#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MAN1C1	57134	broad.mit.edu	37	1	25944551	25944551	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:25944551C>T	ENST00000374332.4	+	1	593	c.263C>T	c.(262-264)gCg>gTg	p.A88V	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	88					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		gcccccgccgcgccggccccg	0.786																																						uc001bkm.2		NA																	0				skin(1)	1						c.(262-264)GCG>GTG		mannosidase, alpha, class 1C, member 1							3.0	4.0	4.0					1																	25944551		1440	3074	4514	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944551C>T	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.263C>T	1.37:g.25944551C>T	ENSP00000363452:p.Ala88Val					MAN1C1_uc009vry.1_5'UTR	p.A88V	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	593	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	88			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.263C>T	CCDS265.1	.	.	.	.	.	.	.	.	.	.	c	0.008	-1.891061	0.00527	.	.	ENSG00000117643	ENST00000374332	D	0.82893	-1.66	3.74	0.565	0.17309	.	3.817800	0.01134	U	0.006049	T	0.64929	0.2643	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52815	-0.8525	10	0.18710	T	0.47	.	2.452	0.04520	0.1919:0.5111:0.1866:0.1105	.	88	Q9NR34	MA1C1_HUMAN	V	88	ENSP00000363452:A88V	ENSP00000363452:A88V	A	+	2	0	MAN1C1	25817138	0.128000	0.22383	0.001000	0.08648	0.047000	0.14425	0.282000	0.18829	0.013000	0.14918	-0.253000	0.11424	GCG		0.786	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		4	7	0	0	0	0	4	7				
ZCCHC11	23318	broad.mit.edu	37	1	52911973	52911973	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:52911973C>G	ENST00000371544.3	-	22	3917	c.3655G>C	c.(3655-3657)Gag>Cag	p.E1219Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E1219Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1219	PAP-associated 2.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CACTGCTTCTCAAAAGTTGTC	0.393																																						uc001ctx.2		NA																	0				ovary(2)|skin(1)	3						c.(3655-3657)GAG>CAG		zinc finger, CCHC domain containing 11 isoform							103.0	116.0	112.0					1																	52911973		2202	4300	6502	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52911973C>G	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3655G>C	1.37:g.52911973C>G	ENSP00000360599:p.Glu1219Gln					ZCCHC11_uc001cty.2_Missense_Mutation_p.E1219Q|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E1219Q|ZCCHC11_uc009vze.1_Missense_Mutation_p.E1219Q|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E940Q|ZCCHC11_uc001cua.1_Missense_Mutation_p.E136Q	p.E1219Q	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			22	3889	-			1219			PAP-associated 2.		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.3655G>C	CCDS30716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.86|16.86	3.238458|3.238458	0.58886|0.58886	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000531722;ENST00000528642|ENST00000474453	T;T;T;T|.	0.78481|.	-1.18;-1.18;-1.18;-1.18|.	5.46|5.46	5.46|5.46	0.80206|0.80206	PAP/25A-associated (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.69233|.	0.3088|.	L|L	0.45581|0.45581	1.43|1.43	0.80722|0.80722	D|D	1|1	D|.	0.59357|.	0.985|.	P|.	0.60415|.	0.874|.	T|.	0.64968|.	-0.6282|.	10|.	0.37606|.	T|.	0.19|.	.|.	19.2832|19.2832	0.94060|0.94060	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1219|.	Q5TAX3|.	TUT4_HUMAN|.	Q|S	1219;1219;61;1148|68	ENSP00000257177:E1219Q;ENSP00000360599:E1219Q;ENSP00000435700:E61Q;ENSP00000433486:E1148Q|.	ENSP00000257177:E1219Q|.	E|X	-|-	1|2	0|2	ZCCHC11|ZCCHC11	52684561|52684561	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.910000|0.910000	0.53928|0.53928	4.647000|4.647000	0.61418|0.61418	2.565000|2.565000	0.86533|0.86533	0.467000|0.467000	0.42956|0.42956	GAG|TGA		0.393	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		25	67	0	0	0	0	25	67				
LRRC42	115353	broad.mit.edu	37	1	54423865	54423865	+	Silent	SNP	C	C	A	rs578181272		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:54423865C>A	ENST00000371370.3	+	4	1038	c.517C>A	c.(517-519)Cgg>Agg	p.R173R	LRRC42_ENST00000319223.4_Silent_p.R173R	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	173										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						TAAGTCTTTCCGGGAGCTGAC	0.468																																						uc001cwj.1		NA																	0					0						c.(517-519)CGG>AGG		leucine rich repeat containing 42							132.0	115.0	121.0					1																	54423865		2203	4300	6503	SO:0001819	synonymous_variant	115353							g.chr1:54423865C>A	AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.517C>A	1.37:g.54423865C>A						LRRC42_uc001cwl.1_Silent_p.R173R|LRRC42_uc001cwk.1_Silent_p.R173R|LRRC42_uc009vzm.1_Silent_p.R173R	p.R173R	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN			3	717	+			173					D3DQ46|Q8N2Q8	Silent	SNP	ENST00000371370.3	37	c.517C>A	CCDS585.1																																																																																				0.468	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023250.1	NM_052940		8	53	1	0	0.000274275	0.000284182	8	53				
CLCA2	9635	broad.mit.edu	37	1	86919185	86919185	+	Silent	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:86919185G>T	ENST00000370565.4	+	13	2451	c.2289G>T	c.(2287-2289)gtG>gtT	p.V763V	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	763					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACCCTGATGTGTTTCCACCAT	0.517																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)	uc001dlr.3		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(2287-2289)GTG>GTT		chloride channel accessory 2 precursor							89.0	92.0	91.0					1																	86919185		2203	4300	6503	SO:0001819	synonymous_variant	9635				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity	g.chr1:86919185G>T		CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2289G>T	1.37:g.86919185G>T							p.V763V	NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN		all cancers(265;0.0233)|Epithelial(280;0.0452)	13	2451	+		Lung NSC(277;0.238)	763			Extracellular (Potential).		A8K2T3|Q9Y6N2	Silent	SNP	ENST00000370565.4	37	c.2289G>T	CCDS708.1																																																																																				0.517	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028284.1	NM_006536		22	61	1	0	1.11e-12	1.19e-12	22	61				
GBP1	2633	broad.mit.edu	37	1	89525943	89525944	+	Missense_Mutation	DNP	GT	GT	TG			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:89525943_89525944GT>TG	ENST00000370473.4	-	3	473_474	c.254_255AC>CA	c.(253-255)cAC>cCA	p.H85P		NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	85	GB1/RHD3-type G.|GTPase domain (Globular).				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)	cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		GCTTCTTGGGGTGGGGCACACA	0.564																																						uc001dmx.2		NA																	0				ovary(1)|skin(1)	2						c.(253-255)CAC>CCA		guanylate binding protein 1,																																				SO:0001583	missense	2633				interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	g.chr1:89525943_89525944GT>TG	BC002666	CCDS718.1	1p22.2	2011-03-09	2011-03-09		ENSG00000117228	ENSG00000117228			4182	protein-coding gene	gene with protein product		600411	"""guanylate binding protein 1, interferon-inducible, 67kDa"""			7518790	Standard	NM_002053		Approved		uc001dmx.2	P32455	OTTHUMG00000010614	ENST00000370473.4:c.254_255delinsTG	1.37:g.89525943_89525944delinsTG	ENSP00000359504:p.His85Pro						p.H85P	NM_002053	NP_002044	P32455	GBP1_HUMAN		all cancers(265;0.0156)|Epithelial(280;0.0291)	3	474_475	-		Lung NSC(277;0.123)	85					D3DT26|Q5T8M1	Missense_Mutation	DNP	ENST00000370473.4	37	c.254_255AC>CA	CCDS718.1																																																																																				0.564	GBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029289.3	NM_002053		11	93	0	0	0	0	11	93				
COPA	1314	broad.mit.edu	37	1	160303419	160303419	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:160303419C>T	ENST00000241704.7	-	5	589	c.360G>A	c.(358-360)tgG>tgA	p.W120*	COPA_ENST00000368069.3_Nonsense_Mutation_p.W120*	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	120					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTGCCAGTTCCACACTCGGA	0.413																																						uc009wti.2		NA																	0				ovary(1)|skin(1)	2						c.(358-360)TGG>TGA		coatomer protein complex, subunit alpha isoform							71.0	71.0	71.0					1																	160303419		2203	4300	6503	SO:0001587	stop_gained	1314				COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity	g.chr1:160303419C>T	U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.360G>A	1.37:g.160303419C>T	ENSP00000241704:p.Trp120*					COPA_uc001fvv.3_Nonsense_Mutation_p.W120*|COPA_uc009wtj.1_Nonsense_Mutation_p.W66*	p.W120*	NM_004371	NP_004362	P53621	COPA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	754	-	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		120			WD 3.		Q5T201|Q8IXZ9	Nonsense_Mutation	SNP	ENST00000241704.7	37	c.360G>A	CCDS1202.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957377	0.92726	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2401	17.2891	0.87150	0.0:1.0:0.0:0.0	.	.	.	.	X	120	.	ENSP00000241704:W120X	W	-	3	0	COPA	158570043	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.369000	0.79578	2.652000	0.90054	0.655000	0.94253	TGG		0.413	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080638.1	NM_004371		22	44	0	0	0	0	22	44				
F5	2153	broad.mit.edu	37	1	169525915	169525915	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:169525915G>A	ENST00000367797.3	-	6	1122	c.921C>T	c.(919-921)atC>atT	p.I307I	F5_ENST00000546081.1_Silent_p.I170I|F5_ENST00000367796.3_Silent_p.I307I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	307	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GAGAAGATATGATCCACTTTC	0.483																																						uc001ggg.1		NA																	0				ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(919-921)ATC>ATT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						160.0	142.0	148.0					1																	169525915		2203	4300	6503	SO:0001819	synonymous_variant	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169525915G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.921C>T	1.37:g.169525915G>A						F5_uc010plr.1_RNA	p.I307I	NM_000130	NP_000121	P12259	FA5_HUMAN			6	1066	-	all_hematologic(923;0.208)		307			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	37	c.921C>T	CCDS1281.1																																																																																				0.483	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		11	50	0	0	0	0	11	50				
