	Q9H329-2;Q9H329	.;E41LB_HUMAN	Q	300;300;222	ENSP00000363694:E300Q;ENSP00000363685:E300Q	ENSP00000311274:E222Q	E	-	1	0	EPB41L4B	111058268	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.822000	0.97130	0.650000	0.86243	GAA		PASS	0.368	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1	NM_018424		3	152	3	152	---	---	---	---
TNFSF15	9966	broad.mit.edu	37	9	117552889	117552889	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:117552889G>C	ENST00000374045.4	-	4	712	c.599C>G	c.(598-600)tCt>tGt	p.S200C	TNFSF15_ENST00000374044.1_Missense_Mutation_p.S123C|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	200					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.S200C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TTCGCATACAGACTTGGTCCC	0.537																																						uc004bjh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)TCT>TGT		tumor necrosis factor (ligand) superfamily,							192.0	154.0	167.0					9																	117552889		2203	4300	6503	SO:0001583	missense	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117552889G>C	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.599C>G	9.37:g.117552889G>C	ENSP00000363157:p.Ser200Cys					TNFSF15_uc004bjg.2_Missense_Mutation_p.S141C	p.S200C	NM_005118	NP_005109	O95150	TNF15_HUMAN			4	715	-			200			Extracellular (Potential).		Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	c.599C>G	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130552	0.56828	.	.	ENSG00000181634	ENST00000374045;ENST00000374044	D;D	0.95412	-3.7;-3.7	6.03	6.03	0.97812	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.261621	0.32655	N	0.005801	D	0.97841	0.9291	M	0.88570	2.965	0.39336	D	0.965503	D;D	0.89917	1.0;0.999	D;D	0.67382	0.951;0.923	D	0.98939	1.0790	10	0.87932	D	0	-18.794	15.2928	0.73879	0.0:0.0:0.86:0.14	.	200;141	O95150;O95150-2	TNF15_HUMAN;.	C	200;123	ENSP00000363157:S200C;ENSP00000363156:S123C	ENSP00000363156:S123C	S	-	2	0	TNFSF15	116592710	1.000000	0.71417	0.996000	0.52242	0.389000	0.30415	4.056000	0.57448	2.861000	0.98227	0.655000	0.94253	TCT		PASS	0.537	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		4	48	4	48	---	---	---	---
TLR4	7099	broad.mit.edu	37	9	120476482	120476482	+	Silent	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:120476482A>G	ENST00000355622.6	+	3	2177	c.2076A>G	c.(2074-2076)ctA>ctG	p.L692L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L652L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	692	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				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.L692L(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)	GGAATGAGCTAGTAAAGAATT	0.453																																						uc004bjz.2																			1	Substitution - coding silent(1)		lung(1)	lung(10)|ovary(4)|breast(1)|skin(1)	16						c.(2074-2076)CTA>CTG		toll-like receptor 4 precursor							106.0	99.0	101.0					9																	120476482		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.chr9:120476482A>G	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.2076A>G	9.37:g.120476482A>G						TLR4_uc004bka.2_Silent_p.L652L|TLR4_uc004bkb.2_Silent_p.L492L	p.L692L	NM_138554	NP_612564	O00206	TLR4_HUMAN			3	2367	+			692			Cytoplasmic (Potential).|TIR.		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	SNP	ENST00000355622.6	37	c.2076A>G	CCDS6818.1																																																																																				PASS	0.453	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3	NM_138554		16	93	16	93	---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126132615	126132615	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:126132615C>T	ENST00000373631.3	+	7	1284	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	CRB2_ENST00000373629.2_Missense_Mutation_p.P96L|CRB2_ENST00000359999.3_Missense_Mutation_p.P428L	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	428	EGF-like 9. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)	p.P428L(1)		NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CACTGCCCACCTGGTACCCAT	0.632																																						uc004bnx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1282-1284)CCT>CTT		crumbs homolog 2 precursor							47.0	52.0	51.0					9																	126132615		2203	4299	6502	SO:0001583	missense	286204					extracellular region|integral to membrane|plasma membrane	calcium ion binding	g.chr9:126132615C>T	AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1283C>T	9.37:g.126132615C>T	ENSP00000362734:p.Pro428Leu					CRB2_uc004bnw.1_Missense_Mutation_p.P428L	p.P428L	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN			7	1375	+			428			Extracellular (Potential).|EGF-like 9.		A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	ENST00000373631.3	37	c.1283C>T	CCDS6852.2	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089613	0.55968	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	D;D;T	0.87412	-2.25;-2.25;-1.14	4.69	4.69	0.59074	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.42682	D	0.000666	D	0.93423	0.7902	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.984;0.993	D	0.92575	0.6069	10	0.30078	T	0.28	.	17.6143	0.88064	0.0:1.0:0.0:0.0	.	428;428	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	L	428;428;96	ENSP00000353092:P428L;ENSP00000362734:P428L;ENSP00000362732:P96L	ENSP00000353092:P428L	P	+	2	0	CRB2	125172436	0.994000	0.37717	0.989000	0.46669	0.553000	0.35397	2.042000	0.41222	2.149000	0.67028	0.448000	0.29417	CCT		PASS	0.632	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053990.3	NM_173689		4	61	4	61	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126219678	126219678	+	Missense_Mutation	SNP	C	C	T	rs202131059		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:126219678C>T	ENST00000373624.2	-	15	1336	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	DENND1A_ENST00000373618.1_Missense_Mutation_p.E347K|DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000394219.3_Missense_Mutation_p.E347K|DENND1A_ENST00000373620.3_Missense_Mutation_p.E379K|DENND1A_ENST00000394215.2_Missense_Mutation_p.E349K|DENND1A_ENST00000542603.1_Missense_Mutation_p.E121K	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	379					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.E379K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTGAAACCTTCGCCGGAATTG	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19502	0.001		0.0	False		,,,				2504	0.0					uc004bnz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1135-1137)GAA>AAA		DENN/MADD domain containing 1A isoform 1							132.0	127.0	129.0					9																	126219678		2203	4300	6503	SO:0001583	missense	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126219678C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1135G>A	9.37:g.126219678C>T	ENSP00000362727:p.Glu379Lys					DENND1A_uc011lzl.1_Missense_Mutation_p.E154K|DENND1A_uc004bny.1_Intron|DENND1A_uc011lzm.1_Missense_Mutation_p.E347K|DENND1A_uc004boa.1_Missense_Mutation_p.E379K|DENND1A_uc004bob.1_Missense_Mutation_p.E349K|DENND1A_uc004boc.2_Missense_Mutation_p.E347K	p.E379K	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			15	1368	-			379					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1135G>A	CCDS35133.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.36	2.811539	0.50527	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219;ENST00000373620;ENST00000394215;ENST00000373618	T;T;T;T;T;T	0.22743	3.35;1.94;3.29;3.38;3.23;3.26	5.46	4.57	0.56435	.	0.096169	0.64402	D	0.000001	T	0.15609	0.0376	L	0.47716	1.5	0.47584	D	0.999461	B;B;B;B;B;B	0.26081	0.055;0.055;0.141;0.068;0.141;0.121	B;B;B;B;B;B	0.24848	0.023;0.023;0.031;0.056;0.056;0.01	T	0.03287	-1.1052	10	0.06891	T	0.86	-10.4924	9.0274	0.36239	0.0:0.7791:0.0:0.2209	.	347;337;347;349;379;379	Q8TEH3-6;Q8TEH3-7;Q8TEH3-4;Q8TEH3-5;Q8TEH3-2;Q8TEH3	.;.;.;.;.;DEN1A_HUMAN	K	379;121;347;379;349;347	ENSP00000362727:E379K;ENSP00000437457:E121K;ENSP00000377766:E347K;ENSP00000362722:E379K;ENSP00000377763:E349K;ENSP00000362720:E347K	ENSP00000362720:E347K	E	-	1	0	DENND1A	125259499	0.934000	0.31675	0.822000	0.32727	0.990000	0.78478	1.953000	0.40352	1.431000	0.47355	0.655000	0.94253	GAA		PASS	0.433	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		4	130	4	130	---	---	---	---
TRUB2	26995	broad.mit.edu	37	9	131084583	131084583	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:131084583C>G	ENST00000372890.4	-	1	438	c.105G>C	c.(103-105)ctG>ctC	p.L35L	COQ4_ENST00000609948.1_5'Flank|COQ4_ENST00000608951.1_5'Flank|COQ4_ENST00000300452.3_5'Flank|TRUB2_ENST00000460320.1_5'UTR|COQ4_ENST00000372875.3_5'Flank|TRUB2_ENST00000546104.1_5'Flank	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	35					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.L35L(1)		kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						ACTCACCCTTCAGAAGTTGTA	0.562																																						uc004buq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(103-105)CTG>CTC		TruB pseudouridine (psi) synthase homolog 2							97.0	87.0	91.0					9																	131084583		2203	4300	6503	SO:0001819	synonymous_variant	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131084583C>G	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.105G>C	9.37:g.131084583C>G						COQ4_uc011max.1_5'Flank|COQ4_uc004bur.3_5'Flank|COQ4_uc004bus.2_5'Flank|COQ4_uc010mxy.2_5'Flank	p.L35L	NM_015679	NP_056494	O95900	TRUB2_HUMAN			1	115	-			35					B7Z7G5	Silent	SNP	ENST00000372890.4	37	c.105G>C	CCDS6897.1																																																																																				PASS	0.562	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		5	76	5	76	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131765157	131765157	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:131765157C>A	ENST00000372577.2	+	37	4220	c.4199C>A	c.(4198-4200)tCc>tAc	p.S1400Y	RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1400					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)		p.S1400Y(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TACCGCCTGTCCATGTCCCTG	0.582																																						uc004bws.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						c.(4198-4200)TCC>TAC		nucleoporin 188kDa							92.0	81.0	85.0					9																	131765157		2203	4300	6503	SO:0001583	missense	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131765157C>A	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4199C>A	9.37:g.131765157C>A	ENSP00000361658:p.Ser1400Tyr					NUP188_uc004bwu.2_Missense_Mutation_p.S743Y	p.S1400Y	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN			37	4221	+			1400					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Missense_Mutation	SNP	ENST00000372577.2	37	c.4199C>A	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773750	0.69992	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	T	0.34667	1.35	5.93	5.04	0.67666	.	0.199315	0.53938	D	0.000042	T	0.49660	0.1570	L	0.56769	1.78	0.45867	D	0.998728	D;D	0.56521	0.976;0.976	P;P	0.53450	0.556;0.726	T	0.53995	-0.8359	10	0.66056	D	0.02	-41.7739	16.4722	0.84114	0.0:0.869:0.131:0.0	.	733;1400	E9PET9;Q5SRE5	.;NU188_HUMAN	Y	1289;1400	ENSP00000361658:S1400Y	ENSP00000349125:S1289Y	S	+	2	0	NUP188	130804978	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	4.888000	0.63164	1.531000	0.49152	-0.225000	0.12378	TCC		PASS	0.582	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			4	86	4	86	---	---	---	---
GLT6D1	360203	broad.mit.edu	37	9	138516149	138516149	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr9:138516149C>T	ENST00000371763.1	-	5	878	c.625G>A	c.(625-627)Gag>Aag	p.E209K		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	209					carbohydrate metabolic process (GO:0005975)	integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)	p.E209K(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GGCCTCCTCTCATAAGGGAAG	0.527																																						uc010nbd.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(625-627)GAG>AAG		glycosyltransferase 6 domain containing 1							89.0	87.0	88.0					9																	138516149		1912	4122	6034	SO:0001583	missense	360203				carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	g.chr9:138516149C>T	AY336054	CCDS43900.1	9q34.3	2013-02-22	2004-09-16	2004-09-17	ENSG00000204007	ENSG00000204007		"""Glycosyltransferase family 6 domain containing"""	23671	protein-coding gene	gene with protein product		613699	"""galactosyltransferase family 6 domain containing 1"""	GLTDC1			Standard	NM_182974		Approved		uc010nbd.1	Q7Z4J2	OTTHUMG00000020911	ENST00000371763.1:c.625G>A	9.37:g.138516149C>T	ENSP00000360829:p.Glu209Lys						p.E209K	NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)	5	879	-		Myeloproliferative disorder(178;0.0821)	209			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000371763.1	37	c.625G>A	CCDS43900.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458040	0.84317	.	.	ENSG00000204007	ENST00000371763	T	0.02121	4.44	3.49	3.49	0.39957	.	0.000000	0.56097	D	0.000022	T	0.15478	0.0373	M	0.90870	3.155	0.43430	D	0.995598	D	0.89917	1.0	D	0.80764	0.994	T	0.01570	-1.1322	10	0.87932	D	0	-53.9441	13.325	0.60454	0.0:1.0:0.0:0.0	.	209	Q7Z4J2	GL6D1_HUMAN	K	209	ENSP00000360829:E209K	ENSP00000360829:E209K	E	-	1	0	GLT6D1	137655970	1.000000	0.71417	0.618000	0.29105	0.008000	0.06430	5.872000	0.69636	2.268000	0.75426	0.655000	0.94253	GAG		PASS	0.527	GLT6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055005.2	NM_182974		7	102	7	102	---	---	---	---
NET1	10276	broad.mit.edu	37	10	5496952	5496952	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:5496952G>C	ENST00000355029.4	+	10	1210	c.1068G>C	c.(1066-1068)aaG>aaC	p.K356N	NET1_ENST00000484741.1_3'UTR|NET1_ENST00000542715.1_Missense_Mutation_p.K175N|NET1_ENST00000380359.3_Missense_Mutation_p.K302N	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	356	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.K356N(1)|p.K302N(1)		breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						TCAACTTGAAGAAAGGTGAAT	0.428																																						uc001iia.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1066-1068)AAG>AAC		neuroepithelial cell transforming gene 1 isoform							85.0	85.0	85.0					10																	5496952		2203	4300	6503	SO:0001583	missense	10276				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity	g.chr10:5496952G>C	AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.1068G>C	10.37:g.5496952G>C	ENSP00000347134:p.Lys356Asn					NET1_uc010qar.1_Missense_Mutation_p.K175N|NET1_uc001iib.2_Missense_Mutation_p.K302N|NET1_uc010qas.1_Missense_Mutation_p.K175N	p.K356N	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN			10	1206	+			356			DH.		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	ENST00000355029.4	37	c.1068G>C	CCDS41483.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572464	0.45798	.	.	ENSG00000173848	ENST00000355029;ENST00000542715;ENST00000380359	T;T;T	0.68479	-0.33;1.55;-0.33	5.56	4.66	0.58398	Dbl homology (DH) domain (3);	0.000000	0.43919	D	0.000503	T	0.60104	0.2243	L	0.53671	1.685	0.80722	D	1	B;B	0.22983	0.078;0.078	B;B	0.19946	0.022;0.027	T	0.60530	-0.7245	10	0.72032	D	0.01	-22.0837	9.518	0.39117	0.1604:0.0:0.8396:0.0	.	302;356	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	N	356;175;302	ENSP00000347134:K356N;ENSP00000446452:K175N;ENSP00000369717:K302N	ENSP00000347134:K356N	K	+	3	2	NET1	5486952	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.756000	0.62205	1.352000	0.45808	0.655000	0.94253	AAG		PASS	0.428	NET1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046553.3	NM_005863		3	84	3	84	---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24783456	24783456	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:24783456G>A	ENST00000376454.3	+	7	1737	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q	KIAA1217_ENST00000376451.2_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Silent_p.Q489Q	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	569					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)		p.Q569Q(1)		breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGGAGAAACAGATTGCCAGTT	0.413																																						uc001iru.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)	7						c.(1705-1707)CAG>CAA		sickle tail isoform 1							108.0	101.0	104.0					10																	24783456		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24783456G>A	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.1707G>A	10.37:g.24783456G>A						KIAA1217_uc001irs.2_Silent_p.Q489Q|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irv.1_Intron|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Intron|KIAA1217_uc001iry.2_Intron	p.Q569Q	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN			7	2110	+			569			Potential.		A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.1707G>A	CCDS31165.1																																																																																				PASS	0.413	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		5	80	5	80	---	---	---	---
LYZL2	119180	broad.mit.edu	37	10	30915842	30915842	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:30915842C>A	ENST00000375318.2	-	2	197	c.141G>T	c.(139-141)atG>atT	p.M47I		NM_183058.2	NP_898881.2	Q7Z4W2	LYZL2_HUMAN	lysozyme-like 2	1					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.M47I(1)		NS(2)|central_nervous_system(1)|large_intestine(1)|lung(14)|prostate(1)	19		Prostate(175;0.151)				CCGCAGCCTTCATCCTCAAAG	0.537																																						uc001ivk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(139-141)ATG>ATT		lysozyme-like 2							54.0	60.0	58.0					10																	30915842		2203	4297	6500	SO:0001583	missense	119180				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr10:30915842C>A	AF139543	CCDS7167.2	10p11.23	2009-12-04			ENSG00000151033	ENSG00000151033			29613	protein-coding gene	gene with protein product		612748					Standard	NM_183058		Approved		uc001ivk.3	Q7Z4W2	OTTHUMG00000017898	ENST00000375318.2:c.141G>T	10.37:g.30915842C>A	ENSP00000364467:p.Met47Ile						p.M47I	NM_183058	NP_898881	Q7Z4W2	LYZL2_HUMAN			2	154	-		Prostate(175;0.151)	1					Q6NZ69	Missense_Mutation	SNP	ENST00000375318.2	37	c.141G>T	CCDS7167.2	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893043	0.52121	.	.	ENSG00000151033	ENST00000375318	T	0.66995	-0.24	2.17	2.17	0.27698	.	0.000000	0.64402	D	0.000002	T	0.75953	0.3920	.	.	.	0.28033	N	0.93406	D	0.65815	0.995	D	0.69824	0.966	T	0.66240	-0.5973	9	0.87932	D	0	-18.0635	7.9502	0.30010	0.0:1.0:0.0:0.0	.	47	Q7Z4W2-2	.	I	47	ENSP00000364467:M47I	ENSP00000364467:M47I	M	-	3	0	LYZL2	30955848	1.000000	0.71417	0.944000	0.38274	0.204000	0.24138	3.388000	0.52509	1.515000	0.48885	0.306000	0.20318	ATG		PASS	0.537	LYZL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047434.1	NM_183058		5	78	5	78	---	---	---	---
RASGEF1A	221002	broad.mit.edu	37	10	43695154	43695154	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:43695154C>G	ENST00000395809.1	-	7	3325	c.819G>C	c.(817-819)ctG>ctC	p.L273L	RASGEF1A_ENST00000395810.1_Silent_p.L273L|RASGEF1A_ENST00000472864.1_5'Flank|RASGEF1A_ENST00000374459.1_Silent_p.L281L			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	273	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.L220L(1)|p.L273L(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						CCAGCATGCTCAGGCAGTTGA	0.617																																						uc001jap.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(817-819)CTG>CTC		RasGEF domain family, member 1A							110.0	79.0	89.0					10																	43695154		2203	4300	6503	SO:0001819	synonymous_variant	221002				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity	g.chr10:43695154C>G	AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.819G>C	10.37:g.43695154C>G						RASGEF1A_uc001jao.1_Silent_p.L281L	p.L273L	NM_145313	NP_660356	Q8N9B8	RGF1A_HUMAN			7	900	-			273			Ras-GEF.		Q8TBF1	Silent	SNP	ENST00000395809.1	37	c.819G>C	CCDS7202.2	.	.	.	.	.	.	.	.	.	.	C	9.560	1.118139	0.20877	.	.	ENSG00000198915	ENST00000374455	.	.	.	5.1	1.8	0.24995	.	.	.	.	.	T	0.46580	0.1400	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28235	-1.0050	4	.	.	.	.	4.3617	0.11205	0.1898:0.2976:0.428:0.0846	.	.	.	.	Q	175	.	.	E	-	1	0	RASGEF1A	43015160	0.939000	0.31865	1.000000	0.80357	0.999000	0.98932	-0.022000	0.12480	0.489000	0.27749	0.655000	0.94253	GAG		PASS	0.617	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313989.1	NM_145313		6	41	6	41	---	---	---	---
C10orf107	219621	broad.mit.edu	37	10	63519826	63519826	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:63519826G>C	ENST00000330194.2	+	5	603	c.298G>C	c.(298-300)Gag>Cag	p.E100Q		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	100								p.E100Q(1)		breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					GCAAGTGATAGAGGTTGTCAA	0.413																																						uc010qik.1																			1	Substitution - Missense(1)		lung(1)		0						c.(298-300)GAG>CAG		hypothetical protein LOC219621							108.0	102.0	104.0					10																	63519826		2203	4300	6503	SO:0001583	missense	219621							g.chr10:63519826G>C	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.298G>C	10.37:g.63519826G>C	ENSP00000328698:p.Glu100Gln						p.E100Q	NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN			5	603	+	Prostate(12;0.016)		100					Q5T1B8	Missense_Mutation	SNP	ENST00000330194.2	37	c.298G>C	CCDS7262.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161886	0.78226	.	.	ENSG00000183346	ENST00000330194	.	.	.	5.58	5.58	0.84498	.	0.194962	0.40222	N	0.001151	T	0.80199	0.4579	M	0.78637	2.42	0.37172	D	0.903104	D	0.89917	1.0	D	0.87578	0.998	D	0.84478	0.0603	9	0.72032	D	0.01	-14.6356	17.3402	0.87293	0.0:0.0:1.0:0.0	.	100	Q8IVU9	CJ107_HUMAN	Q	100	.	ENSP00000328698:E100Q	E	+	1	0	C10orf107	63189832	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.010000	0.70753	2.616000	0.88540	0.655000	0.94253	GAG		PASS	0.413	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		10	66	10	66	---	---	---	---
SUPV3L1	6832	broad.mit.edu	37	10	70960210	70960210	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:70960210C>T	ENST00000359655.4	+	11	1533	c.1473C>T	c.(1471-1473)ctC>ctT	p.L491L		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	491	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.L491L(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGAAGATCTCAGTTTATTAA	0.433																																						uc001jpe.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)|ovary(1)	2						c.(1471-1473)CTC>CTT		suppressor of var1, 3-like 1 precursor							87.0	89.0	88.0					10																	70960210		2203	4300	6503	SO:0001819	synonymous_variant	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70960210C>T	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1473C>T	10.37:g.70960210C>T						SUPV3L1_uc010qjd.1_Silent_p.L360L	p.L491L	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			11	1528	+			491			Helicase C-terminal.		A8K301|O43630	Silent	SNP	ENST00000359655.4	37	c.1473C>T	CCDS7287.1																																																																																				PASS	0.433	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		5	64	5	64	---	---	---	---
SUPV3L1	6832	broad.mit.edu	37	10	70967669	70967669	+	Missense_Mutation	SNP	G	G	C	rs150112121		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:70967669G>C	ENST00000359655.4	+	14	1957	c.1897G>C	c.(1897-1899)Gat>Cat	p.D633H		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	633					ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)	p.D633H(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGCTGTCCACGATGTCTTGGA	0.383																																						uc001jpe.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|ovary(1)	2						c.(1897-1899)GAT>CAT		suppressor of var1, 3-like 1 precursor							176.0	168.0	171.0					10																	70967669		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70967669G>C	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.1897G>C	10.37:g.70967669G>C	ENSP00000352678:p.Asp633His					SUPV3L1_uc010qjd.1_Missense_Mutation_p.D502H	p.D633H	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			14	1952	+			633					A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.1897G>C	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224292	0.79576	.	.	ENSG00000156502	ENST00000359655	T	0.32023	1.47	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62877	-0.6761	10	0.72032	D	0.01	3.7845	19.1865	0.93645	0.0:0.0:1.0:0.0	.	633	Q8IYB8	SUV3_HUMAN	H	633	ENSP00000352678:D633H	ENSP00000352678:D633H	D	+	1	0	SUPV3L1	70637675	1.000000	0.71417	0.995000	0.50966	0.655000	0.38815	9.425000	0.97467	2.619000	0.88677	0.655000	0.94253	GAT		PASS	0.383	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		14	188	14	188	---	---	---	---
MSS51	118490	broad.mit.edu	37	10	75184893	75184893	+	Missense_Mutation	SNP	G	G	A	rs137962387		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:75184893G>A	ENST00000372912.1	-	5	1128	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	MSS51_ENST00000299432.2_Missense_Mutation_p.R376C			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	376					social behavior (GO:0035176)		metal ion binding (GO:0046872)	p.R376C(1)									TTATAGTCACGAAGTAGCAGC	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		17644	0.0		0.001	False		,,,				2504	0.0					uc001jud.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1126-1128)CGT>TGT		zinc finger, MYND domain containing 17		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	99.0	98.0		1126	3.5	1.0	10	dbSNP_134	98	0,8600		0,0,4300	no	missense	ZMYND17	NM_001024593.1	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	376/461	75184893	1,13005	2203	4300	6503	SO:0001583	missense	118490						zinc ion binding	g.chr10:75184893G>A	AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.1126C>T	10.37:g.75184893G>A	ENSP00000362003:p.Arg376Cys					ZMYND17_uc001juc.2_Missense_Mutation_p.R376C|ZMYND17_uc009xrh.2_Missense_Mutation_p.R399C|ZMYND17_uc009xrg.2_Missense_Mutation_p.R155C	p.R376C	NM_001024593	NP_001019764	Q4VC12	ZMY17_HUMAN			6	1192	-	Prostate(51;0.0119)		376					A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	c.1126C>T	CCDS31221.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	19.33	3.806208	0.70682	2.27E-4	0.0	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.46819	0.86;0.86	5.32	3.47	0.39725	.	0.054647	0.64402	D	0.000001	T	0.41073	0.1143	M	0.65498	2.005	0.49130	D	0.999758	P;B	0.36048	0.534;0.263	B;B	0.26202	0.067;0.031	T	0.41662	-0.9496	10	0.72032	D	0.01	-2.7816	10.1958	0.43054	0.1621:0.0:0.8379:0.0	.	155;376	Q4VC12-2;Q4VC12	.;ZMY17_HUMAN	C	376	ENSP00000299432:R376C;ENSP00000362003:R376C	ENSP00000299432:R376C	R	-	1	0	ZMYND17	74854899	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.147000	0.50639	0.819000	0.34492	0.650000	0.86243	CGT		PASS	0.413	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3	NM_178451		8	99	8	99	---	---	---	---
CDHR1	92211	broad.mit.edu	37	10	85956342	85956342	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:85956342G>C	ENST00000372117.3	+	3	336	c.233G>C	c.(232-234)aGa>aCa	p.R78T	CDHR1_ENST00000332904.3_Missense_Mutation_p.R78T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	78	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)	p.R78T(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CCCAGCACTAGAAGCGTCTTT	0.557																																						uc001kcv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(232-234)AGA>ACA		protocadherin 21 precursor							145.0	127.0	133.0					10																	85956342		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85956342G>C	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.233G>C	10.37:g.85956342G>C	ENSP00000361189:p.Arg78Thr					CDHR1_uc001kcw.2_Missense_Mutation_p.R78T	p.R78T	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN			3	233	+			78			Cadherin 1.|Extracellular (Potential).		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.233G>C	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128885	0.56721	.	.	ENSG00000148600	ENST00000332904;ENST00000372117	T;T	0.51574	0.7;0.7	5.57	5.57	0.84162	Cadherin (4);Cadherin-like (1);	0.097154	0.64402	D	0.000001	T	0.44850	0.1313	L	0.52011	1.625	0.80722	D	1	B;B	0.27951	0.162;0.195	B;B	0.37387	0.069;0.248	T	0.25710	-1.0124	10	0.13853	T	0.58	-20.138	11.763	0.51914	0.0819:0.0:0.9181:0.0	.	78;78	Q96JP9-2;Q96JP9	.;CDHR1_HUMAN	T	78	ENSP00000331063:R78T;ENSP00000361189:R78T	ENSP00000331063:R78T	R	+	2	0	CDHR1	85946322	1.000000	0.71417	0.685000	0.30070	0.573000	0.36030	5.108000	0.64609	2.630000	0.89119	0.561000	0.74099	AGA		PASS	0.557	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		7	116	7	116	---	---	---	---
OPALIN	93377	broad.mit.edu	37	10	98105744	98105744	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:98105744C>G	ENST00000371172.3	-	6	785	c.380G>C	c.(379-381)aGa>aCa	p.R127T	OPALIN_ENST00000536387.1_Missense_Mutation_p.R117T|OPALIN_ENST00000393870.2_Missense_Mutation_p.R116T|OPALIN_ENST00000393871.1_Missense_Mutation_p.R104T|OPALIN_ENST00000419479.1_Missense_Mutation_p.R117T	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	127						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R117T(1)|p.R127T(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TCCCCTCCTTCTTTCCATTTC	0.517																																						uc001kmj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(379-381)AGA>ACA		transmembrane protein 10 isoform a							164.0	141.0	149.0					10																	98105744		2203	4300	6503	SO:0001583	missense	93377					Golgi apparatus|integral to membrane|plasma membrane		g.chr10:98105744C>G	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"""transmembrane protein 10"""	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.380G>C	10.37:g.98105744C>G	ENSP00000360214:p.Arg127Thr					OPALIN_uc010qor.1_Missense_Mutation_p.R117T|OPALIN_uc001kmi.2_Missense_Mutation_p.R117T|OPALIN_uc001kmk.2_Missense_Mutation_p.R104T|OPALIN_uc010qos.1_RNA	p.R127T	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN			6	819	-			127					A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	ENST00000371172.3	37	c.380G>C	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.343145	0.61073	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	4.12	3.21	0.36854	.	0.115012	0.39407	N	0.001372	T	0.47340	0.1440	L	0.34521	1.04	0.28962	N	0.889763	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.80764	0.994;0.994;0.917	T	0.30707	-0.9969	9	0.87932	D	0	-19.7344	7.0624	0.25133	0.0:0.8796:0.0:0.1204	.	104;127;117	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	T	127;104;117;116;117	.	ENSP00000360214:R127T	R	-	2	0	OPALIN	98095734	0.995000	0.38212	0.749000	0.31150	0.893000	0.52053	1.825000	0.39081	2.293000	0.77203	0.650000	0.86243	AGA		PASS	0.517	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207		10	160	10	160	---	---	---	---
FAM175B	23172	broad.mit.edu	37	10	126523297	126523297	+	Silent	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:126523297A>G	ENST00000298492.5	+	9	1050	c.1005A>G	c.(1003-1005)caA>caG	p.Q335Q		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	335					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)	p.Q335Q(1)		NS(1)	1						CTCGACCTCAAGCTGTGGGCT	0.522																																						uc001lib.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1003-1005)CAA>CAG		hypothetical protein LOC23172							104.0	92.0	96.0					10																	126523297		2203	4300	6503	SO:0001819	synonymous_variant	23172					BRISC complex	polyubiquitin binding	g.chr10:126523297A>G	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.1005A>G	10.37:g.126523297A>G							p.Q335Q	NM_032182	NP_115558	Q15018	F175B_HUMAN			9	1050	+			335					B4DKR2|Q96H11	Silent	SNP	ENST00000298492.5	37	c.1005A>G	CCDS31308.2																																																																																				PASS	0.522	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		10	46	10	46	---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129902207	129902207	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr10:129902207G>C	ENST00000368654.3	-	13	8272	c.7897C>G	c.(7897-7899)Cac>Gac	p.H2633D	MKI67_ENST00000368653.3_Missense_Mutation_p.H2273D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.H2633D(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GGTTCTTTGTGTGTGTGTGTG	0.502																																						uc001lke.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(7897-7899)CAC>GAC		antigen identified by monoclonal antibody Ki-67							170.0	156.0	161.0					10																	129902207		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129902207G>C	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.7897C>G	10.37:g.129902207G>C	ENSP00000357643:p.His2633Asp					MKI67_uc001lkf.2_Missense_Mutation_p.H2273D|MKI67_uc009yav.1_Missense_Mutation_p.H2208D|MKI67_uc009yaw.1_Missense_Mutation_p.H1783D	p.H2633D	NM_002417	NP_002408	P46013	KI67_HUMAN			13	8092	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2633			14.|16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.7897C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307611	0.23821	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02067	4.47;4.47	3.12	-0.0321	0.13906	.	2.609730	0.01573	N	0.020695	T	0.02418	0.0074	N	0.11427	0.14	0.09310	N	1	B;P;P	0.52692	0.041;0.936;0.955	B;B;P	0.51615	0.019;0.351;0.675	T	0.44498	-0.9324	10	0.12766	T	0.61	.	4.9802	0.14160	0.1296:0.4303:0.4401:0.0	.	2632;2273;2633	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	D	2633;2273;2632	ENSP00000357643:H2633D;ENSP00000357642:H2273D	ENSP00000357642:H2273D	H	-	1	0	MKI67	129792197	.	.	0.000000	0.03702	0.007000	0.05969	.	.	-0.006000	0.14370	-0.302000	0.09304	CAC		PASS	0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		7	127	7	127	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	607998	607998	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:607998G>A	ENST00000264555.5	+	14	2670	c.2542G>A	c.(2542-2544)Gag>Aag	p.E848K	PHRF1_ENST00000533464.1_Missense_Mutation_p.E844K|PHRF1_ENST00000416188.2_Missense_Mutation_p.E847K|PHRF1_ENST00000413872.2_Missense_Mutation_p.E846K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	848					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)	p.E853K(1)|p.E848K(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAGCAGCCCCGAGAGGTCTGG	0.662																																						uc001lqe.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2542-2544)GAG>AAG		PHD and ring finger domains 1							49.0	59.0	55.0					11																	607998		2000	4157	6157	SO:0001583	missense	57661						RNA polymerase binding|zinc ion binding	g.chr11:607998G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2542G>A	11.37:g.607998G>A	ENSP00000264555:p.Glu848Lys					PHRF1_uc010qwc.1_Missense_Mutation_p.E847K|PHRF1_uc010qwd.1_Missense_Mutation_p.E846K|PHRF1_uc010qwe.1_Missense_Mutation_p.E844K|PHRF1_uc009ybz.1_Missense_Mutation_p.E638K|PHRF1_uc009yca.1_RNA	p.E848K	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN			14	2673	+			848					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.2542G>A		.	.	.	.	.	.	.	.	.	.	G	20.3	3.973996	0.74246	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	D;D;D;D	0.90444	-2.65;-2.67;-2.66;-2.66	4.98	4.98	0.66077	.	0.000000	0.41938	D	0.000783	D	0.94125	0.8116	L	0.55990	1.75	0.51767	D	0.999931	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.985;0.993;0.993;0.985	D	0.94814	0.7981	10	0.87932	D	0	-40.7964	18.2726	0.90073	0.0:0.0:1.0:0.0	.	844;846;847;848	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	K	848;846;847;844	ENSP00000264555:E848K;ENSP00000388589:E846K;ENSP00000410626:E847K;ENSP00000431870:E844K	ENSP00000264555:E848K	E	+	1	0	PHRF1	597998	1.000000	0.71417	0.458000	0.27068	0.064000	0.16182	8.196000	0.89725	2.308000	0.77769	0.484000	0.47621	GAG		PASS	0.662	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		7	119	7	119	---	---	---	---
TNNT3	7140	broad.mit.edu	37	11	1955618	1955618	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:1955618G>A	ENST00000397301.1	+	13	464	c.456G>A	c.(454-456)ctG>ctA	p.L152L	TNNT3_ENST00000446240.1_Silent_p.L122L|TNNT3_ENST00000381579.3_Silent_p.L133L|TNNT3_ENST00000381558.1_Silent_p.L133L|TNNT3_ENST00000278317.6_Silent_p.L141L|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381549.3_Silent_p.L133L|TNNT3_ENST00000381548.3_Silent_p.L143L|TNNT3_ENST00000381589.3_Silent_p.L139L|TNNT3_ENST00000381561.4_Silent_p.L144L|TNNT3_ENST00000397304.2_Silent_p.L122L|TNNT3_ENST00000360603.3_Silent_p.L135L			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	152					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.L141L(1)|p.L139L(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGGACGACCTGAAGAAGAAGA	0.587																																						uc001luu.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(421-423)CTG>CTA		troponin T3, skeletal, fast isoform 1							112.0	106.0	108.0					11																	1955618		2202	4298	6500	SO:0001819	synonymous_variant	7140				muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	g.chr11:1955618G>A	M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.456G>A	11.37:g.1955618G>A						TNNT3_uc001lun.2_Silent_p.L37L|TNNT3_uc001luw.3_Silent_p.L133L|TNNT3_uc001luo.3_Silent_p.L133L|TNNT3_uc001lup.3_Silent_p.L139L|TNNT3_uc001luq.3_Silent_p.L133L|TNNT3_uc001lur.2_Silent_p.L133L|TNNT3_uc010qxf.1_Silent_p.L139L|TNNT3_uc010qxg.1_Silent_p.L73L	p.L141L	NM_006757	NP_006748	P45378	TNNT3_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)	12	635	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	152					A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Silent	SNP	ENST00000397301.1	37	c.423G>A																																																																																					PASS	0.587	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3	NM_006757		4	60	4	60	---	---	---	---
TSSC4	10078	broad.mit.edu	37	11	2424480	2424480	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:2424480C>G	ENST00000333256.6	+	3	1060	c.617C>G	c.(616-618)tCc>tGc	p.S206C	TSSC4_ENST00000467308.1_Intron|TSSC4_ENST00000451491.2_Missense_Mutation_p.S206C|TSSC4_ENST00000380996.5_Missense_Mutation_p.S142C|AC124057.5_ENST00000433035.1_RNA|TSSC4_ENST00000380992.1_Intron			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	206								p.S206C(1)		endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGATCCCTCCAGCTGTGGG	0.652																																						uc001lwj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(616-618)TCC>TGC		tumor suppressing subtransferable candidate 4							47.0	48.0	48.0					11																	2424480		2202	4298	6500	SO:0001583	missense	10078							g.chr11:2424480C>G	AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.617C>G	11.37:g.2424480C>G	ENSP00000331087:p.Ser206Cys					TSSC4_uc001lwi.2_Missense_Mutation_p.S142C|TSSC4_uc001lwk.2_Missense_Mutation_p.S206C|TSSC4_uc001lwl.2_Missense_Mutation_p.S206C	p.S206C	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)	4	978	+		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)	206					C9JS66|Q86VL2|Q9BRS6	Missense_Mutation	SNP	ENST00000333256.6	37	c.617C>G	CCDS7735.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375432	0.61735	.	.	ENSG00000184281	ENST00000380996;ENST00000333256;ENST00000440813;ENST00000451491	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	3.67	3.67	0.42095	.	0.255861	0.32655	U	0.005820	T	0.67363	0.2885	M	0.74881	2.28	0.40286	D	0.978452	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.74429	-0.3668	10	0.87932	D	0	-23.1611	14.9158	0.70795	0.0:1.0:0.0:0.0	.	206;142	Q9Y5U2;Q9Y5U2-2	TSSC4_HUMAN;.	C	142;206;142;206	ENSP00000370384:S142C;ENSP00000331087:S206C;ENSP00000416937:S142C;ENSP00000411224:S206C	ENSP00000331087:S206C	S	+	2	0	TSSC4	2381056	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	2.384000	0.44362	2.079000	0.62486	0.462000	0.41574	TCC		PASS	0.652	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027369.3	NM_005706		4	83	4	83	---	---	---	---