MROH9	80133	broad.mit.edu	37	1	170959143	170959143	+	Splice_Site	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:170959143G>A	ENST00000367758.3	+	11	1126	c.1027G>A	c.(1027-1029)Gac>Aac	p.D343N	MROH9_ENST00000367759.4_Splice_Site_p.D343N	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	343																	TCCAGCAGACGAGTAAGGCCC	0.488																																						uc001ghg.2		NA																	0				pancreas(1)	1						c.(1027-1029)GAC>AAC		hypothetical protein LOC80133 isoform 2							70.0	68.0	69.0					1																	170959143		1924	4130	6054	SO:0001630	splice_region_variant	80133						binding	g.chr1:170959143G>A	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1028+1G>A	1.37:g.170959143G>A						C1orf129_uc009wvy.2_Missense_Mutation_p.D150N|C1orf129_uc010plz.1_Missense_Mutation_p.D343N	p.D343N	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			11	1157	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		343					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1027G>A	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.459472	0.01062	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.34072	4.17;1.38	5.18	0.187	0.15109	Armadillo-like helical (1);	1.114660	0.06570	N	0.748439	T	0.04227	0.0117	N	0.08118	0	0.22354	N	0.999175	B;B	0.18610	0.029;0.029	B;B	0.10450	0.005;0.005	T	0.34750	-0.9816	10	0.02654	T	1	-0.7667	7.7132	0.28690	0.6191:0.0:0.3809:0.0	.	343;343	F5GWX6;Q5TGP6	.;CA129_HUMAN	N	343	ENSP00000356733:D343N;ENSP00000356732:D343N	ENSP00000356732:D343N	D	+	1	0	C1orf129	169225767	0.216000	0.23585	0.612000	0.29024	0.027000	0.11550	-0.054000	0.11826	-0.233000	0.09797	-0.373000	0.07131	GAC		0.488	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	Missense_Mutation	6	22	0	0	0	0	6	22				
TOR3A	64222	broad.mit.edu	37	1	179063234	179063234	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:179063234C>T	ENST00000367627.3	+	5	1577	c.825C>T	c.(823-825)ctC>ctT	p.L275L	TOR3A_ENST00000352445.6_Silent_p.L275L	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	275					ATP catabolic process (GO:0006200)|chaperone mediated protein folding requiring cofactor (GO:0051085)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCAGTAATCTCAGGGGCGATA	0.463																																						uc001gmd.2		NA																	0				pancreas(1)	1						c.(823-825)CTC>CTT		torsin family 3, member A precursor							86.0	87.0	87.0					1																	179063234		2203	4300	6503	SO:0001819	synonymous_variant	64222				chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding	g.chr1:179063234C>T	BC001085	CCDS1329.1	1q25.2	2008-02-05	2003-04-02		ENSG00000186283	ENSG00000186283			11997	protein-coding gene	gene with protein product		607555	"""ATP-dependant interferon responsive"""	ADIR		10644435	Standard	NM_022371		Approved	FLJ22345, ADIR2	uc001gmd.3	Q9H497	OTTHUMG00000035077	ENST00000367627.3:c.825C>T	1.37:g.179063234C>T						TOR3A_uc010pnd.1_Silent_p.L59L	p.L275L	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN			5	977	+			275					B4DSY0|B7ZB65|Q5M7Y7|Q8WVA7|Q8WWM2|Q9H495|Q9H6E7	Silent	SNP	ENST00000367627.3	37	c.825C>T	CCDS1329.1																																																																																				0.463	TOR3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084927.1	NM_022371		17	71	0	0	0	0	17	71				
DHX9	1660	broad.mit.edu	37	1	182835672	182835672	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:182835672G>A	ENST00000367549.3	+	13	1536	c.1426G>A	c.(1426-1428)Gag>Aag	p.E476K		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	476	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CGTTCGATTTGAGTCTATACT	0.428																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NA																	0				ovary(2)	2						c.(1426-1428)GAG>AAG		DEAH (Asp-Glu-Ala-His) box polypeptide 9							197.0	191.0	193.0					1																	182835672		1864	4091	5955	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182835672G>A	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1426G>A	1.37:g.182835672G>A	ENSP00000356520:p.Glu476Lys					DHX9_uc001gps.2_Missense_Mutation_p.E262K	p.E476K	NM_001357	NP_001348	Q08211	DHX9_HUMAN			13	1589	+			476			Helicase ATP-binding.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.1426G>A	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	G	34	5.395145	0.96009	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.09538	2.97	5.12	5.12	0.69794	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.41534	0.1163	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.51284	-0.8725	10	0.87932	D	0	.	18.1559	0.89690	0.0:0.0:1.0:0.0	.	476	Q08211	DHX9_HUMAN	K	476	ENSP00000356520:E476K	ENSP00000356520:E476K	E	+	1	0	DHX9	181102295	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.014000	0.93635	2.372000	0.80975	0.467000	0.42956	GAG		0.428	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588		57	151	0	0	0	0	57	151				
B3GALNT2	148789	broad.mit.edu	37	1	235634193	235634193	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:235634193C>A	ENST00000366600.3	-	6	961	c.733G>T	c.(733-735)Gat>Tat	p.D245Y	B3GALNT2_ENST00000313984.3_Missense_Mutation_p.D286Y	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	245					protein glycosylation (GO:0006486)|protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|acetylglucosaminyltransferase activity (GO:0008375)|galactosyltransferase activity (GO:0008378)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			CCCCCTCCATCATTCACTGTC	0.358																																						uc001hxc.2		NA																	0				breast(1)	1						c.(733-735)GAT>TAT		beta-1,3-N-acetylgalactosaminyltransferase 2							142.0	139.0	140.0					1																	235634193		2203	4300	6503	SO:0001583	missense	148789				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr1:235634193C>A	BC029564	CCDS1606.1, CCDS60453.1	1q42.3	2013-02-19	2006-06-14		ENSG00000162885	ENSG00000162885		"""Beta 3-glycosyltransferases"""	28596	protein-coding gene	gene with protein product		610194	"""UDP-GalNAc:betaGlcNAc beta-1,3-galactosaminyltransferase, polypeptide 2"""			14724282	Standard	NM_001277155		Approved	MGC39558	uc001hxc.3	Q8NCR0	OTTHUMG00000040468	ENST00000366600.3:c.733G>T	1.37:g.235634193C>A	ENSP00000355559:p.Asp245Tyr					B3GALNT2_uc001hxd.1_Missense_Mutation_p.D286Y	p.D245Y	NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000117)		6	962	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	245			Lumenal (Potential).		Q59GR3|Q5TCI3|Q96AL7	Missense_Mutation	SNP	ENST00000366600.3	37	c.733G>T	CCDS1606.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254500	0.80135	.	.	ENSG00000162885	ENST00000366599;ENST00000366600;ENST00000313984	T;T	0.62639	0.01;0.96	5.33	5.33	0.75918	.	0.044642	0.85682	D	0.000000	T	0.71634	0.3363	L	0.29908	0.895	0.49798	D	0.999826	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.969	T	0.74731	-0.3566	10	0.87932	D	0	-30.1349	18.9751	0.92733	0.0:1.0:0.0:0.0	.	286;245	Q8NCR0-2;Q8NCR0	.;B3GL2_HUMAN	Y	286;245;286	ENSP00000355559:D245Y;ENSP00000315678:D286Y	ENSP00000315678:D286Y	D	-	1	0	B3GALNT2	233700816	1.000000	0.71417	0.993000	0.49108	0.957000	0.61999	2.952000	0.49097	2.665000	0.90641	0.591000	0.81541	GAT		0.358	B3GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097376.1	NM_152490		29	74	1	0	2.46e-21	2.67e-21	29	74				
SCCPDH	51097	broad.mit.edu	37	1	246927581	246927581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:246927581G>A	ENST00000366510.3	+	10	1400	c.1024G>A	c.(1024-1026)Ggt>Agt	p.G342S		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	342						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GACATTCTTTGGTCAAGGATA	0.408																																						uc001ibr.2		NA																	0				ovary(1)	1						c.(1024-1026)GGT>AGT		saccharopine dehydrogenase (putative)							131.0	122.0	125.0					1																	246927581		2203	4300	6503	SO:0001583	missense	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246927581G>A		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.1024G>A	1.37:g.246927581G>A	ENSP00000355467:p.Gly342Ser						p.G342S	NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	10	1371	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	342					Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	c.1024G>A	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988491	0.93106	.	.	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.43294	0.95	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71685	0.3369	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73522	-0.3956	10	0.56958	D	0.05	.	20.177	0.98182	0.0:0.0:1.0:0.0	.	342	Q8NBX0	SCPDL_HUMAN	S	342;154	ENSP00000355467:G342S	ENSP00000355466:G154S	G	+	1	0	SCCPDH	244994204	1.000000	0.71417	1.000000	0.80357	0.559000	0.35586	8.611000	0.90905	2.854000	0.98071	0.655000	0.94253	GGT		0.408	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002		22	64	0	0	0	0	22	64				
OR11L1	391189	broad.mit.edu	37	1	248005106	248005106	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:248005106G>T	ENST00000355784.2	-	1	148	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	31						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGATGAGCAGGAAAATGACAA	0.507																																						uc001idn.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(91-93)TTC>TTA		olfactory receptor, family 11, subfamily L,							67.0	59.0	62.0					1																	248005106		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248005106G>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.93C>A	1.37:g.248005106G>T	ENSP00000348033:p.Phe31Leu						p.F31L	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	93	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		31			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.93C>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	G	9.454	1.091219	0.20471	.	.	ENSG00000197591	ENST00000355784	T	0.04454	3.62	4.2	0.168	0.15012	.	0.000000	0.38272	U	0.001759	T	0.04861	0.0131	M	0.63428	1.95	0.21220	N	0.99975	P	0.41041	0.736	B	0.35312	0.2	T	0.30851	-0.9964	10	0.54805	T	0.06	.	5.767	0.18231	0.4043:0.131:0.4647:0.0	.	31	Q8NGX0	O11L1_HUMAN	L	31	ENSP00000348033:F31L	ENSP00000348033:F31L	F	-	3	2	OR11L1	246071729	0.079000	0.21365	0.025000	0.17156	0.348000	0.29142	-0.658000	0.05329	-0.053000	0.13289	-0.324000	0.08512	TTC		0.507	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1	NM_001001959		11	36	1	0	5.51e-06	5.77e-06	11	36				
PGBD2	267002	broad.mit.edu	37	1	249211968	249211968	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:249211968G>T	ENST00000329291.5	+	3	1332	c.1185G>T	c.(1183-1185)agG>agT	p.R395S	PGBD2_ENST00000539153.1_Missense_Mutation_p.R392S|PGBD2_ENST00000355360.4_Missense_Mutation_p.R144S	NM_170725.2	NP_733843.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	395										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AAATGAAGAGGGGTTCATTTG	0.478																																						uc001ifh.2		NA																	0				ovary(1)	1						c.(1183-1185)AGG>AGT		hypothetical protein LOC267002 isoform a							67.0	70.0	69.0					1																	249211968		2203	4300	6503	SO:0001583	missense	267002							g.chr1:249211968G>T	AF229602	CCDS31128.1, CCDS31129.1	1q	2008-02-05			ENSG00000185220	ENSG00000185220			19399	protein-coding gene	gene with protein product							Standard	XM_005270333		Approved		uc001ifh.3	Q6P3X8	OTTHUMG00000040424	ENST00000329291.5:c.1185G>T	1.37:g.249211968G>T	ENSP00000331643:p.Arg395Ser					PGBD2_uc001ifg.2_Missense_Mutation_p.R144S|PGBD2_uc009xhd.2_Missense_Mutation_p.R392S	p.R395S	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		3	1332	+	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	395					B3KVR8|Q6MZF8	Missense_Mutation	SNP	ENST00000329291.5	37	c.1185G>T	CCDS31128.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.611318	0.28712	.	.	ENSG00000185220	ENST00000355360;ENST00000329291;ENST00000539153	T;T;T	0.18810	2.19;2.19;2.19	3.78	-1.45	0.08828	.	0.208574	0.28109	N	0.016562	T	0.21801	0.0525	M	0.68952	2.095	0.09310	N	1	P;P	0.44044	0.825;0.722	P;B	0.46585	0.521;0.341	T	0.23868	-1.0176	10	0.18710	T	0.47	-21.8503	7.2619	0.26207	0.5703:0.0:0.4297:0.0	.	392;395	F5H4U7;Q6P3X8	.;PGBD2_HUMAN	S	144;395;392	ENSP00000355424:R144S;ENSP00000331643:R395S;ENSP00000439950:R392S	ENSP00000331643:R395S	R	+	3	2	PGBD2	247178591	0.996000	0.38824	0.220000	0.23810	0.928000	0.56348	0.041000	0.13927	-0.160000	0.11002	-0.373000	0.07131	AGG		0.478	PGBD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000097318.1			21	49	1	0	4.35e-09	4.63e-09	21	49				