SLC17A6	57084	broad.mit.edu	37	11	22364891	22364891	+	Silent	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:22364891G>T	ENST00000263160.3	+	3	875	c.438G>T	c.(436-438)gcG>gcT	p.A146A		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	146					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.A146A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCTACATCGCGTCTCGGCTGG	0.587																																						uc001mqk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(436-438)GCG>GCT		solute carrier family 17 (sodium-dependent							61.0	64.0	63.0					11																	22364891		2203	4300	6503	SO:0001819	synonymous_variant	57084				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr11:22364891G>T	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.438G>T	11.37:g.22364891G>T							p.A146A	NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN			3	851	+			146			Helical; (Potential).		A6NKS2	Silent	SNP	ENST00000263160.3	37	c.438G>T	CCDS7856.1																																																																																				PASS	0.587	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346		19	91	19	91	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418443	55418443	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:55418443G>C	ENST00000312422.2	+	1	64	c.64G>C	c.(64-66)Gag>Cag	p.E22Q		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E22Q(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CCCAGAGATTGAGAAAGTTTG	0.378																																						uc001nhs.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(64-66)GAG>CAG		olfactory receptor, family 4, subfamily S,							92.0	80.0	84.0					11																	55418443		2180	4016	6196	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418443G>C	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.64G>C	11.37:g.55418443G>C	ENSP00000310337:p.Glu22Gln						p.E22Q	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	64	+		all_epithelial(135;0.0748)	22			Extracellular (Potential).		Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.64G>C	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.171683	0.00315	.	.	ENSG00000174982	ENST00000312422	T	0.00216	8.53	5.36	0.758	0.18432	.	0.244822	0.28504	N	0.015106	T	0.00039	0.0001	N	0.01352	-0.895	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.32534	-0.9903	10	0.02654	T	1	.	7.659	0.28392	0.1632:0.3984:0.4385:0.0	.	22	Q8NH73	OR4S2_HUMAN	Q	22	ENSP00000310337:E22Q	ENSP00000310337:E22Q	E	+	1	0	OR4S2	55175019	0.042000	0.20092	0.003000	0.11579	0.256000	0.26092	0.463000	0.21972	0.592000	0.29728	0.549000	0.68633	GAG		PASS	0.378	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		8	66	8	66	---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62290416	62290416	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:62290416C>A	ENST00000378024.4	-	5	11747	c.11473G>T	c.(11473-11475)Gat>Tat	p.D3825Y	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3825					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.D3825Y(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)				AGGTTCACATCCACATCTGGG	0.517																																						uc001ntl.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19						c.(11473-11475)GAT>TAT		AHNAK nucleoprotein isoform 1							201.0	209.0	206.0					11																	62290416		2202	4296	6498	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62290416C>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.11473G>T	11.37:g.62290416C>A	ENSP00000367263:p.Asp3825Tyr					AHNAK_uc001ntk.1_Intron	p.D3825Y	NM_001620	NP_001611	Q09666	AHNK_HUMAN			5	11773	-		Melanoma(852;0.155)	3825					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.11473G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	19.63	3.864263	0.71949	.	.	ENSG00000124942	ENST00000378024	T	0.02085	4.46	4.61	4.61	0.57282	.	0.000000	0.42172	D	0.000742	T	0.22282	0.0537	H	0.96748	3.875	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	T	0.42749	-0.9433	10	0.72032	D	0.01	.	17.4193	0.87510	0.0:1.0:0.0:0.0	.	3825	Q09666	AHNK_HUMAN	Y	3825	ENSP00000367263:D3825Y	ENSP00000367263:D3825Y	D	-	1	0	AHNAK	62046992	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	3.092000	0.50207	2.288000	0.76882	0.543000	0.68304	GAT		PASS	0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	414	8	414	---	---	---	---
TAF6L	10629	broad.mit.edu	37	11	62554633	62554633	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:62554633C>G	ENST00000294168.3	+	11	1935	c.1734C>G	c.(1732-1734)ttC>ttG	p.F578L	TMEM223_ENST00000527073.1_Intron|RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000333449.4_5'Flank|TMEM179B_ENST00000533861.1_5'Flank	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	578					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.F578L(1)		endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						GGCGCCTTTTCCAGACTGCCT	0.711											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001nvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1732-1734)TTC>TTG		TAF6-like RNA polymerase II							4.0	6.0	5.0					11																	62554633		1868	3957	5825	SO:0001583	missense	10629				chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity	g.chr11:62554633C>G	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1734C>G	11.37:g.62554633C>G	ENSP00000294168:p.Phe578Leu		OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1062	TMEM179B_uc001nvd.3_5'Flank	p.F578L	NM_006473	NP_006464	Q9Y6J9	TAF6L_HUMAN			11	1835	+			578					B2RAT0|Q96HA6	Missense_Mutation	SNP	ENST00000294168.3	37	c.1734C>G	CCDS8035.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523315	0.85600	.	.	ENSG00000162227	ENST00000294168	T	0.60040	0.22	4.85	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.27053	0.805	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.60944	-0.7162	10	0.87932	D	0	-8.5195	6.6646	0.23032	0.0:0.7871:0.0:0.2129	.	578	Q9Y6J9	TAF6L_HUMAN	L	578	ENSP00000294168:F578L	ENSP00000294168:F578L	F	+	3	2	TAF6L	62311209	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	0.898000	0.28404	1.224000	0.43551	0.484000	0.47621	TTC		PASS	0.711	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395352.1	NM_006473		3	18	3	18	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64514192	64514192	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:64514192C>A	ENST00000164139.3	-	20	2866	c.2468G>T	c.(2467-2469)cGg>cTg	p.R823L	RASGRP2_ENST00000377486.3_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|PYGM_ENST00000377432.3_Missense_Mutation_p.R735L|RASGRP2_ENST00000377487.1_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000377494.1_5'Flank|RASGRP2_ENST00000394432.3_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377497.3_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	823					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.R823L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCAGATCTCCCGGGCATACTG	0.617																																						uc001oax.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2467-2469)CGG>CTG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						88.0	88.0	88.0					11																	64514192		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64514192C>A		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2468G>T	11.37:g.64514192C>A	ENSP00000164139:p.Arg823Leu					RASGRP2_uc009ypu.2_5'Flank|RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R735L	p.R823L	NM_005609	NP_005600	P11217	PYGM_HUMAN			20	3285	-			823					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.2468G>T	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.445515	0.63178	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93659	-3.13;-3.26	4.39	3.47	0.39725	.	0.000000	0.42420	D	0.000712	D	0.94440	0.8211	M	0.93594	3.435	0.58432	D	0.999999	B;B	0.31435	0.323;0.313	B;B	0.34301	0.164;0.179	D	0.93623	0.6949	10	0.66056	D	0.02	-19.0258	10.4254	0.44375	0.0:0.9026:0.0:0.0974	.	735;823	A6NDY6;P11217	.;PYGM_HUMAN	L	735;823;804	ENSP00000366650:R735L;ENSP00000164139:R823L	ENSP00000164139:R823L	R	-	2	0	PYGM	64270768	0.961000	0.32948	0.996000	0.52242	0.982000	0.71751	2.073000	0.41519	1.069000	0.40788	0.462000	0.41574	CGG		PASS	0.617	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		12	90	12	90	---	---	---	---
RNF121	55298	broad.mit.edu	37	11	71668300	71668300	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:71668300G>C	ENST00000361756.3	+	2	452	c.91G>C	c.(91-93)Gag>Cag	p.E31Q	RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Intron|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000545854.1_Intron|RNF121_ENST00000530137.1_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	31						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E31Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						CTCTCCAGAAGAGCAATGGAG	0.443																																						uc001ora.2																			1	Substitution - Missense(1)		lung(1)		0						c.(91-93)GAG>CAG		ring finger protein 121							171.0	162.0	165.0					11																	71668300		2200	4293	6493	SO:0001583	missense	55298					integral to membrane	zinc ion binding	g.chr11:71668300G>C	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.91G>C	11.37:g.71668300G>C	ENSP00000354571:p.Glu31Gln					RNF121_uc001ord.2_Intron|RNF121_uc001orb.2_Intron|RNF121_uc009yst.2_Intron	p.E31Q	NM_018320	NP_060790	Q9H920	RN121_HUMAN			2	431	+			31					B3KSW8|Q6IA57|Q6P449|Q96DB4	Missense_Mutation	SNP	ENST00000361756.3	37	c.91G>C	CCDS8203.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729309	0.69074	.	.	ENSG00000137522	ENST00000361756	T	0.43294	0.95	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.53932	0.1827	M	0.63843	1.955	0.80722	D	1	D	0.59357	0.985	P	0.54590	0.756	T	0.52997	-0.8500	10	0.40728	T	0.16	.	15.4411	0.75184	0.0:0.0:1.0:0.0	.	31	Q9H920	RN121_HUMAN	Q	31	ENSP00000354571:E31Q	ENSP00000354571:E31Q	E	+	1	0	RNF121	71345948	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	8.201000	0.89735	2.506000	0.84524	0.467000	0.42956	GAG		PASS	0.443	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		17	104	17	104	---	---	---	---
C2CD3	26005	broad.mit.edu	37	11	73801934	73801934	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:73801934C>G	ENST00000334126.7	-	20	3791	c.3565G>C	c.(3565-3567)Gag>Cag	p.E1189Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1189Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1189	C2 1.				brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.E1189Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					AGAACTCCCTCTGCTGTTCTT	0.493																																						uc001ouu.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(2)|skin(1)	7						c.(3565-3567)GAG>CAG		C2 calcium-dependent domain containing 3							122.0	99.0	106.0					11																	73801934		2200	4293	6493	SO:0001583	missense	26005					centrosome		g.chr11:73801934C>G	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.3565G>C	11.37:g.73801934C>G	ENSP00000334379:p.Glu1189Gln						p.E1189Q	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN			20	3792	-	Breast(11;4.16e-06)		1189			C2 1.		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37	c.3565G>C		.	.	.	.	.	.	.	.	.	.	C	14.72	2.618333	0.46736	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.10573	2.86;2.87	5.58	4.65	0.58169	.	0.399332	0.27004	N	0.021407	T	0.11367	0.0277	L	0.44542	1.39	0.27878	N	0.939793	P	0.51537	0.946	P	0.47645	0.553	T	0.11060	-1.0603	10	0.23302	T	0.38	-9.1319	6.5043	0.22186	0.0:0.703:0.1755:0.1214	.	1189	Q4AC94-1	.	Q	1189	ENSP00000334379:E1189Q;ENSP00000323339:E1189Q	ENSP00000323339:E1189Q	E	-	1	0	C2CD3	73479582	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	3.226000	0.51254	1.316000	0.45131	0.484000	0.47621	GAG		PASS	0.493	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531		9	61	9	61	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102826338	102826338	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:102826338C>T	ENST00000260302.3	-	1	125	c.97G>A	c.(97-99)Gag>Aag	p.E33K	MMP13_ENST00000340273.4_Missense_Mutation_p.E33K	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	33					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E33K(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AGGTCTTCCTCAGACAAATCA	0.498																																						uc001phl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(97-99)GAG>AAG		matrix metalloproteinase 13 preproprotein							114.0	101.0	105.0					11																	102826338		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826338C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.97G>A	11.37:g.102826338C>T	ENSP00000260302:p.Glu33Lys						p.E33K	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	1	125	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	33					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.97G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.730811	0.30684	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.35605	1.3;1.3	5.87	4.95	0.65309	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.918508	0.09480	N	0.796504	T	0.31827	0.0809	L	0.46670	1.46	0.38140	D	0.938438	B	0.13145	0.007	B	0.12156	0.007	T	0.20371	-1.0277	10	0.35671	T	0.21	.	7.7527	0.28907	0.0:0.7259:0.1422:0.1318	.	33	P45452	MMP13_HUMAN	K	33	ENSP00000260302:E33K;ENSP00000339672:E33K	ENSP00000260302:E33K	E	-	1	0	MMP13	102331548	0.052000	0.20516	0.979000	0.43373	0.620000	0.37586	1.165000	0.31822	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.498	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		4	91	4	91	---	---	---	---
KDELC2	143888	broad.mit.edu	37	11	108348418	108348418	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:108348418C>G	ENST00000323468.5	-	7	1379	c.1314G>C	c.(1312-1314)aaG>aaC	p.K438N	KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000434945.2_Missense_Mutation_p.K382N	NM_153705.4	NP_714916.3	Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	438						endoplasmic reticulum (GO:0005783)		p.K438N(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TTGCAATCTTCTTGGCTTCTT	0.413																																						uc001pkj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1312-1314)AAG>AAC		KDEL (Lys-Asp-Glu-Leu) containing 2 precursor							252.0	230.0	237.0					11																	108348418		1901	4127	6028	SO:0001583	missense	143888					endoplasmic reticulum lumen		g.chr11:108348418C>G	AF533708	CCDS41711.1	11q32	2010-11-18			ENSG00000178202	ENSG00000178202			28496	protein-coding gene	gene with protein product						12975309	Standard	NM_153705		Approved	MGC33424	uc001pkj.2	Q7Z4H8	OTTHUMG00000166535	ENST00000323468.5:c.1314G>C	11.37:g.108348418C>G	ENSP00000315386:p.Lys438Asn					KDELC2_uc001pki.2_Missense_Mutation_p.K382N	p.K438N	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)	7	1380	-		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	438					Q6UWW2|Q6ZUM9|Q8N7L8|Q8NE24	Missense_Mutation	SNP	ENST00000323468.5	37	c.1314G>C	CCDS41711.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.66|11.66	1.705368|1.705368	0.30232|0.30232	.|.	.|.	ENSG00000178202|ENSG00000178202	ENST00000530318|ENST00000323468;ENST00000434945	.|T;T	.|0.24538	.|1.85;1.85	4.1|4.1	4.1|4.1	0.47936|0.47936	.|.	.|0.376195	.|0.30093	.|N	.|0.010422	T|T	0.19886|0.19886	0.0478|0.0478	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	.|B;B	.|0.22604	.|0.072;0.024	.|B;B	.|0.26310	.|0.068;0.025	T|T	0.11616|0.11616	-1.0580|-1.0580	5|10	.|0.51188	.|T	.|0.08	-32.03|-32.03	4.8887|4.8887	0.13715|0.13715	0.0:0.746:0.0:0.254|0.0:0.746:0.0:0.254	.|.	.|438;382	.|Q7Z4H8;Q7Z4H8-2	.|KDEL2_HUMAN;.	Q|N	91|438;382	.|ENSP00000315386:K438N;ENSP00000413429:K382N	.|ENSP00000315386:K438N	E|K	-|-	1|3	0|2	KDELC2|KDELC2	107853628|107853628	0.041000|0.041000	0.20044|0.20044	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	0.174000|0.174000	0.16743|0.16743	2.573000|2.573000	0.86826|0.86826	0.462000|0.462000	0.41574|0.41574	GAA|AAG		PASS	0.413	KDELC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390273.1	NM_153705		15	136	15	136	---	---	---	---
ARHGAP20	57569	broad.mit.edu	37	11	110486303	110486303	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:110486303C>T	ENST00000260283.4	-	6	803	c.519G>A	c.(517-519)aaG>aaA	p.K173K	ARHGAP20_ENST00000533353.1_Silent_p.K147K|ARHGAP20_ENST00000527598.1_Silent_p.K137K|ARHGAP20_ENST00000524756.1_Silent_p.K150K|ARHGAP20_ENST00000528829.1_Silent_p.K137K|ARHGAP20_ENST00000357139.3_Silent_p.K147K	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	173	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.K173K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GCCATTTGTCCTTTTGTTCTG	0.313																																						uc001pkz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|kidney(2)	5						c.(517-519)AAG>AAA		Rho GTPase activating protein 20							44.0	49.0	47.0					11																	110486303		2200	4294	6494	SO:0001819	synonymous_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110486303C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.519G>A	11.37:g.110486303C>T						ARHGAP20_uc001pky.1_Silent_p.K150K|ARHGAP20_uc009yyb.1_Silent_p.K137K|ARHGAP20_uc001pla.1_Silent_p.K137K	p.K173K	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	6	804	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	173			PH.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Silent	SNP	ENST00000260283.4	37	c.519G>A	CCDS31673.1																																																																																				PASS	0.313	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		15	80	15	80	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117066728	117066728	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:117066728G>C	ENST00000324225.4	+	26	2976	c.2445G>C	c.(2443-2445)ctG>ctC	p.L815L	SIDT2_ENST00000532062.1_Silent_p.L107L|SIDT2_ENST00000431081.2_Silent_p.L812L	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	815					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)	p.L815L(2)		NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		AGGTGTTGCTGACACTGGATG	0.617																																						uc001pqh.1																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)		0						c.(2443-2445)CTG>CTC		SID1 transmembrane family, member 2 precursor							146.0	131.0	136.0					11																	117066728		2201	4296	6497	SO:0001819	synonymous_variant	51092					integral to membrane|lysosomal membrane		g.chr11:117066728G>C	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2445G>C	11.37:g.117066728G>C						SIDT2_uc001pqi.1_Silent_p.L812L|SIDT2_uc001pqj.1_Silent_p.L127L|uc001pqk.1_RNA	p.L815L	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	26	2486	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	815			Helical; (Potential).		Q8NBY7|Q9Y357	Silent	SNP	ENST00000324225.4	37	c.2445G>C	CCDS31682.1																																																																																				PASS	0.617	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		14	150	14	150	---	---	---	---
ABCG4	64137	broad.mit.edu	37	11	119030980	119030980	+	Missense_Mutation	SNP	C	C	T	rs201390504		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:119030980C>T	ENST00000449422.2	+	13	1669	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	ABCG4_ENST00000307417.3_Missense_Mutation_p.T494M|ABCG4_ENST00000531739.1_Missense_Mutation_p.T494M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	494	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T494M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TACTGGATGACGGGCCAGCCC	0.647																																						uc001pvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1480-1482)ACG>ATG		ATP-binding cassette, subfamily G, member 4		C	MET/THR,MET/THR	1,4399	2.1+/-5.4	0,1,2199	83.0	74.0	77.0		1481,1481	5.2	1.0	11		77	0,8590		0,0,4295	yes	missense,missense	ABCG4	NM_001142505.1,NM_022169.4	81,81	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	494/647,494/647	119030980	1,12989	2200	4295	6495	SO:0001583	missense	64137				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:119030980C>T	AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1481C>T	11.37:g.119030980C>T	ENSP00000406874:p.Thr494Met					ABCG4_uc009zar.2_Missense_Mutation_p.T494M	p.T494M	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	13	1817	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	494			Extracellular (Potential).|ABC transmembrane type-2.		A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	c.1481C>T	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	C	33	5.223466	0.95139	2.27E-4	0.0	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.73047	-0.71;-0.71;-0.71	5.2	5.2	0.72013	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86992	0.2111	10	0.87932	D	0	-9.1283	18.9923	0.92798	0.0:1.0:0.0:0.0	.	494	Q9H172	ABCG4_HUMAN	M	494	ENSP00000304111:T494M;ENSP00000406874:T494M;ENSP00000434318:T494M	ENSP00000304111:T494M	T	+	2	0	ABCG4	118536190	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	7.629000	0.83207	2.720000	0.93068	0.558000	0.71614	ACG		PASS	0.647	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1	NM_022169		18	91	18	91	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120745935	120745935	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:120745935A>G	ENST00000527524.2	+	11	1434	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	GRIK4_ENST00000438375.2_Missense_Mutation_p.R383G|RP11-640N11.2_ENST00000505153.2_RNA	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	383					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|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)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.R383G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		ACAGTTCACAAGGAATGGTTT	0.493																																						uc001pxn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1147-1149)AGG>GGG		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						119.0	100.0	106.0					11																	120745935		2203	4299	6502	SO:0001583	missense	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120745935A>G	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1147A>G	11.37:g.120745935A>G	ENSP00000435648:p.Arg383Gly					GRIK4_uc009zav.1_Missense_Mutation_p.R383G|GRIK4_uc009zaw.1_Missense_Mutation_p.R383G|GRIK4_uc009zax.1_Missense_Mutation_p.R383G	p.R383G	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	11	1434	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	383			Extracellular (Potential).		A8K9L1	Missense_Mutation	SNP	ENST00000527524.2	37	c.1147A>G	CCDS8433.1	.	.	.	.	.	.	.	.	.	.	a	12.56	1.973682	0.34848	.	.	ENSG00000149403	ENST00000527524;ENST00000438375	T;T	0.19394	2.15;2.15	5.8	5.8	0.92144	.	.	.	.	.	T	0.15219	0.0367	N	0.16903	0.455	0.19945	N	0.999945	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14448	-1.0472	9	0.44086	T	0.13	.	12.8411	0.57802	0.855:0.145:0.0:0.0	.	383;383	A6H8K8;Q16099	.;GRIK4_HUMAN	G	383	ENSP00000435648:R383G;ENSP00000404063:R383G	ENSP00000404063:R383G	R	+	1	2	GRIK4	120251145	0.996000	0.38824	0.904000	0.35570	0.977000	0.68977	3.610000	0.54125	2.205000	0.71048	0.529000	0.55759	AGG		PASS	0.493	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		9	56	9	56	---	---	---	---
ADAMTS8	11095	broad.mit.edu	37	11	130289067	130289067	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr11:130289067C>G	ENST00000257359.6	-	2	1547	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	281	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E281Q(1)|p.E310Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCGGACACCTCTGGGCCCCAT	0.557																																						uc001qgg.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(841-843)GAG>CAG		ADAM metallopeptidase with thrombospondin type 1							150.0	158.0	155.0					11																	130289067		1971	4166	6137	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130289067C>G	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.841G>C	11.37:g.130289067C>G	ENSP00000257359:p.Glu281Gln						p.E281Q	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1199	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	281			Peptidase M12B.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.841G>C	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604179	0.28534	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.86865	-2.18	5.62	4.71	0.59529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.348956	0.33382	N	0.004976	T	0.82167	0.4978	L	0.48260	1.515	0.36944	D	0.892517	B	0.28233	0.204	B	0.24848	0.056	T	0.80162	-0.1497	10	0.20519	T	0.43	.	14.2608	0.66083	0.0:0.9285:0.0:0.0715	.	281	Q9UP79	ATS8_HUMAN	Q	281;310	ENSP00000257359:E281Q	ENSP00000257359:E281Q	E	-	1	0	ADAMTS8	129794277	0.000000	0.05858	0.528000	0.27938	0.648000	0.38561	0.241000	0.18065	1.362000	0.46000	0.655000	0.94253	GAG		PASS	0.557	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		8	239	8	239	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2800327	2800327	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:2800327G>C	ENST00000347598.4	+	49	6523	c.6523G>C	c.(6523-6525)Gag>Cag	p.E2175Q	CACNA1C_ENST00000399638.1_Missense_Mutation_p.E2155Q|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E2133Q|CACNA1C_ENST00000399606.1_Missense_Mutation_p.E2147Q|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E2127Q|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E2146Q|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E2127Q|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E2198Q|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E2135Q|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E2127Q|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E2162Q|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E2152Q|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E2135Q|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E2162Q|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E2146Q|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E2127Q|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E2127Q|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E2146Q|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E2168Q|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E2198Q|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E2144Q|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E2127Q	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2210					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E2240Q(1)|p.E2168Q(1)|p.E2175Q(1)|p.E1662Q(1)|p.E2162Q(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGTGAGGAGGAGCTCCAGGA	0.607																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(6628-6630)GAG>CAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						24.0	32.0	29.0					12																	2800327		1954	4130	6084	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2800327G>C	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6523G>C	12.37:g.2800327G>C	ENSP00000266376:p.Glu2175Gln					CACNA1C_uc009zdv.1_Missense_Mutation_p.E2124Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.E2146Q|CACNA1C_uc001qke.2_Missense_Mutation_p.E2116Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.E2135Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.E2146Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.E2133Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.E2168Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.E2135Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.E2175Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qko.2_Missense_Mutation_p.E2147Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.E2144Q|CACNA1C_uc001qku.2_Missense_Mutation_p.E2162Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.E2155Q|CACNA1C_uc001qks.2_Missense_Mutation_p.E2127Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.E2146Q|CACNA1C_uc001qki.1_Missense_Mutation_p.E1934Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.E1898Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.E1863Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.E1923Q|CACNA1C_uc010sea.1_Missense_Mutation_p.E818Q|uc001qkx.1_5'Flank|CACNA1C_uc001qky.1_Missense_Mutation_p.E445Q	p.E2210Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	50	6941	+			2210			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.6628G>C	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278458	0.59758	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46;0.46	4.49	4.49	0.54785	.	0.349141	0.26746	N	0.022709	T	0.57431	0.2053	L	0.53249	1.67	0.41986	D	0.990823	P;B;B;B;B;B;B;P;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.36944	0.574;0.373;0.232;0.418;0.417;0.368;0.176;0.559;0.559;0.108;0.368;0.232;0.313;0.417;0.149;0.293;0.313;0.209;0.368;0.003;0.176;0.373;0.368;0.232;0.232	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.43478	0.421;0.246;0.063;0.147;0.311;0.226;0.073;0.311;0.311;0.067;0.131;0.063;0.227;0.311;0.029;0.165;0.227;0.068;0.131;0.006;0.049;0.1;0.131;0.063;0.063	T	0.63980	-0.6514	10	0.66056	D	0.02	.	17.7187	0.88344	0.0:0.0:1.0:0.0	.	818;2168;2124;2210;2162;2146;2127;2144;2155;2127;2147;2127;2158;2175;2127;2162;2198;2135;2133;2135;2116;2146;2146;2127;2127	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	2152;2127;2127;2155;2127;2146;2146;2135;2127;2175;2147;2127;2168;2144;2162;2133;2146;2127;2198;2162;2198;2135;2028	ENSP00000336982:E2152Q;ENSP00000382563:E2127Q;ENSP00000382552:E2127Q;ENSP00000382547:E2155Q;ENSP00000382506:E2127Q;ENSP00000382530:E2146Q;ENSP00000382546:E2146Q;ENSP00000382500:E2135Q;ENSP00000382549:E2127Q;ENSP00000266376:E2175Q;ENSP00000382515:E2147Q;ENSP00000382510:E2127Q;ENSP00000341092:E2168Q;ENSP00000382537:E2144Q;ENSP00000329877:E2162Q;ENSP00000382557:E2133Q;ENSP00000385724:E2146Q;ENSP00000382512:E2127Q;ENSP00000382542:E2198Q;ENSP00000382526:E2162Q;ENSP00000385896:E2198Q;ENSP00000382504:E2135Q	ENSP00000323129:E2028Q	E	+	1	0	CACNA1C	2670588	1.000000	0.71417	0.935000	0.37517	0.833000	0.47200	3.974000	0.56852	2.498000	0.84270	0.591000	0.81541	GAG		PASS	0.607	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		3	42	3	42	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:6078430G>A	ENST00000261405.5	-	45	7930	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2559					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.S2559L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(7675-7677)TCG>TTG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						38.0	37.0	37.0					12																	6078430		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6078430G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7676C>T	12.37:g.6078430G>A	ENSP00000261405:p.Ser2559Leu					VWF_uc010set.1_Intron	p.S2559L	NM_000552	NP_000543	P04275	VWF_HUMAN			45	7926	-			2559					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.7676C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130348	0.01756	.	.	ENSG00000110799	ENST00000261405	T	0.36878	1.23	4.87	-5.23	0.02798	.	2.276390	0.01853	N	0.036089	T	0.10637	0.0260	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33343	-0.9872	10	0.10377	T	0.69	.	10.4912	0.44752	0.72:0.1164:0.1637:0.0	.	2559	P04275	VWF_HUMAN	L	2559	ENSP00000261405:S2559L	ENSP00000261405:S2559L	S	-	2	0	VWF	5948691	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-1.528000	0.02225	-0.988000	0.03489	-1.193000	0.01689	TCG		PASS	0.592	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		4	43	4	43	---	---	---	---
LTBR	4055	broad.mit.edu	37	12	6499369	6499369	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:6499369C>G	ENST00000228918.4	+	9	1219	c.893C>G	c.(892-894)tCt>tGt	p.S298C	LTBR_ENST00000541102.1_Missense_Mutation_p.S155C|LTBR_ENST00000539925.1_Missense_Mutation_p.S279C	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	298					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)	p.S298C(1)		breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTACCCATTTCTGGAGATGTT	0.607																																						uc001qny.1																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(892-894)TCT>TGT		lymphotoxin beta receptor precursor							94.0	92.0	93.0					12																	6499369		2203	4300	6503	SO:0001583	missense	4055				apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity	g.chr12:6499369C>G	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.893C>G	12.37:g.6499369C>G	ENSP00000228918:p.Ser298Cys					LTBR_uc010sfc.1_Missense_Mutation_p.S279C|LTBR_uc001qnz.1_Missense_Mutation_p.S293C	p.S298C	NM_002342	NP_002333	P36941	TNR3_HUMAN			9	1061	+			298			Cytoplasmic (Potential).		B7Z1D2|D3DUR2|F5GXE7	Missense_Mutation	SNP	ENST00000228918.4	37	c.893C>G	CCDS8544.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737177	0.49045	.	.	ENSG00000111321	ENST00000539925;ENST00000228918;ENST00000540343;ENST00000541102	D;D;T	0.89485	-2.52;-2.52;-0.4	4.86	3.0	0.34707	.	0.854095	0.09905	N	0.740606	D	0.88362	0.6416	L	0.32530	0.975	0.09310	N	1	D;D;D	0.71674	0.998;0.997;0.992	P;P;P	0.58873	0.847;0.707;0.707	T	0.77130	-0.2701	10	0.48119	T	0.1	1.0068	6.716	0.23304	0.0:0.7869:0.0:0.2131	.	279;279;298	F5GXE7;B7Z1D2;P36941	.;.;TNR3_HUMAN	C	279;298;191;155	ENSP00000440875:S279C;ENSP00000228918:S298C;ENSP00000438605:S155C	ENSP00000228918:S298C	S	+	2	0	LTBR	6369630	0.002000	0.14202	0.005000	0.12908	0.009000	0.06853	1.156000	0.31712	1.167000	0.42706	0.557000	0.71058	TCT		PASS	0.607	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1			18	155	18	155	---	---	---	---
A2M	2	broad.mit.edu	37	12	9258841	9258841	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:9258841G>T	ENST00000318602.7	-	10	1402	c.1095C>A	c.(1093-1095)ttC>ttA	p.F365L		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	365					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.F365L(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	CCTGCCCAAAGAAGGGAATTC	0.423																																						uc001qvk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(1093-1095)TTC>TTA		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						137.0	130.0	132.0					12																	9258841		1873	4105	5978	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9258841G>T	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.1095C>A	12.37:g.9258841G>T	ENSP00000323929:p.Phe365Leu					A2M_uc009zgk.1_Missense_Mutation_p.F215L	p.F365L	NM_000014	NP_000005	P01023	A2MG_HUMAN			10	1208	-			365					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.1095C>A	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578447	0.46006	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.32988	1.43	6.06	5.14	0.70334	.	0.066892	0.64402	D	0.000005	T	0.32466	0.0830	M	0.67397	2.05	0.80722	D	1	B	0.23854	0.092	B	0.27715	0.082	T	0.11084	-1.0602	10	0.39692	T	0.17	.	9.4229	0.38561	0.1035:0.0:0.8965:0.0	.	365	P01023	A2MG_HUMAN	L	365;380	ENSP00000323929:F365L	ENSP00000323929:F365L	F	-	3	2	A2M	9150108	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	1.289000	0.33307	1.479000	0.48272	0.655000	0.94253	TTC		PASS	0.423	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		4	107	4	107	---	---	---	---
PRB2	653247	broad.mit.edu	37	12	11546167	11546167	+	Missense_Mutation	SNP	T	T	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:11546167T>A	ENST00000389362.4	-	3	880	c.845A>T	c.(844-846)aAg>aTg	p.K282M	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	282	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)		p.K261M(1)|p.K282M(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TCCTTGTGGCTTTCCTGGAGG	0.617																																						uc010shk.1																			2	Substitution - Missense(2)		lung(2)		0						c.(844-846)AAG>ATG		proline-rich protein BstNI subfamily 2							109.0	142.0	131.0					12																	11546167		2172	4258	6430	SO:0001583	missense	653247							g.chr12:11546167T>A	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.845A>T	12.37:g.11546167T>A	ENSP00000374013:p.Lys282Met						p.K282M	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	880	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	c.845A>T	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	6.544	0.468663	0.12461	.	.	ENSG00000121335	ENST00000389362	T	0.05139	3.49	1.53	-2.41	0.06562	.	2.461980	0.05427	U	0.545270	T	0.10078	0.0247	M	0.64404	1.975	0.09310	N	1	D	0.58268	0.982	P	0.49829	0.623	T	0.32798	-0.9893	10	0.33141	T	0.24	.	3.0742	0.06241	0.0:0.4125:0.2673:0.3202	.	282	P02812	PRB2_HUMAN	M	282	ENSP00000374013:K282M	ENSP00000374013:K282M	K	-	2	0	PRB2	11437434	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.425000	0.07017	-0.138000	0.11434	-0.484000	0.04775	AAG		PASS	0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		13	390	13	390	---	---	---	---