KLF6	1316	broad.mit.edu	37	10	3822362	3822362	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:3822362C>G	ENST00000497571.1	-	3	996	c.736G>C	c.(736-738)Gag>Cag	p.E246Q	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Intron	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	246					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGGTTAACTCATCACTTCTT	0.542																																						uc001iha.2		NA																	0				central_nervous_system(3)|lung(1)	4						c.(736-738)GAG>CAG		Kruppel-like factor 6 isoform A							222.0	168.0	186.0					10																	3822362		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3822362C>G	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.736G>C	10.37:g.3822362C>G	ENSP00000419923:p.Glu246Gln					KLF6_uc010qaj.1_Intron|KLF6_uc010qak.1_RNA|KLF6_uc010qal.1_Missense_Mutation_p.E204Q	p.E246Q	NM_001300	NP_001291	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	3	1003	-			246			C2H2-type 2.		B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.736G>C	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443937	0.96187	.	.	ENSG00000067082	ENST00000497571	T	0.51817	0.69	5.67	5.67	0.87782	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.053414	0.85682	D	0.000000	T	0.58864	0.2152	L	0.28192	0.835	0.80722	D	1	D;D	0.76494	0.991;0.999	D;D	0.75484	0.986;0.98	T	0.62196	-0.6905	10	0.87932	D	0	.	18.7705	0.91890	0.0:1.0:0.0:0.0	.	204;246	D3GC14;Q99612	.;KLF6_HUMAN	Q	246	ENSP00000419923:E246Q	ENSP00000419923:E246Q	E	-	1	0	KLF6	3812362	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.702000	0.84576	2.677000	0.91161	0.561000	0.74099	GAG		0.542	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			24	80	0	0	0	0	24	80				
SVIL	6840	broad.mit.edu	37	10	29821993	29821993	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:29821993C>T	ENST00000355867.4	-	8	2055	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.E435K	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	435					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tcttctccttctccttcccct	0.507																																						uc001iut.1		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1303-1305)GAA>AAA		supervillin isoform 2							57.0	50.0	52.0					10																	29821993		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29821993C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.1303G>A	10.37:g.29821993C>T	ENSP00000348128:p.Glu435Lys					SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.E435K	p.E435K	NM_021738	NP_068506	O95425	SVIL_HUMAN			8	2056	-		Breast(68;0.103)	435					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.1303G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	4.683	0.126930	0.08931	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.12879	2.64;2.64	0.235	0.235	0.15431	.	.	.	.	.	T	0.07503	0.0189	N	0.22421	0.69	0.09310	N	1	B	0.20261	0.043	B	0.12156	0.007	T	0.40421	-0.9564	8	.	.	.	.	4.9325	0.13925	0.0:0.7782:0.0:0.2218	.	435	O95425	SVIL_HUMAN	K	435	ENSP00000364547:E435K;ENSP00000348128:E435K	.	E	-	1	0	SVIL	29861999	0.003000	0.15002	0.001000	0.08648	0.001000	0.01503	-0.420000	0.07062	0.308000	0.22923	0.313000	0.20887	GAA		0.507	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			23	22	0	0	0	0	23	22				
FZD8	8325	broad.mit.edu	37	10	35929479	35929479	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:35929479G>A	ENST00000374694.1	-	1	883	c.879C>T	c.(877-879)ttC>ttT	p.F293F	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	293					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGACGGTGGCGAAGGTGGACA	0.622																																						uc001iyz.1		NA																	0					0						c.(877-879)TTC>TTT		frizzled 8 precursor							47.0	44.0	45.0					10																	35929479		2203	4300	6503	SO:0001819	synonymous_variant	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35929479G>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.879C>T	10.37:g.35929479G>A							p.F293F	NM_031866	NP_114072	Q9H461	FZD8_HUMAN			1	884	-			293			Helical; Name=1; (Potential).			Silent	SNP	ENST00000374694.1	37	c.879C>T	CCDS7192.1																																																																																				0.622	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		19	26	0	0	0	0	19	26				
PAX2	5076	broad.mit.edu	37	10	102510539	102510539	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:102510539G>T	ENST00000428433.1	+	3	851	c.301G>T	c.(301-303)Gaa>Taa	p.E101*	PAX2_ENST00000556085.1_Nonsense_Mutation_p.E100*|PAX2_ENST00000370296.2_Nonsense_Mutation_p.E101*|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000361791.3_Nonsense_Mutation_p.E101*|PAX2_ENST00000355243.3_Nonsense_Mutation_p.E101*	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	101	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|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 (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CAAGATTGCTGAATACAAACG	0.587																																						uc001krk.3		NA																	0					0						c.(301-303)GAA>TAA		paired box protein 2 isoform e							121.0	119.0	120.0					10																	102510539		2203	4300	6503	SO:0001587	stop_gained	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102510539G>T		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.301G>T	10.37:g.102510539G>T	ENSP00000396259:p.Glu101*					PAX2_uc001krl.3_Nonsense_Mutation_p.E101*|PAX2_uc001krm.3_Nonsense_Mutation_p.E101*|PAX2_uc001kro.3_Nonsense_Mutation_p.E101*|PAX2_uc001krn.3_Nonsense_Mutation_p.E101*|PAX2_uc010qps.1_Nonsense_Mutation_p.E100*|PAX2_uc001krp.1_Nonsense_Mutation_p.E105*	p.E101*	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	3	851	+		Colorectal(252;0.234)	101			Paired.		Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Nonsense_Mutation	SNP	ENST00000428433.1	37	c.301G>T	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	G	42	9.536242	0.99198	.	.	ENSG00000075891	ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000427256;ENST00000554172	.	.	.	5.93	5.93	0.95920	.	0.053629	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	.	.	.	X	101;101;101;101;100;101;105	.	ENSP00000347385:E101X	E	+	1	0	PAX2	102500529	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.778000	0.75043	2.815000	0.96918	0.561000	0.74099	GAA		0.587	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				32	35	1	0	1.56e-22	1.71e-22	32	35				
SFXN4	119559	broad.mit.edu	37	10	120917539	120917539	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:120917539C>A	ENST00000355697.2	-	7	415	c.396G>T	c.(394-396)aaG>aaT	p.K132N	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.K123N	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	132					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		AAATCACGGACTTGATCCCTT	0.428																																						uc001leb.2		NA																	0				ovary(1)	1						c.(394-396)AAG>AAT		sideroflexin 4							147.0	145.0	146.0					10																	120917539		2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120917539C>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.396G>T	10.37:g.120917539C>A	ENSP00000347924:p.Lys132Asn					SFXN4_uc001ldy.2_Missense_Mutation_p.K16N|SFXN4_uc001ldz.2_Missense_Mutation_p.K16N|SFXN4_uc001lea.2_RNA	p.K132N	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	7	441	-		Lung NSC(174;0.094)|all_lung(145;0.123)	132					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.396G>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457735	0.43634	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131;ENST00000419372	T;T;T	0.29655	1.56;1.56;1.56	4.64	2.79	0.32731	.	0.058948	0.64402	D	0.000004	T	0.46268	0.1384	M	0.72894	2.215	0.23440	N	0.997673	D	0.71674	0.998	D	0.65684	0.937	T	0.22034	-1.0228	10	0.40728	T	0.16	-12.3029	7.1044	0.25356	0.0:0.796:0.0:0.204	.	132	Q6P4A7	SFXN4_HUMAN	N	132;123;15;16;16	ENSP00000347924:K132N;ENSP00000333200:K123N;ENSP00000358127:K16N	ENSP00000333200:K123N	K	-	3	2	SFXN4	120907529	1.000000	0.71417	0.095000	0.20976	0.001000	0.01503	0.992000	0.29667	0.685000	0.31468	-0.142000	0.14014	AAG		0.428	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		8	52	1	0	5.49e-09	5.82e-09	8	52				
SFXN4	119559	broad.mit.edu	37	10	120917544	120917544	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:120917544T>A	ENST00000355697.2	-	7	410	c.391A>T	c.(391-393)Atc>Ttc	p.I131F	SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Missense_Mutation_p.I122F	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	131					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		ACGGACTTGATCCCTTTCAGT	0.418																																						uc001leb.2		NA																	0				ovary(1)	1						c.(391-393)ATC>TTC		sideroflexin 4							147.0	145.0	146.0					10																	120917544		2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120917544T>A		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.391A>T	10.37:g.120917544T>A	ENSP00000347924:p.Ile131Phe					SFXN4_uc001ldy.2_Missense_Mutation_p.I15F|SFXN4_uc001ldz.2_Missense_Mutation_p.I15F|SFXN4_uc001lea.2_RNA	p.I131F	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	7	436	-		Lung NSC(174;0.094)|all_lung(145;0.123)	131			Helical; (Potential).		Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.391A>T	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.221375	0.39300	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131;ENST00000419372	T;T;T	0.30714	1.52;1.52;1.52	4.64	-0.521	0.11931	.	0.512144	0.15914	N	0.238446	T	0.28732	0.0712	L	0.50333	1.59	0.09310	N	1	D	0.53151	0.958	P	0.50970	0.655	T	0.27739	-1.0065	10	0.08599	T	0.76	-1.8168	7.7525	0.28904	0.1234:0.0:0.6193:0.2573	.	131	Q6P4A7	SFXN4_HUMAN	F	131;122;14;15;15	ENSP00000347924:I131F;ENSP00000333200:I122F;ENSP00000358127:I15F	ENSP00000333200:I122F	I	-	1	0	SFXN4	120907534	0.013000	0.17824	0.000000	0.03702	0.005000	0.04900	0.350000	0.20079	-0.155000	0.11098	0.528000	0.53228	ATC		0.418	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		8	48	0	0	0	0	8	48				
OR52A4	390053	broad.mit.edu	37	11	5142643	5142643	+	RNA	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:5142643C>T	ENST00000498233.1	-	0	755							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCTTGGCTCAGATTTGATG	0.428																																						uc001lzz.1		NA																	0				ovary(2)	2						c.(166-168)GAG>AAG		olfactory receptor, family 52, subfamily A,							81.0	81.0	81.0					11																	5142643		2201	4298	6499			390053							g.chr11:5142643C>T			11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142643C>T						OR52A4_uc001maa.2_RNA	p.E56K	NM_001005222	NP_001005222				Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)	1	166	-		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)							Missense_Mutation	SNP	ENST00000498233.1	37	c.166G>A		.	.	.	.	.	.	.	.	.	.	C	4.670	0.124481	0.08931	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72301	0.3443	.	.	.	0.22940	N	0.998536	D	0.76494	0.999	D	0.76071	0.987	T	0.80016	-0.1559	6	0.87932	D	0	.	9.2061	0.37289	0.0:0.8973:0.0:0.1027	.	56	A6NMU1	O52A4_HUMAN	K	56	.	ENSP00000369727:E56K	E	-	1	0	OR52A4	5099219	0.082000	0.21442	0.428000	0.26697	0.228000	0.25075	0.611000	0.24268	2.256000	0.74724	0.650000	0.86243	GAG		0.428	OR52A4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000268565.1	NG_029079		20	48	0	0	0	0	20	48				