ETV6	2120	broad.mit.edu	37	12	12037425	12037425	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:12037425C>T	ENST00000396373.4	+	6	1330	c.1056C>T	c.(1054-1056)agC>agT	p.S352S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	352					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S352S(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TTTCTGACAGCCGGTACGAAA	0.453			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2				Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(1054-1056)AGC>AGT		ets variant 6							169.0	151.0	157.0					12																	12037425		2203	4300	6503	SO:0001819	synonymous_variant	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12037425C>T	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.1056C>T	12.37:g.12037425C>T						ETV6_uc001raa.1_Intron	p.S352S	NM_001987	NP_001978	P41212	ETV6_HUMAN			6	1330	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	352			ETS.		A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Silent	SNP	ENST00000396373.4	37	c.1056C>T	CCDS8643.1																																																																																				PASS	0.453	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		10	154	10	154	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20766419	20766419	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:20766419G>A	ENST00000359062.3	+	3	1094	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	352					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.E352K(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CGTCATGGGCGAGGCCCACGG	0.532																																						uc001reh.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(1054-1056)GAG>AAG		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						98.0	89.0	92.0					12																	20766419		2203	4300	6503	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20766419G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.1054G>A	12.37:g.20766419G>A	ENSP00000351957:p.Glu352Lys						p.E352K	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			3	1076	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	352					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.1054G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	35	5.518386	0.96416	.	.	ENSG00000172572	ENST00000359062	T	0.56611	0.45	5.86	5.86	0.93980	.	49.120600	0.00166	N	0.000000	T	0.80003	0.4544	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.64162	-0.6472	10	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	352	Q14432	PDE3A_HUMAN	K	352	ENSP00000351957:E352K	ENSP00000351957:E352K	E	+	1	0	PDE3A	20657686	1.000000	0.71417	0.995000	0.50966	0.789000	0.44602	8.848000	0.92172	2.937000	0.99478	0.650000	0.86243	GAG		PASS	0.532	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2			5	105	5	105	---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56628613	56628613	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:56628613G>C	ENST00000266980.4	+	4	770	c.477G>C	c.(475-477)ctG>ctC	p.L159L	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Silent_p.L159L	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	159					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.L158L(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCAGTGTCTGAACGGCTCCC	0.527																																						uc010sqj.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(475-477)CTG>CTC		solute carrier family 39 (metal ion							124.0	130.0	128.0					12																	56628613		2200	4293	6493	SO:0001819	synonymous_variant	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628613G>C		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.477G>C	12.37:g.56628613G>C						SLC39A5_uc010sqi.1_Silent_p.L50L|SLC39A5_uc010sqk.1_Silent_p.L159L	p.L159L	NM_173596	NP_775867	Q6ZMH5	S39A5_HUMAN			6	734	+			159			Extracellular (By similarity).		B2R808|Q8N6Y3	Silent	SNP	ENST00000266980.4	37	c.477G>C	CCDS8912.2																																																																																				PASS	0.527	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		4	271	4	271	---	---	---	---
GLIPR1L2	144321	broad.mit.edu	37	12	75807396	75807396	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:75807396T>C	ENST00000550916.1	+	3	546	c.499T>C	c.(499-501)Tac>Cac	p.Y167H	GLIPR1L2_ENST00000547164.1_Intron|GLIPR1L2_ENST00000378692.3_Missense_Mutation_p.Y60H|GLIPR1L2_ENST00000320460.4_Missense_Mutation_p.Y167H|GLIPR1L2_ENST00000441218.1_Missense_Mutation_p.Y102H|GLIPR1L2_ENST00000435775.1_Intron	NM_001270396.1	NP_001257325.1	Q4G1C9	GRPL2_HUMAN	GLI pathogenesis-related 1 like 2	167	SCP.					integral component of membrane (GO:0016021)		p.Y167H(2)		kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						GGACCACTCTTACAAAGTTGG	0.289																																						uc001sxr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(499-501)TAC>CAC		GLI pathogenesis-related 1 like 2							107.0	112.0	111.0					12																	75807396		2203	4296	6499	SO:0001583	missense	144321					integral to membrane		g.chr12:75807396T>C	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.499T>C	12.37:g.75807396T>C	ENSP00000448248:p.Tyr167His					GLIPR1L2_uc001sxp.1_Missense_Mutation_p.Y167H|GLIPR1L2_uc001sxq.1_Missense_Mutation_p.Y60H	p.Y167H	NM_152436	NP_689649	Q4G1C9	GRPL2_HUMAN			3	507	+			167					Q6MZS1|Q8N6N0|Q8NA43	Missense_Mutation	SNP	ENST00000550916.1	37	c.499T>C	CCDS58258.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.953795	0.53293	.	.	ENSG00000180481	ENST00000550916;ENST00000378692;ENST00000320460;ENST00000441218	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	5.14	3.99	0.46301	CAP domain (3);	0.234286	0.37053	N	0.002269	T	0.17408	0.0418	L	0.56396	1.775	0.31536	N	0.660572	D;D	0.61080	0.989;0.959	P;P	0.57244	0.788;0.816	T	0.05599	-1.0875	10	0.52906	T	0.07	.	8.7463	0.34589	0.0:0.0871:0.0:0.9129	.	167;167	Q4G1C9;Q4G1C9-2	GRPL2_HUMAN;.	H	167;60;167;102	ENSP00000448248:Y167H;ENSP00000367963:Y60H;ENSP00000317385:Y167H;ENSP00000405273:Y102H	ENSP00000317385:Y167H	Y	+	1	0	GLIPR1L2	74093663	1.000000	0.71417	0.991000	0.47740	0.938000	0.57974	1.852000	0.39348	0.970000	0.38263	0.482000	0.46254	TAC		PASS	0.289	GLIPR1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405718.1	NM_152436		11	212	11	212	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78574810	78574810	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:78574810G>A	ENST00000397909.2	+	30	5850	c.5677G>A	c.(5677-5679)Gag>Aag	p.E1893K	NAV3_ENST00000266692.7_Missense_Mutation_p.E1694K|NAV3_ENST00000228327.6_Missense_Mutation_p.E1871K|NAV3_ENST00000536525.2_Missense_Mutation_p.E1871K|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1893						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.E1871K(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GAACATCACAGAGGCTGTTAG	0.473										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(5677-5679)GAG>AAG		neuron navigator 3							104.0	104.0	104.0					12																	78574810		1989	4166	6155	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78574810G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.5677G>A	12.37:g.78574810G>A	ENSP00000381007:p.Glu1893Lys	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.E1871K|NAV3_uc010sub.1_Missense_Mutation_p.E1350K|NAV3_uc009zsf.2_Missense_Mutation_p.E702K	p.E1893K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			30	5850	+			1893					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5677G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.3|21.3	4.128686|4.128686	0.77549|0.77549	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788|ENST00000552895	T;T;T;T;T|.	0.29397|.	1.66;1.64;1.65;1.57;2.46|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.183759|.	0.25422|.	U|.	0.030796|.	T|T	0.61223|0.61223	0.2330|0.2330	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;B;B;B|.	0.39071|.	0.658;0.241;0.021;0.277|.	B;B;B;B|.	0.36244|.	0.22;0.075;0.004;0.079|.	T|T	0.52571|0.52571	-0.8558|-0.8558	10|5	0.66056|.	D|.	0.02|.	-24.532|-24.532	20.3343|20.3343	0.98733|0.98733	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1871;1694;1893;1871|.	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2|.	.;.;NAV3_HUMAN;.|.	K|K	1871;1893;1871;1694;485;493|765	ENSP00000446132:E1871K;ENSP00000381007:E1893K;ENSP00000228327:E1871K;ENSP00000266692:E1694K;ENSP00000448303:E493K|.	ENSP00000228327:E1871K|.	E|R	+|+	1|2	0|0	NAV3|NAV3	77098941|77098941	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.919000|0.919000	0.55068|0.55068	9.434000|9.434000	0.97515|0.97515	2.822000|2.822000	0.97130|0.97130	0.650000|0.650000	0.86243|0.86243	GAG|AGA		PASS	0.473	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		14	117	14	117	---	---	---	---
APAF1	317	broad.mit.edu	37	12	99077009	99077009	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:99077009A>G	ENST00000551964.1	+	15	2871	c.2135A>G	c.(2134-2136)cAt>cGt	p.H712R	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.H712R|APAF1_ENST00000359972.2_Missense_Mutation_p.H701R|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.H712R|APAF1_ENST00000357310.1_Missense_Mutation_p.H712R|APAF1_ENST00000547045.1_Missense_Mutation_p.H712R|APAF1_ENST00000550527.1_Missense_Mutation_p.H701R	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	712					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.H712R(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	AACAGTAGTCATCATCTTCTC	0.393																																						uc001tfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(2134-2136)CAT>CGT		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						186.0	160.0	169.0					12																	99077009		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99077009A>G	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.2135A>G	12.37:g.99077009A>G	ENSP00000448165:p.His712Arg					APAF1_uc001tfy.2_Missense_Mutation_p.H701R|APAF1_uc001tga.2_Missense_Mutation_p.H701R|APAF1_uc001tgb.2_Missense_Mutation_p.H712R|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.H121R	p.H712R	NM_181861	NP_863651	O14727	APAF_HUMAN			15	2712	+			712			WD 3.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.2135A>G	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	A	5.350	0.249920	0.10130	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.80480	1.64;2.23;5.13;-1.38;1.64;5.13;-1.38	5.67	3.3	0.37823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.616289	0.18649	N	0.135044	T	0.57562	0.2062	N	0.10945	0.07	0.09310	N	0.999999	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.09377	0.004;0.002;0.002;0.001;0.0	T	0.38520	-0.9657	10	0.13853	T	0.58	1.0033	5.4508	0.16565	0.5719:0.2992:0.1289:0.0	.	712;712;701;712;701	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	R	712;701;712;712;701;712;712	ENSP00000448165:H712R;ENSP00000353059:H701R;ENSP00000349862:H712R;ENSP00000341830:H712R;ENSP00000448449:H701R;ENSP00000449791:H712R;ENSP00000448161:H712R	ENSP00000341830:H712R	H	+	2	0	APAF1	97601140	0.000000	0.05858	0.865000	0.33974	0.975000	0.68041	0.766000	0.26560	0.946000	0.37632	0.533000	0.62120	CAT		PASS	0.393	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		21	89	21	89	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	104033905	104033905	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:104033905A>T	ENST00000388887.2	+	9	1115	c.911A>T	c.(910-912)cAc>cTc	p.H304L		NM_017564.9	NP_060034.9			stabilin 2									p.H304L(1)		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						CTGAAGTCTCACTGCGAGTGT	0.373																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(910-912)CAC>CTC		stabilin 2 precursor							133.0	123.0	126.0					12																	104033905		2203	4300	6503	SO:0001583	missense	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.chr12:104033905A>T	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.911A>T	12.37:g.104033905A>T	ENSP00000373539:p.His304Leu						p.H304L	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			9	1097	+			304			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.911A>T	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362082	0.61403	.	.	ENSG00000136011	ENST00000388887	T	0.07567	3.18	5.62	5.62	0.85841	.	0.123452	0.53938	D	0.000051	T	0.11067	0.0270	L	0.41906	1.305	0.51012	D	0.999902	P	0.48640	0.913	P	0.47470	0.548	T	0.23297	-1.0192	10	0.10636	T	0.68	.	15.768	0.78143	1.0:0.0:0.0:0.0	.	304	Q8WWQ8	STAB2_HUMAN	L	304	ENSP00000373539:H304L	ENSP00000373539:H304L	H	+	2	0	STAB2	102558035	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.762000	0.74950	2.255000	0.74692	0.533000	0.62120	CAC		PASS	0.373	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			7	85	7	85	---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133306454	133306454	+	Nonsense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr12:133306454G>C	ENST00000357997.5	-	11	2383	c.2294C>G	c.(2293-2295)tCa>tGa	p.S765*	ANKLE2_ENST00000539605.1_Nonsense_Mutation_p.S703*|ANKLE2_ENST00000542374.1_Intron|ANKLE2_ENST00000542282.1_Nonsense_Mutation_p.S120*|ANKLE2_ENST00000542657.1_Nonsense_Mutation_p.S120*	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	765					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)	p.S765*(1)		NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ATTGATTCTTGAAGTCAGGAT	0.423																																						uc001ukx.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2293-2295)TCA>TGA		ankyrin repeat and LEM domain containing 2							165.0	158.0	160.0					12																	133306454		1946	4152	6098	SO:0001587	stop_gained	23141					cytoplasm|integral to membrane|nuclear envelope		g.chr12:133306454G>C	AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.2294C>G	12.37:g.133306454G>C	ENSP00000350686:p.Ser765*					ANKLE2_uc009zyw.1_Nonsense_Mutation_p.S120*	p.S765*	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)	11	2361	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	765					A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Nonsense_Mutation	SNP	ENST00000357997.5	37	c.2294C>G	CCDS41869.1	.	.	.	.	.	.	.	.	.	.	G	50	17.067515	0.99878	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000542282;ENST00000542657;ENST00000538766	.	.	.	5.74	3.89	0.44902	.	1.008860	0.07936	N	0.978302	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-13.8657	7.7101	0.28673	0.0768:0.0:0.5714:0.3518	.	.	.	.	X	703;765;120;120;120	.	ENSP00000350686:S765X	S	-	2	0	ANKLE2	131816527	0.197000	0.23362	0.001000	0.08648	0.234000	0.25298	3.760000	0.55235	0.868000	0.35678	-0.147000	0.13772	TCA		PASS	0.423	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397712.1			4	102	4	102	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79979847	79979847	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr13:79979847G>C	ENST00000438737.2	-	1	503	c.63C>G	c.(61-63)ctC>ctG	p.L21L	RBM26_ENST00000267229.7_Silent_p.L21L|RBM26-AS1_ENST00000607864.1_RNA|RBM26_ENST00000438724.1_Silent_p.L21L|RBM26-AS1_ENST00000606584.1_RNA|RBM26-AS1_ENST00000456602.1_RNA|RBM26-AS1_ENST00000606049.1_RNA			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	21					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L21L(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ACATGGGCTCGAGAGTCTTGC	0.567																																						uc001vkz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(61-63)CTC>CTG		RNA binding motif protein 26							82.0	77.0	79.0					13																	79979847		2203	4300	6503	SO:0001819	synonymous_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79979847G>C	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.63C>G	13.37:g.79979847G>C						RBM26_uc001vky.2_Silent_p.L21L|RBM26_uc001vla.2_Silent_p.L21L|RBM26_uc001vlc.1_Silent_p.L21L|uc001vld.1_5'Flank|uc001vle.2_5'Flank	p.L21L	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	1	77	-		Acute lymphoblastic leukemia(28;0.0279)	21					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37	c.63C>G																																																																																					PASS	0.567	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		6	68	6	68	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20483014	20483014	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:20483014C>A	ENST00000305045.2	-	1	338	c.339G>T	c.(337-339)atG>atT	p.M113I		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M113I(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)		CCAGGAGCACCATCTCAGCCC	0.463																																						uc010tky.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(337-339)ATG>ATT		olfactory receptor, family 4, subfamily K,							100.0	97.0	98.0					14																	20483014		2203	4300	6503	SO:0001583	missense	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20483014C>A		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.339G>T	14.37:g.20483014C>A	ENSP00000305011:p.Met113Ile						p.M113I	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	339	-	all_cancers(95;0.00108)		113			Helical; Name=3; (Potential).		Q6IEU1|Q96R71	Missense_Mutation	SNP	ENST00000305045.2	37	c.339G>T	CCDS32027.1	.	.	.	.	.	.	.	.	.	.	.	9.416	1.081712	0.20309	.	.	ENSG00000169484	ENST00000305045	T	0.00388	7.59	4.04	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000046	T	0.00210	0.0006	N	0.19112	0.55	0.09310	N	1	B	0.22909	0.077	B	0.19946	0.027	T	0.45338	-0.9268	10	0.25106	T	0.35	.	11.2067	0.48773	0.0:0.8129:0.1871:0.0	.	113	Q8NGD5	OR4KE_HUMAN	I	113	ENSP00000305011:M113I	ENSP00000305011:M113I	M	-	3	0	OR4K14	19552854	0.000000	0.05858	1.000000	0.80357	0.992000	0.81027	-2.780000	0.00773	2.086000	0.62901	0.505000	0.49811	ATG		PASS	0.463	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			11	64	11	64	---	---	---	---
DHRS4	10901	broad.mit.edu	37	14	24435598	24435598	+	Missense_Mutation	SNP	G	G	A	rs372755007		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:24435598G>A	ENST00000313250.5	+	6	841	c.638G>A	c.(637-639)gGa>gAa	p.G213E	DHRS4_ENST00000421831.1_Missense_Mutation_p.G161E|DHRS4_ENST00000382761.3_Intron|DHRS4_ENST00000397075.3_Intron|DHRS4_ENST00000397074.3_Intron|DHRS4_ENST00000559632.1_Intron|DHRS4_ENST00000543741.2_Intron|DHRS4_ENST00000558263.1_Intron|DHRS4_ENST00000397073.2_Intron|DHRS4_ENST00000558581.1_Missense_Mutation_p.G179E|DHRS4_ENST00000308178.8_Intron	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	213					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.G213E(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTAGCACCTGGACTTATCAAG	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		26562	0.0		0.001	False		,,,				2504	0.0					uc001wla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(637-639)GGA>GAA		peroxisomal short-chain alcohol dehydrogenase	Vitamin A(DB00162)	G	GLU/GLY	0,4402		0,0,2201	116.0	99.0	105.0		638	3.5	1.0	14		105	1,8593		0,1,4296	no	missense	DHRS4	NM_021004.2	98	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	213/279	24435598	1,12995	2201	4297	6498	SO:0001583	missense	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24435598G>A	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.638G>A	14.37:g.24435598G>A	ENSP00000326219:p.Gly213Glu					DHRS4_uc010aky.2_Intron|DHRS4_uc001wlb.2_Missense_Mutation_p.G179E|DHRS4_uc010akz.2_Intron|DHRS4_uc001wlc.3_Missense_Mutation_p.G213E|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron	p.G213E	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	6	671	+			213					B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Missense_Mutation	SNP	ENST00000313250.5	37	c.638G>A	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415829	0.62511	0.0	1.16E-4	ENSG00000157326	ENST00000313250;ENST00000421831	D;D	0.96265	-3.96;-3.96	3.53	3.53	0.40419	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98692	0.9561	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	0.993;1.0	D;D	0.87578	0.976;0.998	D	0.99100	1.0843	10	0.87932	D	0	.	12.9865	0.58594	0.0:0.0:1.0:0.0	.	179;213	Q9BTZ2-4;Q9BTZ2	.;DHRS4_HUMAN	E	213;161	ENSP00000326219:G213E;ENSP00000404147:G161E	ENSP00000326219:G213E	G	+	2	0	DHRS4	23505438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.378000	0.90144	1.687000	0.51057	0.580000	0.79431	GGA		PASS	0.527	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			4	143	4	143	---	---	---	---
BMP4	652	broad.mit.edu	37	14	54417514	54417514	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:54417514A>C	ENST00000245451.4	-	4	856	c.463T>G	c.(463-465)Tct>Gct	p.S155A	BMP4_ENST00000559087.1_Missense_Mutation_p.S155A|BMP4_ENST00000417573.1_Missense_Mutation_p.S155A|MIR5580_ENST00000580850.1_RNA|BMP4_ENST00000558984.1_Missense_Mutation_p.S155A	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	155					activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification (GO:0009948)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|BMP signaling pathway (GO:0030509)|BMP signaling pathway involved in heart induction (GO:0003130)|BMP signaling pathway involved in nephric duct formation (GO:0071893)|BMP signaling pathway involved in renal system segmentation (GO:0061151)|BMP signaling pathway involved in ureter morphogenesis (GO:0061149)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchus development (GO:0060433)|bud dilation involved in lung branching (GO:0060503)|bud elongation involved in lung branching (GO:0060449)|cardiac septum development (GO:0003279)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte differentiation (GO:0002062)|cloacal septation (GO:0060197)|common-partner SMAD protein phosphorylation (GO:0007182)|cranial suture morphogenesis (GO:0060363)|deltoid tuberosity development (GO:0035993)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint morphogenesis (GO:0060272)|endocardial cushion development (GO:0003197)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in lung morphogenesis (GO:0060502)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal cell signaling (GO:0060684)|erythrocyte differentiation (GO:0030218)|extracellular matrix organization (GO:0030198)|germ cell development (GO:0007281)|glomerular capillary formation (GO:0072104)|glomerular visceral epithelial cell development (GO:0072015)|hematopoietic progenitor cell differentiation (GO:0002244)|inner ear receptor cell differentiation (GO:0060113)|intermediate mesodermal cell differentiation (GO:0048392)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lymphoid progenitor cell differentiation (GO:0002320)|macrophage differentiation (GO:0030225)|mammary gland formation (GO:0060592)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|mesenchymal cell proliferation involved in ureter development (GO:0072198)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate determination (GO:0007500)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway (GO:0072097)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in heart morphogenesis (GO:2000137)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of glomerulus development (GO:0090194)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell proliferation involved in ureter development (GO:0072200)|negative regulation of metanephric comma-shaped body morphogenesis (GO:2000007)|negative regulation of metanephric S-shaped body morphogenesis (GO:2000005)|negative regulation of mitosis (GO:0045839)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of cardiac muscle fiber development (GO:0055020)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell death (GO:0010942)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of kidney development (GO:0090184)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of SMAD protein import into nucleus (GO:0060391)|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)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|pulmonary artery endothelial tube morphogenesis (GO:0061155)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|renal system process (GO:0003014)|secondary heart field specification (GO:0003139)|SMAD protein signal transduction (GO:0060395)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|specification of organ position (GO:0010159)|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway (GO:0072101)|steroid hormone mediated signaling pathway (GO:0043401)|telencephalon development (GO:0021537)|telencephalon regionalization (GO:0021978)|tendon cell differentiation (GO:0035990)|trachea development (GO:0060438)|trachea formation (GO:0060440)|type B pancreatic cell development (GO:0003323)|ureter epithelial cell differentiation (GO:0072192)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	BMP receptor binding (GO:0070700)|chemoattractant activity (GO:0042056)|cytokine activity (GO:0005125)|heparin binding (GO:0008201)	p.S155A(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						AGCTCTGCAGAGGAGATCACC	0.532																																						uc001xal.3																			1	Substitution - Missense(1)		lung(1)		0						c.(463-465)TCT>GCT		bone morphogenetic protein 4 preproprotein							43.0	41.0	41.0					14																	54417514		2203	4300	6503	SO:0001583	missense	652				activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity	g.chr14:54417514A>C	AF035427	CCDS9715.1	14q22-q23	2014-01-30			ENSG00000125378	ENSG00000125378		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1071	protein-coding gene	gene with protein product		112262		BMP2B		7558046, 7579580	Standard	NM_001202		Approved		uc010aoh.3	P12644	OTTHUMG00000140303	ENST00000245451.4:c.463T>G	14.37:g.54417514A>C	ENSP00000245451:p.Ser155Ala					BMP4_uc010aoh.2_Missense_Mutation_p.S155A|BMP4_uc001xao.3_Missense_Mutation_p.S155A|BMP4_uc001xan.3_Missense_Mutation_p.S155A	p.S155A	NM_130851	NP_570912	P12644	BMP4_HUMAN			3	650	-			155					Q9UM80	Missense_Mutation	SNP	ENST00000245451.4	37	c.463T>G	CCDS9715.1	.	.	.	.	.	.	.	.	.	.	A	8.739	0.918607	0.17982	.	.	ENSG00000125378	ENST00000245451;ENST00000417573	T;T	0.64618	-0.11;-0.11	5.2	5.2	0.72013	Transforming growth factor-beta, N-terminal (1);	0.053140	0.85682	D	0.000000	T	0.52773	0.1755	L	0.28274	0.84	0.51012	D	0.999902	B	0.22604	0.072	B	0.33799	0.17	T	0.48175	-0.9058	10	0.22706	T	0.39	.	14.4035	0.67065	1.0:0.0:0.0:0.0	.	155	P12644	BMP4_HUMAN	A	155	ENSP00000245451:S155A;ENSP00000394165:S155A	ENSP00000245451:S155A	S	-	1	0	BMP4	53487264	1.000000	0.71417	0.832000	0.32986	0.991000	0.79684	5.716000	0.68437	2.189000	0.69895	0.533000	0.62120	TCT		PASS	0.532	BMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276894.2	NM_001202		8	48	8	48	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58831026	58831026	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:58831026C>G	ENST00000355431.3	+	20	2592	c.2219C>G	c.(2218-2220)tCt>tGt	p.S740C	ARID4A_ENST00000395168.3_Missense_Mutation_p.S740C|ARID4A_ENST00000348476.3_Missense_Mutation_p.S740C|ARID4A_ENST00000431317.2_Missense_Mutation_p.S740C	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	740					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S740C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCAAAGATTTCTGCACATATA	0.289																																						uc001xdp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(2218-2220)TCT>TGT		retinoblastoma-binding protein 1 isoform I							46.0	56.0	53.0					14																	58831026		2173	4279	6452	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831026C>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2219C>G	14.37:g.58831026C>G	ENSP00000347602:p.Ser740Cys					ARID4A_uc001xdo.2_Missense_Mutation_p.S740C|ARID4A_uc001xdq.2_Missense_Mutation_p.S740C|ARID4A_uc010apg.1_Missense_Mutation_p.S418C	p.S740C	NM_002892	NP_002883	P29374	ARI4A_HUMAN			20	2473	+			740					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2219C>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	7.195	0.592251	0.13812	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.14766	2.48;2.48;2.49;2.48;2.48	4.36	1.43	0.22495	.	0.700302	0.14580	N	0.310916	T	0.06645	0.0170	N	0.08118	0	0.09310	N	1	B;B;B	0.22480	0.01;0.07;0.01	B;B;B	0.17722	0.003;0.019;0.003	T	0.32613	-0.9900	10	0.56958	D	0.05	-2.2925	7.4346	0.27148	0.0:0.7088:0.0:0.2912	.	740;740;740	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	C	740;740;740;740;418	ENSP00000347602:S740C;ENSP00000344556:S740C;ENSP00000378597:S740C;ENSP00000397368:S740C;ENSP00000416053:S418C	ENSP00000344556:S740C	S	+	2	0	ARID4A	57900779	0.063000	0.20901	0.856000	0.33681	0.917000	0.54804	1.215000	0.32431	0.179000	0.19938	0.650000	0.86243	TCT		PASS	0.289	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		3	124	3	124	---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58831452	58831452	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:58831452C>G	ENST00000355431.3	+	20	3018	c.2645C>G	c.(2644-2646)tCt>tGt	p.S882C	ARID4A_ENST00000395168.3_Missense_Mutation_p.S882C|ARID4A_ENST00000348476.3_Missense_Mutation_p.S882C|ARID4A_ENST00000431317.2_Missense_Mutation_p.S882C	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	882					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S882C(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AATACTGTATCTCAAGAAAGG	0.333																																						uc001xdp.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)|lung(1)	6						c.(2644-2646)TCT>TGT		retinoblastoma-binding protein 1 isoform I							78.0	71.0	74.0					14																	58831452		2203	4300	6503	SO:0001583	missense	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58831452C>G	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.2645C>G	14.37:g.58831452C>G	ENSP00000347602:p.Ser882Cys					ARID4A_uc001xdo.2_Missense_Mutation_p.S882C|ARID4A_uc001xdq.2_Missense_Mutation_p.S882C|ARID4A_uc010apg.1_Missense_Mutation_p.S560C	p.S882C	NM_002892	NP_002883	P29374	ARI4A_HUMAN			20	2899	+			882					Q15991|Q15992|Q15993	Missense_Mutation	SNP	ENST00000355431.3	37	c.2645C>G	CCDS9732.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759751	0.69763	.	.	ENSG00000032219	ENST00000355431;ENST00000348476;ENST00000395168;ENST00000431317;ENST00000417477	T;T;T;T;T	0.18960	2.29;2.26;2.26;2.26;2.18	5.59	5.59	0.84812	.	0.356471	0.33346	N	0.005003	T	0.36193	0.0958	L	0.51422	1.61	0.46222	D	0.998933	D;P;D	0.57257	0.979;0.856;0.979	P;B;P	0.53593	0.73;0.417;0.73	T	0.04360	-1.0957	10	0.72032	D	0.01	-3.9584	19.6131	0.95618	0.0:1.0:0.0:0.0	.	882;882;882	P29374-3;P29374;P29374-2	.;ARI4A_HUMAN;.	C	882;882;882;882;560	ENSP00000347602:S882C;ENSP00000344556:S882C;ENSP00000378597:S882C;ENSP00000397368:S882C;ENSP00000416053:S560C	ENSP00000344556:S882C	S	+	2	0	ARID4A	57901205	0.997000	0.39634	0.989000	0.46669	0.982000	0.71751	4.292000	0.59031	2.638000	0.89438	0.650000	0.86243	TCT		PASS	0.333	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		3	59	3	59	---	---	---	---
RHOJ	57381	broad.mit.edu	37	14	63747706	63747706	+	Silent	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:63747706G>T	ENST00000316754.3	+	3	717	c.255G>T	c.(253-255)ctG>ctT	p.L85L	RHOJ_ENST00000555125.1_Silent_p.L85L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	85					actin cytoskeleton organization (GO:0030036)|GTP catabolic process (GO:0006184)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.L85L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		ACAACCAGCTGAGGCCACTCT	0.517																																						uc001xgb.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)CTG>CTT		ras homolog gene family, member J precursor							207.0	146.0	167.0					14																	63747706		2203	4300	6503	SO:0001819	synonymous_variant	57381				actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity	g.chr14:63747706G>T	AK027351	CCDS9757.1	14q23.1	2012-02-27	2012-02-27	2004-03-24	ENSG00000126785	ENSG00000126785			688	protein-coding gene	gene with protein product		607653	"""RAS-like, family 7, member B"", ""ras homolog gene family, member J"""	RASL7B, ARHJ		10967094	Standard	NM_020663		Approved	FLJ14445, TCL	uc001xgb.2	Q9H4E5	OTTHUMG00000140342	ENST00000316754.3:c.255G>T	14.37:g.63747706G>T							p.L85L	NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)	3	698	+			85					Q96KC1	Silent	SNP	ENST00000316754.3	37	c.255G>T	CCDS9757.1																																																																																				PASS	0.517	RHOJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276975.3			4	107	4	107	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65246548	65246548	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:65246548G>A	ENST00000389721.5	-	20	4400	c.4368C>T	c.(4366-4368)atC>atT	p.I1456I	SPTB_ENST00000542895.1_Silent_p.I1456I|SPTB_ENST00000556626.1_Silent_p.I1456I|SPTB_ENST00000389720.3_Silent_p.I1456I|SPTB_ENST00000389722.3_Silent_p.I1456I	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1456					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.I1456I(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACCGCTTCTCGATGCTCAAGT	0.567																																						uc001xht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4366-4368)ATC>ATT		spectrin beta isoform b							159.0	147.0	151.0					14																	65246548		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65246548G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4368C>T	14.37:g.65246548G>A						SPTB_uc001xhr.2_Silent_p.I1456I|SPTB_uc001xhs.2_Silent_p.I1456I|SPTB_uc001xhu.2_Silent_p.I1456I|SPTB_uc010aqi.2_Silent_p.I117I	p.I1456I	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4422	-		all_lung(585;4.15e-09)	1456			Spectrin 12.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.4368C>T	CCDS32100.1																																																																																				PASS	0.567	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			7	164	7	164	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65253537	65253537	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:65253537G>A	ENST00000389721.5	-	15	3178	c.3146C>T	c.(3145-3147)tCc>tTc	p.S1049F	SPTB_ENST00000542895.1_Missense_Mutation_p.S1049F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1049F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1049F|SPTB_ENST00000389722.3_Missense_Mutation_p.S1049F	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1049					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.S1049F(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCTGCAGGGATTGCTGCAG	0.607																																						uc001xht.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(3145-3147)TCC>TTC		spectrin beta isoform b							52.0	57.0	55.0					14																	65253537		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253537G>A		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3146C>T	14.37:g.65253537G>A	ENSP00000374371:p.Ser1049Phe					SPTB_uc001xhr.2_Missense_Mutation_p.S1049F|SPTB_uc001xhs.2_Missense_Mutation_p.S1049F|SPTB_uc001xhu.2_Missense_Mutation_p.S1049F	p.S1049F	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3200	-		all_lung(585;4.15e-09)	1049			Spectrin 8.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.3146C>T	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.136323	0.37728	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	4.89	4.89	0.63831	.	0.119869	0.56097	D	0.000025	T	0.34366	0.0895	N	0.14661	0.345	0.28042	N	0.933719	B;B	0.22541	0.003;0.071	B;B	0.18263	0.009;0.021	T	0.38672	-0.9650	10	0.72032	D	0.01	.	17.1796	0.86851	0.0:0.0:1.0:0.0	.	1049;1053	P11277;Q59FP5	SPTB1_HUMAN;.	F	1053;1049;1049;1049;1049;1049	ENSP00000374372:S1049F;ENSP00000451752:S1049F;ENSP00000374371:S1049F;ENSP00000443882:S1049F;ENSP00000374370:S1049F	ENSP00000374370:S1049F	S	-	2	0	SPTB	64323290	1.000000	0.71417	0.848000	0.33437	0.245000	0.25701	8.050000	0.89445	2.430000	0.82344	0.549000	0.68633	TCC		PASS	0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			5	109	5	109	---	---	---	---
MPP5	64398	broad.mit.edu	37	14	67768824	67768824	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:67768824G>C	ENST00000261681.4	+	6	1451	c.790G>C	c.(790-792)Gat>Cat	p.D264H	MPP5_ENST00000555925.1_Missense_Mutation_p.D230H	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	264	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)	p.D264H(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AAAGGCTCGTGATATTCCGTT	0.373																																						uc001xjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(790-792)GAT>CAT		membrane protein, palmitoylated 5							123.0	128.0	126.0					14																	67768824		2203	4300	6503	SO:0001583	missense	64398				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding	g.chr14:67768824G>C	AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.790G>C	14.37:g.67768824G>C	ENSP00000261681:p.Asp264His					MPP5_uc001xjd.2_Missense_Mutation_p.D230H|ATP6V1D_uc001xje.2_Intron	p.D264H	NM_022474	NP_071919	Q8N3R9	MPP5_HUMAN		all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)	6	1256	+			264			PDZ.		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	ENST00000261681.4	37	c.790G>C	CCDS9779.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519502	0.85495	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.31510	1.49;1.49	5.47	5.47	0.80525	PDZ/DHR/GLGF (3);	0.000000	0.85682	D	0.000000	T	0.55625	0.1932	M	0.62209	1.925	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.56679	-0.7939	10	0.72032	D	0.01	.	19.3356	0.94316	0.0:0.0:1.0:0.0	.	264	Q8N3R9	MPP5_HUMAN	H	264;230	ENSP00000261681:D264H;ENSP00000451488:D230H	ENSP00000261681:D264H	D	+	1	0	MPP5	66838577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.343000	0.97047	2.578000	0.87016	0.650000	0.86243	GAT		PASS	0.373	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412498.1	NM_022474		3	91	3	91	---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75514843	75514843	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:75514843C>A	ENST00000556740.1	-	1	1551	c.1516G>T	c.(1516-1518)Gaa>Taa	p.E506*	MLH3_ENST00000555671.1_5'Flank|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000355774.2_Nonsense_Mutation_p.E506*|MLH3_ENST00000238662.7_Nonsense_Mutation_p.E506*|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Nonsense_Mutation_p.E506*			Q9UHC1	MLH3_HUMAN	mutL homolog 3	506					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.E506*(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AAAAACATTTCTAAACTGGTT	0.388								Mismatch excision repair (MMR)																														uc001xrd.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|skin(1)	2						c.(1516-1518)GAA>TAA	MMR	mutL homolog 3 isoform 1							81.0	86.0	84.0					14																	75514843		2203	4300	6503	SO:0001587	stop_gained	27030				mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding	g.chr14:75514843C>A	AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.1516G>T	14.37:g.75514843C>A	ENSP00000452316:p.Glu506*					MLH3_uc001xre.1_Nonsense_Mutation_p.E506*|MLH3_uc010tuy.1_RNA	p.E506*	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00688)	2	1732	-			506					P49751|Q56DK9|Q9P292|Q9UHC0	Nonsense_Mutation	SNP	ENST00000556740.1	37	c.1516G>T	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132713	0.77662	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	.	.	.	5.34	3.46	0.39613	.	0.155260	0.42172	D	0.000749	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-8.4948	9.1693	0.37072	0.0:0.7707:0.1479:0.0813	.	.	.	.	X	506	.	ENSP00000238662:E506X	E	-	1	0	MLH3	74584596	1.000000	0.71417	0.433000	0.26760	0.145000	0.21501	2.521000	0.45563	0.584000	0.29591	0.585000	0.79938	GAA		PASS	0.388	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1	NM_014381		6	128	6	128	---	---	---	---
ESRRB	2103	broad.mit.edu	37	14	76928997	76928997	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:76928997G>A	ENST00000509242.1	+	4	605	c.507G>A	c.(505-507)ctG>ctA	p.L169L	ESRRB_ENST00000380887.2_Silent_p.L169L|ESRRB_ENST00000556177.1_Silent_p.L169L|ESRRB_ENST00000261532.7_Silent_p.L169L|ESRRB_ENST00000507951.1_3'UTR	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	169					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.L169L(2)		endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGGGGATGCTGAAGGAAGGTA	0.587																																						uc001xsq.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(505-507)CTG>CTA		estrogen-related receptor beta							126.0	128.0	128.0					14																	76928997		2203	4300	6503	SO:0001819	synonymous_variant	2103					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr14:76928997G>A	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.507G>A	14.37:g.76928997G>A						ESRRB_uc001xsr.2_Silent_p.L169L|ESRRB_uc001xso.2_RNA	p.L169L	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0213)	3	574	+			169					A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	37	c.507G>A	CCDS9850.2																																																																																				PASS	0.587	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1			10	257	10	257	---	---	---	---