HBE1	3046	broad.mit.edu	37	11	5290881	5290881	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:5290881G>T	ENST00000380237.1	-	4	462	c.118C>A	c.(118-120)Cag>Aag	p.Q40K	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.Q40K|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	40					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAATCTCTGGGTCCAGGGG	0.463																																						uc001mal.1		NA																	0					0						c.(118-120)CAG>AAG		epsilon globin							64.0	65.0	65.0					11																	5290881		2201	4297	6498	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5290881G>T	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.118C>A	11.37:g.5290881G>T	ENSP00000369586:p.Gln40Lys					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.Q40K	p.Q40K	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	371	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	40					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.118C>A	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509337	0.85282	.	.	ENSG00000213931	ENST00000380237;ENST00000292896;ENST00000396895	D;D;D	0.92699	-3.09;-3.09;-2.9	6.02	6.02	0.97574	Globin-like (1);Globin, structural domain (1);	0.000000	0.85682	U	0.000000	D	0.90728	0.7090	N	0.26092	0.79	0.54753	D	0.999984	P	0.45569	0.861	P	0.48227	0.571	D	0.91522	0.5235	10	0.87932	D	0	-12.4231	19.1686	0.93567	0.0:0.0:1.0:0.0	.	40	P02100	HBE_HUMAN	K	40	ENSP00000369586:Q40K;ENSP00000292896:Q40K;ENSP00000380104:Q40K	ENSP00000292896:Q40K	Q	-	1	0	HBE1	5247457	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.119000	0.57891	2.875000	0.98604	0.644000	0.83932	CAG		0.463	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		17	41	1	0	4.75e-09	5.05e-09	17	41				
CYB5R2	51700	broad.mit.edu	37	11	7689018	7689018	+	Missense_Mutation	SNP	G	G	A	rs149733078		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:7689018G>A	ENST00000533558.1	-	7	1055	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	CYB5R2_ENST00000528585.1_5'UTR|CYB5R2_ENST00000299498.6_Missense_Mutation_p.R167C|CYB5R2_ENST00000524790.1_Missense_Mutation_p.R167C|CYB5R2_ENST00000299497.9_Missense_Mutation_p.R167C			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	167					oxidation-reduction process (GO:0055114)|sterol biosynthetic process (GO:0016126)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGATGTGGCGAATGAGCTGC	0.552																																						uc001mfm.2		NA																	0					0						c.(499-501)CGC>TGC		cytochrome b5 reductase b5R.2		G	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	313.0	247.0	270.0		499	5.9	1.0	11	dbSNP_134	270	0,8592		0,0,4296	no	missense	CYB5R2	NM_016229.3	180	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	167/277	7689018	1,12993	2201	4296	6497	SO:0001583	missense	51700				sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity	g.chr11:7689018G>A	AF169802	CCDS7780.1	11p15.4	2014-08-12			ENSG00000166394	ENSG00000166394	1.6.2.2		24376	protein-coding gene	gene with protein product		608342				10611283	Standard	XM_005252973		Approved		uc001mfm.3	Q6BCY4	OTTHUMG00000165665	ENST00000533558.1:c.499C>T	11.37:g.7689018G>A	ENSP00000437041:p.Arg167Cys					CYB5R2_uc001mfn.2_RNA|CYB5R2_uc009yfk.2_Missense_Mutation_p.R167C	p.R167C	NM_016229	NP_057313	Q6BCY4	NB5R2_HUMAN		Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	7	737	-			167			FAD (By similarity).		Q9BVA3|Q9UF68|Q9UHJ0	Missense_Mutation	SNP	ENST00000533558.1	37	c.499C>T	CCDS7780.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.851452	0.91355	2.27E-4	0.0	ENSG00000166394	ENST00000524790;ENST00000299498;ENST00000533558;ENST00000299497;ENST00000531096	D;D;D;D;D	0.95554	-2.3;-2.3;-2.3;-2.3;-3.74	5.91	5.91	0.95273	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.85682	D	0.000000	D	0.98764	0.9584	H	0.98351	4.21	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.99449	1.0940	10	0.87932	D	0	-13.5965	17.7923	0.88558	0.0:0.0:1.0:0.0	.	167	Q6BCY4	NB5R2_HUMAN	C	167	ENSP00000435916:R167C;ENSP00000299498:R167C;ENSP00000437041:R167C;ENSP00000299497:R167C;ENSP00000434969:R167C	ENSP00000299497:R167C	R	-	1	0	CYB5R2	7645594	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.401000	0.79962	2.793000	0.96121	0.655000	0.94253	CGC		0.552	CYB5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385679.1	NM_016229		19	68	0	0	0	0	19	68				
CD44	960	broad.mit.edu	37	11	35223298	35223298	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:35223298C>T	ENST00000428726.2	+	9	1240	c.1117C>T	c.(1117-1119)Cat>Tat	p.H373Y	CD44_ENST00000449691.2_Missense_Mutation_p.H373Y|CD44_ENST00000352818.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.H374Y|CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.H330Y|CD44_ENST00000437706.2_Missense_Mutation_p.H373Y|CD44_ENST00000433892.2_Intron|CD44_ENST00000434472.2_Intron|CD44_ENST00000263398.6_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	373	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	CCATGAGCATCATGAGGAAGA	0.463																																						uc001mvu.2		NA																	0				pancreas(1)	1						c.(1117-1119)CAT>TAT		CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)						154.0	129.0	137.0					11																	35223298		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35223298C>T	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1117C>T	11.37:g.35223298C>T	ENSP00000398632:p.His373Tyr					CD44_uc001mvv.2_Missense_Mutation_p.H330Y|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	p.H373Y	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		9	1551	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	373			Extracellular (Potential).|Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.1117C>T	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.705|6.705	0.498779|0.498779	0.12762|0.12762	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000528672|ENST00000528455;ENST00000524922	T;T;T;T;T;T|.	0.20463|.	2.97;2.95;2.07;2.95;2.98;2.16|.	5.4|5.4	3.43|3.43	0.39272|0.39272	.|.	0.825161|.	0.10900|.	N|.	0.621763|.	T|T	0.43322|0.43322	0.1242|0.1242	L|L	0.60455|0.60455	1.87|1.87	0.09310|0.09310	N|N	0.999998|0.999998	P;P|.	0.38863|.	0.65;0.518|.	B;B|.	0.37888|.	0.26;0.133|.	T|T	0.31668|0.31668	-0.9935|-0.9935	10|5	0.54805|.	T|.	0.06|.	-13.5181|-13.5181	6.132|6.132	0.20211|0.20211	0.1843:0.7219:0.0:0.0938|0.1843:0.7219:0.0:0.0938	.|.	330;373|.	P16070-4;P16070|.	.;CD44_HUMAN|.	Y|L	330;374;373;373;373;25|224;117	ENSP00000389830:H330Y;ENSP00000414567:H374Y;ENSP00000391008:H373Y;ENSP00000403990:H373Y;ENSP00000398632:H373Y;ENSP00000431860:H25Y|.	ENSP00000389830:H330Y|.	H|S	+|+	1|2	0|0	CD44|CD44	35179874|35179874	0.003000|0.003000	0.15002|0.15002	0.138000|0.138000	0.22173|0.22173	0.001000|0.001000	0.01503|0.01503	0.131000|0.131000	0.15870|0.15870	1.295000|1.295000	0.44724|0.44724	-0.258000|-0.258000	0.10820|0.10820	CAT|TCA		0.463	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		4	31	0	0	0	0	4	31				
OR5D16	390144	broad.mit.edu	37	11	55606668	55606668	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:55606668G>A	ENST00000378396.1	+	1	441	c.441G>A	c.(439-441)gtG>gtA	p.V147V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCATGCTGGTGGTTGTATTGT	0.448																																						uc010rio.1		NA																	0				ovary(4)|skin(1)	5						c.(439-441)GTG>GTA		olfactory receptor, family 5, subfamily D,							130.0	117.0	121.0					11																	55606668		2201	4296	6497	SO:0001819	synonymous_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606668G>A	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.441G>A	11.37:g.55606668G>A							p.V147V	NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN			1	441	+		all_epithelial(135;0.208)	147			Helical; Name=4; (Potential).		Q6IF65|Q96RB4	Silent	SNP	ENST00000378396.1	37	c.441G>A	CCDS31512.1																																																																																				0.448	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		20	54	0	0	0	0	20	54				
ENDOD1	23052	broad.mit.edu	37	11	94861543	94861543	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:94861543C>T	ENST00000278505.4	+	2	421	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	101						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCTTGCAGATCGATGACCCCA	0.517																																						uc001pfh.2		NA																	0					0						c.(301-303)ATC>ATT		endonuclease domain containing 1 precursor							61.0	59.0	59.0					11																	94861543		2032	4190	6222	SO:0001819	synonymous_variant	23052					extracellular region	endonuclease activity|metal ion binding|nucleic acid binding	g.chr11:94861543C>T	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.303C>T	11.37:g.94861543C>T							p.I101I	NM_015036	NP_055851	O94919	ENDD1_HUMAN			2	378	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	101					A8K6K8|Q6GQY5|Q8TAQ8	Silent	SNP	ENST00000278505.4	37	c.303C>T	CCDS41699.1																																																																																				0.517	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	NM_015036		5	20	0	0	0	0	5	20				
MMP8	4317	broad.mit.edu	37	11	102593222	102593222	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr11:102593222G>A	ENST00000236826.3	-	2	383	c.285C>T	c.(283-285)gaC>gaT	p.D95D		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	95					collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|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)|metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	Marimastat(DB00786)	AACCACCACTGTCAGGCACTC	0.458																																						uc001phe.2		NA																	0				ovary(3)|breast(1)	4						c.(283-285)GAC>GAT		matrix metalloproteinase 8 preproprotein							135.0	127.0	130.0					11																	102593222		2203	4299	6502	SO:0001819	synonymous_variant	4317				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding	g.chr11:102593222G>A	J05556	CCDS8320.1	11q21-q22	2008-02-05	2005-08-08		ENSG00000118113	ENSG00000118113	3.4.24.34		7175	protein-coding gene	gene with protein product		120355	"""matrix metalloproteinase 8 (neutrophil collagenase)"""	CLG1			Standard	NM_002424		Approved		uc001phe.2	P22894	OTTHUMG00000167587	ENST00000236826.3:c.285C>T	11.37:g.102593222G>A						MMP8_uc010rut.1_Silent_p.D30D|MMP8_uc010ruu.1_Silent_p.D72D	p.D95D	NM_002424	NP_002415	P22894	MMP8_HUMAN	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)	2	384	-	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	95			Cysteine switch (By similarity).		Q45F99	Silent	SNP	ENST00000236826.3	37	c.285C>T	CCDS8320.1	.	.	.	.	.	.	.	.	.	.	G	5.251	0.231743	0.09969	.	.	ENSG00000118113	ENST00000438475	.	.	.	5.73	-1.13	0.09775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.8611	0.57913	0.5822:0.0:0.4178:0.0	.	.	.	.	X	71	.	.	Q	-	1	0	MMP8	102098432	0.000000	0.05858	0.002000	0.10522	0.094000	0.18550	-1.091000	0.03369	-0.375000	0.07955	0.655000	0.94253	CAG		0.458	MMP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395223.1	NM_002424		26	21	0	0	0	0	26	21				