GSTZ1	2954	broad.mit.edu	37	14	77795519	77795519	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:77795519G>C	ENST00000556627.1	+	5	446	c.315G>C	c.(313-315)caG>caC	p.Q105H	GSTZ1_ENST00000554279.1_Missense_Mutation_p.Q118H|GSTZ1_ENST00000393734.1_Missense_Mutation_p.Q77H|GSTZ1_ENST00000349555.3_Missense_Mutation_p.Q90H|GSTZ1_ENST00000557053.1_Missense_Mutation_p.Q35H|GSTZ1_ENST00000216465.5_Missense_Mutation_p.Q132H|GSTZ1_ENST00000557639.1_Missense_Mutation_p.Q77H|GSTZ1_ENST00000553586.1_Missense_Mutation_p.Q133H|GSTZ1_ENST00000361389.4_Missense_Mutation_p.Q77H			O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	132	GST C-terminal.				cellular nitrogen compound metabolic process (GO:0034641)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|L-phenylalanine catabolic process (GO:0006559)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|maleylacetoacetate isomerase activity (GO:0016034)|protein homodimerization activity (GO:0042803)	p.Q77H(1)|p.Q132H(1)		lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	CCTGGGCCCAGAACGCCATCA	0.582																																						uc001xtj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(394-396)CAG>CAC		glutathione transferase zeta 1 isoform 1	Glutathione(DB00143)						137.0	113.0	121.0					14																	77795519		2203	4300	6503	SO:0001583	missense	2954				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	g.chr14:77795519G>C	U86529	CCDS9858.1, CCDS9859.1, CCDS9860.1	14q24.3	2012-06-22	2012-06-22		ENSG00000100577	ENSG00000100577	5.2.1.2, 2.5.1.18	"""Glutathione S-transferases / Soluble"""	4643	protein-coding gene	gene with protein product	"""maleylacetoacetate isomerase"""	603758	"""glutathione transferase zeta 1"""			9396740, 9417084	Standard	NM_001513		Approved	GSTZ1-1, MAAI, MAI	uc001xtj.3	O43708	OTTHUMG00000171551	ENST00000556627.1:c.315G>C	14.37:g.77795519G>C	ENSP00000450487:p.Gln105His					GSTZ1_uc001xtk.2_Missense_Mutation_p.Q90H|GSTZ1_uc010ass.2_Missense_Mutation_p.Q77H|GSTZ1_uc001xtm.2_Missense_Mutation_p.Q77H	p.Q132H	NM_145870	NP_665877	O43708	MAAI_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	6	678	+			132			GST C-terminal.		A6NED0|A6NNB8|A8MWD7|B2RCK3|O15308|O75430|Q6IB17|Q7Z610|Q9BV63	Missense_Mutation	SNP	ENST00000556627.1	37	c.396G>C		.	.	.	.	.	.	.	.	.	.	G	10.11	1.261650	0.23051	.	.	ENSG00000100577	ENST00000216465;ENST00000361389;ENST00000554279;ENST00000557639;ENST00000349555;ENST00000556627;ENST00000557053;ENST00000393734;ENST00000553586	T;T;T;T;T;T;T;T;T	0.02121	4.44;4.44;4.44;4.44;4.44;4.44;4.44;4.44;4.44	5.76	3.92	0.45320	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.049852	0.85682	D	0.000000	T	0.02494	0.0076	L	0.39397	1.21	0.58432	D	0.999998	B;B	0.17038	0.02;0.018	B;B	0.26614	0.071;0.017	T	0.51725	-0.8669	10	0.22706	T	0.39	-0.3656	8.3962	0.32559	0.2415:0.0:0.7585:0.0	.	90;132	A6NED0;O43708	.;MAAI_HUMAN	H	132;77;118;77;90;105;35;77;133	ENSP00000216465:Q132H;ENSP00000354959:Q77H;ENSP00000452498:Q118H;ENSP00000451927:Q77H;ENSP00000314404:Q90H;ENSP00000450487:Q105H;ENSP00000451150:Q35H;ENSP00000377335:Q77H;ENSP00000451976:Q133H	ENSP00000216465:Q132H	Q	+	3	2	GSTZ1	76865272	0.943000	0.32029	1.000000	0.80357	0.741000	0.42261	1.222000	0.32515	1.440000	0.47531	0.655000	0.94253	CAG		PASS	0.582	GSTZ1-012	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000414090.1	NM_145870		7	108	7	108	---	---	---	---
SETD3	84193	broad.mit.edu	37	14	99865093	99865093	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:99865093G>C	ENST00000331768.5	-	13	1867	c.1708C>G	c.(1708-1710)Ctc>Gtc	p.L570V		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	570					histone H3-K36 methylation (GO:0010452)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|peptidyl-lysine trimethylation (GO:0018023)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)	p.L570V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TCTTGATTGAGACTTTCATTT	0.473																																						uc001ygc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1708-1710)CTC>GTC		SET domain containing 3 isoform a							222.0	201.0	208.0					14																	99865093		2203	4300	6503	SO:0001583	missense	84193				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	g.chr14:99865093G>C	AK026680	CCDS9951.1, CCDS9952.1	14q32.2	2006-02-15	2006-02-15	2006-02-15	ENSG00000183576	ENSG00000183576			20493	protein-coding gene	gene with protein product		615671	"""chromosome 14 open reading frame 154"""	C14orf154			Standard	NM_032233		Approved	FLJ23027	uc001ygc.3	Q86TU7	OTTHUMG00000028970	ENST00000331768.5:c.1708C>G	14.37:g.99865093G>C	ENSP00000327436:p.Leu570Val						p.L570V	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN			13	1878	-		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)	570					A0PJU3|A5PLP0|B4DZE8|Q0VAQ2|Q659C0|Q86TU8|Q96GY9|Q9H5U5	Missense_Mutation	SNP	ENST00000331768.5	37	c.1708C>G	CCDS9951.1	.	.	.	.	.	.	.	.	.	.	G	3.946	-0.013237	0.07727	.	.	ENSG00000183576	ENST00000331768	T	0.13538	2.58	5.3	-3.43	0.04810	.	1.509020	0.03905	N	0.280891	T	0.15219	0.0367	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.39961	-0.9588	10	0.39692	T	0.17	3.0157	9.4745	0.38862	0.3481:0.1116:0.5403:0.0	.	570	Q86TU7	SETD3_HUMAN	V	570	ENSP00000327436:L570V	ENSP00000327436:L570V	L	-	1	0	SETD3	98934846	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.384000	0.20668	-0.541000	0.06257	-0.302000	0.09304	CTC		PASS	0.473	SETD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072339.3	NM_032233		5	201	5	201	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102515856	102515856	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:102515856G>C	ENST00000360184.4	+	75	13616	c.13452G>C	c.(13450-13452)gaG>gaC	p.E4484D	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4484					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.E4484D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ACTTCAGCGAGAGGATCAAAC	0.607																																						uc001yks.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(13450-13452)GAG>GAC		cytoplasmic dynein 1 heavy chain 1							66.0	59.0	61.0					14																	102515856		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102515856G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.13452G>C	14.37:g.102515856G>C	ENSP00000348965:p.Glu4484Asp						p.E4484D	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			75	13616	+			4484					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.13452G>C	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840183	0.51057	.	.	ENSG00000197102	ENST00000360184	T	0.09163	3.01	5.54	4.54	0.55810	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.09379	0.0231	L	0.41492	1.28	0.58432	D	0.999993	B	0.16802	0.019	B	0.21917	0.037	T	0.15723	-1.0427	10	0.22706	T	0.39	.	9.5653	0.39394	0.183:0.0:0.817:0.0	.	4484	Q14204	DYHC1_HUMAN	D	4484	ENSP00000348965:E4484D	ENSP00000348965:E4484D	E	+	3	2	DYNC1H1	101585609	1.000000	0.71417	0.988000	0.46212	0.982000	0.71751	2.246000	0.43142	2.589000	0.87451	0.655000	0.94253	GAG		PASS	0.607	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		3	54	3	54	---	---	---	---
ASPG	374569	broad.mit.edu	37	14	104571026	104571026	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:104571026C>T	ENST00000551177.1	+	9	1096	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	ASPG_ENST00000546892.2_Missense_Mutation_p.S335L|ASPG_ENST00000455920.2_Missense_Mutation_p.S335L	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	335	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)	p.S363L(1)|p.S335L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						GCCAAGCTATCGTATGTGCTG	0.662																																						uc001yoq.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1003-1005)TCG>TTG		60 kDa lysophospholipase							25.0	30.0	28.0					14																	104571026		2023	4173	6196	SO:0001583	missense	374569				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity	g.chr14:104571026C>T		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.1004C>T	14.37:g.104571026C>T	ENSP00000450040:p.Ser335Leu					ASPG_uc001yoo.1_Missense_Mutation_p.S363L|ASPG_uc001yop.1_Missense_Mutation_p.S335L|ASPG_uc001yor.1_Missense_Mutation_p.S335L	p.S335L	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN			9	1064	+			335			Asparaginase.		B9EGQ2|Q8IV80	Missense_Mutation	SNP	ENST00000551177.1	37	c.1004C>T	CCDS45170.2	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163684	0.57476	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.23147	1.92;1.92;1.92	4.21	3.32	0.38043	.	0.122427	0.56097	D	0.000026	T	0.42131	0.1189	M	0.65498	2.005	0.41135	D	0.985914	P;D;D;D	0.89917	0.945;1.0;0.999;0.997	B;D;P;P	0.64321	0.309;0.924;0.906;0.876	T	0.28138	-1.0053	10	0.62326	D	0.03	-20.5427	8.1982	0.31409	0.0:0.8854:0.0:0.1146	.	335;335;335;363	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	L	335;363;335;335	ENSP00000450040:S335L;ENSP00000448911:S335L;ENSP00000389003:S335L	ENSP00000299234:S363L	S	+	2	0	ASPG	103640779	0.817000	0.29147	0.997000	0.53966	0.584000	0.36387	1.674000	0.37544	0.752000	0.32923	-0.448000	0.05591	TCG		PASS	0.662	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407005.1	NM_001080464		6	37	6	37	---	---	---	---
IGHV3-74	28408	broad.mit.edu	37	14	107218845	107218845	+	RNA	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr14:107218845C>A	ENST00000424969.2	-	0	417									immunoglobulin heavy variable 3-74																		CAGCCCCTTCCCTGGAGCTTG	0.582																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							89.0	96.0	93.0					14																	107218845		1997	4157	6154			8755							g.chr14:107218845C>A	Z12353		14q32.33	2012-02-08			ENSG00000224650	ENSG00000224650		"""Immunoglobulins / IGH locus"""	5624	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151860		14.37:g.107218845C>A														12		-									RNA	SNP	ENST00000424969.2	37	c.869G>T																																																																																					PASS	0.582	IGHV3-74-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324205.1	NG_001019		23	120	23	120	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28513702	28513702	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr15:28513702C>T	ENST00000261609.7	-	12	1615	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.D503N(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)		TGGTGACCATCAGAATGGGCA	0.532																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(1507-1509)GAT>AAT		hect domain and RLD 2							123.0	103.0	110.0					15																	28513702		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.chr15:28513702C>T	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.1507G>A	15.37:g.28513702C>T	ENSP00000261609:p.Asp503Asn					HERC2_uc001zbl.1_Missense_Mutation_p.D198N	p.D503N	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)	12	1613	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	503			WD 3.			Missense_Mutation	SNP	ENST00000261609.7	37	c.1507G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	17.65	3.442330	0.63067	.	.	ENSG00000128731	ENST00000261609	T	0.79653	-1.29	5.38	5.38	0.77491	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.80894	0.4711	L	0.50333	1.59	0.58432	D	0.999999	P	0.51791	0.948	P	0.46237	0.508	T	0.81172	-0.1054	10	0.42905	T	0.14	.	19.1327	0.93414	0.0:1.0:0.0:0.0	.	503	O95714	HERC2_HUMAN	N	503	ENSP00000261609:D503N	ENSP00000261609:D503N	D	-	1	0	HERC2	26187297	1.000000	0.71417	0.990000	0.47175	0.761000	0.43186	7.438000	0.80431	2.520000	0.84964	0.563000	0.77884	GAT		PASS	0.532	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	65	4	65	---	---	---	---
GJD2	57369	broad.mit.edu	37	15	35045123	35045123	+	Silent	SNP	C	C	A	rs550468450		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr15:35045123C>A	ENST00000290374.4	-	2	998	c.522G>T	c.(520-522)ctG>ctT	p.L174L	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA	NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	174					action potential (GO:0001508)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)	p.L174L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GGTGTGGAGTCAGCTCCTTAA	0.468																																						uc001zis.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(520-522)CTG>CTT		gap junction protein, delta 2, 36kDa							170.0	176.0	174.0					15																	35045123		2201	4298	6499	SO:0001819	synonymous_variant	57369				synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	g.chr15:35045123C>A	AB037509	CCDS10040.1	15q13.1	2008-02-04	2007-11-06	2007-11-06	ENSG00000159248	ENSG00000159248		"""Ion channels / Gap junction proteins (connexins)"""	19154	protein-coding gene	gene with protein product	"""connexin 36"""	607058	"""gap junction protein, alpha 9, 36kDa"""	GJA9		10462698	Standard	NM_020660		Approved	CX36	uc001zis.2	Q9UKL4	OTTHUMG00000129674	ENST00000290374.4:c.522G>T	15.37:g.35045123C>A						uc001zit.1_5'Flank	p.L174L	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)	2	522	-		all_lung(180;9.67e-07)	174			Cytoplasmic (Potential).		Q2M241|Q9P2R0	Silent	SNP	ENST00000290374.4	37	c.522G>T	CCDS10040.1																																																																																				PASS	0.468	GJD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251875.2			27	205	27	205	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42052646	42052646	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr15:42052646G>C	ENST00000570161.1	+	19	7317	c.7317G>C	c.(7315-7317)atG>atC	p.M2439I	MGA_ENST00000566586.1_Missense_Mutation_p.M2230I|MGA_ENST00000545763.1_Missense_Mutation_p.M2230I|MGA_ENST00000219905.7_Missense_Mutation_p.M2439I|MGA_ENST00000389936.4_Missense_Mutation_p.M2400I			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.M2488I(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGTGAAATGAGGGATCTCT	0.433																																						uc010ucy.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(7315-7317)ATG>ATC		MAX-interacting protein isoform 1							116.0	116.0	116.0					15																	42052646		1884	4102	5986	SO:0001583	missense	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42052646G>C	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7317G>C	15.37:g.42052646G>C	ENSP00000457035:p.Met2439Ile					MGA_uc010ucz.1_Missense_Mutation_p.M2230I|MGA_uc010uda.1_Missense_Mutation_p.M1055I	p.M2439I	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	20	7498	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2400			Helix-loop-helix motif.		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	c.7317G>C	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571526	0.86542	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.96200	-3.94;-3.94;-3.94	5.53	5.53	0.82687	.	0.000000	0.64402	D	0.000004	D	0.96488	0.8854	L	0.35644	1.08	0.32385	N	0.554098	D;D;P	0.76494	0.999;0.996;0.936	D;D;P	0.81914	0.995;0.986;0.885	D	0.97038	0.9755	10	0.87932	D	0	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	1055;2230;2439	B4DVS1;F5H7K2;E7ENI0	.;.;.	I	2439;2400;2230	ENSP00000219905:M2439I;ENSP00000374586:M2400I;ENSP00000442467:M2230I	ENSP00000219905:M2439I	M	+	3	0	MGA	39839938	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.159000	0.77483	2.583000	0.87209	0.655000	0.94253	ATG		PASS	0.433	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		5	127	5	127	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44890849	44890849	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr15:44890849C>G	ENST00000261866.7	-	22	3888	c.3872G>C	c.(3871-3873)aGc>aCc	p.S1291T	SPG11_ENST00000558319.1_Missense_Mutation_p.S1291T|SPG11_ENST00000535302.2_Missense_Mutation_p.S1291T|SPG11_ENST00000427534.2_Missense_Mutation_p.S1291T	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1291					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.S1291T(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)		TCTGATAAAGCTGTACTGAGC	0.428																																						uc001ztx.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(3871-3873)AGC>ACC		spatacsin isoform 1							136.0	128.0	131.0					15																	44890849		2198	4298	6496	SO:0001583	missense	80208				cell death	cytosol|integral to membrane|nucleus	protein binding	g.chr15:44890849C>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.3872G>C	15.37:g.44890849C>G	ENSP00000261866:p.Ser1291Thr					SPG11_uc010ueh.1_Missense_Mutation_p.S1291T|SPG11_uc010uei.1_Missense_Mutation_p.S1291T|SPG11_uc001zty.1_Missense_Mutation_p.S20T	p.S1291T	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)	22	3903	-		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)	1291			Cytoplasmic (Potential).		A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	c.3872G>C	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480498	0.26598	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.80123	-1.34;-1.34;-1.34	6.03	0.0937	0.14477	.	0.575382	0.20394	N	0.093181	T	0.66470	0.2792	L	0.44542	1.39	0.09310	N	1	B;B;B	0.18610	0.017;0.029;0.007	B;B;B	0.20577	0.013;0.03;0.013	T	0.53662	-0.8407	10	0.42905	T	0.14	.	1.5128	0.02500	0.1162:0.3149:0.228:0.341	.	1291;1291;1291	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	T	1291	ENSP00000261866:S1291T;ENSP00000445278:S1291T;ENSP00000396110:S1291T	ENSP00000261866:S1291T	S	-	2	0	SPG11	42678141	0.000000	0.05858	0.010000	0.14722	0.962000	0.63368	-0.342000	0.07801	0.005000	0.14708	0.655000	0.94253	AGC		PASS	0.428	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			8	92	8	92	---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48829910	48829910	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr15:48829910T>C	ENST00000316623.5	-	7	1089	c.634A>G	c.(634-636)Aca>Gca	p.T212A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	212	TB 1.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.T212A(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGGCCGACTGTGGCACAGCAG	0.577																																						uc001zwx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(634-636)ACA>GCA		fibrillin 1 precursor							76.0	77.0	77.0					15																	48829910		2197	4296	6493	SO:0001583	missense	2200				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr15:48829910T>C	X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.634A>G	15.37:g.48829910T>C	ENSP00000325527:p.Thr212Ala						p.T212A	NM_000138	NP_000129	P35555	FBN1_HUMAN		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)	7	962	-		all_lung(180;0.00279)	212			TB 1.		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	c.634A>G	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.680972	0.88542	.	.	ENSG00000166147	ENST00000316623	D	0.92858	-3.12	5.44	5.44	0.79542	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.95265	0.8464	M	0.66939	2.045	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	D	0.95155	0.8276	10	0.51188	T	0.08	.	15.6649	0.77221	0.0:0.0:0.0:1.0	.	212	P35555	FBN1_HUMAN	A	212	ENSP00000325527:T212A	ENSP00000325527:T212A	T	-	1	0	FBN1	46617202	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.868000	0.87116	2.281000	0.76405	0.533000	0.62120	ACA		PASS	0.577	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1			22	160	22	160	---	---	---	---
MAPK6	5597	broad.mit.edu	37	15	52357078	52357078	+	Missense_Mutation	SNP	C	C	G	rs530931440		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr15:52357078C>G	ENST00000261845.5	+	6	2854	c.2047C>G	c.(2047-2049)Cac>Gac	p.H683D	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	683					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)	p.H683D(1)		breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CCCACAGTTTCACAGTCCAGT	0.468																																						uc002abp.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(1)	4						c.(2047-2049)CAC>GAC		mitogen-activated protein kinase 6							67.0	60.0	62.0					15																	52357078		2195	4293	6488	SO:0001583	missense	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52357078C>G	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.2047C>G	15.37:g.52357078C>G	ENSP00000261845:p.His683Asp						p.H683D	NM_002748	NP_002739	Q16659	MK06_HUMAN		all cancers(107;0.0028)	6	2841	+			683					B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	ENST00000261845.5	37	c.2047C>G	CCDS10147.1	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928482	0.18131	.	.	ENSG00000069956	ENST00000261845	T	0.69435	-0.4	5.05	5.05	0.67936	.	0.187532	0.56097	D	0.000025	T	0.55481	0.1923	N	0.20986	0.625	0.47905	D	0.999546	B	0.02656	0.0	B	0.01281	0.0	T	0.49890	-0.8891	10	0.36615	T	0.2	-6.5626	18.5817	0.91174	0.0:1.0:0.0:0.0	.	683	Q16659	MK06_HUMAN	D	683	ENSP00000261845:H683D	ENSP00000261845:H683D	H	+	1	0	MAPK6	50144370	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.565000	0.60836	2.419000	0.82065	0.543000	0.68304	CAC		PASS	0.468	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	NM_002748		8	74	8	74	---	---	---	---
TBC1D21	161514	broad.mit.edu	37	15	74166053	74166053	+	Start_Codon_SNP	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr15:74166053G>A	ENST00000300504.2	+	1	86	c.3G>A	c.(1-3)atG>atA	p.M1I	RP11-24D15.1_ENST00000562667.1_RNA|TBC1D21_ENST00000535547.2_Start_Codon_SNP_p.M1I|TBC1D21_ENST00000562056.1_Start_Codon_SNP_p.M1I|RP11-24D15.1_ENST00000569137.1_RNA	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	1						acrosomal vesicle (GO:0001669)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)	p.M1I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CAGGGGCCATGACCACCCTCT	0.552											OREG0023267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002avz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1-3)ATG>ATA		TBC1 domain family, member 21							179.0	112.0	135.0					15																	74166053		2198	4297	6495	SO:0001582	initiator_codon_variant	161514					intracellular	Rab GTPase activator activity	g.chr15:74166053G>A	BC033516	CCDS10252.1, CCDS66822.1	15q24	2013-07-09			ENSG00000167139	ENSG00000167139			28536	protein-coding gene	gene with protein product	"""male germ cell-specific expressed, containing a RabGAP domain"""					21128978	Standard	XR_243080		Approved	MGC34741, MgcRabGAP	uc002avz.3	Q8IYX1	OTTHUMG00000137594	ENST00000300504.2:c.3G>A	15.37:g.74166053G>A	ENSP00000300504:p.Met1Ile		OREG0023267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1150	TBC1D21_uc010ulc.1_Missense_Mutation_p.M1I	p.M1I	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN			1	86	+			1					B9A6M2	Missense_Mutation	SNP	ENST00000300504.2	37	c.3G>A	CCDS10252.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419846	0.83559	.	.	ENSG00000167139	ENST00000300504;ENST00000535547	T;T	0.16073	2.6;2.37	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000015	T	0.30386	0.0763	.	.	.	0.80722	D	1	P;P	0.41159	0.525;0.74	P;P	0.48425	0.48;0.577	T	0.01262	-1.1402	9	0.87932	D	0	.	15.1966	0.73096	0.0:0.0:1.0:0.0	.	1;1	B9A6M2;Q8IYX1	.;TBC21_HUMAN	I	1	ENSP00000300504:M1I;ENSP00000439325:M1I	ENSP00000300504:M1I	M	+	3	0	TBC1D21	71953106	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	4.156000	0.58138	2.630000	0.89119	0.563000	0.77884	ATG		PASS	0.552	TBC1D21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268994.1	NM_153356	Missense_Mutation	3	24	3	24	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	90969481	90969481	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr15:90969481G>C	ENST00000268182.5	+	3	419	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	99	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)	p.E99Q(1)		breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CTATGATCGAGAACAGACCAG	0.423																																						uc002bpl.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(295-297)GAA>CAA		IQ motif containing GTPase activating protein 1							118.0	112.0	114.0					15																	90969481		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:90969481G>C	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.295G>C	15.37:g.90969481G>C	ENSP00000268182:p.Glu99Gln						p.E99Q	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		3	396	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		99			CH.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.295G>C	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987473	0.93106	.	.	ENSG00000140575	ENST00000268182	T	0.41400	1.0	4.87	4.87	0.63330	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	T	0.57519	0.2059	M	0.61703	1.905	0.80722	D	1	P	0.52842	0.956	P	0.57679	0.825	T	0.58075	-0.7700	10	0.48119	T	0.1	-29.5996	17.1801	0.86852	0.0:0.0:1.0:0.0	.	99	P46940	IQGA1_HUMAN	Q	99	ENSP00000268182:E99Q	ENSP00000268182:E99Q	E	+	1	0	IQGAP1	88770485	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.563000	0.98148	2.544000	0.85801	0.655000	0.94253	GAA		PASS	0.423	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		3	77	3	77	---	---	---	---
SRRM2	23524	broad.mit.edu	37	16	2806571	2806571	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr16:2806571G>A	ENST00000301740.8	+	2	755	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	69					mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.R69Q(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTCGAGCTGCGATGCCTCGAG	0.627																																						uc002crk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(205-207)CGA>CAA		splicing coactivator subunit SRm300							49.0	52.0	51.0					16																	2806571		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2806571G>A	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.206G>A	16.37:g.2806571G>A	ENSP00000301740:p.Arg69Gln					SRRM2_uc002crj.1_Intron|SRRM2_uc002crl.1_Missense_Mutation_p.R69Q|SRRM2_uc010bsu.1_Intron	p.R69Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			2	755	+			69			Potential.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.206G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383619	0.61845	.	.	ENSG00000167978	ENST00000301740;ENST00000382301	T	0.23754	1.89	4.2	4.2	0.49525	mRNA splicing factor, Cwf21 (1);	0.000000	0.36409	N	0.002601	T	0.25082	0.0609	N	0.10837	0.055	0.25305	N	0.989248	D	0.76494	0.999	P	0.62813	0.907	T	0.03761	-1.1006	10	0.62326	D	0.03	-6.5634	8.0803	0.30741	0.1105:0.0:0.8895:0.0	.	69	Q9UQ35	SRRM2_HUMAN	Q	69	ENSP00000301740:R69Q	ENSP00000301740:R69Q	R	+	2	0	SRRM2	2746572	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.936000	0.75892	2.315000	0.78130	0.555000	0.69702	CGA		PASS	0.627	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			8	100	8	100	---	---	---	---
NLRC3	197358	broad.mit.edu	37	16	3613598	3613598	+	RNA	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr16:3613598G>A	ENST00000301749.7	-	0	1745				NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.S494L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCCACTGACGATGCCAACGT	0.582																																						uc010btn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(1339-1341)TCG>TTG		NOD3 protein							44.0	45.0	45.0					16																	3613598		2080	4209	6289			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3613598G>A	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613598G>A							p.S447L	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	1751	-			447			NACHT.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37	c.1340C>T		.	.	.	.	.	.	.	.	.	.	G	0.133	-1.110790	0.01813	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.35	5.35	0.76521	.	0.761917	0.12416	N	0.470813	T	0.72787	0.3504	.	.	.	0.09310	N	1	B	0.18461	0.028	B	0.13407	0.009	T	0.57900	-0.7731	9	0.24483	T	0.36	.	12.3379	0.55077	0.0:0.17:0.83:0.0	.	494	C9JLH9	.	L	447;447;447;494;429	ENSP00000301749:S447L;ENSP00000352039:S447L;ENSP00000414415:S494L;ENSP00000323897:S429L	ENSP00000301749:S447L	S	-	2	0	NLRC3	3553599	0.045000	0.20229	0.041000	0.18516	0.234000	0.25298	2.520000	0.45554	2.503000	0.84419	0.655000	0.94253	TCG		PASS	0.582	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		5	20	5	20	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18861663	18861663	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr16:18861663C>T	ENST00000446231.2	-	34	5591	c.5179G>A	c.(5179-5181)Gaa>Aaa	p.E1727K	SMG1_ENST00000389467.3_Missense_Mutation_p.E1727K			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1727	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E1727K(1)|p.E1723K(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAACTCCTTCAGTTGCACTT	0.408																																						uc002dfm.2																			2	Substitution - Missense(2)		lung(2)	breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(5179-5181)GAA>AAA		PI-3-kinase-related kinase SMG-1							108.0	101.0	103.0					16																	18861663		1851	4102	5953	SO:0001583	missense	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18861663C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5179G>A	16.37:g.18861663C>T	ENSP00000402515:p.Glu1727Lys					SMG1_uc010bwb.2_Missense_Mutation_p.E1587K|SMG1_uc010bwa.2_Missense_Mutation_p.E458K|SMG1_uc002dfo.3_Missense_Mutation_p.E25K	p.E1727K	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			34	5542	-			1727			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	ENST00000446231.2	37	c.5179G>A	CCDS45430.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970598	0.74246	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.66460	-0.21;-0.21	5.93	5.93	0.95920	PIK-related kinase (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.46288	0.1385	N	0.08118	0	0.54753	D	0.999987	P;P	0.40731	0.728;0.608	B;B	0.32980	0.156;0.108	T	0.46938	-0.9155	10	0.20519	T	0.43	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	1587;1727	Q96Q15-2;Q96Q15	.;SMG1_HUMAN	K	1727	ENSP00000402515:E1727K;ENSP00000374118:E1727K	ENSP00000374118:E1727K	E	-	1	0	SMG1	18769164	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.805000	0.96524	0.655000	0.94253	GAA		PASS	0.408	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		4	76	4	76	---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21033341	21033341	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr16:21033341G>C	ENST00000261383.3	-	40	5727	c.5728C>G	c.(5728-5730)Ccc>Gcc	p.P1910A	DNAH3_ENST00000415178.1_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1910					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.P1910A(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTGGATGGGAGATGTCTGG	0.488																																						uc010vbe.1																			2	Substitution - Missense(2)		lung(2)	ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(5728-5730)CCC>GCC		dynein, axonemal, heavy chain 3							135.0	109.0	118.0					16																	21033341		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21033341G>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5728C>G	16.37:g.21033341G>C	ENSP00000261383:p.Pro1910Ala						p.P1910A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	40	5728	-			1910					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5728C>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047087	0.36085	.	.	ENSG00000158486	ENST00000261383	T	0.26810	1.71	4.92	4.92	0.64577	.	0.070546	0.56097	D	0.000025	T	0.25082	0.0609	L	0.48986	1.54	0.80722	D	1	B	0.18741	0.03	B	0.14023	0.01	T	0.04930	-1.0917	10	0.62326	D	0.03	.	12.0593	0.53555	0.0919:0.0:0.9081:0.0	.	1910	Q8TD57	DYH3_HUMAN	A	1910	ENSP00000261383:P1910A	ENSP00000261383:P1910A	P	-	1	0	DNAH3	20940842	1.000000	0.71417	1.000000	0.80357	0.631000	0.37964	3.226000	0.51254	2.265000	0.75225	0.462000	0.41574	CCC		PASS	0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		7	66	7	66	---	---	---	---
CLN3	1201	broad.mit.edu	37	16	28497729	28497729	+	Missense_Mutation	SNP	C	C	T	rs370603922		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr16:28497729C>T	ENST00000569430.1	-	10	1435	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	CLN3_ENST00000565316.1_Missense_Mutation_p.G206S|CLN3_ENST00000359984.7_Missense_Mutation_p.G206S|CLN3_ENST00000354630.5_Missense_Mutation_p.G206S|CLN3_ENST00000568224.1_Missense_Mutation_p.G128S|CLN3_ENST00000333496.9_Missense_Mutation_p.G182S|CLN3_ENST00000355477.5_Intron|CLN3_ENST00000360019.2_Missense_Mutation_p.G206S|CLN3_ENST00000357076.5_Intron|CLN3_ENST00000567963.1_Missense_Mutation_p.G206S|CLN3_ENST00000357857.9_Missense_Mutation_p.G152S|CLN3_ENST00000357806.7_Intron|CLN3_ENST00000395653.4_Missense_Mutation_p.G106S|CLN3_ENST00000535392.1_Missense_Mutation_p.G128S			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	206					action potential (GO:0001508)|amyloid precursor protein catabolic process (GO:0042987)|arginine transport (GO:0015809)|associative learning (GO:0008306)|autophagic vacuole fusion (GO:0000046)|cell death (GO:0008219)|cellular amino acid metabolic process (GO:0006520)|ceramide metabolic process (GO:0006672)|cytosolic calcium ion homeostasis (GO:0051480)|galactosylceramide metabolic process (GO:0006681)|globoside metabolic process (GO:0001575)|glucosylceramide metabolic process (GO:0006678)|ionotropic glutamate receptor signaling pathway (GO:0035235)|lysosomal lumen acidification (GO:0007042)|lysosomal lumen pH elevation (GO:0035752)|lysosome organization (GO:0007040)|macroautophagy (GO:0016236)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of macroautophagy (GO:0016242)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteolysis (GO:0045861)|neuromuscular process controlling balance (GO:0050885)|neurotransmitter metabolic process (GO:0042133)|protein catabolic process (GO:0030163)|protein processing (GO:0016485)|receptor-mediated endocytosis (GO:0006898)|sphingomyelin metabolic process (GO:0006684)|vacuolar transport (GO:0007034)|vesicle transport along microtubule (GO:0047496)	autophagic vacuole (GO:0005776)|caveola (GO:0005901)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	unfolded protein binding (GO:0051082)	p.G206S(2)		breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGGGAGAGGCCGGCCTGGGTG	0.687													.|||	1	0.000199681	0.0	0.0014	5008	,	,		19236	0.0		0.0	False		,,,				2504	0.0					uc002dpo.2																			2	Substitution - Missense(2)		lung(2)		0						c.(616-618)GGC>AGC		ceroid-lipofuscinosis, neuronal 3		C	SER/GLY,SER/GLY	1,4389	2.1+/-5.4	0,1,2194	24.0	28.0	27.0		616,616	5.6	1.0	16		27	0,8600		0,0,4300	no	missense,missense	CLN3	NM_000086.2,NM_001042432.1	56,56	0,1,6494	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging,probably-damaging	206/439,206/439	28497729	1,12989	2195	4300	6495	SO:0001583	missense	1201				amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding	g.chr16:28497729C>T	U32680	CCDS10632.1, CCDS73852.1, CCDS73853.1, CCDS73854.1, CCDS73855.1	16p12	2014-09-17	2008-07-29		ENSG00000188603	ENSG00000188603			2074	protein-coding gene	gene with protein product	"""juvenile neuronal ceroid lipofuscinosis"""	607042	"""Batten, Spielmeyer-Vogt disease"""	BTS		18317235	Standard	NM_001042432		Approved	JNCL	uc002dpp.3	Q13286	OTTHUMG00000097024	ENST00000569430.1:c.616G>A	16.37:g.28497729C>T	ENSP00000454229:p.Gly206Ser					uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.G128S|CLN3_uc010vcu.1_Missense_Mutation_p.G106S|CLN3_uc002dpn.2_Intron|CLN3_uc002dpm.2_Missense_Mutation_p.G152S|CLN3_uc010vcv.1_Missense_Mutation_p.G182S|CLN3_uc010byd.2_Missense_Mutation_p.G206S|CLN3_uc002dpp.2_Missense_Mutation_p.G206S|CLN3_uc002dpt.1_Missense_Mutation_p.G106S|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Missense_Mutation_p.G206S|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Missense_Mutation_p.G152S|CLN3_uc002dqa.2_Missense_Mutation_p.G257S|CLN3_uc010vcx.1_Missense_Mutation_p.G106S|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_RNA	p.G206S	NM_000086	NP_000077	Q13286	CLN3_HUMAN			8	939	-			206					B2R7J1|O00668|O95089|Q549S9|Q9UP09|Q9UP11|Q9UP12|Q9UP13|Q9UP14	Missense_Mutation	SNP	ENST00000569430.1	37	c.616G>A	CCDS10632.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.237886	0.79800	2.28E-4	0.0	ENSG00000188603	ENST00000535392;ENST00000359984;ENST00000360019;ENST00000354630;ENST00000357857;ENST00000395653	T;T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23;0.23	5.6	5.6	0.85130	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;1.0;0.994	T	0.80928	-0.1163	10	0.41790	T	0.15	-20.6091	17.1168	0.86691	0.0:1.0:0.0:0.0	.	106;182;206;206;257;106;206	B4DFT5;B4DXL3;Q13286-3;Q13286-4;B4DIA8;B4DMY6;Q13286	.;.;.;.;.;.;CLN3_HUMAN	S	128;206;206;206;152;106	ENSP00000443221:G128S;ENSP00000353073:G206S;ENSP00000353116:G206S;ENSP00000346650:G206S;ENSP00000350523:G152S;ENSP00000379014:G106S	ENSP00000346650:G206S	G	-	1	0	CLN3	28405230	1.000000	0.71417	0.986000	0.45419	0.163000	0.22366	6.412000	0.73303	2.654000	0.90174	0.651000	0.88453	GGC		PASS	0.687	CLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214115.2			6	48	6	48	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30712191	30712191	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr16:30712191C>A	ENST00000262518.4	+	3	431	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	RNU6-1043P_ENST00000410355.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.Q16K|RP11-146F11.1_ENST00000568500.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.Q16K|RP11-146F11.1_ENST00000564775.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	16					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.Q16K(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCAGTCCTACAGACACAGGT	0.532																																						uc002dze.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(46-48)CAG>AAG		Snf2-related CBP activator protein							67.0	67.0	67.0					16																	30712191		1928	4147	6075	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30712191C>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.46C>A	16.37:g.30712191C>A	ENSP00000262518:p.Gln16Lys						p.Q16K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		3	431	+			16					B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.46C>A	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	14.51	2.556172	0.45487	.	.	ENSG00000080603	ENST00000411466;ENST00000262518;ENST00000395059;ENST00000344771	T;T;T;T	0.76316	-1.01;-1.0;-1.0;-1.01	5.1	5.1	0.69264	.	.	.	.	.	T	0.60287	0.2257	N	0.08118	0	0.31861	N	0.62098	B	0.19200	0.034	B	0.16289	0.015	T	0.57370	-0.7823	9	0.19147	T	0.46	-0.9266	15.5389	0.76024	0.0:1.0:0.0:0.0	.	16	Q6ZRS2	SRCAP_HUMAN	K	16	ENSP00000405186:Q16K;ENSP00000262518:Q16K;ENSP00000378499:Q16K;ENSP00000343042:Q16K	ENSP00000262518:Q16K	Q	+	1	0	SRCAP	30619692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.780000	0.55386	2.640000	0.89533	0.561000	0.74099	CAG		PASS	0.532	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		3	54	3	54	---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48250159	48250159	+	Missense_Mutation	SNP	C	C	G	rs199839251		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr16:48250159C>G	ENST00000394747.1	-	6	1166	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	ABCC11_ENST00000537808.1_Missense_Mutation_p.E273Q|ABCC11_ENST00000356608.2_Missense_Mutation_p.E273Q|ABCC11_ENST00000353782.5_Missense_Mutation_p.E273Q|ABCC11_ENST00000394748.1_Missense_Mutation_p.E273Q	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	273	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				organic anion transport (GO:0015711)|purine nucleotide transport (GO:0015865)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)|purine nucleotide transmembrane transporter activity (GO:0015216)	p.E273Q(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)			Conjugated Estrogens(DB00286)|Folic Acid(DB00158)|Indomethacin(DB00328)|Methotrexate(DB00563)|Probenecid(DB01032)	CACACCCCTTCAAACAGGTAG	0.502																																						uc002eff.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(817-819)GAA>CAA		ATP-binding cassette, sub-family C, member 11							187.0	169.0	175.0					16																	48250159		2201	4300	6501	SO:0001583	missense	85320	Cerumen_Type				integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48250159C>G	AF367202	CCDS10732.1, CCDS10733.1	16q12	2012-03-14			ENSG00000121270	ENSG00000121270		"""ATP binding cassette transporters / subfamily C"""	14639	protein-coding gene	gene with protein product		607040				11483364, 11435397	Standard	NM_033151		Approved	MRP8	uc002efg.1	Q96J66	OTTHUMG00000133146	ENST00000394747.1:c.817G>C	16.37:g.48250159C>G	ENSP00000378230:p.Glu273Gln					ABCC11_uc002efg.1_Missense_Mutation_p.E273Q|ABCC11_uc002efh.1_Missense_Mutation_p.E273Q|ABCC11_uc010vgk.1_5'Flank|ABCC11_uc010vgl.1_Missense_Mutation_p.E273Q	p.E273Q	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN			6	1167	-		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)	273			ABC transmembrane type-1 1.|Helical; (Potential).		Q8TDJ0|Q96JA6|Q9BX80	Missense_Mutation	SNP	ENST00000394747.1	37	c.817G>C	CCDS10732.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530103	0.64860	.	.	ENSG00000121270	ENST00000353782;ENST00000356608;ENST00000394748;ENST00000394747;ENST00000537808	D;D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86;-2.86	4.66	4.66	0.58398	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.119955	0.56097	D	0.000039	D	0.94208	0.8141	M	0.77820	2.39	0.39114	D	0.961522	D;B	0.76494	0.999;0.115	D;B	0.83275	0.996;0.345	D	0.92946	0.6376	10	0.20046	T	0.44	-7.7022	13.4152	0.60963	0.0:1.0:0.0:0.0	.	273;273	Q96J66-2;Q96J66	.;ABCCB_HUMAN	Q	273	ENSP00000311326:E273Q;ENSP00000349017:E273Q;ENSP00000378231:E273Q;ENSP00000378230:E273Q;ENSP00000438530:E273Q	ENSP00000311326:E273Q	E	-	1	0	ABCC11	46807660	0.920000	0.31207	0.808000	0.32385	0.372000	0.29890	1.468000	0.35332	2.303000	0.77524	0.655000	0.94253	GAA		PASS	0.502	ABCC11-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429984.1	NM_032583		6	179	6	179	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72992324	72992324	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr16:72992324C>G	ENST00000268489.5	-	2	2393	c.1721G>C	c.(1720-1722)aGt>aCt	p.S574T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	574					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.S574T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GACGCCCTCACTGTTAAAGCT	0.507																																						uc002fck.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1720-1722)AGT>ACT		zinc finger homeobox 3 isoform A							101.0	95.0	97.0					16																	72992324		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992324C>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1721G>C	16.37:g.72992324C>G	ENSP00000268489:p.Ser574Thr					ZFHX3_uc002fcl.2_Intron	p.S574T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	2394	-		Ovarian(137;0.13)	574					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1721G>C	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	5.588	0.293242	0.10567	.	.	ENSG00000140836	ENST00000268489	T	0.73363	-0.74	5.04	5.04	0.67666	.	0.101878	0.43416	D	0.000576	T	0.52661	0.1748	N	0.14661	0.345	0.80722	D	1	B	0.19817	0.039	B	0.14578	0.011	T	0.49021	-0.8982	10	0.11485	T	0.65	.	9.2706	0.37668	0.0:0.8325:0.0:0.1675	.	574	Q15911	ZFHX3_HUMAN	T	574	ENSP00000268489:S574T	ENSP00000268489:S574T	S	-	2	0	ZFHX3	71549825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.436000	0.44819	2.505000	0.84491	0.650000	0.86243	AGT		PASS	0.507	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		11	78	11	78	---	---	---	---