C3AR1	719	broad.mit.edu	37	12	8212581	8212581	+	Silent	SNP	C	C	T	rs374090282		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:8212581C>T	ENST00000307637.4	-	2	404	c.201G>A	c.(199-201)gcG>gcA	p.A67A		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	67					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGAGGAGGTCCGCCAAGGTGA	0.592																																						uc001qtv.1		NA																	0				ovary(1)	1						c.(199-201)GCG>GCA		complement component 3a receptor 1		C		0,4406		0,0,2203	110.0	89.0	96.0		201	-11.4	0.4	12		96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C3AR1	NM_004054.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		67/483	8212581	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212581C>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.201G>A	12.37:g.8212581C>T							p.A67A	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	293	-			67			Helical; Name=2; (Potential).		O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.201G>A	CCDS8588.1																																																																																				0.592	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			8	65	0	0	0	0	8	65				
AICDA	57379	broad.mit.edu	37	12	8758041	8758041	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:8758041G>A	ENST00000229335.6	-	3	300	c.197C>T	c.(196-198)tCg>tTg	p.S66L	AICDA_ENST00000537228.1_Missense_Mutation_p.S66L	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	66					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCCCAGTCCGAGATGTAGCG	0.587																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2		NA																	0				ovary(1)|pancreas(1)	2						c.(196-198)TCG>TTG		activation-induced cytidine deaminase							53.0	57.0	56.0					12																	8758041		2069	4229	6298	SO:0001583	missense	57379	Immune_Deficiency_with_Hyper-IgM			B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8758041G>A	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.197C>T	12.37:g.8758041G>A	ENSP00000229335:p.Ser66Leu					AICDA_uc001qup.1_Missense_Mutation_p.S61L|AICDA_uc001quq.1_Missense_Mutation_p.S61L|AICDA_uc009zgd.1_Intron	p.S66L	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			3	276	-	Lung SC(5;0.184)		66					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.197C>T	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.35|17.35	3.367395|3.367395	0.61513|0.61513	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000543081;ENST00000545512|ENST00000229335;ENST00000537228	.|T;T	.|0.64618	.|-0.11;-0.11	5.43|5.43	5.43|5.43	0.79202|0.79202	.|APOBEC-like, N-terminal (1);APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);	.|0.159596	.|0.56097	.|D	.|0.000026	T|T	0.43100|0.43100	0.1232|0.1232	N|N	0.16368|0.16368	0.405|0.405	0.58432|0.58432	D|D	0.999998|0.999998	.|P;P;P	.|0.39520	.|0.529;0.676;0.529	.|B;B;B	.|0.28638	.|0.063;0.063;0.092	T|T	0.41945|0.41945	-0.9480|-0.9480	5|10	.|0.27082	.|T	.|0.32	-33.7651|-33.7651	17.8201|17.8201	0.88648|0.88648	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|66;66;66	.|Q9GZX7;Q6QJ80;Q6QJ81	.|AICDA_HUMAN;.;.	W|L	65|66	.|ENSP00000229335:S66L;ENSP00000445691:S66L	.|ENSP00000229335:S66L	R|S	-|-	1|2	2|0	AICDA|AICDA	8649308|8649308	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.901000|0.901000	0.52897|0.52897	6.736000|6.736000	0.74811|0.74811	2.545000|2.545000	0.85829|0.85829	0.462000|0.462000	0.41574|0.41574	CGG|TCG		0.587	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661		17	126	0	0	0	0	17	126				
PRB2	653247	broad.mit.edu	37	12	11546807	11546807	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:11546807G>C	ENST00000389362.4	-	3	240	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E	PRB2_ENST00000545829.1_5'Flank|PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	69	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)				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)			GGGGGACCTTGAGGCTGGTTG	0.607																																						uc010shk.1		NA																	0					0						c.(205-207)CAA>GAA		proline-rich protein BstNI subfamily 2							125.0	141.0	136.0					12																	11546807		2164	4250	6414	SO:0001583	missense	653247							g.chr12:11546807G>C	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.205C>G	12.37:g.11546807G>C	ENSP00000374013:p.Gln69Glu						p.Q69E	NM_006248	NP_006239			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	240	-		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.205C>G	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	7.613	0.675282	0.14841	.	.	ENSG00000121335	ENST00000389362	T	0.04502	3.61	2.0	0.0115	0.14087	.	27.867600	0.00718	U	0.000874	T	0.04770	0.0129	L	0.53249	1.67	0.09310	N	1	P	0.41041	0.736	B	0.22152	0.038	T	0.46775	-0.9167	10	0.27082	T	0.32	.	6.5572	0.22466	0.0:0.0:0.3488:0.6512	.	69	P02812	PRB2_HUMAN	E	69	ENSP00000374013:Q69E	ENSP00000374013:Q69E	Q	-	1	0	PRB2	11438074	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.413000	0.07123	0.121000	0.18284	0.418000	0.28097	CAA		0.607	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		67	485	0	0	0	0	67	485				
PTPRO	5800	broad.mit.edu	37	12	15742398	15742398	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:15742398G>A	ENST00000281171.4	+	25	3750	c.3420G>A	c.(3418-3420)gtG>gtA	p.V1140V	PTPRO_ENST00000348962.2_Silent_p.V1112V|PTPRO_ENST00000442921.2_Silent_p.V329V|PTPRO_ENST00000542557.1_Silent_p.V301V|PTPRO_ENST00000544244.1_Silent_p.V301V|PTPRO_ENST00000445537.2_Silent_p.V329V	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1140	Substrate binding. {ECO:0000250}.|Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GTGCTGGCGTGGGACGGACAG	0.448																																						uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(3418-3420)GTG>GTA		receptor-type protein tyrosine phosphatase O							200.0	183.0	189.0					12																	15742398		2203	4300	6503	SO:0001819	synonymous_variant	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742398G>A	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3420G>A	12.37:g.15742398G>A						PTPRO_uc001rcw.1_Silent_p.V1112V|PTPRO_uc001rcx.1_Silent_p.V329V|PTPRO_uc001rcy.1_Silent_p.V329V|PTPRO_uc001rcz.1_Silent_p.V301V|PTPRO_uc001rda.1_Silent_p.V301V	p.V1140V	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			25	3594	+		Hepatocellular(102;0.244)	1140			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.|Substrate binding (By similarity).		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Silent	SNP	ENST00000281171.4	37	c.3420G>A	CCDS8675.1																																																																																				0.448	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			37	102	0	0	0	0	37	102				
ADAMTS20	80070	broad.mit.edu	37	12	43847849	43847849	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:43847849G>T	ENST00000389420.3	-	12	1620	c.1621C>A	c.(1621-1623)Cgt>Agt	p.R541S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R541S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	541	Disintegrin.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGCCCATGACGGCAATGCTAT	0.368																																						uc010skx.1		NA																	0				central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(1621-1623)CGT>AGT		a disintegrin-like and metalloprotease with							78.0	68.0	71.0					12																	43847849		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43847849G>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1621C>A	12.37:g.43847849G>T	ENSP00000374071:p.Arg541Ser						p.R541S	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	12	1621	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	541			Disintegrin.		A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.1621C>A	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348909	0.24426	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.62105	0.22;0.05	4.69	2.81	0.32909	.	0.725118	0.12241	N	0.486473	T	0.57446	0.2054	L	0.53561	1.675	0.80722	D	1	B	0.19706	0.038	B	0.21360	0.034	T	0.52480	-0.8570	10	0.45353	T	0.12	.	11.6328	0.51185	0.1488:0.0:0.8512:0.0	.	541	P59510	ATS20_HUMAN	S	541	ENSP00000374071:R541S;ENSP00000448341:R541S	ENSP00000374068:R541S	R	-	1	0	ADAMTS20	42134116	0.988000	0.35896	0.755000	0.31263	0.710000	0.40934	1.481000	0.35476	0.630000	0.30394	0.650000	0.86243	CGT		0.368	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		8	27	1	0	0.00448238	0.00459191	8	27				
SPRYD3	84926	broad.mit.edu	37	12	53470909	53470909	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:53470909C>T	ENST00000301463.4	-	2	246	c.160G>A	c.(160-162)Gat>Aat	p.D54N	SPRYD3_ENST00000547837.1_Missense_Mutation_p.D91N	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	54	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTTAAAGTATCTCCATCTACA	0.428																																						uc001sbt.1		NA																	0				central_nervous_system(1)	1						c.(160-162)GAT>AAT		SPRY domain containing 3							112.0	108.0	109.0					12																	53470909		2203	4300	6503	SO:0001583	missense	84926							g.chr12:53470909C>T	AK074694	CCDS8845.1	12q13.13	2006-11-29		2006-02-02		ENSG00000167778			25920	protein-coding gene	gene with protein product						14702039	Standard	NM_032840		Approved	FLJ14800	uc001sbt.2	Q8NCJ5	OTTHUMG00000170101	ENST00000301463.4:c.160G>A	12.37:g.53470909C>T	ENSP00000301463:p.Asp54Asn					SPRYD3_uc010snw.1_5'UTR	p.D54N	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN			2	181	-			54			B30.2/SPRY.		B9EG99|Q96SK5	Missense_Mutation	SNP	ENST00000301463.4	37	c.160G>A	CCDS8845.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.396493	0.62177	.	.	ENSG00000167778	ENST00000301463;ENST00000547837	T;T	0.65178	-0.14;-0.14	5.28	5.28	0.74379	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	L	0.59436	1.845	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.53725	-0.8398	10	0.15499	T	0.54	.	16.7921	0.85592	0.0:1.0:0.0:0.0	.	54	Q8NCJ5	SPRY3_HUMAN	N	54;91	ENSP00000301463:D54N;ENSP00000449452:D91N	ENSP00000301463:D54N	D	-	1	0	SPRYD3	51757176	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.128000	0.64733	2.635000	0.89317	0.561000	0.74099	GAT		0.428	SPRYD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407264.1	NM_032840		22	61	0	0	0	0	22	61				
STAT6	6778	broad.mit.edu	37	12	57492348	57492348	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:57492348A>G	ENST00000300134.3	-	19	2424	c.2099T>C	c.(2098-2100)aTc>aCc	p.I700T	STAT6_ENST00000537215.2_Missense_Mutation_p.I590T|STAT6_ENST00000538913.2_Missense_Mutation_p.I590T|STAT6_ENST00000543873.2_Missense_Mutation_p.I700T|STAT6_ENST00000556155.1_Missense_Mutation_p.I700T|STAT6_ENST00000454075.3_Missense_Mutation_p.I700T	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	700					cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|mammary gland epithelial cell proliferation (GO:0033598)|mammary gland morphogenesis (GO:0060443)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of isotype switching to IgE isotypes (GO:0048295)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|T-helper 1 cell lineage commitment (GO:0002296)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein phosphatase binding (GO:0019903)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						ATACGGGGGGATGGAGTGAGA	0.547																																						uc009zpe.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(2098-2100)ATC>ACC		signal transducer and activator of transcription							84.0	85.0	85.0					12																	57492348		2203	4300	6503	SO:0001583	missense	6778				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:57492348A>G	BC005823, BQ028928	CCDS8931.1, CCDS53804.1	12q13	2013-02-14				ENSG00000166888		"""SH2 domain containing"""	11368	protein-coding gene	gene with protein product		601512				9605853, 8085155	Standard	NM_003153		Approved	D12S1644, IL-4-STAT	uc001sna.3	P42226		ENST00000300134.3:c.2099T>C	12.37:g.57492348A>G	ENSP00000300134:p.Ile700Thr					STAT6_uc009zpf.2_Missense_Mutation_p.I700T|STAT6_uc001sna.2_Missense_Mutation_p.I700T|STAT6_uc010srb.1_Missense_Mutation_p.I590T|STAT6_uc010src.1_Missense_Mutation_p.I590T|STAT6_uc010srd.1_Missense_Mutation_p.I590T|STAT6_uc009zpg.2_Missense_Mutation_p.I749T	p.I700T	NM_003153	NP_003144	P42226	STAT6_HUMAN			19	2350	-			700					A8K316|B7ZA27|F5GXI9|Q5FBW5|Q71UP4	Missense_Mutation	SNP	ENST00000300134.3	37	c.2099T>C	CCDS8931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.85|12.85	2.062238|2.062238	0.36373|0.36373	.|.	.|.	ENSG00000166888|ENSG00000166888	ENST00000300134;ENST00000535201;ENST00000538913;ENST00000543873;ENST00000556155;ENST00000537215;ENST00000454075;ENST00000542721|ENST00000555318	D;D;D;D;D;D|T	0.92647|0.78126	-2.79;-3.08;-2.79;-2.79;-3.08;-2.79|-1.15	4.41|4.41	3.22|3.22	0.36961|0.36961	.|.	1.576060|.	0.03220|.	N|.	0.177407|.	T|T	0.63010|0.63010	0.2475|0.2475	N|N	0.19112|0.19112	0.55|0.55	0.21878|0.21878	N|N	0.999493|0.999493	B;B|.	0.23058|.	0.079;0.079|.	B;B|.	0.14023|.	0.01;0.01|.	T|T	0.51434|0.51434	-0.8706|-0.8706	10|6	0.36615|.	T|.	0.2|.	-4.6332|-4.6332	7.1803|7.1803	0.25768|0.25768	0.802:0.0:0.0:0.198|0.802:0.0:0.0:0.198	.|.	700;700|.	A8K4S9;P42226|.	.;STAT6_HUMAN|.	T|P	700;590;590;700;700;590;700;590|126	ENSP00000300134:I700T;ENSP00000445409:I590T;ENSP00000438451:I700T;ENSP00000451742:I700T;ENSP00000444530:I590T;ENSP00000401486:I700T|ENSP00000450428:S126P	ENSP00000300134:I700T|.	I|S	-|-	2|1	0|0	STAT6|STAT6	55778615|55778615	0.998000|0.998000	0.40836|0.40836	0.424000|0.424000	0.26647|0.26647	0.974000|0.974000	0.67602|0.67602	2.153000|2.153000	0.42282|0.42282	0.973000|0.973000	0.38340|0.38340	0.528000|0.528000	0.53228|0.53228	ATC|TCC		0.547	STAT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412248.3	NM_003153		4	72	0	0	0	0	4	72				
PIP4K2C	79837	broad.mit.edu	37	12	57994655	57994655	+	Missense_Mutation	SNP	G	G	A	rs368437479		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:57994655G>A	ENST00000354947.5	+	8	891	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	PIP4K2C_ENST00000422156.3_Missense_Mutation_p.R244Q|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R292Q|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R274Q			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	292	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					GACATCATTCGGGGCTCTGAA	0.562																																						uc001sou.2		NA																	0				central_nervous_system(2)|lung(1)	3						c.(874-876)CGG>CAG		phosphatidylinositol-5-phosphate 4-kinase, type		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	186.0	187.0	187.0		875,821,731,875	5.0	1.0	12		187	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	PIP4K2C	NM_001146258.1,NM_001146259.1,NM_001146260.1,NM_024779.4	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	292/422,274/404,244/374,292/422	57994655	1,13005	2203	4300	6503	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57994655G>A	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.875G>A	12.37:g.57994655G>A	ENSP00000347032:p.Arg292Gln					PIP4K2C_uc001sot.2_Missense_Mutation_p.R292Q|PIP4K2C_uc010srs.1_Missense_Mutation_p.R274Q|PIP4K2C_uc010srt.1_Missense_Mutation_p.R244Q	p.R292Q	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN			8	1006	+	Melanoma(17;0.122)		292			PIPK.		B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.875G>A	CCDS8946.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.78|16.78	3.218956|3.218956	0.58560|0.58560	0.0|0.0	1.16E-4|1.16E-4	ENSG00000166908|ENSG00000166908	ENST00000548264|ENST00000422156;ENST00000540759;ENST00000550465;ENST00000354947	.|T;T;T;T	.|0.31769	.|1.48;1.48;1.48;1.48	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	.|0.132077	.|0.52532	.|D	.|0.000076	T|T	0.38374|0.38374	0.1038|0.1038	L|L	0.55017|0.55017	1.72|1.72	0.48901|0.48901	D|D	0.999725|0.999725	.|P;P;P	.|0.52842	.|0.802;0.665;0.956	.|B;B;P	.|0.51229	.|0.44;0.168;0.663	T|T	0.10567|0.10567	-1.0624|-1.0624	5|10	.|0.46703	.|T	.|0.11	-9.6272|-9.6272	11.7196|11.7196	0.51675|0.51675	0.0871:0.0:0.9129:0.0|0.0871:0.0:0.9129:0.0	.|.	.|244;274;292	.|B4DM11;B4DY44;Q8TBX8	.|.;.;PI42C_HUMAN	R|Q	100|244;292;274;292	.|ENSP00000412035:R244Q;ENSP00000439878:R292Q;ENSP00000447390:R274Q;ENSP00000347032:R292Q	.|ENSP00000347032:R292Q	G|R	+|+	1|2	0|0	PIP4K2C|PIP4K2C	56280922|56280922	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.257000|6.257000	0.72480|0.72480	2.480000|2.480000	0.83734|0.83734	0.555000|0.555000	0.69702|0.69702	GGG|CGG		0.562	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		71	151	0	0	0	0	71	151				
NEDD1	121441	broad.mit.edu	37	12	97345265	97345265	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:97345265C>T	ENST00000266742.4	+	15	2206	c.1867C>T	c.(1867-1869)Cat>Tat	p.H623Y	NEDD1_ENST00000429527.2_Missense_Mutation_p.H623Y|NEDD1_ENST00000457368.2_Missense_Mutation_p.H534Y|NEDD1_ENST00000557644.1_Missense_Mutation_p.H630Y|NEDD1_ENST00000411739.2_Missense_Mutation_p.H534Y	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	623					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TAAACAGTTTCATATGCAACT	0.274																																						uc001teu.3		NA																	0					0						c.(1867-1869)CAT>TAT		neural precursor cell expressed, developmentally							72.0	73.0	73.0					12																	97345265		2203	4292	6495	SO:0001583	missense	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97345265C>T		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.1867C>T	12.37:g.97345265C>T	ENSP00000266742:p.His623Tyr					NEDD1_uc001tev.3_Missense_Mutation_p.H623Y|NEDD1_uc010svc.1_Missense_Mutation_p.H534Y|NEDD1_uc001tew.2_Missense_Mutation_p.H630Y|NEDD1_uc001tex.2_Missense_Mutation_p.H534Y	p.H623Y	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			15	2206	+			623					B0AZN0|B4E145|G3V3F1|Q8NA30	Missense_Mutation	SNP	ENST00000266742.4	37	c.1867C>T	CCDS9063.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188897	0.57909	.	.	ENSG00000139350	ENST00000266742;ENST00000429527;ENST00000411739;ENST00000557644;ENST00000457368	T;T;T;T;T	0.49139	0.79;0.79;1.56;0.79;1.56	5.93	5.93	0.95920	.	0.047549	0.85682	D	0.000000	T	0.64360	0.2591	L	0.52364	1.645	0.51233	D	0.999917	D;D	0.67145	0.996;0.985	D;P	0.75020	0.985;0.789	T	0.54483	-0.8287	10	0.25751	T	0.34	.	20.3334	0.98727	0.0:1.0:0.0:0.0	.	630;623	G3V3F1;Q8NHV4	.;NEDD1_HUMAN	Y	623;623;534;630;534	ENSP00000266742:H623Y;ENSP00000404978:H623Y;ENSP00000411307:H534Y;ENSP00000451211:H630Y;ENSP00000407964:H534Y	ENSP00000266742:H623Y	H	+	1	0	NEDD1	95869396	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.210000	0.51129	2.818000	0.97014	0.591000	0.81541	CAT		0.274	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			10	30	0	0	0	0	10	30				
TCP11L2	255394	broad.mit.edu	37	12	106708240	106708240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:106708240C>T	ENST00000299045.3	+	3	436	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	TCP11L2_ENST00000546625.1_Nonsense_Mutation_p.Q88*|TCP11L2_ENST00000547153.1_Nonsense_Mutation_p.Q88*	NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	88										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TGAGAACTTTCAATTGAAACA	0.418																																						uc001tln.2		NA																	0				ovary(3)	3						c.(262-264)CAA>TAA		t-complex 11 (mouse) like 2							78.0	81.0	80.0					12																	106708240		2203	4300	6503	SO:0001587	stop_gained	255394							g.chr12:106708240C>T	BC033617	CCDS9104.1, CCDS66456.1	12q23.3	2014-08-12	2012-09-20		ENSG00000166046	ENSG00000166046			28627	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 2"", ""t-complex 11 (mouse)-like 2"""				Standard	XM_005268769		Approved	MGC40368	uc001tln.3	Q8N4U5	OTTHUMG00000170087	ENST00000299045.3:c.262C>T	12.37:g.106708240C>T	ENSP00000299045:p.Gln88*					TCP11L2_uc001tll.2_Nonsense_Mutation_p.Q88*|TCP11L2_uc001tlm.2_Nonsense_Mutation_p.Q88*	p.Q88*	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN			3	436	+			88					B2RA65|G3V1Y9	Nonsense_Mutation	SNP	ENST00000299045.3	37	c.262C>T	CCDS9104.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.175452	0.38413	.	.	ENSG00000166046	ENST00000547153;ENST00000299045;ENST00000546625;ENST00000553098;ENST00000551802;ENST00000548428	.	.	.	5.82	2.85	0.33270	.	0.475298	0.25660	N	0.029160	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-3.8153	11.3025	0.49314	0.0:0.5199:0.4094:0.0707	.	.	.	.	X	88	.	ENSP00000299045:Q88X	Q	+	1	0	TCP11L2	105232370	0.002000	0.14202	0.020000	0.16555	0.426000	0.31534	0.566000	0.23593	0.272000	0.22027	0.655000	0.94253	CAA		0.418	TCP11L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407206.1	NM_152772		10	44	0	0	0	0	10	44				
MMP17	4326	broad.mit.edu	37	12	132325377	132325377	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr12:132325377G>A	ENST00000360564.1	+	4	784	c.682G>A	c.(682-684)Gag>Aag	p.E228K	MMP17_ENST00000535291.1_Missense_Mutation_p.E144K|MMP17_ENST00000535182.1_3'UTR	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	228					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	TGACGATGACGAGGCCTGGAC	0.711																																						uc001ujc.1		NA																	0					0						c.(682-684)GAG>AAG		matrix metalloproteinase 17 preproprotein							18.0	19.0	18.0					12																	132325377		2183	4270	6453	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132325377G>A	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.682G>A	12.37:g.132325377G>A	ENSP00000353767:p.Glu228Lys					MMP17_uc001ujd.1_Missense_Mutation_p.E144K	p.E228K	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	4	781	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		228					Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.682G>A	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142506	0.77888	.	.	ENSG00000198598	ENST00000360564;ENST00000545671;ENST00000535291;ENST00000534865	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	4.55	4.55	0.56014	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.130922	0.49305	D	0.000158	T	0.63710	0.2534	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73745	-0.3886	10	0.87932	D	0	.	17.4857	0.87687	0.0:0.0:1.0:0.0	.	228	Q9ULZ9	MMP17_HUMAN	K	228;124;144;69	ENSP00000353767:E228K;ENSP00000444603:E124K;ENSP00000441106:E144K;ENSP00000442104:E69K	ENSP00000353767:E228K	E	+	1	0	MMP17	130891330	1.000000	0.71417	0.149000	0.22428	0.139000	0.21198	9.447000	0.97595	2.360000	0.80028	0.491000	0.48974	GAG		0.711	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		7	21	0	0	0	0	7	21				