PLCG2	5336	broad.mit.edu	37	16	81973631	81973631	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr16:81973631C>G	ENST00000359376.3	+	30	3662	c.3448C>G	c.(3448-3450)Cat>Gat	p.H1150D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1150	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.H1150D(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTTTCTTGCTCATGCCACTTA	0.423																																						uc002fgt.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(3448-3450)CAT>GAT		phospholipase C, gamma 2							136.0	127.0	130.0					16																	81973631		1883	4122	6005	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81973631C>G		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.3448C>G	16.37:g.81973631C>G	ENSP00000352336:p.His1150Asp						p.H1150D	NM_002661	NP_002652	P16885	PLCG2_HUMAN			30	3600	+			1150			C2.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.3448C>G	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.334942	0.81801	.	.	ENSG00000197943	ENST00000359376	T	0.68765	-0.35	5.75	5.75	0.90469	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.150016	0.64402	D	0.000006	T	0.61986	0.2391	L	0.33245	0.995	0.80722	D	1	P	0.43231	0.801	B	0.40741	0.339	T	0.66783	-0.5836	10	0.87932	D	0	.	19.9598	0.97242	0.0:1.0:0.0:0.0	.	1150	P16885	PLCG2_HUMAN	D	1150	ENSP00000352336:H1150D	ENSP00000352336:H1150D	H	+	1	0	PLCG2	80531132	1.000000	0.71417	0.955000	0.39395	0.998000	0.95712	4.548000	0.60718	2.716000	0.92895	0.655000	0.94253	CAT		PASS	0.423	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			7	149	7	149	---	---	---	---
INPP5K	51763	broad.mit.edu	37	17	1416780	1416780	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:1416780G>C	ENST00000421807.2	-	3	616	c.228C>G	c.(226-228)ctC>ctG	p.L76L	INPP5K_ENST00000397335.3_Intron|INPP5K_ENST00000320345.6_5'UTR|INPP5K_ENST00000406424.4_5'UTR|INPP5K_ENST00000542125.1_Silent_p.L76L	NM_016532.3	NP_057616.2	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	76	Catalytic. {ECO:0000255}.				actin cytoskeleton organization (GO:0030036)|cellular response to cAMP (GO:0071320)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hormone stimulus (GO:0032870)|cellular response to insulin stimulus (GO:0032869)|cellular response to tumor necrosis factor (GO:0071356)|dephosphorylation (GO:0016311)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inositol phosphate dephosphorylation (GO:0046855)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of dephosphorylation (GO:0035305)|negative regulation of glucose transport (GO:0010829)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of renal water transport (GO:2001153)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urine volume (GO:0035810)|protein targeting to plasma membrane (GO:0072661)|regulation of glycogen biosynthetic process (GO:0005979)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	inositol bisphosphate phosphatase activity (GO:0016312)|inositol trisphosphate phosphatase activity (GO:0046030)|inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|lipid phosphatase activity (GO:0042577)|phosphatidylinositol phosphate 5-phosphatase activity (GO:0034595)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)|vasopressin receptor activity (GO:0005000)	p.L76L(1)		endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						GCACATCCATGAGGAAACTGC	0.493																																						uc002fsr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(226-228)CTC>CTG		inositol polyphosphate-5-phosphatase K isoform							210.0	188.0	195.0					17																	1416780		2203	4300	6503	SO:0001819	synonymous_variant	51763				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding	g.chr17:1416780G>C		CCDS11004.1, CCDS11005.1	17p13.3	2008-09-09			ENSG00000132376	ENSG00000132376			33882	protein-coding gene	gene with protein product	"""skeletal muscle and kidney enriched inositol phosphatase"""	607875				10753883, 12536145	Standard	NM_016532		Approved	SKIP	uc002fsr.3	Q9BT40	OTTHUMG00000150648	ENST00000421807.2:c.228C>G	17.37:g.1416780G>C						INPP5K_uc002fss.2_5'UTR|INPP5K_uc002fsq.2_5'UTR|INPP5K_uc010cjr.2_5'UTR|INPP5K_uc010vql.1_Intron|INPP5K_uc010vqm.1_Silent_p.L76L|INPP5K_uc010cjs.2_Intron	p.L76L	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN			3	617	-			76			Catalytic (Potential).		B2R6I2|B2R750|D3DTH8|Q15733|Q9NPJ5|Q9P2R5	Silent	SNP	ENST00000421807.2	37	c.228C>G	CCDS11004.1																																																																																				PASS	0.493	INPP5K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319381.4			4	211	4	211	---	---	---	---
TEKT1	83659	broad.mit.edu	37	17	6718550	6718550	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:6718550G>A	ENST00000338694.2	-	5	690	c.561C>T	c.(559-561)atC>atT	p.I187I	TEKT1_ENST00000535086.1_Silent_p.I41I	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	187						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.I187I(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)				GCGAGAAGCAGATATCATCTA	0.488																																						uc002gdt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(559-561)ATC>ATT		tektin 1							238.0	214.0	222.0					17																	6718550		2203	4300	6503	SO:0001819	synonymous_variant	83659				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:6718550G>A		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.561C>T	17.37:g.6718550G>A						TEKT1_uc010vth.1_Silent_p.I41I	p.I187I	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN			5	671	-		Myeloproliferative disorder(207;0.0255)	187					D3DTM7	Silent	SNP	ENST00000338694.2	37	c.561C>T	CCDS11083.1																																																																																				PASS	0.488	TEKT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219867.2	NM_053285		16	159	16	159	---	---	---	---
GAS7	8522	broad.mit.edu	37	17	9923193	9923193	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:9923193G>A	ENST00000432992.2	-	2	365	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	GAS7_ENST00000540214.1_Missense_Mutation_p.P5S|GAS7_ENST00000579158.1_Missense_Mutation_p.P5S|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000437099.2_Missense_Mutation_p.P5S|GAS7_ENST00000585266.1_Missense_Mutation_p.P9S|GAS7_ENST00000323816.4_Missense_Mutation_p.P9S|GAS7_ENST00000396115.2_Missense_Mutation_p.P5S|GAS7_ENST00000542249.1_Missense_Mutation_p.P5S	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	69	Poly-Pro.				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.P69S(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						TCTCCCGGCGGAGGGGGGACC	0.542			T	MLL	AML*																																	uc002gmg.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		1	Substitution - Missense(1)		lung(1)	lung(1)|pancreas(1)	2						c.(205-207)CCG>TCG		growth arrest-specific 7 isoform c							40.0	45.0	43.0					17																	9923193		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9923193G>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.205C>T	17.37:g.9923193G>A	ENSP00000407552:p.Pro69Ser					GAS7_uc010vvd.1_Missense_Mutation_p.P21S|GAS7_uc002gmi.2_Missense_Mutation_p.P5S|GAS7_uc002gmj.1_Missense_Mutation_p.P9S|GAS7_uc010coh.1_Missense_Mutation_p.P9S	p.P69S	NM_201433	NP_958839	O60861	GAS7_HUMAN			2	366	-			69			Poly-Pro.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.205C>T	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938375	0.34189	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000540214;ENST00000537970	T;T	0.48836	2.01;0.8	5.02	5.02	0.67125	Src homology-3 domain (1);WW/Rsp5/WWP (1);	0.264686	0.32488	N	0.006026	T	0.26340	0.0643	N	0.04508	-0.205	0.80722	D	1	B;B;B	0.20052	0.041;0.008;0.008	B;B;B	0.19391	0.025;0.011;0.011	T	0.10776	-1.0615	9	.	.	.	-5.6633	15.3829	0.74673	0.0:0.0:1.0:0.0	.	21;9;69	B7Z2L1;A8KAC2;O60861	.;.;GAS7_HUMAN	S	69;9;8;5;9	ENSP00000379421:P9S;ENSP00000446214:P5S	.	P	-	1	0	GAS7	9863918	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.593000	0.67550	2.620000	0.88729	0.563000	0.77884	CCG		PASS	0.542	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		16	76	16	76	---	---	---	---
MYH8	4626	broad.mit.edu	37	17	10307706	10307706	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:10307706C>G	ENST00000403437.2	-	22	2723	c.2629G>C	c.(2629-2631)Gag>Cag	p.E877Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	877					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.E877Q(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTTTTTCCTCTAGCTCCTTC	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(3)|breast(2)	11						c.(2629-2631)GAG>CAG		myosin, heavy chain 8, skeletal muscle,							152.0	137.0	142.0					17																	10307706		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10307706C>G		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.2629G>C	17.37:g.10307706C>G	ENSP00000384330:p.Glu877Gln					uc002gml.1_Intron	p.E877Q	NM_002472	NP_002463	P13535	MYH8_HUMAN			22	2724	-			877			Potential.		Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.2629G>C	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.887570	0.91814	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.84730	-1.89	5.31	5.31	0.75309	.	0.000000	0.41938	U	0.000786	D	0.91764	0.7395	M	0.92367	3.3	0.58432	D	0.999997	P	0.50819	0.939	P	0.49012	0.598	D	0.93614	0.6941	10	0.87932	D	0	.	19.1738	0.93594	0.0:1.0:0.0:0.0	.	877	P13535	MYH8_HUMAN	Q	877	ENSP00000384330:E877Q	ENSP00000252173:E877Q	E	-	1	0	MYH8	10248431	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.585000	0.82584	2.764000	0.94973	0.655000	0.94253	GAG		PASS	0.438	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		10	83	10	83	---	---	---	---
FBXW10	10517	broad.mit.edu	37	17	18682174	18682174	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:18682174A>G	ENST00000395665.4	+	14	2943	c.2722A>G	c.(2722-2724)Ata>Gta	p.I908V	TVP23B_ENST00000574226.1_5'Flank|FBXW10_ENST00000395667.1_Missense_Mutation_p.I907V|TVP23B_ENST00000307767.8_5'Flank|TVP23B_ENST00000476139.1_5'Flank|FBXW10_ENST00000301938.4_Missense_Mutation_p.I855V|FBXW10_ENST00000308799.4_Missense_Mutation_p.I917V			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	908								p.I907V(1)		NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CCAGTCCACCATACCCCAGCC	0.502																																						uc002guk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2722-2724)ATA>GTA		F-box and WD-40 domain protein 10							94.0	97.0	96.0					17																	18682174		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18682174A>G	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.2722A>G	17.37:g.18682174A>G	ENSP00000379025:p.Ile908Val					FBXW10_uc002guj.2_Missense_Mutation_p.I907V|FBXW10_uc002gul.2_Missense_Mutation_p.I917V|FBXW10_uc010cqh.1_Missense_Mutation_p.I855V|FAM18B_uc002gum.2_5'Flank	p.I908V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN			14	2954	+			908					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.2722A>G	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	A	0.130	-1.114604	0.01799	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04	3.62	1.33	0.21861	.	0.503230	0.13953	N	0.351343	T	0.68412	0.2998	L	0.54323	1.7	0.09310	N	1	B;B;B;B	0.18310	0.001;0.027;0.0;0.011	B;B;B;B	0.15052	0.004;0.012;0.002;0.007	T	0.55366	-0.8152	10	0.40728	T	0.16	.	5.4999	0.16823	0.7415:0.0:0.1015:0.157	.	855;917;908;907	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	V	907;917;855;908	ENSP00000379026:I907V;ENSP00000310382:I917V;ENSP00000306937:I855V;ENSP00000379025:I908V	ENSP00000306937:I855V	I	+	1	0	FBXW10	18622899	0.995000	0.38212	0.751000	0.31187	0.071000	0.16799	2.723000	0.47277	-0.275000	0.09219	-2.302000	0.00260	ATA		PASS	0.502	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		9	203	9	203	---	---	---	---
ERAL1	26284	broad.mit.edu	37	17	27182147	27182147	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:27182147C>A	ENST00000254928.5	+	1	192	c.95C>A	c.(94-96)cCt>cAt	p.P32H	ERAL1_ENST00000578001.1_3'UTR|FAM222B_ENST00000583953.1_5'Flank	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	32					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)	p.P32H(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CGGGTGATCCCTTTTTCCTCA	0.627																																						uc002hcy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(94-96)CCT>CAT		Era-like 1							89.0	77.0	81.0					17																	27182147		2203	4300	6503	SO:0001583	missense	26284				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding	g.chr17:27182147C>A	AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.95C>A	17.37:g.27182147C>A	ENSP00000254928:p.Pro32His					ERAL1_uc002hcx.1_Missense_Mutation_p.P32H|ERAL1_uc002hcz.1_RNA|ERAL1_uc002hda.1_5'Flank|ERAL1_uc002hdb.1_5'Flank	p.P32H	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)		1	105	+	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		32					B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	ENST00000254928.5	37	c.95C>A	CCDS11244.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.245562	0.22796	.	.	ENSG00000132591	ENST00000254928	.	.	.	4.95	1.59	0.23543	.	0.610938	0.16156	N	0.227002	T	0.33527	0.0866	L	0.36672	1.1	0.09310	N	1	P;D	0.55385	0.553;0.971	B;P	0.50378	0.343;0.639	T	0.09952	-1.0651	9	0.59425	D	0.04	-2.6552	7.4045	0.26983	0.0:0.5752:0.2998:0.125	.	32;32	O75616;O75616-2	ERAL1_HUMAN;.	H	32	.	ENSP00000254928:P32H	P	+	2	0	ERAL1	24206273	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.465000	0.22004	0.765000	0.33221	0.561000	0.74099	CCT		PASS	0.627	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255937.2			12	84	12	84	---	---	---	---
KRT24	192666	broad.mit.edu	37	17	38855808	38855808	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:38855808T>C	ENST00000264651.2	-	6	1305	c.1249A>G	c.(1249-1251)Atc>Gtc	p.I417V		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	417	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)	p.I417V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCACCCCAGATCTGGCAGATC	0.567																																					GBM(61;380 1051 14702 23642 31441)	uc002hvd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1249-1251)ATC>GTC		keratin 24							155.0	151.0	152.0					17																	38855808		2203	4300	6503	SO:0001583	missense	192666					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38855808T>C		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1249A>G	17.37:g.38855808T>C	ENSP00000264651:p.Ile417Val						p.I417V	NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN			6	1306	-		Breast(137;0.00526)	417			Rod.|Coil 2.		Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	c.1249A>G	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	T	0.901	-0.722374	0.03182	.	.	ENSG00000167916	ENST00000264651	D	0.88354	-2.37	5.62	0.89	0.19218	Filament (1);	.	.	.	.	T	0.79753	0.4500	L	0.35414	1.06	0.30796	N	0.740428	B	0.06786	0.001	B	0.10450	0.005	T	0.63598	-0.6601	9	0.06757	T	0.87	.	10.6106	0.45419	0.0:0.44:0.0:0.56	.	417	Q2M2I5	K1C24_HUMAN	V	417	ENSP00000264651:I417V	ENSP00000264651:I417V	I	-	1	0	KRT24	36109334	0.038000	0.19896	0.553000	0.28255	0.712000	0.41017	-0.488000	0.06497	-0.136000	0.11475	-0.462000	0.05337	ATC		PASS	0.567	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016		12	198	12	198	---	---	---	---
KRT31	3881	broad.mit.edu	37	17	39553742	39553742	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:39553742G>C	ENST00000251645.2	-	1	102	c.50C>G	c.(49-51)tCc>tGc	p.S17C		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	17	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)	p.S17C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGGCCGGGAGGAGCAGCTGGT	0.652																																						uc002hwn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(49-51)TCC>TGC		keratin 31							21.0	25.0	24.0					17																	39553742		2202	4291	6493	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39553742G>C	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.50C>G	17.37:g.39553742G>C	ENSP00000251645:p.Ser17Cys					KRT31_uc010cxn.2_Missense_Mutation_p.S17C	p.S17C	NM_002277	NP_002268	Q15323	K1H1_HUMAN			1	103	-		Breast(137;0.000496)	17			Head.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.50C>G	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	g	14.29	2.490087	0.44249	.	.	ENSG00000094796	ENST00000251645	D	0.82167	-1.58	5.82	4.84	0.62591	.	0.194479	0.37304	N	0.002144	T	0.80732	0.4679	L	0.56769	1.78	0.33666	D	0.610348	P	0.38642	0.641	B	0.40101	0.319	D	0.84977	0.0886	10	0.37606	T	0.19	.	12.323	0.54995	0.0794:0.0:0.9206:0.0	.	17	Q15323	K1H1_HUMAN	C	17	ENSP00000251645:S17C	ENSP00000251645:S17C	S	-	2	0	KRT31	36807268	.	.	0.998000	0.56505	0.905000	0.53344	.	.	1.463000	0.47967	0.655000	0.94253	TCC		PASS	0.652	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	NM_002277		6	51	6	51	---	---	---	---
KRT14	3861	broad.mit.edu	37	17	39739351	39739351	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:39739351C>G	ENST00000167586.6	-	7	1402	c.1316G>C	c.(1315-1317)aGa>aCa	p.R439T		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	439	Interaction with Type I keratins and keratin filaments.|Tail.				aging (GO:0007568)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|hair cycle (GO:0042633)|hemidesmosome assembly (GO:0031581)|intermediate filament bundle assembly (GO:0045110)|response to ionizing radiation (GO:0010212)|response to zinc ion (GO:0010043)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	keratin filament binding (GO:1990254)|structural constituent of cytoskeleton (GO:0005200)	p.R439T(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CTTACCATCTCTGGATGACTG	0.577																																						uc002hxf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1315-1317)AGA>ACA		keratin 14							69.0	76.0	74.0					17																	39739351		2203	4300	6503	SO:0001583	missense	3861				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr17:39739351C>G	BC002690	CCDS11400.1	17q21.2	2013-06-20	2008-09-19		ENSG00000186847	ENSG00000186847		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6416	protein-coding gene	gene with protein product	"""epidermolysis bullosa simplex, Dowling-Meara, Koebner"""	148066	"""keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)"""	EBS3, EBS4		1717157, 16831889	Standard	NM_000526		Approved		uc002hxf.2	P02533	OTTHUMG00000133426	ENST00000167586.6:c.1316G>C	17.37:g.39739351C>G	ENSP00000167586:p.Arg439Thr					JUP_uc010wfs.1_Intron|KRT14_uc010cxp.1_Intron	p.R439T	NM_000526	NP_000517	P02533	K1C14_HUMAN			7	1377	-		Breast(137;0.000307)	439			Tail.|Interaction with Type I keratins and keratin filaments.		Q14715|Q53XY3|Q9BUE3|Q9UBN2|Q9UBN3|Q9UCY4	Missense_Mutation	SNP	ENST00000167586.6	37	c.1316G>C	CCDS11400.1	.	.	.	.	.	.	.	.	.	.	C	9.711	1.157174	0.21454	.	.	ENSG00000186847	ENST00000167586	D	0.87491	-2.26	5.61	4.63	0.57726	.	0.318213	0.26156	N	0.026008	T	0.82259	0.4998	L	0.55481	1.735	0.29147	N	0.878651	B	0.24882	0.113	B	0.21708	0.036	T	0.71603	-0.4543	10	0.24483	T	0.36	.	10.9836	0.47510	0.0:0.9099:0.0:0.09	.	439	P02533	K1C14_HUMAN	T	439	ENSP00000167586:R439T	ENSP00000167586:R439T	R	-	2	0	KRT14	36992877	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	2.431000	0.44775	2.808000	0.96608	0.655000	0.94253	AGA		PASS	0.577	KRT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257289.1	NM_000526		8	140	8	140	---	---	---	---
PTGES3L	100885848	broad.mit.edu	37	17	41122314	41122314	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:41122314C>T	ENST00000453594.1	-	5	799	c.454G>A	c.(454-456)Gat>Aat	p.D152N	PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.D94N|PTGES3L_ENST00000409446.3_Missense_Mutation_p.D147N|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.D124N|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.D185N|PTGES3L-AARSD1_ENST00000421990.2_Missense_Mutation_p.D185N	NM_001142653.1|NM_001261430.1	NP_001136125.1|NP_001248359.1	E9PB15	PTG3L_HUMAN	prostaglandin E synthase 3 (cytosolic)-like	152	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.							p.D124N(1)									ACATCCAAATCATCCATGGCA	0.453																																						uc002icf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)GAT>AAT		alanyl-tRNA synthetase domain containing 1							286.0	290.0	289.0					17																	41122314		2203	4300	6503	SO:0001583	missense	80755				alanyl-tRNA aminoacylation	cytoplasm	alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding	g.chr17:41122314C>T		CCDS45692.1	17q21.31	2012-10-05				ENSG00000267060			43943	protein-coding gene	gene with protein product							Standard	NM_001142653		Approved			E9PB15	OTTHUMG00000180906	ENST00000453594.1:c.454G>A	17.37:g.41122314C>T	ENSP00000394415:p.Asp152Asn					AARSD1_uc002icd.2_Missense_Mutation_p.D124N|AARSD1_uc002ice.2_Missense_Mutation_p.D94N|AARSD1_uc010whg.1_Missense_Mutation_p.D185N|AARSD1_uc002icg.2_RNA|AARSD1_uc002ich.2_Missense_Mutation_p.D147N|AARSD1_uc010whh.1_Missense_Mutation_p.D152N	p.D185N	NM_025267	NP_079543	Q9BTE6	AASD1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	7	771	-		Breast(137;0.00499)	Error:Variant_position_missing_in_Q9BTE6_after_alignment						Missense_Mutation	SNP	ENST00000453594.1	37	c.553G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.5|25.5	4.641241|4.641241	0.87859|0.87859	.|.	.|.	ENSG00000108825|ENSG00000108825	ENST00000360221;ENST00000409399;ENST00000421990;ENST00000409103;ENST00000454303;ENST00000453594;ENST00000409446|ENST00000424284	T;T;T;T|.	0.71934|.	-0.61;-0.61;-0.61;-0.61|.	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	0.154247|.	0.45126|.	D|.	0.000395|.	T|T	0.67618|0.67618	0.2912|0.2912	L|L	0.42744|0.42744	1.35|1.35	0.35060|.	D|.	0.761454|.	D;D;B;D;D|.	0.76494|.	0.999;0.999;0.071;0.998;0.977|.	D;D;B;D;P|.	0.69654|.	0.965;0.964;0.064;0.911;0.862|.	T|T	0.63778|0.63778	-0.6560|-0.6560	9|4	0.19590|.	T|.	0.45|.	-25.4221|-25.4221	18.835|18.835	0.92159|0.92159	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	152;147;185;94;142|.	E9PB15;B9A003;B4DI73;C9J5N1;B3KSP9|.	.;.;.;.;.|.	N|I	124;185;185;94;124;152;147|113	ENSP00000353355:D124N;ENSP00000386621:D185N;ENSP00000409924:D185N;ENSP00000386254:D94N|.	ENSP00000353355:D124N|.	D|M	-|-	1|3	0|0	AARSD1|AARSD1	38375840|38375840	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.886000|0.886000	0.51366|0.51366	5.206000|5.206000	0.65192|0.65192	2.674000|2.674000	0.91012|0.91012	0.655000|0.655000	0.94253|0.94253	GAT|ATG		PASS	0.453	PTGES3L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_001142653		45	432	45	432	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47688717	47688717	+	Nonsense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:47688717C>A	ENST00000393328.2	-	7	948	c.583G>T	c.(583-585)Gag>Tag	p.E195*	SPOP_ENST00000503676.1_Nonsense_Mutation_p.E195*|SPOP_ENST00000393331.3_Nonsense_Mutation_p.E195*|SPOP_ENST00000504102.1_Nonsense_Mutation_p.E195*|SPOP_ENST00000347630.2_Nonsense_Mutation_p.E195*	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	195	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.|Important for homodimerization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.E195*(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						CGGGAATTCTCCCACAGTCCT	0.483										Prostate(2;0.17)																												uc010dbk.2																			1	Substitution - Nonsense(1)		lung(1)	prostate(2)|ovary(2)|lung(2)	6						c.(583-585)GAG>TAG		speckle-type POZ protein							137.0	140.0	139.0					17																	47688717		2203	4300	6503	SO:0001587	stop_gained	8405				mRNA processing	nucleus	protein binding	g.chr17:47688717C>A	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.583G>T	17.37:g.47688717C>A	ENSP00000377001:p.Glu195*	Prostate(2;0.17)				SPOP_uc002ipb.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipc.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipd.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipe.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipf.2_Nonsense_Mutation_p.E195*|SPOP_uc002ipg.2_Nonsense_Mutation_p.E195*	p.E195*	NM_003563	NP_003554	O43791	SPOP_HUMAN			7	1215	-			195			BTB.		B2R6S3|D3DTW7|Q53HJ1	Nonsense_Mutation	SNP	ENST00000393328.2	37	c.583G>T	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	C	41	8.657474	0.98903	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581	.	.	.	5.29	5.29	0.74685	.	0.118844	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-22.4864	18.7267	0.91716	0.0:1.0:0.0:0.0	.	.	.	.	X	195;195;195;195;79;195;148;195;195	.	ENSP00000240327:E195X	E	-	1	0	SPOP	45043716	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.603000	0.82811	2.762000	0.94881	0.467000	0.42956	GAG		PASS	0.483	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		48	221	48	221	---	---	---	---
VMP1	81671	broad.mit.edu	37	17	57842496	57842496	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:57842496G>C	ENST00000262291.4	+	6	889	c.579G>C	c.(577-579)atG>atC	p.M193I	VMP1_ENST00000536180.1_Missense_Mutation_p.M96I|VMP1_ENST00000537567.1_Missense_Mutation_p.M59I|VMP1_ENST00000539763.1_Start_Codon_SNP_p.M1I|VMP1_ENST00000545362.1_Intron	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	193					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)		p.M193I(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						AAGCCTGCATGTGGGTAAGAT	0.373																																						uc002ixu.3																			1	Substitution - Missense(1)		lung(1)		0						c.(577-579)ATG>ATC		transmembrane protein 49							118.0	109.0	112.0					17																	57842496		2203	4300	6503	SO:0001583	missense	81671				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane		g.chr17:57842496G>C		CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.579G>C	17.37:g.57842496G>C	ENSP00000262291:p.Met193Ile					TMEM49_uc010wog.1_Missense_Mutation_p.M1I|TMEM49_uc010woh.1_Intron|TMEM49_uc010woi.1_Missense_Mutation_p.M96I|TMEM49_uc010woj.1_Missense_Mutation_p.M59I	p.M193I	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)		6	852	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		193			Extracellular (Potential).		B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	ENST00000262291.4	37	c.579G>C	CCDS11619.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453294	0.96223	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180	T;T;T	0.41400	1.0;1.0;1.0	6.06	6.06	0.98353	.	0.036156	0.85682	D	0.000000	T	0.55146	0.1902	L	0.60067	1.865	0.80722	D	1	P;D;P	0.56521	0.881;0.976;0.889	P;P;P	0.52189	0.511;0.6;0.692	T	0.49360	-0.8948	10	0.45353	T	0.12	-17.0362	20.6397	0.99537	0.0:0.0:1.0:0.0	.	59;96;193	B4DED7;B4DGZ7;Q96GC9	.;.;VMP1_HUMAN	I	193;59;1;96	ENSP00000262291:M193I;ENSP00000445130:M59I;ENSP00000444969:M96I	ENSP00000262291:M193I	M	+	3	0	VMP1	55197278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.880000	0.98712	0.650000	0.86243	ATG		PASS	0.373	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448793.1	NM_030938		24	52	24	52	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62265629	62265629	+	Missense_Mutation	SNP	C	C	T	rs149542859		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:62265629C>T	ENST00000583097.1	-	5	2495	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	TEX2_ENST00000584379.1_Missense_Mutation_p.D775N|TEX2_ENST00000258991.3_Missense_Mutation_p.D782N			Q8IWB9	TEX2_HUMAN	testis expressed 2	775					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.D782N(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ACGCTGTAGTCGAGAAGCATC	0.622																																						uc002jec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2323-2325)GAC>AAC		testis expressed sequence 2		C	ASN/ASP	0,4406		0,0,2203	98.0	80.0	86.0		2344	4.7	1.0	17	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	TEX2	NM_018469.3	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	782/1135	62265629	1,13005	2203	4300	6503	SO:0001583	missense	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62265629C>T	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.2323G>A	17.37:g.62265629C>T	ENSP00000462665:p.Asp775Asn					TEX2_uc002jed.2_Missense_Mutation_p.D782N|TEX2_uc002jee.2_Missense_Mutation_p.D775N	p.D775N	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	5	2496	-			775					Q6AHZ5|Q8N3L0|Q9C0C5	Missense_Mutation	SNP	ENST00000583097.1	37	c.2323G>A		.	.	.	.	.	.	.	.	.	.	C	15.08	2.726531	0.48833	0.0	1.16E-4	ENSG00000136478	ENST00000258991	T	0.54479	0.57	5.76	4.73	0.59995	.	0.138197	0.64402	D	0.000006	T	0.71273	0.3320	M	0.78049	2.395	0.51482	D	0.999926	D;P	0.71674	0.998;0.876	P;B	0.60541	0.876;0.352	T	0.75614	-0.3257	10	0.72032	D	0.01	-13.7592	18.427	0.90612	0.0:0.8723:0.1277:0.0	.	782;775	Q8IWB9-2;Q8IWB9	.;TEX2_HUMAN	N	782	ENSP00000258991:D782N	ENSP00000258991:D782N	D	-	1	0	TEX2	59619361	1.000000	0.71417	0.999000	0.59377	0.876000	0.50452	5.790000	0.69038	2.728000	0.93425	0.462000	0.41574	GAC		PASS	0.622	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		4	102	4	102	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65156379	65156379	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:65156379G>C	ENST00000358691.5	-	17	2341	c.2175C>G	c.(2173-2175)ctC>ctG	p.L725L	HELZ_ENST00000580168.1_Silent_p.L726L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	725						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L725L(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AAAAATACCTGAGAGGTCTTG	0.338																																						uc010wqk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(2176-2178)CTC>CTG		helicase with zinc finger domain							65.0	58.0	60.0					17																	65156379		1804	4071	5875	SO:0001819	synonymous_variant	9931							g.chr17:65156379G>C	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2175C>G	17.37:g.65156379G>C						HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Silent_p.L725L	p.L726L	NM_014877	NP_055692					17	2365	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Silent	SNP	ENST00000358691.5	37	c.2178C>G	CCDS42374.1																																																																																				PASS	0.338	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		4	54	4	54	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65184632	65184632	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:65184632G>A	ENST00000358691.5	-	12	1131	c.965C>T	c.(964-966)tCa>tTa	p.S322L	HELZ_ENST00000580662.1_5'Flank|HELZ_ENST00000580168.1_Missense_Mutation_p.S322L	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	322						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S322L(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GACTTCTTGTGATACCTGGGT	0.408																																						uc010wqk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(964-966)TCA>TTA		helicase with zinc finger domain							223.0	214.0	216.0					17																	65184632		1943	4123	6066	SO:0001583	missense	9931							g.chr17:65184632G>A	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.965C>T	17.37:g.65184632G>A	ENSP00000351524:p.Ser322Leu					HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.S322L	p.S322L	NM_014877	NP_055692					12	1152	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Missense_Mutation	SNP	ENST00000358691.5	37	c.965C>T	CCDS42374.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.346072	0.41599	.	.	ENSG00000198265	ENST00000358691;ENST00000417253	D;T	0.83250	-1.7;1.46	5.52	5.52	0.82312	.	0.159505	0.47852	D	0.000202	T	0.74680	0.3748	N	0.21448	0.665	0.53688	D	0.999979	B;B	0.26547	0.04;0.152	B;B	0.18263	0.021;0.013	T	0.69647	-0.5089	10	0.34782	T	0.22	-14.2026	19.4346	0.94786	0.0:0.0:1.0:0.0	.	322;322	B7ZLW2;P42694	.;HELZ_HUMAN	L	322	ENSP00000351524:S322L;ENSP00000411144:S322L	ENSP00000351524:S322L	S	-	2	0	HELZ	62615094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.482000	0.60257	2.605000	0.88082	0.655000	0.94253	TCA		PASS	0.408	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		11	306	11	306	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73489113	73489113	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:73489113C>G	ENST00000314256.7	+	16	2410	c.2016C>G	c.(2014-2016)ctC>ctG	p.L672L	KIAA0195_ENST00000579208.1_Silent_p.L323L|KIAA0195_ENST00000375248.5_Silent_p.L682L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	672						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L672L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGGGCGGCTCTCCTGTGTCA	0.607																																						uc002jnz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2014-2016)CTC>CTG		hypothetical protein LOC9772							56.0	53.0	54.0					17																	73489113		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73489113C>G		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2016C>G	17.37:g.73489113C>G						KIAA0195_uc010wsa.1_Silent_p.L682L|KIAA0195_uc010wsb.1_Silent_p.L312L|KIAA0195_uc002job.3_5'Flank	p.L672L	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		16	2291	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		672					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.2016C>G	CCDS32732.1																																																																																				PASS	0.607	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		17	59	17	59	---	---	---	---
ENGASE	64772	broad.mit.edu	37	17	77075610	77075610	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr17:77075610C>G	ENST00000579016.1	+	4	456	c.456C>G	c.(454-456)ttC>ttG	p.F152L	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	152				F -> L (in Ref. 2; BAB15158). {ECO:0000305}.		cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)	p.F152L(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						CCTATGCTTTCTACCACTGGC	0.567																																						uc002jwv.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(454-456)TTC>TTG		endo-beta-N-acetylglucosaminidase							147.0	164.0	158.0					17																	77075610		2054	4201	6255	SO:0001583	missense	64772					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity	g.chr17:77075610C>G	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.456C>G	17.37:g.77075610C>G	ENSP00000462333:p.Phe152Leu					ENGASE_uc002jwu.1_Missense_Mutation_p.F152L|ENGASE_uc010wtz.1_Intron|ENGASE_uc002jww.2_5'Flank	p.F152L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN			4	464	+			152	F -> L (in Ref. 2; BAB15158).				Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	37	c.456C>G	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844069	0.71488	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	5.22	3.24	0.37175	Glycoside hydrolase, family 85 (1);	0.045486	0.85682	D	0.000000	T	0.60261	0.2255	L	0.43598	1.365	0.80722	D	1	D;B	0.54397	0.966;0.074	P;B	0.60117	0.869;0.219	T	0.53394	-0.8445	9	0.20519	T	0.43	-3.0504	9.9234	0.41478	0.0:0.8418:0.0:0.1581	.	152;152	Q8NFI3;Q8NFI3-3	ENASE_HUMAN;.	L	152	.	ENSP00000308158:F152L	F	+	3	2	ENGASE	74587205	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	1.343000	0.33930	0.702000	0.31825	0.655000	0.94253	TTC		PASS	0.567	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759		18	211	18	211	---	---	---	---
CETN1	1068	broad.mit.edu	37	18	580595	580595	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr18:580595G>A	ENST00000327228.3	+	1	229	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	63	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.E63K(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GCTGGGCTTCGAACCCAGGAA	0.552																																						uc002kko.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(187-189)GAA>AAA		centrin 1							77.0	59.0	65.0					18																	580595		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.chr18:580595G>A	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.187G>A	18.37:g.580595G>A	ENSP00000319052:p.Glu63Lys						p.E63K	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	229	+			63			EF-hand 1.		B2R536	Missense_Mutation	SNP	ENST00000327228.3	37	c.187G>A	CCDS11820.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.301757	0.81136	.	.	ENSG00000177143	ENST00000327228	T	0.37058	1.22	5.2	5.2	0.72013	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.46580	0.1400	N	0.21617	0.685	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.46176	-0.9210	10	0.72032	D	0.01	.	16.6478	0.85181	0.0:0.0:1.0:0.0	.	63	Q12798	CETN1_HUMAN	K	63	ENSP00000319052:E63K	ENSP00000319052:E63K	E	+	1	0	CETN1	570595	1.000000	0.71417	0.887000	0.34795	0.129000	0.20672	4.687000	0.61708	2.882000	0.98803	0.655000	0.94253	GAA		PASS	0.552	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		7	59	7	59	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6975960	6975960	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr18:6975960G>A	ENST00000389658.3	-	45	6558	c.6465C>T	c.(6463-6465)ctC>ctT	p.L2155L	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2155	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.L2155L(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CGAGGTAGAAGAGAAGATTAT	0.418																																						uc002knm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6463-6465)CTC>CTT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						159.0	159.0	159.0					18																	6975960		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6975960G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6465C>T	18.37:g.6975960G>A						LAMA1_uc010wzj.1_Silent_p.L1631L	p.L2155L	NM_005559	NP_005550	P25391	LAMA1_HUMAN			45	6559	-		Colorectal(10;0.172)	2155			Laminin G-like 1.			Silent	SNP	ENST00000389658.3	37	c.6465C>T	CCDS32787.1																																																																																				PASS	0.418	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		4	139	4	139	---	---	---	---
MOCOS	55034	broad.mit.edu	37	18	33775227	33775227	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr18:33775227C>G	ENST00000261326.5	+	2	171	c.150C>G	c.(148-150)gtC>gtG	p.V50V		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase									p.V50V(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CAGGAACTGTCTATCTTGACC	0.398																																						uc002kzq.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(148-150)GTC>GTG		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)						143.0	146.0	145.0					18																	33775227		2203	4300	6503	SO:0001819	synonymous_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33775227C>G	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.150C>G	18.37:g.33775227C>G							p.V50V	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN			2	173	+			50						Silent	SNP	ENST00000261326.5	37	c.150C>G	CCDS11919.1																																																																																				PASS	0.398	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1			3	160	3	160	---	---	---	---
TCEB3B	51224	broad.mit.edu	37	18	44560278	44560278	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr18:44560278G>A	ENST00000332567.4	-	1	1710	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	453					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T453M(1)		breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCTGGGCACCGTTTTCGGCCC	0.602																																						uc002lcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|pancreas(1)	4						c.(1357-1359)ACG>ATG		elongin A2							50.0	58.0	55.0					18																	44560278		2203	4300	6503	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44560278G>A	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1358C>T	18.37:g.44560278G>A	ENSP00000331302:p.Thr453Met					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.T453M	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	1711	-			453					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.1358C>T	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475532	0.26511	.	.	ENSG00000206181	ENST00000332567	T	0.06933	3.24	1.57	-1.22	0.09494	.	0.752409	0.11047	U	0.605499	T	0.10380	0.0254	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	P	0.59056	0.851	T	0.26326	-1.0106	10	0.52906	T	0.07	-0.735	5.8071	0.18446	0.0:0.0:0.5174:0.4826	.	453	Q8IYF1	ELOA2_HUMAN	M	453	ENSP00000331302:T453M	ENSP00000331302:T453M	T	-	2	0	TCEB3B	42814276	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	0.026000	0.13599	-0.319000	0.08652	-0.426000	0.05927	ACG		PASS	0.602	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		16	117	16	117	---	---	---	---
ACAA2	10449	broad.mit.edu	37	18	47323859	47323859	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr18:47323859G>C	ENST00000285093.10	-	3	764	c.289C>G	c.(289-291)Cag>Gag	p.Q97E	ACAA2_ENST00000589432.1_Missense_Mutation_p.Q42E|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.Q94E	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	97					cellular response to hypoxia (GO:0071456)|cholesterol biosynthetic process (GO:0006695)|fatty acid metabolic process (GO:0006631)|negative regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902109)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	acetyl-CoA C-acyltransferase activity (GO:0003988)|poly(A) RNA binding (GO:0044822)	p.Q97E(1)		large_intestine(2)|lung(7)|ovary(1)	10						ACAATGGACTGAAAACCAGAA	0.388																																						uc002ldw.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)CAG>GAG		acetyl-coenzyme A acyltransferase 2							88.0	95.0	92.0					18																	47323859		2203	4300	6503	SO:0001583	missense	10449				anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding	g.chr18:47323859G>C	D16294	CCDS11939.1	18q21	2010-04-30	2010-04-30		ENSG00000167315	ENSG00000167315	2.3.1.16		83	protein-coding gene	gene with protein product	"""mitochondrial 3-oxoacyl-Coenzyme A thiolase"""	604770	"""acetyl-Coenzyme A acyltransferase 2"""			8241273	Standard	NM_006111		Approved	DSAEC	uc002ldw.4	P42765	OTTHUMG00000132667	ENST00000285093.10:c.289C>G	18.37:g.47323859G>C	ENSP00000285093:p.Gln97Glu					ACAA2_uc002ldx.3_Missense_Mutation_p.Q94E	p.Q97E	NM_006111	NP_006102	P42765	THIM_HUMAN			3	686	-			97					Q9BUT6	Missense_Mutation	SNP	ENST00000285093.10	37	c.289C>G	CCDS11939.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.094038	0.56075	.	.	ENSG00000167315	ENST00000285093	D	0.90324	-2.65	5.67	5.67	0.87782	Thiolase-like, subgroup (1);Thiolase, N-terminal (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.89455	0.6720	L	0.42487	1.325	0.80722	D	1	B;P	0.35107	0.178;0.484	B;B	0.38225	0.129;0.268	D	0.89066	0.3466	10	0.66056	D	0.02	-16.7375	19.7689	0.96353	0.0:0.0:1.0:0.0	.	97;97	B2RB23;P42765	.;THIM_HUMAN	E	97	ENSP00000285093:Q97E	ENSP00000285093:Q97E	Q	-	1	0	ACAA2	45577857	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.405000	0.97313	2.656000	0.90262	0.650000	0.86243	CAG		PASS	0.388	ACAA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255921.2	NM_006111		6	147	6	147	---	---	---	---
SERPINB3	6317	broad.mit.edu	37	18	61325788	61325788	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr18:61325788C>G	ENST00000283752.5	-	5	571	c.428G>C	c.(427-429)aGt>aCt	p.S143T	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.S143T	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	143					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.S143T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTTCTTTCGACTTTCTTCTGG	0.398																																						uc002ljg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(427-429)AGT>ACT		SubName: Full=Squamous cell carcinoma antigen 2;							109.0	99.0	102.0					18																	61325788		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61325788C>G	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.428G>C	18.37:g.61325788C>G	ENSP00000283752:p.Ser143Thr					SERPINB3_uc002lji.2_Missense_Mutation_p.S143T|SERPINB3_uc010dqa.2_Missense_Mutation_p.S143T|SERPINB3_uc010dqb.2_3'UTR	p.S143T			P48594	SPB4_HUMAN			4	454	-			143					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.428G>C	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	C	4.960	0.178240	0.09443	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84873	-1.91;-1.91	2.97	2.07	0.26955	Serpin domain (3);	0.618844	0.13880	N	0.356371	T	0.80082	0.4558	L	0.45352	1.415	0.09310	N	1	B;B;B	0.33694	0.421;0.136;0.136	B;B;B	0.37346	0.247;0.102;0.102	T	0.67114	-0.5752	10	0.30078	T	0.28	.	10.8131	0.46559	0.0:0.4369:0.563:0.0	.	143;143;143	P29508-2;P29508;Q5K684	.;SPB3_HUMAN;.	T	143	ENSP00000283752:S143T;ENSP00000329498:S143T	ENSP00000283752:S143T	S	-	2	0	SERPINB3	59476768	0.000000	0.05858	0.740000	0.30986	0.580000	0.36256	-0.452000	0.06787	0.799000	0.34018	0.455000	0.32223	AGT		PASS	0.398	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		6	80	6	80	---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63491903	63491903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr18:63491903G>T	ENST00000397968.2	+	6	1243	c.817G>T	c.(817-819)Gag>Tag	p.E273*	CDH7_ENST00000323011.3_Nonsense_Mutation_p.E273*|CDH7_ENST00000536984.2_Nonsense_Mutation_p.E273*	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	273	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E273*(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAACGTCCCAGAGTCATTACC	0.383																																						uc002ljz.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|pancreas(1)|skin(1)	4						c.(817-819)GAG>TAG		cadherin 7, type 2 preproprotein							112.0	106.0	108.0					18																	63491903		2203	4300	6503	SO:0001587	stop_gained	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63491903G>T	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.817G>T	18.37:g.63491903G>T	ENSP00000381058:p.Glu273*					CDH7_uc002lka.2_Nonsense_Mutation_p.E273*|CDH7_uc002lkb.2_Nonsense_Mutation_p.E273*	p.E273*	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			6	1142	+		Esophageal squamous(42;0.129)	273			Extracellular (Potential).|Cadherin 3.		Q9H157	Nonsense_Mutation	SNP	ENST00000397968.2	37	c.817G>T	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	40	8.247133	0.98724	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.9028	0.88910	0.0:0.0:1.0:0.0	.	.	.	.	X	273	.	ENSP00000319166:E273X	E	+	1	0	CDH7	61642883	1.000000	0.71417	0.967000	0.41034	0.617000	0.37484	9.256000	0.95535	2.291000	0.77112	0.637000	0.83480	GAG		PASS	0.383	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646		4	87	4	87	---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66504390	66504390	+	Silent	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr18:66504390G>T	ENST00000360242.5	+	2	507	c.390G>T	c.(388-390)gcG>gcT	p.A130A	CCDC102B_ENST00000319445.6_Silent_p.A130A|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000358653.5_Silent_p.A130A|CCDC102B_ENST00000584156.1_Silent_p.A130A	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	130								p.A130A(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TAGAGATGGCGATGAAAGAAT	0.448																																						uc002lkk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(388-390)GCG>GCT		coiled-coil domain containing 102B							99.0	97.0	98.0					18																	66504390		1922	4128	6050	SO:0001819	synonymous_variant	79839							g.chr18:66504390G>T	AK027247	CCDS11996.2	18q22.1	2007-11-14	2006-04-10	2006-04-10	ENSG00000150636	ENSG00000150636			26295	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 14"", ""aminoacylase 1-like"""	C18orf14, ACY1L		14702039	Standard	NM_001093729		Approved	FLJ23594, HsT1731, AN	uc002lkk.2	Q68D86	OTTHUMG00000132808	ENST00000360242.5:c.390G>T	18.37:g.66504390G>T						CCDC102B_uc002lki.2_Silent_p.A130A|CCDC102B_uc002lkj.1_Silent_p.A130A	p.A130A	NM_001093729	NP_001087198	Q68D86	C102B_HUMAN			4	613	+		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)	130			Potential.		Q7Z467|Q8NDK7|Q9H5C1	Silent	SNP	ENST00000360242.5	37	c.390G>T	CCDS11996.2																																																																																				PASS	0.448	CCDC102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256225.2	NM_024781		16	76	16	76	---	---	---	---
APC2	10297	broad.mit.edu	37	19	1453249	1453249	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:1453249G>A	ENST00000535453.1	+	2	1858	c.145G>A	c.(145-147)Gtc>Atc	p.V49I	APC2_ENST00000238483.4_Missense_Mutation_p.V49I|APC2_ENST00000233607.2_Missense_Mutation_p.V49I			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0	Lipid binding.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.V49I(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCAGGAGGTCCTGAAGCA	0.682																																						uc002lsr.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|pancreas(1)	4						c.(145-147)GTC>ATC		adenomatosis polyposis coli 2							18.0	18.0	18.0					19																	1453249		2153	4230	6383	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1453249G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.145G>A	19.37:g.1453249G>A	ENSP00000442954:p.Val49Ile					APC2_uc002lss.1_5'UTR|APC2_uc002lst.1_Missense_Mutation_p.V49I|APC2_uc002lsu.1_Missense_Mutation_p.V49I	p.V49I	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	353	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	49			Potential.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.145G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280920	0.80692	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.15718	2.4;2.4;2.4	4.86	4.86	0.63082	.	0.000000	0.64402	D	0.000003	T	0.35068	0.0919	L	0.52573	1.65	0.25759	N	0.984962	D;D	0.71674	0.998;0.997	D;D	0.78314	0.991;0.981	T	0.07520	-1.0768	10	0.87932	D	0	-50.0685	13.4794	0.61326	0.0:0.0:1.0:0.0	.	49;49	O95996-3;O95996	.;APC2_HUMAN	I	49	ENSP00000233607:V49I;ENSP00000238483:V49I;ENSP00000442954:V49I	ENSP00000233607:V49I	V	+	1	0	APC2	1404249	1.000000	0.71417	0.998000	0.56505	0.491000	0.33493	6.652000	0.74377	2.255000	0.74692	0.462000	0.41574	GTC		PASS	0.682	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883		3	6	3	6	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9072935	9072935	+	Silent	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:9072935G>T	ENST00000397910.4	-	3	14714	c.14511C>A	c.(14509-14511)acC>acA	p.T4837T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4839	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.T4837T(2)|p.T470T(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						CTGAACCGGTGGTCCCCACAT	0.463																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(14509-14511)ACC>ACA		mucin 16							171.0	160.0	164.0					19																	9072935		2073	4198	6271	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9072935G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.14511C>A	19.37:g.9072935G>T							p.T4837T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	14715	-			4839			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.14511C>A	CCDS54212.1																																																																																				PASS	0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		16	100	16	100	---	---	---	---
ZNF266	10781	broad.mit.edu	37	19	9525174	9525174	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:9525174C>G	ENST00000592904.1	-	5	2503	c.427G>C	c.(427-429)Gat>Cat	p.D143H	ZNF266_ENST00000361151.1_Missense_Mutation_p.D143H|ZNF266_ENST00000588933.1_Missense_Mutation_p.D143H|ZNF266_ENST00000588221.1_Missense_Mutation_p.D143H|ZNF266_ENST00000592292.1_Missense_Mutation_p.D143H|ZNF266_ENST00000361451.2_Missense_Mutation_p.D143H|ZNF266_ENST00000590306.1_Missense_Mutation_p.D143H			Q14584	ZN266_HUMAN	zinc finger protein 266	143					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.D143H(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CAAACAACATCTGGGTTCAGG	0.438																																						uc002mll.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(427-429)GAT>CAT		zinc finger protein 266							148.0	135.0	139.0					19																	9525174		2203	4300	6503	SO:0001583	missense	10781				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9525174C>G	X78924	CCDS12213.1	19p13.2	2013-01-08				ENSG00000174652		"""Zinc fingers, C2H2-type"""	13059	protein-coding gene	gene with protein product		604751				7865130	Standard	NM_006631		Approved	HZF1	uc002mlo.4	Q14584		ENST00000592904.1:c.427G>C	19.37:g.9525174C>G	ENSP00000466714:p.Asp143His					ZNF266_uc002mlm.2_Missense_Mutation_p.D143H|ZNF266_uc002mln.2_Missense_Mutation_p.D143H|ZNF266_uc002mlo.2_Missense_Mutation_p.D143H|ZNF266_uc010dwp.2_Missense_Mutation_p.D143H|ZNF266_uc010dwq.2_Missense_Mutation_p.D143H	p.D143H	NM_198058	NP_932175	Q14584	ZN266_HUMAN			4	693	-			143					A0AV90|A4FU85|Q6IQ07|Q6U8A5|Q8IVG3|Q8WVX1|Q96SX9	Missense_Mutation	SNP	ENST00000592904.1	37	c.427G>C	CCDS12213.1	.	.	.	.	.	.	.	.	.	.	C	2.351	-0.348856	0.05208	.	.	ENSG00000174652	ENST00000361451;ENST00000361151	T;T	0.27557	1.66;1.66	2.5	-4.99	0.03010	.	.	.	.	.	T	0.09818	0.0241	N	0.05534	-0.03	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.20207	-1.0282	9	0.08179	T	0.78	.	2.3514	0.04284	0.1141:0.3726:0.2299:0.2834	.	143	Q14584	ZN266_HUMAN	H	143	ENSP00000354680:D143H;ENSP00000355047:D143H	ENSP00000355047:D143H	D	-	1	0	ZNF266	9386174	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.983000	0.00320	-2.901000	0.00312	-1.100000	0.02121	GAT		PASS	0.438	ZNF266-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449033.1			3	128	3	128	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10073506	10073506	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:10073506G>C	ENST00000264828.3	-	65	4925	c.4840C>G	c.(4840-4842)Cga>Gga	p.R1614G		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1614	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.R1614G(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTCTTCCCTCGACGGAATGTG	0.552																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(4840-4842)CGA>GGA		collagen, type V, alpha 3 preproprotein							65.0	57.0	60.0					19																	10073506		2203	4300	6503	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10073506G>C	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.4840C>G	19.37:g.10073506G>C	ENSP00000264828:p.Arg1614Gly						p.R1614G	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		65	4926	-			1614			Fibrillar collagen NC1.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.4840C>G	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271633	0.23221	.	.	ENSG00000080573	ENST00000264828	T	0.73469	-0.75	4.45	2.1	0.27182	Fibrillar collagen, C-terminal (3);	0.171581	0.36101	N	0.002781	T	0.67183	0.2866	N	0.11427	0.14	0.31029	N	0.717654	D	0.64830	0.994	D	0.66084	0.941	T	0.64859	-0.6308	10	0.22706	T	0.39	.	9.5044	0.39037	0.0:0.0:0.4781:0.5219	.	1614	P25940	CO5A3_HUMAN	G	1614	ENSP00000264828:R1614G	ENSP00000264828:R1614G	R	-	1	2	COL5A3	9934506	0.063000	0.20901	0.900000	0.35374	0.832000	0.47134	1.266000	0.33039	1.056000	0.40484	0.205000	0.17691	CGA		PASS	0.552	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		3	30	3	30	---	---	---	---
PLVAP	83483	broad.mit.edu	37	19	17477002	17477002	+	Silent	SNP	G	G	A	rs138246020		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:17477002G>A	ENST00000252590.4	-	2	433	c.372C>T	c.(370-372)gtC>gtT	p.V124V		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	124					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.V124V(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCGTGTAGATGACCTGCCCGG	0.542																																						uc002ngk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(370-372)GTC>GTT		plasmalemma vesicle associated protein							187.0	164.0	172.0					19																	17477002		2203	4300	6503	SO:0001819	synonymous_variant	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17477002G>A	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.372C>T	19.37:g.17477002G>A							p.V124V	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			2	422	-			124			Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Silent	SNP	ENST00000252590.4	37	c.372C>T	CCDS32952.1																																																																																				PASS	0.542	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1	NM_031310		6	210	6	210	---	---	---	---
NDUFA13	51079	broad.mit.edu	37	19	19626179	19626179	+	5'Flank	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:19626179C>G	ENST00000507754.4	+	0	0				TSSK6_ENST00000585580.3_Missense_Mutation_p.E20Q|NDUFA13_ENST00000252576.5_5'Flank|NDUFA13_ENST00000512771.3_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|NDUFA13_ENST00000503283.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.E20Q|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.E20Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TAGCTGCCCTCTCCAATTGTG	0.632																																						uc002nmr.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(58-60)GAG>CAG		testis-specific serine kinase 6							78.0	77.0	77.0					19																	19626179		2203	4300	6503	SO:0001631	upstream_gene_variant	83983				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:19626179C>G	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626179C>G	Exception_encountered					TSSK6_uc002nmq.2_RNA|NDUFA13_uc002nms.2_5'Flank|NDUFA13_uc010xqx.1_5'Flank|NDUFA13_uc010xqy.1_5'Flank	p.E20Q	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN			1	291	-			20			ATP (By similarity).|Protein kinase.		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.58G>C	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	14.15	2.448180	0.43429	.	.	ENSG00000178093	ENST00000360913	T	0.66280	-0.2	5.02	5.02	0.67125	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	0.40222	U	0.001147	T	0.49270	0.1547	N	0.17922	0.545	0.39080	D	0.960881	B	0.26363	0.147	B	0.28553	0.091	T	0.55431	-0.8142	10	0.72032	D	0.01	.	13.8868	0.63712	0.0:1.0:0.0:0.0	.	20	Q9BXA6	TSSK6_HUMAN	Q	20	ENSP00000354168:E20Q	ENSP00000354168:E20Q	E	-	1	0	TSSK6	19487179	0.998000	0.40836	0.994000	0.49952	0.979000	0.70002	3.785000	0.55424	2.353000	0.79882	0.485000	0.47835	GAG		PASS	0.632	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		5	99	5	99	---	---	---	---
ZNF506	440515	broad.mit.edu	37	19	19905854	19905854	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:19905854C>G	ENST00000540806.2	-	4	930	c.842G>C	c.(841-843)gGa>gCa	p.G281A	ZNF506_ENST00000587461.1_Intron|CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.G249A|ZNF506_ENST00000443905.2_Missense_Mutation_p.G281A|CTC-559E9.4_ENST00000590274.1_lincRNA|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	281					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G281A(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TGGTTTCTCTCCAGTATGAAT	0.368																																						uc010eci.2																			1	Substitution - Missense(1)		lung(1)		0						c.(841-843)GGA>GCA		zinc finger protein 506 isoform 1							44.0	49.0	48.0					19																	19905854		2195	4297	6492	SO:0001583	missense	440515				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	g.chr19:19905854C>G	AK095575	CCDS42531.1, CCDS46027.1	19p13.11	2013-01-08				ENSG00000081665		"""Zinc fingers, C2H2-type"", ""-"""	23780	protein-coding gene	gene with protein product							Standard	NM_001099269		Approved	DKFZp761G1812	uc010eci.2	Q5JVG8		ENST00000540806.2:c.842G>C	19.37:g.19905854C>G	ENSP00000440625:p.Gly281Ala					ZNF506_uc002nog.2_Intron|ZNF506_uc002noh.3_Missense_Mutation_p.G249A	p.G281A	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN			4	990	-			281					B3KTH6	Missense_Mutation	SNP	ENST00000540806.2	37	c.842G>C	CCDS42531.1	.	.	.	.	.	.	.	.	.	.	c	16.56	3.156344	0.57259	.	.	ENSG00000081665	ENST00000443905;ENST00000540806;ENST00000450683	T;T;T	0.26373	1.74;1.74;1.74	0.974	0.974	0.19715	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21801	0.0525	L	0.53780	1.695	0.36677	D	0.878845	P;D	0.56287	0.845;0.975	B;B	0.41236	0.351;0.343	T	0.26916	-1.0089	9	0.72032	D	0.01	.	7.3873	0.26891	0.0:1.0:0.0:0.0	.	281;249	Q5JVG8;Q5JVG8-2	ZN506_HUMAN;.	A	281;281;249	ENSP00000393835:G281A;ENSP00000440625:G281A;ENSP00000408892:G249A	ENSP00000393835:G281A	G	-	2	0	ZNF506	19766854	0.328000	0.24687	0.291000	0.24904	0.251000	0.25915	1.789000	0.38724	0.423000	0.26033	0.423000	0.28283	GGA		PASS	0.368	ZNF506-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460794.1	XM_036218		3	51	3	51	---	---	---	---
ZNF91	7644	broad.mit.edu	37	19	23543988	23543988	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:23543988C>A	ENST00000300619.7	-	4	1998	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G566V|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	598					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G598V(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				AGACTTCTCTCCAGTATGAAT	0.363																																						uc002nre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1792-1794)GGA>GTA		zinc finger protein 91							48.0	51.0	50.0					19																	23543988		2162	4273	6435	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543988C>A	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1793G>T	19.37:g.23543988C>A	ENSP00000300619:p.Gly598Val					ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.G566V	p.G598V	NM_003430	NP_003421	Q05481	ZNF91_HUMAN			4	1906	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	598					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.1793G>T	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.721194	0.30503	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.23552	1.9;1.9	1.78	-0.928	0.10448	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.39809	0.1092	M	0.66506	2.035	0.46954	D	0.999262	D;D	0.89917	0.998;1.0	D;D	0.72075	0.972;0.976	T	0.31943	-0.9925	9	0.87932	D	0	.	4.4413	0.11575	0.2168:0.6412:0.0:0.142	.	566;598	Q05481-2;Q05481	.;ZNF91_HUMAN	V	598;566	ENSP00000300619:G598V;ENSP00000380272:G566V	ENSP00000300619:G598V	G	-	2	0	ZNF91	23335828	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	0.680000	0.25306	-0.366000	0.08064	-0.823000	0.03104	GGA		PASS	0.363	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		8	55	8	55	---	---	---	---
TYROBP	7305	broad.mit.edu	37	19	36398144	36398144	+	Missense_Mutation	SNP	G	G	C	rs151172291		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:36398144G>C	ENST00000262629.4	-	4	318	c.252C>G	c.(250-252)atC>atG	p.I84M	TYROBP_ENST00000585901.2_Missense_Mutation_p.I115M|TYROBP_ENST00000589517.1_Missense_Mutation_p.I83M|TYROBP_ENST00000424586.3_Missense_Mutation_p.I72M|TYROBP_ENST00000544690.2_Missense_Mutation_p.I73M	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	84	ITAM.				axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)	p.I84M(1)		NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CGGTCTCAGTGATACGCTGTT	0.537																																						uc002ocm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)ATC>ATG		TYRO protein tyrosine kinase binding protein							133.0	100.0	111.0					19																	36398144		2202	4300	6502	SO:0001583	missense	7305				axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity	g.chr19:36398144G>C	AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"""killer activating receptor associated protein"", ""DNAX-activation protein 12"""	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.252C>G	19.37:g.36398144G>C	ENSP00000262629:p.Ile84Met					TYROBP_uc002ocn.2_Missense_Mutation_p.I83M	p.I84M	NM_003332	NP_003323	O43914	TYOBP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	308	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		84			Cytoplasmic (Potential).		A8K2X0|F5H389|Q6FGA5|Q9UMT3	Missense_Mutation	SNP	ENST00000262629.4	37	c.252C>G	CCDS12482.1	.	.	.	.	.	.	.	.	.	.	G	3.281	-0.147089	0.06627	.	.	ENSG00000011600	ENST00000262629;ENST00000424586;ENST00000544690	D;D	0.86497	-2.13;-2.13	5.48	-11.0	0.00169	.	0.581872	0.16389	N	0.216533	T	0.64907	0.2641	N	0.12746	0.255	0.09310	N	1	B;B	0.17667	0.023;0.013	B;B	0.15484	0.013;0.013	T	0.50659	-0.8802	10	0.31617	T	0.26	-2.0207	5.8518	0.18697	0.389:0.383:0.1597:0.0683	.	83;84	O43914-2;O43914	.;TYOBP_HUMAN	M	84;83;73	ENSP00000262629:I84M;ENSP00000445332:I73M	ENSP00000262629:I84M	I	-	3	3	TYROBP	41089984	0.000000	0.05858	0.000000	0.03702	0.312000	0.27988	-1.866000	0.01647	-3.714000	0.00117	-0.237000	0.12165	ATC		PASS	0.537	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1			4	34	4	34	---	---	---	---
HKR1	284459	broad.mit.edu	37	19	37853479	37853479	+	Missense_Mutation	SNP	T	T	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:37853479T>C	ENST00000324411.4	+	6	1051	c.782T>C	c.(781-783)cTt>cCt	p.L261P	HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000541583.2_Missense_Mutation_p.L200P|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000589392.1_Missense_Mutation_p.L243P|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.L242P	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	261					multicellular organismal development (GO:0007275)|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.L261P(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAACCTCCTTAGCCTCCAG	0.448																																						uc002ogb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(781-783)CTT>CCT		GLI-Kruppel family member HKR1							53.0	54.0	54.0					19																	37853479		2203	4300	6503	SO:0001583	missense	284459				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37853479T>C	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.782T>C	19.37:g.37853479T>C	ENSP00000315505:p.Leu261Pro					HKR1_uc002ofx.2_5'UTR|HKR1_uc002ofy.2_5'UTR|HKR1_uc002oga.2_Missense_Mutation_p.L243P|HKR1_uc010xto.1_Missense_Mutation_p.L243P|HKR1_uc002ogc.2_Missense_Mutation_p.L242P|HKR1_uc010xtp.1_Missense_Mutation_p.L200P|HKR1_uc002ogd.2_Missense_Mutation_p.L200P	p.L261P	NM_181786	NP_861451	P10072	HKR1_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1051	+			261					A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	37	c.782T>C	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	T	2.098	-0.406662	0.04832	.	.	ENSG00000181666	ENST00000414402;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T	0.16196	2.36;2.36;2.36	2.81	1.79	0.24919	.	.	.	.	.	T	0.18964	0.0455	N	0.14661	0.345	0.09310	N	0.999999	D;D;P;B	0.67145	0.979;0.996;0.863;0.003	P;D;B;B	0.69479	0.592;0.964;0.424;0.003	T	0.12319	-1.0552	9	0.39692	T	0.17	-5.5031	5.5357	0.17009	0.0:0.2486:0.0:0.7514	.	200;242;261;243	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	P	200;242;297;261;200	ENSP00000375994:L242P;ENSP00000315505:L261P;ENSP00000438261:L200P	ENSP00000315505:L261P	L	+	2	0	HKR1	42545319	0.000000	0.05858	0.031000	0.17742	0.002000	0.02628	0.415000	0.21181	0.499000	0.27970	0.529000	0.55759	CTT		PASS	0.448	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786		7	74	7	74	---	---	---	---
CD79A	973	broad.mit.edu	37	19	42383185	42383185	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:42383185G>A	ENST00000221972.3	+	2	390	c.205G>A	c.(205-207)Gtc>Atc	p.V69I	CD79A_ENST00000444740.2_Missense_Mutation_p.V69I	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	69	Ig-like C2-type.			V -> I (in Ref. 3; AAA60270). {ECO:0000305}.	B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.V69I(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						CTGGTGGCGCGTCCTCCATGG	0.602			"""O, S"""		DLBCL																																	uc002orv.2				Dom	yes		19	19q13.2	973	O|S	"""CD79a molecule, immunoglobulin-associated alpha"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(205-207)GTC>ATC		CD79A antigen isoform 1 precursor							108.0	87.0	94.0					19																	42383185		2203	4300	6503	SO:0001583	missense	973				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity	g.chr19:42383185G>A	M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.205G>A	19.37:g.42383185G>A	ENSP00000221972:p.Val69Ile					CD79A_uc002oru.2_Missense_Mutation_p.V69I	p.V69I	NM_001783	NP_001774	P11912	CD79A_HUMAN			2	390	+			69	V -> I (in Ref. 3; AAA60270).		Ig-like C2-type.|Extracellular (Potential).		A0N775|Q53FB8	Missense_Mutation	SNP	ENST00000221972.3	37	c.205G>A	CCDS12589.1	.	.	.	.	.	.	.	.	.	.	G	8.582	0.882431	0.17467	.	.	ENSG00000105369	ENST00000221972;ENST00000444740	T	0.66099	-0.19	5.06	-2.82	0.05787	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.905669	0.09372	N	0.811194	T	0.42449	0.1203	L	0.28192	0.835	0.09310	N	1	B;B	0.18610	0.029;0.014	B;B	0.14578	0.011;0.004	T	0.22765	-1.0207	10	0.31617	T	0.26	-13.283	6.7329	0.23393	0.3174:0.0:0.5321:0.1505	.	69;69	P11912;A0N775	CD79A_HUMAN;.	I	69	ENSP00000221972:V69I	ENSP00000221972:V69I	V	+	1	0	CD79A	47075025	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-2.198000	0.01239	-0.441000	0.07201	-0.913000	0.02753	GTC		PASS	0.602	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1			22	91	22	91	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42492696	42492696	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:42492696C>G	ENST00000302102.5	-	2	175	c.25G>C	c.(25-27)Gac>Cac	p.D9H	ATP1A3_ENST00000545399.1_Missense_Mutation_p.D22H|ATP1A3_ENST00000602133.1_5'UTR|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000543770.1_Missense_Mutation_p.D20H	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	9					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.D9H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TTGGGTGAGTCCTTGTCATCT	0.612																																						uc002osg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(25-27)GAC>CAC		Na+/K+ -ATPase alpha 3 subunit							258.0	198.0	218.0					19																	42492696		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42492696C>G		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.25G>C	19.37:g.42492696C>G	ENSP00000302397:p.Asp9His					ATP1A3_uc010xwf.1_Missense_Mutation_p.D20H|ATP1A3_uc010xwg.1_5'UTR|ATP1A3_uc010xwh.1_Missense_Mutation_p.D22H|ATP1A3_uc002osh.2_Missense_Mutation_p.D9H	p.D9H	NM_152296	NP_689509	P13637	AT1A3_HUMAN			2	179	-			9			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.25G>C	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321506	0.41096	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000543770;ENST00000448429	D;D;D;D	0.95377	-3.5;-3.69;-3.45;-3.44	4.61	0.831	0.18860	.	0.946260	0.08773	N	0.895902	D	0.88179	0.6367	N	0.08118	0	0.29615	N	0.84667	B;B;B;B	0.32939	0.391;0.115;0.214;0.07	B;B;B;B	0.34418	0.182;0.124;0.085;0.058	T	0.82236	-0.0557	10	0.62326	D	0.03	.	6.1464	0.20289	0.0:0.5873:0.0:0.4127	.	22;20;9;9	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	H	9;9;22;20;22	ENSP00000302397:D9H;ENSP00000411503:D9H;ENSP00000444688:D22H;ENSP00000437577:D20H	ENSP00000302397:D9H	D	-	1	0	ATP1A3	47184536	0.991000	0.36638	0.998000	0.56505	0.933000	0.57130	0.568000	0.23623	0.029000	0.15352	0.479000	0.44913	GAC		PASS	0.612	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		19	226	19	226	---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49637913	49637913	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:49637913G>C	ENST00000334186.4	+	12	1744	c.1395G>C	c.(1393-1395)gaG>gaC	p.E465D	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E465D	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	465					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.E465D(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGAGCGAGGAGATAGCCAACA	0.602																																						uc002pmr.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1393-1395)GAG>GAC		PTPRF interacting protein alpha 3							139.0	130.0	133.0					19																	49637913		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49637913G>C	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1395G>C	19.37:g.49637913G>C	ENSP00000335614:p.Glu465Asp					PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_Missense_Mutation_p.E389D|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Missense_Mutation_p.E333D	p.E465D	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	12	1727	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	465			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.1395G>C	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964693	0.53507	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.25414	1.8	3.4	2.36	0.29203	.	0.000000	0.42682	U	0.000674	T	0.32496	0.0831	L	0.54323	1.7	0.44417	D	0.99733	P;B;P	0.47545	0.458;0.022;0.897	B;B;P	0.54924	0.129;0.045;0.764	T	0.04664	-1.0935	10	0.54805	T	0.06	-16.3752	5.3213	0.15883	0.3508:0.0:0.6492:0.0	.	389;465;465	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	D	465;389	ENSP00000335614:E465D	ENSP00000335614:E465D	E	+	3	2	PPFIA3	54329725	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	3.024000	0.49674	0.779000	0.33543	0.557000	0.71058	GAG		PASS	0.602	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		4	165	4	165	---	---	---	---