STARD13	90627	broad.mit.edu	37	13	33684190	33684190	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:33684190G>A	ENST00000336934.5	-	12	2983	c.2867C>T	c.(2866-2868)tCt>tTt	p.S956F	STARD13_ENST00000255486.4_Missense_Mutation_p.S948F|STARD13_ENST00000399365.3_Missense_Mutation_p.S838F	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	956	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACCTCCACAGAAGCCTTCCA	0.562											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001uuw.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2866-2868)TCT>TTT		StAR-related lipid transfer (START) domain							67.0	62.0	64.0					13																	33684190		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33684190G>A	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.2867C>T	13.37:g.33684190G>A	ENSP00000338785:p.Ser956Phe		OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	841	STARD13_uc001uuu.2_Missense_Mutation_p.S948F|STARD13_uc001uuv.2_Missense_Mutation_p.S838F|STARD13_uc001uux.2_Missense_Mutation_p.S921F|STARD13_uc010tec.1_RNA	p.S956F	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	12	2993	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	956			START.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.2867C>T	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757599	0.69648	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934	T;T;T	0.79454	-1.27;-1.27;-1.27	5.34	4.43	0.53597	Lipid-binding START (3);START-like domain (1);	0.306181	0.37012	N	0.002299	D	0.87884	0.6290	M	0.86343	2.81	0.80722	D	1	D;P;D	0.56746	0.977;0.937;0.977	P;P;P	0.61003	0.879;0.882;0.879	D	0.89775	0.3957	10	0.66056	D	0.02	.	15.7911	0.78364	0.0:0.1362:0.8638:0.0	.	921;956;948	Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;STA13_HUMAN;.	F	838;948;956	ENSP00000382300:S838F;ENSP00000255486:S948F;ENSP00000338785:S956F	ENSP00000255486:S948F	S	-	2	0	STARD13	32582190	0.998000	0.40836	0.008000	0.14137	0.947000	0.59692	6.539000	0.73856	2.657000	0.90304	0.655000	0.94253	TCT		0.562	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		9	21	0	0	0	0	9	21				
HTR2A	3356	broad.mit.edu	37	13	47469754	47469754	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:47469754G>C	ENST00000378688.4	-	1	419	c.288C>G	c.(286-288)atC>atG	p.I96M	HTR2A_ENST00000543956.1_Intron|HTR2A_ENST00000542664.1_Missense_Mutation_p.I96M			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	96					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ACACTGCCATGATGACGAGTA	0.458																																						uc001vbq.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(286-288)ATC>ATG		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						136.0	121.0	126.0					13																	47469754		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47469754G>C	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.288C>G	13.37:g.47469754G>C	ENSP00000367959:p.Ile96Met					HTR2A_uc001vbr.2_Intron|HTR2A_uc010acr.2_Missense_Mutation_p.I96M	p.I96M	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	1	422	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	96			Helical; Name=1; (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.288C>G	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.257999	0.59321	.	.	ENSG00000102468	ENST00000378688;ENST00000542664	T;T	0.76316	-1.01;-1.01	5.81	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.81179	2.53	0.53688	D	0.999976	D	0.89917	1.0	D	0.97110	1.0	D	0.87231	0.2260	10	0.66056	D	0.02	.	8.9535	0.35803	0.074:0.0:0.779:0.147	.	96	P28223	5HT2A_HUMAN	M	96	ENSP00000367959:I96M;ENSP00000437737:I96M	ENSP00000367959:I96M	I	-	3	3	HTR2A	46367755	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.767000	0.55288	1.465000	0.48006	0.655000	0.94253	ATC		0.458	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621		20	29	0	0	0	0	20	29				
PCDH9	5101	broad.mit.edu	37	13	67801807	67801807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr13:67801807G>A	ENST00000377865.2	-	1	900	c.766C>T	c.(766-768)Caa>Taa	p.Q256*	PCDH9_ENST00000377861.3_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000456367.1_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000544246.1_Nonsense_Mutation_p.Q256*|PCDH9_ENST00000328454.5_Nonsense_Mutation_p.Q256*			Q9HC56	PCDH9_HUMAN	protocadherin 9	256	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTCCACTTGACCCTCTTTA	0.473																																						uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(766-768)CAA>TAA		protocadherin 9 isoform 1 precursor							124.0	112.0	116.0					13																	67801807		2203	4300	6503	SO:0001587	stop_gained	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801807G>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.766C>T	13.37:g.67801807G>A	ENSP00000367096:p.Gln256*					PCDH9_uc001vil.2_Nonsense_Mutation_p.Q256*|PCDH9_uc010thl.1_Nonsense_Mutation_p.Q256*|PCDH9_uc001vin.3_Nonsense_Mutation_p.Q256*	p.Q256*	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1458	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	256			Extracellular (Potential).|Cadherin 3.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Nonsense_Mutation	SNP	ENST00000377865.2	37	c.766C>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502188	0.85176	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	256	.	ENSP00000332060:Q256X	Q	-	1	0	PCDH9	66699808	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.876000	0.87215	2.941000	0.99782	0.655000	0.94253	CAA		0.473	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		24	34	0	0	0	0	24	34				
GNPNAT1	64841	broad.mit.edu	37	14	53251317	53251317	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:53251317C>T	ENST00000216410.3	-	2	239	c.52G>A	c.(52-54)Gac>Aac	p.D18N	RN7SL588P_ENST00000583393.1_RNA|GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	18					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TGACTCCAGTCCACTTCTTTG	0.373																																						uc001xab.2		NA																	0					0						c.(52-54)GAC>AAC		glucosamine-phosphate N-acetyltransferase 1							65.0	60.0	62.0					14																	53251317		2203	4300	6503	SO:0001583	missense	64841				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity	g.chr14:53251317C>T	AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.52G>A	14.37:g.53251317C>T	ENSP00000216410:p.Asp18Asn						p.D18N	NM_198066	NP_932332	Q96EK6	GNA1_HUMAN			2	307	-	Breast(41;0.176)		18						Missense_Mutation	SNP	ENST00000216410.3	37	c.52G>A	CCDS9712.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997437	0.74818	.	.	ENSG00000100522	ENST00000216410;ENST00000557604	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.64567	1.98	0.80722	D	1	B	0.24920	0.114	B	0.20767	0.031	T	0.62642	-0.6811	9	0.42905	T	0.14	-11.8321	20.1554	0.98111	0.0:1.0:0.0:0.0	.	18	Q96EK6	GNA1_HUMAN	N	18	.	ENSP00000216410:D18N	D	-	1	0	GNPNAT1	52321067	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.336000	0.79245	2.838000	0.97847	0.591000	0.81541	GAC		0.373	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1			139	15	0	0	0	0	139	15				
DIO2	1734	broad.mit.edu	37	14	80669404	80669404	+	Missense_Mutation	SNP	G	G	A	rs201964819		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:80669404G>A	ENST00000557125.1	-	2	73	c.74C>T	c.(73-75)tCt>tTt	p.S25F	DIO2_ENST00000555750.1_Silent_p.F186F|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557010.1_Silent_p.F150F|DIO2_ENST00000438257.4_Silent_p.F150F			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		CCACTGAGGAGAACTCTTCCA	0.557											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010tvq.1		NA																	0				central_nervous_system(1)	1						c.(448-450)TTC>TTT		deiodinase, iodothyronine, type II isoform a							55.0	59.0	58.0					14																	80669404		2096	4221	6317	SO:0001583	missense	1734				hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	g.chr14:80669404G>A	AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000557125.1:c.74C>T	14.37:g.80669404G>A	ENSP00000450547:p.Ser25Phe		OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1200	DIO2_uc010tvp.1_Silent_p.F186F|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Silent_p.F150F|DIO2_uc010asy.2_3'UTR	p.F150F	NM_000793	NP_000784	Q92813	IOD2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0281)	4	852	-			150					B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Silent	SNP	ENST00000557125.1	37	c.450C>T		.	.	.	.	.	.	.	.	.	.	G	13.47	2.245474	0.39697	.	.	ENSG00000211448	ENST00000557125	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	T	0.76550	0.4003	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74548	-0.3629	4	.	.	.	.	19.7712	0.96366	0.0:0.0:1.0:0.0	.	.	.	.	F	25	.	.	S	-	2	0	DIO2	79739157	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.399000	0.59703	2.677000	0.91161	0.585000	0.79938	TCT		0.557	DIO2-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000413753.1			7	15	0	0	0	0	7	15				
GPR65	8477	broad.mit.edu	37	14	88477470	88477470	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:88477470C>T	ENST00000267549.3	+	2	837	c.279C>T	c.(277-279)ctC>ctT	p.L93L	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	93					actin cytoskeleton reorganization (GO:0031532)|activation of Rho GTPase activity (GO:0032862)|apoptotic process (GO:0006915)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of stress fiber assembly (GO:0051496)|response to acidic pH (GO:0010447)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTGCTTTTCTCATGTACATGA	0.403																																						uc001xvv.2		NA																	0					0						c.(277-279)CTC>CTT		G protein-coupled receptor 65							202.0	195.0	197.0					14																	88477470		2203	4300	6503	SO:0001819	synonymous_variant	8477				actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	g.chr14:88477470C>T	U95218	CCDS9879.1	14q31-q32.1	2012-08-21			ENSG00000140030	ENSG00000140030		"""GPCR / Class A : Orphans"""	4517	protein-coding gene	gene with protein product		604620				9655242	Standard	NM_003608		Approved	hTDAG8, TDAG8	uc001xvv.3	Q8IYL9	OTTHUMG00000028648	ENST00000267549.3:c.279C>T	14.37:g.88477470C>T							p.L93L	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN			2	809	+			93			Helical; Name=3; (Potential).		O75819	Silent	SNP	ENST00000267549.3	37	c.279C>T	CCDS9879.1																																																																																				0.403	GPR65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071564.4			52	97	0	0	0	0	52	97				
BTBD7	55727	broad.mit.edu	37	14	93709138	93709138	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr14:93709138G>A	ENST00000334746.5	-	11	3187	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L	BTBD7_ENST00000554565.1_Silent_p.L609L|BTBD7_ENST00000393170.2_Silent_p.L534L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	960					multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		TGCGTCTGCTGAGAGCAGGAG	0.478																																						uc001ybo.2		NA																	0				pancreas(1)	1						c.(2878-2880)CTC>CTT		BTB (POZ) domain containing 7 isoform 1							163.0	150.0	154.0					14																	93709138		2203	4300	6503	SO:0001819	synonymous_variant	55727							g.chr14:93709138G>A	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2880C>T	14.37:g.93709138G>A						BTBD7_uc010aur.2_Silent_p.L485L|BTBD7_uc010two.1_Silent_p.L780L|BTBD7_uc001ybp.2_Silent_p.L609L	p.L960L	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	11	3206	-		all_cancers(154;0.08)	960					A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	Silent	SNP	ENST00000334746.5	37	c.2880C>T	CCDS32146.1																																																																																				0.478	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		24	34	0	0	0	0	24	34				