SIGLEC10	89790	broad.mit.edu	37	19	51917069	51917069	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:51917069A>C	ENST00000339313.5	-	10	1834	c.1718T>G	c.(1717-1719)aTt>aGt	p.I573S	SIGLEC10_ENST00000432469.2_Missense_Mutation_p.I395S|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.I388S|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000353836.5_Missense_Mutation_p.I478S|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.I573S|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.I515S|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.I330S|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.I420S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.I430S			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	573					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.I573S(1)|p.I515S(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)		CTTCGGTAGAATCTTCATGCT	0.557																																						uc002pwo.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1717-1719)ATT>AGT		sialic acid binding Ig-like lectin 10 precursor							115.0	101.0	106.0					19																	51917069		2203	4300	6503	SO:0001583	missense	89790				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr19:51917069A>C	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.1718T>G	19.37:g.51917069A>C	ENSP00000345243:p.Ile573Ser					SIGLEC10_uc002pwp.2_Missense_Mutation_p.I515S|SIGLEC10_uc002pwq.2_Missense_Mutation_p.I420S|SIGLEC10_uc002pwr.2_Missense_Mutation_p.I478S|SIGLEC10_uc010ycy.1_Missense_Mutation_p.I388S|SIGLEC10_uc010ycz.1_Missense_Mutation_p.I430S|SIGLEC10_uc010eow.2_Missense_Mutation_p.I290S|SIGLEC10_uc002pws.1_Missense_Mutation_p.I314S	p.I573S	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)	10	2334	-		all_neural(266;0.0199)	573			Cytoplasmic (Potential).		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	ENST00000339313.5	37	c.1718T>G	CCDS12832.1	.	.	.	.	.	.	.	.	.	.	.	12.55	1.970672	0.34754	.	.	ENSG00000142512	ENST00000353836;ENST00000432469;ENST00000442846;ENST00000356298;ENST00000441969;ENST00000525998;ENST00000439889;ENST00000436984;ENST00000339313	T;T;T;T;T;T;T;T;T	0.54071	0.85;2.06;1.52;0.74;1.9;1.71;0.59;1.83;0.74	5.24	-2.88	0.05682	.	1.081570	0.07366	U	0.884828	T	0.40322	0.1112	L	0.43152	1.355	0.09310	N	1	B;P;B;P;P;P;B;B	0.50156	0.295;0.846;0.434;0.932;0.57;0.57;0.442;0.029	B;B;B;B;B;B;B;B	0.37650	0.13;0.218;0.13;0.214;0.255;0.175;0.219;0.017	T	0.46884	-0.9159	10	0.87932	D	0	.	9.8307	0.40939	0.634:0.0:0.366:0.0	.	430;388;478;330;478;420;515;573	C9JM10;E9PL79;B7ZL04;C9JJ33;Q96LC7-2;Q96LC7-6;Q96LC7-3;Q96LC7	.;.;.;.;.;.;.;SIG10_HUMAN	S	478;395;330;573;420;388;515;430;573	ENSP00000342389:I478S;ENSP00000396742:I395S;ENSP00000395475:I330S;ENSP00000348646:I573S;ENSP00000408387:I420S;ENSP00000431444:I388S;ENSP00000389132:I515S;ENSP00000414324:I430S;ENSP00000345243:I573S	ENSP00000345243:I573S	I	-	2	0	SIGLEC10	56608881	0.001000	0.12720	0.009000	0.14445	0.146000	0.21551	-0.303000	0.08210	-0.414000	0.07495	0.459000	0.35465	ATT		PASS	0.557	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384620.2	NM_033130		9	70	9	70	---	---	---	---
ZNF616	90317	broad.mit.edu	37	19	52618120	52618120	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:52618120C>G	ENST00000600228.1	-	4	2558	c.2297G>C	c.(2296-2298)aGa>aCa	p.R766T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	766					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.R766T(1)		breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TCCAGTATGTCTTATTCGATG	0.378																																						uc002pym.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2296-2298)AGA>ACA		zinc finger protein 616							151.0	138.0	142.0					19																	52618120		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52618120C>G	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.2297G>C	19.37:g.52618120C>G	ENSP00000471000:p.Arg766Thr					ZNF616_uc002pyn.2_RNA	p.R766T	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	2580	-			766			C2H2-type 21.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.2297G>C	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	4.976	0.181233	0.09495	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.8	0.677	0.17964	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08088	0.0202	N	0.00462	-1.47	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.33624	-0.9861	8	0.33141	T	0.24	.	6.9647	0.24617	0.4997:0.5002:0.0:0.0	.	766	Q08AN1	ZN616_HUMAN	T	766	.	ENSP00000328722:R766T	R	-	2	0	ZNF616	57309932	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.769000	0.00780	-0.010000	0.14271	-0.516000	0.04426	AGA		PASS	0.378	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1	XM_030892		5	107	5	107	---	---	---	---
ZNF528	84436	broad.mit.edu	37	19	52919907	52919907	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:52919907G>C	ENST00000360465.3	+	7	2228	c.1802G>C	c.(1801-1803)gGa>gCa	p.G601A	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	601					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.G601A(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCACATTGGAGAGAAACCT	0.418																																						uc002pzh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1801-1803)GGA>GCA		zinc finger protein 528							88.0	87.0	87.0					19																	52919907		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919907G>C	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1802G>C	19.37:g.52919907G>C	ENSP00000353652:p.Gly601Ala					ZNF528_uc002pzi.2_Missense_Mutation_p.G368A	p.G601A	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	2228	+			601					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1802G>C	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	8.335	0.827274	0.16749	.	.	ENSG00000167555	ENST00000360465	T	0.26373	1.74	1.85	0.671	0.17929	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46502	0.1396	M	0.74258	2.255	0.19575	N	0.999965	D	0.71674	0.998	D	0.87578	0.998	T	0.24404	-1.0161	9	0.87932	D	0	.	8.1096	0.30907	0.0:0.0:0.7565:0.2435	.	601	Q3MIS6	ZN528_HUMAN	A	601	ENSP00000353652:G601A	ENSP00000353652:G601A	G	+	2	0	ZNF528	57611719	0.709000	0.27886	0.036000	0.18154	0.071000	0.16799	1.649000	0.37281	0.072000	0.16694	0.491000	0.48974	GGA		PASS	0.418	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		4	99	4	99	---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54867877	54867877	+	Splice_Site	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:54867877C>A	ENST00000391742.2	-	8	779		c.e8-1		CTD-2587H19.1_ENST00000596234.1_lincRNA|LAIR1_ENST00000313038.6_Splice_Site|LAIR1_ENST00000391743.3_Splice_Site|LAIR1_ENST00000463489.1_Splice_Site|LAIR1_ENST00000348231.4_Splice_Site|LAIR1_ENST00000474878.1_Splice_Site|LAIR1_ENST00000434277.2_Splice_Site			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CAGGTCAGGCCTAAGAGGAAA	0.597																																						uc002qfk.1																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e8-1		leukocyte-associated immunoglobulin-like							55.0	57.0	56.0					19																	54867877		2203	4300	6503	SO:0001630	splice_region_variant	3903					integral to membrane|plasma membrane	protein binding|receptor activity	g.chr19:54867877C>A	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.627-1G>T	19.37:g.54867877C>A						LAIR1_uc002qfl.1_Splice_Site_p.R192_splice|LAIR1_uc002qfm.1_Splice_Site_p.R208_splice|LAIR1_uc002qfn.1_Splice_Site_p.R191_splice|LAIR1_uc010yex.1_Splice_Site_p.R202_splice|LAIR1_uc002qfo.2_Splice_Site_p.R191_splice	p.R209_splice	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0573)	8	937	-	Ovarian(34;0.19)								Splice_Site	SNP	ENST00000391742.2	37	c.627_splice	CCDS12891.1	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776416	0.16051	.	.	ENSG00000167613	ENST00000391743;ENST00000391742;ENST00000434277;ENST00000348231;ENST00000313038;ENST00000474878	.	.	.	4.05	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.999967	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5802	0.27961	0.0:0.8848:0.0:0.1152	.	.	.	.	.	-1	.	.	.	-	.	.	LAIR1	59559689	0.858000	0.29795	0.418000	0.26571	0.006000	0.05464	3.006000	0.49529	1.290000	0.44636	0.650000	0.86243	.		PASS	0.597	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140506.1		Intron	14	50	14	50	---	---	---	---
NLRP11	204801	broad.mit.edu	37	19	56320725	56320725	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:56320725G>C	ENST00000589093.1	-	3	1344	c.1251C>G	c.(1249-1251)ctC>ctG	p.L417L	NLRP11_ENST00000592953.1_Silent_p.L318L|NLRP11_ENST00000443188.1_Silent_p.L417L|NLRP11_ENST00000589824.2_Silent_p.L417L|NLRP11_ENST00000360133.3_Silent_p.L417L			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	417	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.L417L(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)		CAACACATCTGAGGTCTTCAC	0.468																																						uc010ygf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(1249-1251)CTC>CTG		NLR family, pyrin domain containing 11							63.0	66.0	65.0					19																	56320725		2203	4300	6503	SO:0001819	synonymous_variant	204801						ATP binding	g.chr19:56320725G>C	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.1251C>G	19.37:g.56320725G>C						NLRP11_uc002qlz.2_Silent_p.L318L|NLRP11_uc002qmb.2_Silent_p.L318L|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA	p.L417L	NM_145007	NP_659444	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	5	1962	-		Colorectal(82;0.0002)	417			NACHT.		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	c.1251C>G	CCDS12935.1																																																																																				PASS	0.468	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		3	99	3	99	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57326512	57326513	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:57326512_57326513CC>AA	ENST00000326441.9	-	10	3660_3661	c.3297_3298GG>TT	c.(3295-3300)aaGGat>aaTTat	p.1099_1100KD>NY	ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.1099_1100KD>NY|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.973_974KD>NY|PEG3_ENST00000598410.1_Missense_Mutation_p.975_976KD>NY	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1099					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.D1100Y(2)|p.K1099_D1100>NY(2)|p.K1099N(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)		TCAGGGTCATCCTTCTGAGGGT	0.51																																						uc002qnu.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3298-3300)GAT>TAT|c.(3295-3297)AAG>AAT		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.chr19:57326512C>A|g.chr19:57326513C>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.3297_3298delinsAA	19.37:g.57326512_57326513delinsAA	ENSP00000326581:p.K1099_D1100delinsNY					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.D1071Y|PEG3_uc002qnv.2_Missense_Mutation_p.D1100Y|PEG3_uc002qnw.2_Missense_Mutation_p.D976Y|PEG3_uc002qnx.2_Missense_Mutation_p.D974Y|PEG3_uc010etr.2_Missense_Mutation_p.D1100Y|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.K1070N|PEG3_uc002qnv.2_Missense_Mutation_p.K1099N|PEG3_uc002qnw.2_Missense_Mutation_p.K975N|PEG3_uc002qnx.2_Missense_Mutation_p.K973N|PEG3_uc010etr.2_Missense_Mutation_p.K1099N	p.D1100Y|p.K1099N	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3649|3648	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1100|1099					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3298G>T|c.3297G>T	CCDS12948.1																																																																																				PASS	0.510	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			13|14	141|138	13	138	---	---	---	---
ZNF324	25799	broad.mit.edu	37	19	58982276	58982276	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr19:58982276G>C	ENST00000536459.2	+	4	1126	c.417G>C	c.(415-417)gtG>gtC	p.V139V	ZNF324_ENST00000196482.3_Silent_p.V139V|ZNF324_ENST00000535298.1_5'Flank			O75467	Z324A_HUMAN	zinc finger protein 324	139					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.V139V(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCACGGGGGTGTCGGTGATCT	0.637																																						uc002qsw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)GTG>GTC		zinc finger protein 324							80.0	84.0	82.0					19																	58982276		2203	4300	6503	SO:0001819	synonymous_variant	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982276G>C	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.417G>C	19.37:g.58982276G>C						ZNF324_uc002qsx.1_5'Flank	p.V139V	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	511	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	139					B3KRX1	Silent	SNP	ENST00000536459.2	37	c.417G>C	CCDS12981.1																																																																																				PASS	0.637	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347		6	144	6	144	---	---	---	---
NRSN2	80023	broad.mit.edu	37	20	334113	334113	+	Missense_Mutation	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:334113C>T	ENST00000382291.3	+	4	689	c.449C>T	c.(448-450)cCc>cTc	p.P150L	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.P150L|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	150						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)		p.P150L(1)		endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				AAGGCAGAGCCCTTGGACCCC	0.617																																						uc002wdi.3																			1	Substitution - Missense(1)		lung(1)		0						c.(448-450)CCC>CTC		neurensin 2							67.0	61.0	63.0					20																	334113		2203	4300	6503	SO:0001583	missense	80023					integral to membrane|plasma membrane|transport vesicle		g.chr20:334113C>T	AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.449C>T	20.37:g.334113C>T	ENSP00000371728:p.Pro150Leu					NRSN2_uc002wdj.2_RNA|NRSN2_uc002wdl.2_Intron	p.P150L	NM_024958	NP_079234	Q9GZP1	NRSN2_HUMAN			4	987	+		all_cancers(10;0.0834)	150					A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	ENST00000382291.3	37	c.449C>T	CCDS12996.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149376	0.57151	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.15718	2.4;2.4	4.66	-0.758	0.11049	.	0.610927	0.16759	N	0.200719	T	0.11196	0.0273	L	0.59436	1.845	0.35046	D	0.760229	B	0.02656	0.0	B	0.09377	0.004	T	0.26360	-1.0105	10	0.13853	T	0.58	-3.8737	0.8292	0.01126	0.1664:0.3885:0.1618:0.2833	.	150	Q9GZP1	NRSN2_HUMAN	L	150	ENSP00000371728:P150L;ENSP00000371722:P150L	ENSP00000371722:P150L	P	+	2	0	NRSN2	282113	0.121000	0.22262	0.916000	0.36221	0.899000	0.52679	0.222000	0.17699	-0.279000	0.09167	0.643000	0.83706	CCC		PASS	0.617	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077446.1	NM_024958		7	85	7	85	---	---	---	---
SLX4IP	128710	broad.mit.edu	37	20	10602001	10602001	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:10602001G>C	ENST00000334534.5	+	7	625	c.445G>C	c.(445-447)Gag>Cag	p.E149Q		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	149								p.E149Q(1)									TTACTTTGCTGAGTGTGCAGA	0.408																																						uc010zre.1																			1	Substitution - Missense(1)		lung(1)		0						c.(445-447)GAG>CAG		hypothetical protein LOC128710							142.0	126.0	131.0					20																	10602001		2203	4300	6503	SO:0001583	missense	128710						protein binding	g.chr20:10602001G>C	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.445G>C	20.37:g.10602001G>C	ENSP00000335557:p.Glu149Gln						p.E149Q	NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN			7	625	+			149					Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.445G>C	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518639	0.44763	.	.	ENSG00000149346	ENST00000334534	T	0.20738	2.05	5.93	2.81	0.32909	.	0.358234	0.28760	N	0.014231	T	0.14527	0.0351	N	0.22421	0.69	0.27550	N	0.950512	P	0.34724	0.465	B	0.37198	0.243	T	0.11494	-1.0585	10	0.36615	T	0.2	-2.9599	10.2933	0.43610	0.0681:0.2509:0.681:0.0	.	149	Q5VYV7	CT094_HUMAN	Q	149	ENSP00000335557:E149Q	ENSP00000335557:E149Q	E	+	1	0	C20orf94	10550001	1.000000	0.71417	0.989000	0.46669	0.998000	0.95712	2.630000	0.46494	0.795000	0.33922	0.557000	0.71058	GAG		PASS	0.408	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608		4	53	4	53	---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31024034	31024034	+	Missense_Mutation	SNP	G	G	C	rs117901891	byFrequency	TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:31024034G>C	ENST00000375687.4	+	13	3943	c.3519G>C	c.(3517-3519)ttG>ttC	p.L1173F	ASXL1_ENST00000306058.5_Missense_Mutation_p.L1168F	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1173					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L1173F(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TAAGGGCTTTGAAGGAGCCTC	0.527			"""F, N, Mis"""		"""MDS, CMML"""																																	uc002wxs.2				Rec	yes		20	20q11.1	171023	F|N|Mis	additional sex combs like 1			L			MDS|CMML		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248						c.(3517-3519)TTG>TTC		additional sex combs like 1 isoform 1							62.0	66.0	65.0					20																	31024034		2203	4300	6503	SO:0001583	missense	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31024034G>C	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3519G>C	20.37:g.31024034G>C	ENSP00000364839:p.Leu1173Phe					ASXL1_uc010geb.2_Missense_Mutation_p.L1064F	p.L1173F	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	3945	+			1173					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	c.3519G>C	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598843	0.46318	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.15834	2.39;2.39	4.43	-0.989	0.10242	.	1.267020	0.05210	N	0.506579	T	0.10465	0.0256	L	0.29908	0.895	0.09310	N	1	P;P	0.38582	0.638;0.638	B;B	0.34242	0.178;0.178	T	0.22103	-1.0226	10	0.52906	T	0.07	0.0012	1.7178	0.02905	0.4258:0.1803:0.2716:0.1222	.	1168;1173	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	F	1173;1173;1173;1094;1168	ENSP00000364839:L1173F;ENSP00000305119:L1168F	ENSP00000305119:L1168F	L	+	3	2	ASXL1	30487695	0.001000	0.12720	0.013000	0.15412	0.821000	0.46438	-0.477000	0.06583	-0.116000	0.11893	0.561000	0.74099	TTG		PASS	0.527	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		8	111	8	111	---	---	---	---
SUN5	140732	broad.mit.edu	37	20	31590668	31590668	+	Splice_Site	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:31590668C>T	ENST00000356173.3	-	2	227	c.135G>A	c.(133-135)atG>atA	p.M45I	SUN5_ENST00000375523.3_Splice_Site_p.M45I|SUN5_ENST00000375519.2_Splice_Site_p.M45I	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	45					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.M45I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						CTTGCTCACTCATGTTTGGGG	0.562																																						uc002wyi.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(133-135)ATG>ATA		sperm associated antigen 4-like							124.0	109.0	114.0					20																	31590668		2203	4300	6503	SO:0001630	splice_region_variant	140732				spermatogenesis			g.chr20:31590668C>T	AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.136+1G>A	20.37:g.31590668C>T							p.M45I	NM_080675	NP_542406	Q8TC36	SUN5_HUMAN			2	228	-			45					A6NJ82|Q5T9R0	Missense_Mutation	SNP	ENST00000356173.3	37	c.135G>A	CCDS13209.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593164	0.28357	.	.	ENSG00000167098	ENST00000356173;ENST00000375523;ENST00000420875;ENST00000375519	T;T;T;T	0.33438	2.69;2.67;1.41;1.49	4.01	-5.65	0.02459	.	5.392440	0.00397	N	0.000055	T	0.24774	0.0601	L	0.34521	1.04	0.09310	N	1	B	0.17667	0.023	B	0.14578	0.011	T	0.22452	-1.0216	10	0.38643	T	0.18	-0.2442	12.2503	0.54595	0.0:0.2734:0.0:0.7266	.	45	Q8TC36	SUN5_HUMAN	I	45;45;34;45	ENSP00000348496:M45I;ENSP00000364673:M45I;ENSP00000400089:M34I;ENSP00000364669:M45I	ENSP00000348496:M45I	M	-	3	0	SUN5	31054329	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.681000	0.01937	-1.302000	0.02335	-0.145000	0.13849	ATG		PASS	0.562	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078659.1	NM_080675	Missense_Mutation	7	80	7	80	---	---	---	---
BPIFA3	128861	broad.mit.edu	37	20	31814288	31814288	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:31814288G>C	ENST00000375454.3	+	5	823	c.613G>C	c.(613-615)Gaa>Caa	p.E205Q	BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.E169Q	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	205						extracellular region (GO:0005576)	lipid binding (GO:0008289)	p.E205Q(1)									ACACATGGTAGAAAGTCAGGT	0.413																																						uc002wyr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(613-615)GAA>CAA		short long palate, lung and nasal epithelium							79.0	73.0	75.0					20																	31814288		2203	4300	6503	SO:0001583	missense	128861					extracellular region	lipid binding	g.chr20:31814288G>C		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.613G>C	20.37:g.31814288G>C	ENSP00000364603:p.Glu205Gln					C20orf71_uc002wys.2_Missense_Mutation_p.E169Q	p.E205Q	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			5	821	+			205					Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	c.613G>C	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	G	1.821	-0.472367	0.04445	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.05139	3.49;3.49	3.78	3.78	0.43462	.	0.000000	0.42294	D	0.000732	T	0.11495	0.0280	L	0.29908	0.895	0.28762	N	0.900826	D;D	0.89917	0.999;1.0	D;D	0.69824	0.961;0.966	T	0.09596	-1.0667	10	0.15952	T	0.53	-5.9932	11.4341	0.50058	0.0:0.0:1.0:0.0	.	169;205	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	Q	205;169	ENSP00000364603:E205Q;ENSP00000364601:E169Q	ENSP00000364601:E169Q	E	+	1	0	BPIFA3	31277949	1.000000	0.71417	0.978000	0.43139	0.035000	0.12851	3.738000	0.55067	2.421000	0.82119	0.462000	0.41574	GAA		PASS	0.413	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466		5	69	5	69	---	---	---	---
PXMP4	11264	broad.mit.edu	37	20	32295600	32295600	+	Missense_Mutation	SNP	G	G	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:32295600G>T	ENST00000409299.3	-	4	643	c.551C>A	c.(550-552)tCc>tAc	p.S184Y	PXMP4_ENST00000344022.3_3'UTR|PXMP4_ENST00000217398.3_3'UTR	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	184						integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)		p.S184Y(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GGTCATGGAGGACTGCAGCGA	0.582																																						uc002wzv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(550-552)TCC>TAC		peroxisomal membrane protein 4 isoform a							149.0	134.0	139.0					20																	32295600		2203	4300	6503	SO:0001583	missense	11264					integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity	g.chr20:32295600G>T	AF072864	CCDS13225.1, CCDS13226.1	20q11.22	2008-07-02	2002-08-29		ENSG00000101417	ENSG00000101417			15920	protein-coding gene	gene with protein product	"""24 kDa peroxisomal intrinsic membrane protein"""		"""peroxisomal membrane protein 4 (24kD)"""			10366717	Standard	NM_183397		Approved	PMP24	uc002wzv.3	Q9Y6I8	OTTHUMG00000032273	ENST00000409299.3:c.551C>A	20.37:g.32295600G>T	ENSP00000386385:p.Ser184Tyr					PXMP4_uc002wzw.2_3'UTR|PXMP4_uc010zuh.1_3'UTR	p.S184Y	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN			4	674	-			184					A2A2I7|Q9H0T4	Missense_Mutation	SNP	ENST00000409299.3	37	c.551C>A	CCDS13225.1	.	.	.	.	.	.	.	.	.	.	g	31	5.067417	0.93898	.	.	ENSG00000101417	ENST00000409299	T	0.50001	0.76	5.73	5.73	0.89815	.	0.048135	0.85682	D	0.000000	T	0.73055	0.3538	M	0.87456	2.885	0.80722	D	1	D	0.65815	0.995	D	0.63033	0.91	T	0.77062	-0.2727	10	0.72032	D	0.01	-40.4742	19.9658	0.97266	0.0:0.0:1.0:0.0	.	184	Q9Y6I8	PXMP4_HUMAN	Y	184	ENSP00000386385:S184Y	ENSP00000386385:S184Y	S	-	2	0	PXMP4	31759261	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.797000	0.99108	2.722000	0.93159	0.638000	0.83543	TCC		PASS	0.582	PXMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078739.2	NM_007238		24	174	24	174	---	---	---	---
ZNF341	84905	broad.mit.edu	37	20	32336822	32336822	+	Missense_Mutation	SNP	A	A	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:32336822A>T	ENST00000375200.1	+	4	798	c.433A>T	c.(433-435)Atg>Ttg	p.M145L	ZNF341_ENST00000342427.2_Missense_Mutation_p.M145L	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	145	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.M145L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CATGTCTGCCATGTCAGCCTT	0.587																																						uc002wzy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(433-435)ATG>TTG		zinc finger protein 341							142.0	103.0	116.0					20																	32336822		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32336822A>T	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.433A>T	20.37:g.32336822A>T	ENSP00000364346:p.Met145Leu					ZNF341_uc002wzx.2_Missense_Mutation_p.M145L|ZNF341_uc010geq.2_Missense_Mutation_p.M55L|ZNF341_uc010ger.2_RNA	p.M145L	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			4	453	+			145			Pro-rich.		A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.433A>T		.	.	.	.	.	.	.	.	.	.	A	23.2	4.383703	0.82792	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.09073	3.27;3.02	5.83	5.83	0.93111	.	0.042103	0.85682	D	0.000000	T	0.10423	0.0255	L	0.59436	1.845	0.51767	D	0.999937	B;B;B	0.33637	0.296;0.296;0.42	B;B;B	0.32211	0.109;0.067;0.142	T	0.12760	-1.0535	10	0.10377	T	0.69	-24.8448	16.1946	0.82018	1.0:0.0:0.0:0.0	.	86;145;145	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	L	145	ENSP00000344308:M145L;ENSP00000364346:M145L	ENSP00000344308:M145L	M	+	1	0	ZNF341	31800483	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.771000	0.91751	2.228000	0.72767	0.528000	0.53228	ATG		PASS	0.587	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				17	87	17	87	---	---	---	---
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						uc002xav.2																			15	Substitution - coding silent(15)		lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	ovary(3)|breast(3)|central_nervous_system(1)	7						c.(805-807)CAG>CAA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_uc002xaw.2_Silent_p.Q269Q|NCOA6_uc010gew.1_Silent_p.Q226Q	p.Q269Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN			8	3378	-			269			TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				PASS	0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		4	71	4	71	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33596469	33596469	+	Silent	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:33596469G>A	ENST00000252015.2	-	13	1682	c.1593C>T	c.(1591-1593)ttC>ttT	p.F531F	TRPC4AP_ENST00000451813.2_Silent_p.F523F|TRPC4AP_ENST00000539834.1_Silent_p.F133F|TRPC4AP_ENST00000432634.2_Silent_p.F492F			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	531					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.F531F(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGACTCACCTGAAAGACGACT	0.512																																						uc002xbk.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1591-1593)TTC>TTT		TRPC4-associated protein isoform a							92.0	91.0	91.0					20																	33596469		2203	4300	6503	SO:0001819	synonymous_variant	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33596469G>A	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1593C>T	20.37:g.33596469G>A						TRPC4AP_uc002xbj.2_5'Flank|TRPC4AP_uc010zuq.1_Silent_p.F122F|TRPC4AP_uc002xbl.2_Silent_p.F523F|TRPC4AP_uc010zur.1_Silent_p.F492F|TRPC4AP_uc002xbm.1_Silent_p.F531F	p.F531F	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		13	1627	-			531					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	c.1593C>T	CCDS13246.1																																																																																				PASS	0.512	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		9	139	9	139	---	---	---	---
MANBAL	63905	broad.mit.edu	37	20	35929762	35929762	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:35929762C>G	ENST00000373605.3	+	3	908	c.96C>G	c.(94-96)ttC>ttG	p.F32L	MANBAL_ENST00000373606.3_Missense_Mutation_p.F32L|MANBAL_ENST00000397152.3_Missense_Mutation_p.F32L|MANBAL_ENST00000397150.1_Missense_Mutation_p.F32L|MANBAL_ENST00000397151.1_Missense_Mutation_p.F32L|MANBAL_ENST00000397156.3_Missense_Mutation_p.F32L			Q9NQG1	MANBL_HUMAN	mannosidase, beta A, lysosomal-like	32						integral component of membrane (GO:0016021)		p.F32L(1)		large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GAGCCATCTTCCAGCTCATCT	0.607																																						uc002xgu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(94-96)TTC>TTG		mannosidase, beta A, lysosomal-like							108.0	96.0	100.0					20																	35929762		2203	4300	6503	SO:0001583	missense	63905					integral to membrane		g.chr20:35929762C>G		CCDS13293.1	20q11.23	2013-09-20			ENSG00000101363	ENSG00000101363			15799	protein-coding gene	gene with protein product							Standard	NM_022077		Approved	dJ1141E15.2	uc002xgv.3	Q9NQG1	OTTHUMG00000032414	ENST00000373605.3:c.96C>G	20.37:g.35929762C>G	ENSP00000362707:p.Phe32Leu					MANBAL_uc002xgv.2_Missense_Mutation_p.F32L|MANBAL_uc002xgw.2_RNA|MANBAL_uc010gfx.2_RNA|MANBAL_uc010gfy.2_RNA	p.F32L	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN			3	308	+		Myeloproliferative disorder(115;0.00878)	32			Helical; (Potential).		A8KAA6|E1P5V3	Missense_Mutation	SNP	ENST00000373605.3	37	c.96C>G	CCDS13293.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.402622	0.83230	.	.	ENSG00000101363	ENST00000373606;ENST00000397156;ENST00000397150;ENST00000397152;ENST00000373605;ENST00000397151	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	.	.	.	0.53688	D	0.99997	D	0.57257	0.979	D	0.74023	0.982	T	0.81286	-0.1001	8	0.87932	D	0	-27.0014	15.2803	0.73778	0.0:1.0:0.0:0.0	.	32	Q9NQG1	MANBL_HUMAN	L	32	.	ENSP00000362707:F32L	F	+	3	2	MANBAL	35363176	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.659000	0.46741	2.669000	0.90835	0.561000	0.74099	TTC		PASS	0.607	MANBAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079096.2	NM_022077		6	129	6	129	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37518254	37518254	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:37518254G>C	ENST00000299824.1	+	3	456	c.267G>C	c.(265-267)aaG>aaC	p.K89N	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K89N|PPP1R16B_ENST00000468265.1_3'UTR	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	89					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.K89N(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACTTCCTGAAGAATAAGGTCA	0.607																																						uc002xje.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(265-267)AAG>AAC		protein phosphatase 1 regulatory inhibitor							191.0	173.0	179.0					20																	37518254		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37518254G>C	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.267G>C	20.37:g.37518254G>C	ENSP00000299824:p.Lys89Asn					PPP1R16B_uc010ggc.2_Missense_Mutation_p.K89N	p.K89N	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			3	456	+		Myeloproliferative disorder(115;0.00878)	89					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.267G>C	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.66|10.66	1.412715|1.412715	0.25465|0.25465	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.64618|.	-0.11;-0.11|.	4.9|4.9	4.9|4.9	0.64082|0.64082	Ankyrin repeat-containing domain (4);|.	0.291745|.	0.32190|.	N|.	0.006450|.	T|T	0.40448|0.40448	0.1117|0.1117	N|N	0.17631|0.17631	0.505|0.505	0.40281|0.40281	D|D	0.978395|0.978395	B;B|.	0.09022|.	0.002;0.002|.	B;B|.	0.15052|.	0.012;0.012|.	T|T	0.23547|0.23547	-1.0185|-1.0185	10|5	0.27785|.	T|.	0.31|.	.|.	8.4192|8.4192	0.32690|0.32690	0.0811:0.1568:0.7621:0.0|0.0811:0.1568:0.7621:0.0	.|.	89;89|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	N|T	89|32	ENSP00000299824:K89N;ENSP00000362428:K89N|.	ENSP00000299824:K89N|.	K|R	+|+	3|2	2|0	PPP1R16B|PPP1R16B	36951668|36951668	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	2.159000|2.159000	0.42339|0.42339	2.550000|2.550000	0.86006|0.86006	0.655000|0.655000	0.94253|0.94253	AAG|AGA		PASS	0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		8	334	8	334	---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44666022	44666022	+	Silent	SNP	C	C	T			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:44666022C>T	ENST00000454036.2	+	6	728	c.679C>T	c.(679-681)Ctg>Ttg	p.L227L	SLC12A5_ENST00000243964.3_Silent_p.L204L|SLC12A5_ENST00000372315.1_Silent_p.L204L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	227					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.L204L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGAAATCCTGCTGGTAAGAGA	0.582																																						uc010zxl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(679-681)CTG>TTG		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						62.0	53.0	56.0					20																	44666022		2203	4300	6503	SO:0001819	synonymous_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44666022C>T	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.679C>T	20.37:g.44666022C>T						SLC12A5_uc002xra.2_Silent_p.L204L|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.L204L	p.L227L	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			6	755	+		Myeloproliferative disorder(115;0.0122)	227			Helical; (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	ENST00000454036.2	37	c.679C>T	CCDS46610.1																																																																																				PASS	0.582	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			3	52	3	52	---	---	---	---
ARFGEF2	10564	broad.mit.edu	37	20	47611021	47611021	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:47611021C>G	ENST00000371917.4	+	22	3007	c.3007C>G	c.(3007-3009)Cag>Gag	p.Q1003E		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1003					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)	p.Q1003E(1)		breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGAGCTCGCTCAGCTGATAGG	0.493																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3																			1	Substitution - Missense(1)		lung(1)	breast(3)|upper_aerodigestive_tract(1)	4						c.(3007-3009)CAG>GAG		ADP-ribosylation factor guanine							71.0	66.0	68.0					20																	47611021		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47611021C>G	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3007C>G	20.37:g.47611021C>G	ENSP00000360985:p.Gln1003Glu					ARFGEF2_uc010zyf.1_Missense_Mutation_p.Q296E	p.Q1003E	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		22	3159	+			1003					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.3007C>G	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	C	32	5.136697	0.94517	.	.	ENSG00000124198	ENST00000371917	T	0.63255	-0.03	5.65	5.65	0.86999	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	M	0.91354	3.2	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.86907	0.2058	10	0.87932	D	0	.	20.0965	0.97849	0.0:1.0:0.0:0.0	.	1003	Q9Y6D5	BIG2_HUMAN	E	1003	ENSP00000360985:Q1003E	ENSP00000360985:Q1003E	Q	+	1	0	ARFGEF2	47044428	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.776000	0.85560	2.824000	0.97209	0.655000	0.94253	CAG		PASS	0.493	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420		4	112	4	112	---	---	---	---
C20orf166-AS1	253868	broad.mit.edu	37	20	61143831	61143831	+	RNA	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr20:61143831G>C	ENST00000475015.1	-	0	507				C20orf166-AS1_ENST00000436101.1_RNA|C20orf166-AS1_ENST00000412495.1_RNA			Q96NR2	C2AS1_HUMAN	C20orf166 antisense RNA 1									p.T6R(1)									GAGGTGCCCTGTGGCCAGAGT	0.662																																						uc002ycz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(16-18)ACA>AGA		hypothetical protein LOC253868							101.0	92.0	95.0					20																	61143831		2203	4300	6503			253868							g.chr20:61143831G>C	AK054875		20q13.33	2012-10-12	2012-08-15	2011-08-10	ENSG00000174403	ENSG00000174403		"""Long non-coding RNAs"""	26393	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 200"", ""non-protein coding RNA 335"", ""C20orf166 antisense RNA 1 (non-protein coding)"""	C20orf200, NCRNA00335			Standard	NR_033263		Approved	FLJ30313	uc002ycz.3	Q96NR2	OTTHUMG00000048002		20.37:g.61143831G>C						C20orf200_uc002ycy.2_RNA	p.T6R	NM_152757	NP_689970			BRCA - Breast invasive adenocarcinoma(19;7.17e-06)		3	508	-	Breast(26;2.05e-08)							Q52LN1	Missense_Mutation	SNP	ENST00000475015.1	37	c.17C>G																																																																																					PASS	0.662	C20orf166-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000109266.2	NR_033263		10	137	10	137	---	---	---	---
LIPI	149998	broad.mit.edu	37	21	15561661	15561661	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr21:15561661C>A	ENST00000536861.1	-	2	125	c.126G>T	c.(124-126)gaG>gaT	p.E42D	LIPI_ENST00000344577.2_Missense_Mutation_p.E63D			Q6XZB0	LIPI_HUMAN	lipase, member I	42					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.E63D(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TCAGAATGGTCTCTATTCTCG	0.328																																						uc002yjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(187-189)GAG>GAT		lipase, member I							111.0	109.0	110.0					21																	15561661		2203	4300	6503	SO:0001583	missense	149998				lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	g.chr21:15561661C>A	BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.126G>T	21.37:g.15561661C>A	ENSP00000440381:p.Glu42Asp					LIPI_uc010gkw.1_5'UTR	p.E63D	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)	2	199	-			42					G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37	c.189G>T		.	.	.	.	.	.	.	.	.	.	C	2.256	-0.370516	0.05069	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.90197	-2.63;-2.63	5.3	-1.17	0.09648	.	0.398543	0.29799	N	0.011179	T	0.72350	0.3449	N	0.04297	-0.235	0.09310	N	1	B	0.15473	0.013	B	0.15052	0.012	T	0.61317	-0.7087	10	0.33141	T	0.24	.	3.5041	0.07684	0.3054:0.229:0.0:0.4657	.	63	Q6XZB0-2	.	D	63;42	ENSP00000343331:E63D;ENSP00000440381:E42D	ENSP00000343331:E63D	E	-	3	2	LIPI	14483532	0.003000	0.15002	0.001000	0.08648	0.019000	0.09904	-0.017000	0.12590	0.062000	0.16340	-0.895000	0.02911	GAG		PASS	0.328	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_198996		11	94	11	94	---	---	---	---
NRIP1	8204	broad.mit.edu	37	21	16337172	16337172	+	Silent	SNP	C	C	T	rs201612350		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr21:16337172C>T	ENST00000400202.1	-	3	4054	c.3342G>A	c.(3340-3342)acG>acA	p.T1114T	NRIP1_ENST00000400199.1_Silent_p.T1114T|NRIP1_ENST00000318948.4_Silent_p.T1114T|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1114	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.T1114T(1)		cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AAGAAGCTTTCGTTTCTGCAG	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		18676	0.001		0.0	False		,,,				2504	0.0					uc002yjx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3340-3342)ACG>ACA		nuclear receptor interacting protein 1							105.0	106.0	106.0					21																	16337172		2203	4300	6503	SO:0001819	synonymous_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16337172C>T	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3342G>A	21.37:g.16337172C>T							p.T1114T	NM_003489	NP_003480	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	4	3940	-			1114					Q8IWE8	Silent	SNP	ENST00000400202.1	37	c.3342G>A	CCDS13568.1																																																																																				PASS	0.438	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		9	121	9	121	---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35172220	35172220	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr21:35172220G>C	ENST00000381318.3	+	19	2579	c.2291G>C	c.(2290-2292)gGa>gCa	p.G764A	ITSN1_ENST00000399353.1_Missense_Mutation_p.G727A|ITSN1_ENST00000399326.3_Missense_Mutation_p.G764A|ITSN1_ENST00000399338.4_Missense_Mutation_p.G764A|ITSN1_ENST00000437442.2_Missense_Mutation_p.G764A|ITSN1_ENST00000399367.3_Missense_Mutation_p.G764A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Missense_Mutation_p.G764A|ITSN1_ENST00000381285.4_Missense_Mutation_p.G764A|ITSN1_ENST00000379960.5_Missense_Mutation_p.G764A|ITSN1_ENST00000381291.4_Missense_Mutation_p.G764A|ITSN1_ENST00000399349.1_Missense_Mutation_p.G764A|ITSN1_ENST00000399352.1_Missense_Mutation_p.G764A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	764	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G764A(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATCCAGCCAGGAGACATAGTC	0.413																																						uc002yta.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2290-2292)GGA>GCA		intersectin 1 isoform ITSN-l							92.0	92.0	92.0					21																	35172220		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35172220G>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.2291G>C	21.37:g.35172220G>C	ENSP00000370719:p.Gly764Ala					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.G764A|ITSN1_uc010gmg.2_Missense_Mutation_p.G727A|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.G764A|ITSN1_uc010gmi.2_Missense_Mutation_p.G727A|ITSN1_uc010gmj.2_Missense_Mutation_p.G648A|ITSN1_uc002ysy.2_Missense_Mutation_p.G764A|ITSN1_uc002ysx.2_Missense_Mutation_p.G727A|ITSN1_uc002ytb.1_Missense_Mutation_p.G764A|ITSN1_uc002ytc.1_Missense_Mutation_p.G764A|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.G727A|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.G764A|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.G698A|ITSN1_uc002ytf.1_5'Flank	p.G764A	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			19	2559	+			764			SH3 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.2291G>C	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420019	0.83559	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.65	5.65	0.86999	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.86053	0.5841	M	0.90483	3.12	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.999;1.0;1.0;0.999;1.0;1.0;0.997;1.0	D	0.88273	0.2931	10	0.87932	D	0	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	727;727;727;764;764;764;764;764;764;727	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	A	727;764;764;764;764;764;764;764;764;764;764;764;764;764	ENSP00000382290:G727A;ENSP00000370719:G764A;ENSP00000370691:G764A;ENSP00000370685:G764A;ENSP00000382301:G764A;ENSP00000382289:G764A;ENSP00000382292:G764A;ENSP00000382286:G764A;ENSP00000382275:G764A;ENSP00000387377:G764A;ENSP00000382265:G764A;ENSP00000369294:G764A	ENSP00000369294:G764A	G	+	2	0	ITSN1	34094090	1.000000	0.71417	0.723000	0.30687	0.991000	0.79684	8.502000	0.90505	2.673000	0.90976	0.557000	0.71058	GGA		PASS	0.413	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		3	121	3	121	---	---	---	---
ZBTB21	49854	broad.mit.edu	37	21	43411868	43411868	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr21:43411868C>A	ENST00000310826.5	-	3	2520	c.2337G>T	c.(2335-2337)gaG>gaT	p.E779D	ZBTB21_ENST00000398505.3_Missense_Mutation_p.E578D|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E779D|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E779D	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	779					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.E779D(1)									TGCGCATGCACTCGAGGCAGG	0.537																																						uc002zab.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2335-2337)GAG>GAT		zinc finger protein 295 isoform L							166.0	171.0	169.0					21																	43411868		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43411868C>A	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2337G>T	21.37:g.43411868C>A	ENSP00000308759:p.Glu779Asp					ZNF295_uc002yzz.3_Missense_Mutation_p.E578D|ZNF295_uc002yzy.3_Missense_Mutation_p.E779D|ZNF295_uc002zaa.3_Missense_Mutation_p.E779D	p.E779D	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2551	-			779			C2H2-type 5.		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2337G>T	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.338709	0.60963	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.10005	3.38;2.92;2.92;2.92	5.32	1.24	0.21308	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.138197	0.47455	D	0.000224	T	0.14141	0.0342	M	0.65498	2.005	0.41986	D	0.99082	B;P	0.44946	0.003;0.846	B;P	0.47645	0.012;0.553	T	0.04347	-1.0958	10	0.37606	T	0.19	-29.2805	5.0012	0.14266	0.1145:0.5455:0.2235:0.1165	.	578;779	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	D	578;779;779;779	ENSP00000381517:E578D;ENSP00000308759:E779D;ENSP00000381512:E779D;ENSP00000381523:E779D	ENSP00000308759:E779D	E	-	3	2	ZNF295	42284937	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	0.741000	0.26202	0.281000	0.22233	0.563000	0.77884	GAG		PASS	0.537	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		31	217	31	217	---	---	---	---
ZBTB21	49854	broad.mit.edu	37	21	43411872	43411872	+	Missense_Mutation	SNP	A	A	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr21:43411872A>C	ENST00000310826.5	-	3	2516	c.2333T>G	c.(2332-2334)cTc>cGc	p.L778R	ZBTB21_ENST00000398505.3_Missense_Mutation_p.L577R|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398511.3_Missense_Mutation_p.L778R|ZBTB21_ENST00000398499.1_Missense_Mutation_p.L778R	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	778					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.L778R(1)									CATGCACTCGAGGCAGGTCAG	0.532																																						uc002zab.3																			1	Substitution - Missense(1)	p.L778F(1)	lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2332-2334)CTC>CGC		zinc finger protein 295 isoform L							163.0	169.0	167.0					21																	43411872		2203	4300	6503	SO:0001583	missense	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43411872A>C	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2333T>G	21.37:g.43411872A>C	ENSP00000308759:p.Leu778Arg					ZNF295_uc002yzz.3_Missense_Mutation_p.L577R|ZNF295_uc002yzy.3_Missense_Mutation_p.L778R|ZNF295_uc002zaa.3_Missense_Mutation_p.L778R	p.L778R	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2547	-			778			C2H2-type 5.		Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	c.2333T>G	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	A	16.89	3.247559	0.59103	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.07567	3.35;3.18;3.18;3.18	5.32	5.32	0.75619	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.64402	D	0.000008	T	0.25382	0.0617	M	0.63843	1.955	0.58432	D	0.999998	P;D	0.89917	0.798;1.0	P;D	0.91635	0.69;0.999	T	0.01185	-1.1425	10	0.27082	T	0.32	-17.5995	15.5868	0.76489	1.0:0.0:0.0:0.0	.	577;778	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	R	577;778;778;778	ENSP00000381517:L577R;ENSP00000308759:L778R;ENSP00000381512:L778R;ENSP00000381523:L778R	ENSP00000308759:L778R	L	-	2	0	ZNF295	42284941	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.711000	0.91396	2.146000	0.66826	0.460000	0.39030	CTC		PASS	0.532	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		32	230	32	230	---	---	---	---
KRTAP10-5	386680	broad.mit.edu	37	21	45999956	45999956	+	Missense_Mutation	SNP	G	G	T	rs117046341		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr21:45999956G>T	ENST00000400372.1	-	1	525	c.500C>A	c.(499-501)cCc>cAc	p.P167H	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	167	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.P167H(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						CTGCTGGCAGGGGGAGGAGGT	0.597																																						uc002zfl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(499-501)CCC>CAC		keratin associated protein 10-5							160.0	164.0	163.0					21																	45999956		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999956G>T	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.500C>A	21.37:g.45999956G>T	ENSP00000383223:p.Pro167His					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.P167H	NM_198694	NP_941967	P60370	KR105_HUMAN			1	526	-			167			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.500C>A	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	g	2.496	-0.316271	0.05422	.	.	ENSG00000241123	ENST00000400372	T	0.01379	4.96	2.22	0.265	0.15612	.	.	.	.	.	T	0.08802	0.0218	M	0.92691	3.335	0.09310	N	1	D	0.89917	1.0	D	0.74674	0.984	T	0.06899	-1.0801	9	0.56958	D	0.05	.	5.8717	0.18807	0.2983:0.0:0.7017:0.0	.	167	P60370	KR105_HUMAN	H	167	ENSP00000383223:P167H	ENSP00000383223:P167H	P	-	2	0	KRTAP10-5	44824384	0.010000	0.17322	0.002000	0.10522	0.107000	0.19398	-0.276000	0.08514	-0.085000	0.12573	0.455000	0.32223	CCC		PASS	0.597	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			12	218	12	218	---	---	---	---
ZNF280B	140883	broad.mit.edu	37	22	22843402	22843402	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr22:22843402C>G	ENST00000406426.1	-	4	1064	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	ZNF280B_ENST00000360412.2_Missense_Mutation_p.E108Q			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	108					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.E108Q(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GATCTCGATTCAAGTTGGGAA	0.398																																						uc002zwc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(322-324)GAA>CAA		zinc finger protein 280B							180.0	167.0	171.0					22																	22843402		2203	4300	6503	SO:0001583	missense	140883				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22843402C>G	AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.322G>C	22.37:g.22843402C>G	ENSP00000385998:p.Glu108Gln					LOC96610_uc011aim.1_Intron	p.E108Q	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	4	1098	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	108						Missense_Mutation	SNP	ENST00000406426.1	37	c.322G>C	CCDS13799.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.663592	0.47572	.	.	ENSG00000198477	ENST00000406426;ENST00000360412	T;T	0.24723	1.84;1.84	4.55	4.55	0.56014	.	.	.	.	.	T	0.49592	0.1566	M	0.73962	2.25	0.30952	N	0.724586	D	0.69078	0.997	D	0.72982	0.979	T	0.52403	-0.8580	9	0.51188	T	0.08	-12.4864	13.0213	0.58789	0.0:1.0:0.0:0.0	.	108	Q86YH2	Z280B_HUMAN	Q	108	ENSP00000385998:E108Q;ENSP00000353586:E108Q	ENSP00000353586:E108Q	E	-	1	0	ZNF280B	21173402	1.000000	0.71417	0.963000	0.40424	0.348000	0.29142	2.333000	0.43912	2.520000	0.84964	0.585000	0.79938	GAA		PASS	0.398	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321170.2	NM_080764		4	153	4	153	---	---	---	---
LIMK2	3985	broad.mit.edu	37	22	31667137	31667137	+	Missense_Mutation	SNP	A	A	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr22:31667137A>G	ENST00000331728.4	+	12	1447	c.1333A>G	c.(1333-1335)Atg>Gtg	p.M445V	LIMK2_ENST00000406516.1_Missense_Mutation_p.M367V|LIMK2_ENST00000340552.4_Missense_Mutation_p.M424V|LIMK2_ENST00000444929.2_Missense_Mutation_p.M199V|LIMK2_ENST00000333611.4_Missense_Mutation_p.M424V	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	445	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.M445V(1)|p.M424V(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TTTGCACTCTATGTGCATCAT	0.547																																						uc003akh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1333-1335)ATG>GTG		LIM domain kinase 2 isoform 2a							179.0	136.0	150.0					22																	31667137		2203	4300	6503	SO:0001583	missense	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31667137A>G	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1333A>G	22.37:g.31667137A>G	ENSP00000332687:p.Met445Val					LIMK2_uc003akg.2_Missense_Mutation_p.M362V|LIMK2_uc003aki.2_Missense_Mutation_p.M199V|LIMK2_uc003akj.2_Missense_Mutation_p.M424V|LIMK2_uc003akk.2_Missense_Mutation_p.M424V|LIMK2_uc011aln.1_Missense_Mutation_p.M362V	p.M445V	NM_005569	NP_005560	P53671	LIMK2_HUMAN			12	1478	+			445			Protein kinase.		A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Missense_Mutation	SNP	ENST00000331728.4	37	c.1333A>G	CCDS13891.1	.	.	.	.	.	.	.	.	.	.	.	12.75	2.032165	0.35893	.	.	ENSG00000182541	ENST00000406516;ENST00000444929;ENST00000331728;ENST00000436394;ENST00000333611;ENST00000340552	T;D;D;D;T	0.82255	-0.15;-1.59;-1.59;-1.59;-0.15	5.28	4.25	0.50352	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041076	0.85682	D	0.000000	T	0.76550	0.4003	N	0.16790	0.44	0.48571	D	0.999671	B;B;B;B;B	0.33171	0.23;0.368;0.4;0.252;0.005	B;B;B;B;B	0.43536	0.255;0.386;0.371;0.423;0.006	T	0.76000	-0.3119	10	0.87932	D	0	-36.5902	10.2391	0.43301	0.9218:0.0:0.0782:0.0	.	477;424;199;445;367	F5GY29;Q7L3H5;E7EUC1;P53671;B5MC51	.;.;.;LIMK2_HUMAN;.	V	367;199;445;477;424;424	ENSP00000384602:M367V;ENSP00000409522:M199V;ENSP00000332687:M445V;ENSP00000330470:M424V;ENSP00000339916:M424V	ENSP00000332687:M445V	M	+	1	0	LIMK2	29997137	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	6.857000	0.75455	0.853000	0.35312	-0.467000	0.05162	ATG		PASS	0.547	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		3	94	3	94	---	---	---	---
XRCC6	2547	broad.mit.edu	37	22	42049691	42049691	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr22:42049691C>G	ENST00000359308.4	+	8	1943	c.1288C>G	c.(1288-1290)Cca>Gca	p.P430A	XRCC6_ENST00000405878.1_Missense_Mutation_p.P430A|XRCC6_ENST00000428575.2_Missense_Mutation_p.P297A|XRCC6_ENST00000360079.3_Missense_Mutation_p.P430A|XRCC6_ENST00000405506.1_Missense_Mutation_p.P380A|XRCC6_ENST00000402580.3_Missense_Mutation_p.P389A			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	430	Ku.				brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)	p.P430A(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						GGTGACTCCTCCAGGTATGTG	0.473								Non-homologous end-joining																														uc003bao.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|lung(1)|kidney(1)	5						c.(1288-1290)CCA>GCA	Direct_reversal_of_damage|NHEJ	ATP-dependent DNA helicase II, 70 kDa subunit							78.0	74.0	76.0					22																	42049691		2203	4300	6503	SO:0001583	missense	2547				DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding	g.chr22:42049691C>G	J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1288C>G	22.37:g.42049691C>G	ENSP00000352257:p.Pro430Ala					XRCC6_uc003bap.1_Missense_Mutation_p.P389A|XRCC6_uc011apc.1_Missense_Mutation_p.P380A|XRCC6_uc003baq.1_Missense_Mutation_p.P430A|XRCC6_uc003bar.1_Missense_Mutation_p.P430A|XRCC6_uc003bas.1_Missense_Mutation_p.P380A	p.P430A	NM_001469	NP_001460	P12956	XRCC6_HUMAN			9	1358	+			430			Ku.		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	ENST00000359308.4	37	c.1288C>G	CCDS14021.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.893342	0.33442	.	.	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	.	.	.	3.57	1.4	0.22301	Spen Paralogue and Orthologue SPOC, C-terminal-like (2);DNA helicase, ATP-dependent, Ku type (2);	0.195530	0.56097	N	0.000035	T	0.56906	0.2017	M	0.62154	1.92	0.58432	D	0.999995	B;B;B;B	0.34147	0.438;0.099;0.205;0.438	B;B;B;P	0.45506	0.285;0.198;0.2;0.483	T	0.46652	-0.9176	9	0.23302	T	0.38	-0.0915	7.3336	0.26596	0.0:0.7272:0.1772:0.0956	.	380;430;389;430	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	A	430;389;297;430;430;430;380	.	ENSP00000352257:P430A	P	+	1	0	XRCC6	40379637	0.995000	0.38212	0.996000	0.52242	0.912000	0.54170	2.521000	0.45563	0.466000	0.27193	-0.258000	0.10820	CCA		PASS	0.473	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321688.1	NM_001469		5	77	5	77	---	---	---	---
RPL23AP82	284942	broad.mit.edu	37	22	51237496	51237496	+	RNA	SNP	C	C	T	rs145825199		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chr22:51237496C>T	ENST00000480246.1	+	0	746					NR_026982.1													p.R98*(1)									GGCATATGTTCGACTTGCTCC	0.433													.|||	1	0.000199681	0.0	0.0	5008	,	,		19918	0.0		0.001	False		,,,				2504	0.0					uc003bni.2																			1	Substitution - Nonsense(1)		lung(1)		0								Homo sapiens cDNA FLJ75396 complete cds.		C		0,2808		0,0,1404	30.0	27.0	28.0				0.0	22	dbSNP_134	28	3,4857		0,3,2427	no	intergenic				0,3,3831	TT,TC,CC		0.0617,0.0,0.0391			51237496	3,7665	1404	2430	3834			284942							g.chr22:51237496C>T																													22.37:g.51237496C>T						RPL23AP82_uc003bns.2_RNA|RPL23AP82_uc010hbj.2_RNA		NR_026981						4		+									RNA	SNP	ENST00000480246.1	37	c.951C>T																																																																																					PASS	0.433	AC002055.4-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000316621.1			11	115	11	115	---	---	---	---
DHRSX	207063	broad.mit.edu	37	X	2209583	2209583	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:2209583G>C	ENST00000334651.5	-	4	400	c.348C>G	c.(346-348)ttC>ttG	p.F116L		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	116							oxidoreductase activity (GO:0016491)	p.F116L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCTTCATCTTGAACTTCTGCA	0.423																																						uc004cqf.3																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)TTC>TTG		dehydrogenase/reductase (SDR family) X-linked							266.0	255.0	259.0					X																	2209583		2203	4296	6499	SO:0001583	missense	207063						binding|oxidoreductase activity	g.chrX:2209583G>C	AJ293620	CCDS35195.1	Xp22.33 and Yp11.2	2014-05-07	2003-09-12		ENSG00000169084	ENSG00000169084		"""Pseudoautosomal regions / PAR1"""	18399	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 6"", ""short chain dehydrogenase/reductase family 46C, member 1"", ""dehydrogenase/reductase (SDR family) Y-linked"""		"""dehydrogenase/reductase (SDR family) X chromosome"""			11731500, 19027726	Standard	NM_145177		Approved	DHRS5X, DHRSXY, DHRSY, DHRS5Y, SDR46C1, SDR7C6	uc004cqf.4	Q8N5I4	OTTHUMG00000021068	ENST00000334651.5:c.348C>G	X.37:g.2209583G>C	ENSP00000334113:p.Phe116Leu						p.F116L	NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN			4	397	-		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)	116					Q6UWC7|Q8WUS4|Q96GR8|Q9NTF6	Missense_Mutation	SNP	ENST00000334651.5	37	c.348C>G	CCDS35195.1	.	.	.	.	.	.	.	.	.	.	G	9.590	1.125917	0.20959	.	.	ENSG00000169084	ENST00000334651;ENST00000412516;ENST00000444280	D;D;D	0.85629	-2.01;-2.01;-2.01	2.19	2.19	0.27852	NAD(P)-binding domain (1);	0.000000	0.64402	U	0.000001	D	0.84835	0.5560	L	0.35593	1.075	0.27094	N	0.962781	D	0.76494	0.999	D	0.68483	0.958	T	0.75169	-0.3412	10	0.62326	D	0.03	.	6.8335	0.23923	0.1627:0.0:0.8373:0.0	.	116	Q8N5I4	DHRSX_HUMAN	L	116;93;49	ENSP00000334113:F116L;ENSP00000391778:F93L;ENSP00000402741:F49L	ENSP00000334113:F116L	F	-	3	2	DHRSX	2219583	1.000000	0.71417	0.304000	0.25085	0.070000	0.16714	1.107000	0.31110	0.886000	0.36113	0.272000	0.19324	TTC		PASS	0.423	DHRSX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055617.3	NM_145177		4	283	4	283	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32360357	32360357	+	Missense_Mutation	SNP	C	C	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:32360357C>A	ENST00000357033.4	-	41	5988	c.5782G>T	c.(5782-5784)Gca>Tca	p.A1928S	DMD_ENST00000378677.2_Missense_Mutation_p.A1924S	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1928					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.A1928S(1)|p.A1923S(1)|p.A587S(1)|p.A1924S(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTACGCACTGCATTCAGCTCC	0.527																																						uc004dda.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5782-5784)GCA>TCA		dystrophin Dp427m isoform							105.0	74.0	85.0					X																	32360357		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32360357C>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5782G>T	X.37:g.32360357C>A	ENSP00000354923:p.Ala1928Ser					DMD_uc004dcw.2_Missense_Mutation_p.A584S|DMD_uc004dcx.2_Missense_Mutation_p.A587S|DMD_uc004dcz.2_Missense_Mutation_p.A1805S|DMD_uc004dcy.1_Missense_Mutation_p.A1924S|DMD_uc004ddb.1_Missense_Mutation_p.A1920S|DMD_uc010ngo.1_Intron	p.A1928S	NM_004006	NP_003997	P11532	DMD_HUMAN			41	6026	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1928			Spectrin 13.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5782G>T	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	8.954	0.968898	0.18659	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.55052	0.54;0.54	5.76	5.76	0.90799	.	0.000000	0.36778	U	0.002416	T	0.36963	0.0986	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B	0.21071	0.041;0.051;0.051;0.021;0.021	B;B;B;B;B	0.23852	0.029;0.049;0.049;0.034;0.034	T	0.21143	-1.0254	10	0.12103	T	0.63	.	13.814	0.63281	0.1528:0.8472:0.0:0.0	.	1920;1928;1924;587;584	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	S	1920;587;584;1924;1928;1928;1805	ENSP00000367948:A1924S;ENSP00000354923:A1928S	ENSP00000354923:A1928S	A	-	1	0	DMD	32270278	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.881000	0.56152	2.409000	0.81822	0.594000	0.82650	GCA		PASS	0.527	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		6	37	6	37	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028984	37028984	+	Missense_Mutation	SNP	G	G	T	rs199779841		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:37028984G>T	ENST00000358047.3	+	1	2553	c.2501G>T	c.(2500-2502)aGc>aTc	p.S834I		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	834								p.S834I(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGTACATCAAGCACAATGGAG	0.512																																						uc004ddl.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2500-2502)AGC>ATC		hypothetical protein LOC442444							112.0	101.0	105.0					X																	37028984		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37028984G>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2501G>T	X.37:g.37028984G>T	ENSP00000367913:p.Ser834Ile						p.S834I	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	2515	+			834					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.2501G>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	5.764	0.325357	0.10900	.	.	ENSG00000198173	ENST00000358047	T	0.15017	2.46	1.01	-2.02	0.07388	.	.	.	.	.	T	0.27524	0.0676	M	0.76002	2.32	0.09310	N	1	P	0.51653	0.947	P	0.53035	0.716	T	0.12091	-1.0561	9	0.51188	T	0.08	.	6.8029	0.23762	0.2519:0.0:0.7481:0.0	.	834	Q5HY64	FA47C_HUMAN	I	834	ENSP00000367913:S834I	ENSP00000367913:S834I	S	+	2	0	FAM47C	36938905	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-2.027000	0.00932	-2.005000	0.00442	AGC		PASS	0.512	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		32	62	32	62	---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216921	78216921	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:78216921C>G	ENST00000171757.2	+	4	1184	c.904C>G	c.(904-906)Cca>Gca	p.P302A	P2RY10_ENST00000544091.1_Missense_Mutation_p.P302A	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	302						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.P302K(1)|p.P302A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CCTTTTGGATCCAATTCTTTA	0.493																																						uc004ede.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|breast(1)	5						c.(904-906)CCA>GCA		G-protein coupled purinergic receptor P2Y10							194.0	179.0	184.0					X																	78216921		2203	4300	6503	SO:0001583	missense	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216921C>G	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.904C>G	X.37:g.78216921C>G	ENSP00000171757:p.Pro302Ala					P2RY10_uc004edf.2_Missense_Mutation_p.P302A	p.P302A	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1273	+			302			Helical; Name=7; (Potential).		D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	c.904C>G	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.029561	0.75504	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	D;D	0.98807	-5.15;-5.15	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.99083	0.9685	M	0.84846	2.72	0.80722	D	1	D	0.61080	0.989	D	0.67725	0.953	D	0.99556	1.0967	10	0.87932	D	0	.	15.8593	0.79009	0.0:1.0:0.0:0.0	.	302	O00398	P2Y10_HUMAN	A	302	ENSP00000443138:P302A;ENSP00000171757:P302A	ENSP00000171757:P302A	P	+	1	0	P2RY10	78103577	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.417000	0.80156	2.311000	0.77944	0.597000	0.82753	CCA		PASS	0.493	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			7	186	7	186	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106065219	106065219	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:106065219G>A	ENST00000357242.5	+	4	547	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E125K|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.E125K|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.E125K	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	125							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.E125K(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTAATTGCTGAAGAGGGAAA	0.308																																						uc004emo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(373-375)GAA>AAA		TBC1 domain family, member 8B (with GRAM domain)							50.0	51.0	51.0					X																	106065219		2201	4295	6496	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106065219G>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.373G>A	X.37:g.106065219G>A	ENSP00000349781:p.Glu125Lys					MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Missense_Mutation_p.E125K|TBC1D8B_uc004emn.2_Missense_Mutation_p.E125K	p.E125K	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			4	538	+			125					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.373G>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988253	0.93106	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	5.61	5.61	0.85477	.	0.055966	0.64402	D	0.000001	T	0.44850	0.1313	M	0.66297	2.02	0.80722	D	1	P;D;P	0.58620	0.883;0.983;0.953	B;D;P	0.64595	0.354;0.927;0.551	T	0.34502	-0.9826	10	0.59425	D	0.04	-11.0173	17.0839	0.86605	0.0:0.0:1.0:0.0	.	125;125;125	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	K	125	ENSP00000349781:E125K;ENSP00000310675:E125K;ENSP00000421375:E125K;ENSP00000276175:E125K	ENSP00000276175:E125K	E	+	1	0	TBC1D8B	105951875	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.828000	0.99408	2.349000	0.79799	0.594000	0.82650	GAA		PASS	0.308	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		12	37	12	37	---	---	---	---
PLS3	5358	broad.mit.edu	37	X	114871183	114871183	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:114871183G>C	ENST00000420625.2	+	8	918	c.784G>C	c.(784-786)Gag>Cag	p.E262Q	PLS3_ENST00000539310.1_Missense_Mutation_p.E217Q|PLS3_ENST00000289290.3_Missense_Mutation_p.E217Q|PLS3_ENST00000537301.1_Missense_Mutation_p.E240Q|PLS3_ENST00000355899.3_Missense_Mutation_p.E262Q	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	262	Actin-binding 1.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.E262Q(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TGAGACTTTGGAGGAACTTAT	0.383																																					Colon(160;1047 1864 8490 12969 29601)	uc004eqd.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(784-786)GAG>CAG		plastin 3							118.0	117.0	117.0					X																	114871183		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114871183G>C	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.784G>C	X.37:g.114871183G>C	ENSP00000398945:p.Glu262Gln					PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.E240Q|PLS3_uc004eqe.2_Missense_Mutation_p.E262Q|PLS3_uc011mtg.1_Missense_Mutation_p.E235Q|PLS3_uc011mth.1_Missense_Mutation_p.E217Q	p.E262Q	NM_005032	NP_005023	P13797	PLST_HUMAN			8	1174	+			262			Actin-binding 1.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.784G>C	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.574880	0.65878	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.96136	-3.92;-3.92;-3.92;-3.92;-3.92	5.66	5.66	0.87406	Calponin homology domain (2);	0.045650	0.85682	D	0.000000	D	0.94518	0.8235	M	0.77712	2.385	0.80722	D	1	B;B;B	0.31290	0.318;0.088;0.179	B;B;B	0.17979	0.02;0.01;0.01	D	0.93672	0.6991	10	0.62326	D	0.03	-19.1629	17.1434	0.86760	0.0:0.0:1.0:0.0	.	235;240;262	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	Q	262;240;217;262;217	ENSP00000348163:E262Q;ENSP00000445105:E240Q;ENSP00000289290:E217Q;ENSP00000398945:E262Q;ENSP00000445339:E217Q	ENSP00000289290:E217Q	E	+	1	0	PLS3	114777439	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.476000	0.97823	2.363000	0.80096	0.538000	0.68166	GAG		PASS	0.383	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			12	122	12	122	---	---	---	---
PLS3	5358	broad.mit.edu	37	X	114871194	114871194	+	Missense_Mutation	SNP	G	G	A			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:114871194G>A	ENST00000420625.2	+	8	929	c.795G>A	c.(793-795)atG>atA	p.M265I	PLS3_ENST00000539310.1_Missense_Mutation_p.M220I|PLS3_ENST00000289290.3_Missense_Mutation_p.M220I|PLS3_ENST00000537301.1_Missense_Mutation_p.M243I|PLS3_ENST00000355899.3_Missense_Mutation_p.M265I	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	265	Actin-binding 1.				bone development (GO:0060348)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.M265I(1)		NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						AGGAACTTATGAAATTGTCTC	0.378																																					Colon(160;1047 1864 8490 12969 29601)	uc004eqd.2																			1	Substitution - Missense(1)		lung(1)	lung(1)|breast(1)	2						c.(793-795)ATG>ATA		plastin 3							123.0	123.0	123.0					X																	114871194		2203	4300	6503	SO:0001583	missense	5358					cytoplasm	actin binding|calcium ion binding	g.chrX:114871194G>A	L05491	CCDS14568.1, CCDS65312.1	Xq23	2013-01-10	2010-02-10		ENSG00000102024	ENSG00000102024		"""EF-hand domain containing"""	9091	protein-coding gene	gene with protein product		300131	"""plastin 3 (T isoform)"""			8428952	Standard	NM_005032		Approved	T-plastin	uc004eqe.3	P13797	OTTHUMG00000022237	ENST00000420625.2:c.795G>A	X.37:g.114871194G>A	ENSP00000398945:p.Met265Ile					PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.M243I|PLS3_uc004eqe.2_Missense_Mutation_p.M265I|PLS3_uc011mtg.1_Missense_Mutation_p.M238I|PLS3_uc011mth.1_Missense_Mutation_p.M220I	p.M265I	NM_005032	NP_005023	P13797	PLST_HUMAN			8	1185	+			265			Actin-binding 1.		A8K579|B1AQ09|B4DGB4|B7Z6M1|Q86YI6	Missense_Mutation	SNP	ENST00000420625.2	37	c.795G>A	CCDS14568.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551358	0.65311	.	.	ENSG00000102024	ENST00000355899;ENST00000537301;ENST00000289290;ENST00000420625;ENST00000539310	D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65	5.66	5.66	0.87406	Calponin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.93776	0.8010	M	0.70595	2.14	0.80722	D	1	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.04013	0.001;0.001;0.001	D	0.90954	0.4807	10	0.56958	D	0.05	-18.4755	17.1434	0.86760	0.0:0.0:1.0:0.0	.	238;243;265	B4DPW9;B4DGB4;P13797	.;.;PLST_HUMAN	I	265;243;220;265;220	ENSP00000348163:M265I;ENSP00000445105:M243I;ENSP00000289290:M220I;ENSP00000398945:M265I;ENSP00000445339:M220I	ENSP00000289290:M220I	M	+	3	0	PLS3	114777450	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.363000	0.80096	0.538000	0.68166	ATG		PASS	0.378	PLS3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057976.2			14	127	14	127	---	---	---	---
GLUD2	2747	broad.mit.edu	37	X	120182952	120182952	+	Missense_Mutation	SNP	G	G	C	rs10657		TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:120182952G>C	ENST00000328078.1	+	1	1491	c.1414G>C	c.(1414-1416)Gag>Cag	p.E472Q		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	472					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)	p.E472Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GTCTGTTCAAGAGAGTTTAGA	0.413																																						uc004eto.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1414-1416)GAG>CAG		glutamate dehydrogenase 2 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						153.0	135.0	141.0					X																	120182952		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182952G>C	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1414G>C	X.37:g.120182952G>C	ENSP00000327589:p.Glu472Gln						p.E472Q	NM_012084	NP_036216	P49448	DHE4_HUMAN			1	1491	+			472					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1414G>C	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483347	0.26598	.	.	ENSG00000182890	ENST00000328078	D	0.96913	-4.17	2.05	2.05	0.26809	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	L	0.49513	1.565	0.58432	D	0.999999	B	0.24576	0.106	B	0.25405	0.06	D	0.90329	0.4350	10	0.48119	T	0.1	.	9.4506	0.38723	0.0:0.0:1.0:0.0	.	472	P49448	DHE4_HUMAN	Q	472	ENSP00000327589:E472Q	ENSP00000327589:E472Q	E	+	1	0	GLUD2	120010633	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	3.480000	0.53172	1.080000	0.41073	0.406000	0.27484	GAG		PASS	0.413	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		6	106	6	106	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140996143	140996143	+	Missense_Mutation	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:140996143G>C	ENST00000285879.4	+	4	3239	c.2953G>C	c.(2953-2955)Gag>Cag	p.E985Q	MAGEC1_ENST00000406005.2_Missense_Mutation_p.E52Q	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	985	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E985Q(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)					CCTCACCTCTGAGGGGTGTCT	0.478										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2953-2955)GAG>CAG		melanoma antigen family C, 1							111.0	105.0	107.0					X																	140996143		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140996143G>C	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.2953G>C	X.37:g.140996143G>C	ENSP00000285879:p.Glu985Gln	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Missense_Mutation_p.E52Q	p.E985Q	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3239	+	Acute lymphoblastic leukemia(192;6.56e-05)		985			MAGE.		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2953G>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	6.371	0.436647	0.12104	.	.	ENSG00000155495	ENST00000285879;ENST00000406005	T;T	0.04809	3.55;3.55	0.626	0.626	0.17670	.	.	.	.	.	T	0.11750	0.0286	M	0.63169	1.94	0.09310	N	1	P	0.43431	0.807	P	0.53518	0.728	T	0.12682	-1.0538	8	0.72032	D	0.01	.	.	.	.	.	985	O60732	MAGC1_HUMAN	Q	985;52	ENSP00000285879:E985Q;ENSP00000385500:E52Q	ENSP00000285879:E985Q	E	+	1	0	MAGEC1	140823809	0.002000	0.14202	0.013000	0.15412	0.012000	0.07955	0.506000	0.22658	0.564000	0.29238	0.279000	0.19357	GAG		PASS	0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		5	141	5	141	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140996154	140996154	+	Silent	SNP	G	G	C			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:140996154G>C	ENST00000285879.4	+	4	3250	c.2964G>C	c.(2962-2964)ctG>ctC	p.L988L	MAGEC1_ENST00000406005.2_Silent_p.L55L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	988	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L988L(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)					AGGGGTGTCTGAGTGATGAGC	0.473										HNSCC(15;0.026)																												uc004fbt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2962-2964)CTG>CTC		melanoma antigen family C, 1							109.0	101.0	104.0					X																	140996154		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140996154G>C	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.2964G>C	X.37:g.140996154G>C		HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Silent_p.L55L	p.L988L	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	3250	+	Acute lymphoblastic leukemia(192;6.56e-05)		988			MAGE.		A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.2964G>C	CCDS35417.1																																																																																				PASS	0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		4	135	4	135	---	---	---	---
MAGEA1	4100	broad.mit.edu	37	X	152483001	152483001	+	Missense_Mutation	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrX:152483001C>G	ENST00000356661.5	-	3	228	c.10G>C	c.(10-12)Gag>Cag	p.E4Q		NM_004988.4	NP_004979.3	P43355	MAGA1_HUMAN	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	4					negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone deacetylase binding (GO:0042826)	p.E4Q(1)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTGCTCAAGAGACATG	0.622																																						uc004fhf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(1)|lung(1)|breast(1)	10						c.(10-12)GAG>CAG		melanoma antigen family A, 1							49.0	54.0	52.0					X																	152483001		2203	4300	6503	SO:0001583	missense	4100					cytoplasm|plasma membrane		g.chrX:152483001C>G		CCDS76051.1	Xq28	2010-05-26			ENSG00000198681	ENSG00000198681			6796	protein-coding gene	gene with protein product	"""melanoma-associated antigen 1"", ""melanoma-associated antigen MZ2-E"", ""melanoma antigen MAGE-1"", ""melanoma antigen family A 1"", ""cancer/testis antigen family 1, member 1"""	300016		MAGE1		1840703	Standard	NM_004988		Approved	MGC9326, CT1.1	uc004fhf.2	P43355	OTTHUMG00000024192	ENST00000356661.5:c.10G>C	X.37:g.152483001C>G	ENSP00000349085:p.Glu4Gln						p.E4Q	NM_004988	NP_004979	P43355	MAGA1_HUMAN			3	230	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		4					B2RC81|O00346	Missense_Mutation	SNP	ENST00000356661.5	37	c.10G>C	CCDS14720.1	.	.	.	.	.	.	.	.	.	.	C	8.088	0.773970	0.16051	.	.	ENSG00000198681	ENST00000356661	T	0.04551	3.6	1.28	-2.55	0.06288	Melanoma associated antigen, MAGE, N-terminal (1);	3.765150	0.00706	N	0.000800	T	0.14399	0.0348	M	0.78049	2.395	0.09310	N	1	D	0.57257	0.979	P	0.58660	0.843	T	0.31110	-0.9955	10	0.66056	D	0.02	.	0.3946	0.00416	0.2397:0.3174:0.2383:0.2045	.	4	P43355	MAGA1_HUMAN	Q	4	ENSP00000349085:E4Q	ENSP00000349085:E4Q	E	-	1	0	MAGEA1	152136195	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.545000	0.00933	-1.488000	0.01847	0.190000	0.17370	GAG		PASS	0.622	MAGEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060940.1	NM_004988		3	63	3	63	---	---	---	---
KDM5D	8284	broad.mit.edu	37	Y	21868202	21868202	+	Silent	SNP	C	C	G			TCGA-39-5022-01A-21D-1817-08	TCGA-39-5022-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f60928ab-0cb1-4483-8d61-48a5333defbf	b9e3b052-5531-4156-ac06-d84a6e43924a	g.chrY:21868202C>G	ENST00000317961.4	-	27	4570	c.4299G>C	c.(4297-4299)cgG>cgC	p.R1433R	KDM5D_ENST00000541639.1_Silent_p.R1464R|KDM5D_ENST00000382806.2_Silent_p.R1376R	NM_004653.4	NP_004644.2	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	1433					histone H3-K4 demethylation (GO:0034720)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R1433R(1)		kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	GGCTCCTTGTCCGACTCCCTT	0.537																																						uc004fug.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(4297-4299)CGG>CGC		jumonji, AT rich interactive domain 1D isoform	Vitamin C(DB00126)																																			SO:0001819	synonymous_variant	8284				chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrY:21868202C>G	U52191	CCDS14794.1, CCDS55554.1, CCDS55555.1	Yq11	2013-01-28	2009-04-06	2009-04-06	ENSG00000012817	ENSG00000012817		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11115	protein-coding gene	gene with protein product		426000	"""Jumonji, AT rich interactive domain 1D (RBP2-like)"", ""Smcy homolog, Y-linked (mouse)"", ""jumonji, AT rich interactive domain 1D"""	HYA, HY, SMCY, JARID1D		795123, 8841177	Standard	NM_001146705		Approved	KIAA0234	uc011naz.2	Q9BY66	OTTHUMG00000036508	ENST00000317961.4:c.4299G>C	Y.37:g.21868202C>G						KDM5D_uc011naz.1_Silent_p.R1464R|KDM5D_uc010nwy.2_Silent_p.R1376R|KDM5D_uc004fuf.2_Silent_p.R608R	p.R1433R	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN			27	4587	-			1433					A2RU19|A6H8V7|B7ZLX1|Q92509|Q92809|Q9HCU1	Silent	SNP	ENST00000317961.4	37	c.4299G>C	CCDS14794.1																																																																																				PASS	0.537	KDM5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088790.1	NM_004653		2	4	2	4	---	---	---	---