MGA	23269	broad.mit.edu	37	15	42019556	42019556	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:42019556C>T	ENST00000570161.1	+	9	3609	c.3609C>T	c.(3607-3609)ctC>ctT	p.L1203L	MGA_ENST00000545763.1_Silent_p.L1203L|MGA_ENST00000219905.7_Silent_p.L1203L|MGA_ENST00000389936.4_Silent_p.L1203L|MGA_ENST00000566586.1_Silent_p.L1203L			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				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)			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)	GCAAACTGCTCACTGGAATTA	0.403																																						uc010ucy.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(3607-3609)CTC>CTT		MAX-interacting protein isoform 1							167.0	159.0	162.0					15																	42019556		1863	4098	5961	SO:0001819	synonymous_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42019556C>T	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.3609C>T	15.37:g.42019556C>T						MGA_uc010ucz.1_Silent_p.L1203L	p.L1203L	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)	10	3790	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1203					Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	c.3609C>T	CCDS55959.1																																																																																				0.403	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		43	118	0	0	0	0	43	118				
PKM	5315	broad.mit.edu	37	15	72502754	72502754	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:72502754G>A	ENST00000335181.5	-	4	415	c.312C>T	c.(310-312)ctC>ctT	p.L104L	PKM_ENST00000449901.2_Silent_p.L89L|PKM_ENST00000389093.3_Silent_p.L104L|PKM_ENST00000565154.1_Silent_p.L104L|PKM_ENST00000568883.1_Intron|PKM_ENST00000565184.1_Silent_p.L104L|PKM_ENST00000568459.1_Silent_p.L104L|PKM_ENST00000319622.6_Silent_p.L104L	NM_002654.4	NP_002645.3	P14618	KPYM_HUMAN	pyruvate kinase, muscle	104					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|programmed cell death (GO:0012501)|small molecule metabolic process (GO:0044281)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)			endometrium(1)|lung(7)	8					Pyruvic acid(DB00119)	CGGGCCGGTAGAGGATGGGGT	0.562																																						uc002atx.1		NA																	0				breast(1)	1						c.(310-312)CTC>CTT		pyruvate kinase, muscle isoform M1	Pyruvic acid(DB00119)						118.0	106.0	110.0					15																	72502754		2199	4297	6496	SO:0001819	synonymous_variant	5315				glycolysis|programmed cell death	cytosol|nucleus|plasma membrane	ATP binding|magnesium ion binding|potassium ion binding|protein binding|pyruvate kinase activity	g.chr15:72502754G>A	M23725	CCDS32284.1, CCDS32285.1, CCDS55972.1, CCDS73752.1	15q23	2012-10-02		2012-05-23	ENSG00000067225	ENSG00000067225	2.7.1.40		9021	protein-coding gene	gene with protein product		179050		PKM2		2040271	Standard	NM_002654		Approved	THBP1, OIP3, PK3	uc002atr.1	P14618	OTTHUMG00000172709	ENST00000335181.5:c.312C>T	15.37:g.72502754G>A						PKM2_uc002att.1_5'Flank|PKM2_uc002atu.1_5'Flank|PKM2_uc010bit.1_Silent_p.L109L|PKM2_uc010uki.1_Silent_p.L178L|PKM2_uc002atv.1_Silent_p.L139L|PKM2_uc002atw.1_Silent_p.L104L|PKM2_uc002aty.1_Silent_p.L104L|PKM2_uc010ukj.1_Silent_p.L89L|PKM2_uc010ukk.1_Intron|PKM2_uc010biu.1_Silent_p.L125L|PKM2_uc002atz.1_RNA	p.L104L	NM_182471	NP_872271	P14618	KPYM_HUMAN			4	553	-			104					A6NFK3|B2R5N8|B3KRY0|B4DFX8|B4DUU6|P14786|Q53GK4|Q96E76|Q9BWB5|Q9UCV6|Q9UPF2	Silent	SNP	ENST00000335181.5	37	c.312C>T	CCDS32284.1																																																																																				0.562	PKM-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420056.1			59	44	0	0	0	0	59	44				
NEIL1	79661	broad.mit.edu	37	15	75641389	75641389	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:75641389C>T	ENST00000564784.1	+	3	772	c.143C>T	c.(142-144)tCa>tTa	p.S48L	NEIL1_ENST00000567959.1_Intron|NEIL1_ENST00000569035.1_Missense_Mutation_p.S48L|NEIL1_ENST00000355059.4_Missense_Mutation_p.S48L			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	48					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						TACCGCATCTCAGCTTCAGCC	0.657								Base excision repair (BER), DNA glycosylases																														uc002bad.2		NA																	0				ovary(1)	1						c.(142-144)TCA>TTA	BER_DNA_glycosylases	nei endonuclease VIII-like 1							45.0	40.0	42.0					15																	75641389		2197	4294	6491	SO:0001583	missense	79661				base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding	g.chr15:75641389C>T	AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.143C>T	15.37:g.75641389C>T	ENSP00000457352:p.Ser48Leu					NEIL1_uc002bae.2_Missense_Mutation_p.S134L	p.S48L	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN			2	649	+			48					D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Missense_Mutation	SNP	ENST00000564784.1	37	c.143C>T	CCDS10278.1	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366608	0.61513	.	.	ENSG00000140398	ENST00000355059;ENST00000336572	T	0.15139	2.45	5.4	5.4	0.78164	DNA glycosylase/AP lyase, catalytic domain (4);	0.167731	0.51477	D	0.000091	T	0.22126	0.0533	L	0.37697	1.125	0.43453	D	0.995649	D	0.65815	0.995	P	0.50537	0.643	T	0.00468	-1.1721	10	0.72032	D	0.01	-13.2757	13.8402	0.63435	0.0:0.847:0.153:0.0	.	48	Q96FI4	NEIL1_HUMAN	L	48	ENSP00000347170:S48L	ENSP00000338328:S48L	S	+	2	0	NEIL1	73428442	0.981000	0.34729	0.909000	0.35828	0.159000	0.22180	2.540000	0.45727	2.525000	0.85131	0.561000	0.74099	TCA		0.657	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419885.1	NM_024608		40	18	0	0	0	0	40	18				
TTC23	64927	broad.mit.edu	37	15	99758831	99758831	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr15:99758831C>T	ENST00000394132.2	-	8	1360	c.543G>A	c.(541-543)tgG>tgA	p.W181*	TTC23_ENST00000558663.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000394130.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000558613.1_Nonsense_Mutation_p.W181*|TTC23_ENST00000394129.2_Nonsense_Mutation_p.W181*|TTC23_ENST00000262074.4_Nonsense_Mutation_p.W181*|TTC23_ENST00000394135.3_Nonsense_Mutation_p.W181*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.W181*			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	181										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAATTTCTATCCATTCTTCCT	0.383																																						uc002bur.2		NA																	0					0						c.(541-543)TGG>TGA		tetratricopeptide repeat domain 23							207.0	196.0	199.0					15																	99758831		2197	4297	6494	SO:0001587	stop_gained	64927						binding	g.chr15:99758831C>T		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.543G>A	15.37:g.99758831C>T	ENSP00000377690:p.Trp181*					TTC23_uc002bus.2_Nonsense_Mutation_p.W181*|TTC23_uc002but.2_Nonsense_Mutation_p.W181*|TTC23_uc002buu.2_Nonsense_Mutation_p.W181*|TTC23_uc002buv.2_Nonsense_Mutation_p.W181*|TTC23_uc002bux.2_Nonsense_Mutation_p.W181*|TTC23_uc002buw.2_Nonsense_Mutation_p.W181*|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Nonsense_Mutation_p.W181*|TTC23_uc010bor.2_Nonsense_Mutation_p.W181*|TTC23_uc002buz.2_Nonsense_Mutation_p.W181*	p.W181*	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)		7	1074	-	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		181					A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Nonsense_Mutation	SNP	ENST00000394132.2	37	c.543G>A	CCDS10379.2	.	.	.	.	.	.	.	.	.	.	C	41	8.576879	0.98870	.	.	ENSG00000103852	ENST00000394132;ENST00000394136;ENST00000262074;ENST00000394135;ENST00000394130;ENST00000394129	.	.	.	5.44	5.44	0.79542	.	0.157867	0.44688	D	0.000427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.3059	14.7634	0.69621	0.0:1.0:0.0:0.0	.	.	.	.	X	181	.	ENSP00000262074:W181X	W	-	3	0	TTC23	97576354	0.997000	0.39634	0.910000	0.35882	0.974000	0.67602	3.830000	0.55768	2.547000	0.85894	0.655000	0.94253	TGG		0.383	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303953.2	NM_022905		90	62	0	0	0	0	90	62				
ABCA3	21	broad.mit.edu	37	16	2376270	2376270	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:2376270C>T	ENST00000301732.5	-	5	760	c.60G>A	c.(58-60)cgG>cgA	p.R20R	ABCA3_ENST00000382381.3_Silent_p.R20R|ABCA3_ENST00000567910.1_Silent_p.R20R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	20					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	CCAGGACCTTCCGCTTCTGGA	0.567																																						uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(58-60)CGG>CGA		ATP-binding cassette, sub-family A member 3							62.0	65.0	64.0					16																	2376270		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2376270C>T	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.60G>A	16.37:g.2376270C>T						ABCA3_uc010bsk.1_Silent_p.R20R|ABCA3_uc010bsl.1_Silent_p.R20R|ABCA3_uc002cpz.1_Silent_p.R20R	p.R20R	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			5	772	-		Ovarian(90;0.17)	20					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.60G>A	CCDS10466.1																																																																																				0.567	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		44	25	0	0	0	0	44	25				
NLRC3	197358	broad.mit.edu	37	16	3614473	3614473	+	RNA	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:3614473C>T	ENST00000301749.7	-	0	870				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_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)			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						CGAAGTGCCTCACCAGGGTGG	0.657																																						uc010btn.2		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1)	6						c.(463-465)GTG>GTA		NOD3 protein							35.0	42.0	40.0					16																	3614473		2023	4162	6185			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614473C>T	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.3614473C>T							p.V155V	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN			5	876	-			155			NACHT.		Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Silent	SNP	ENST00000301749.7	37	c.465G>A																																																																																					0.657	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		32	13	0	0	0	0	32	13				
PRR14	78994	broad.mit.edu	37	16	30665567	30665567	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:30665567A>G	ENST00000542965.2	+	6	1021	c.565A>G	c.(565-567)Ata>Gta	p.I189V	PRR14_ENST00000300835.4_Missense_Mutation_p.I189V			Q9BWN1	PRR14_HUMAN	proline rich 14	189	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCCATGAGGATAGTTCGCCA	0.587																																						uc002dyy.2		NA																	0					0						c.(565-567)ATA>GTA		proline rich 14							148.0	159.0	155.0					16																	30665567		2197	4300	6497	SO:0001583	missense	78994							g.chr16:30665567A>G	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.565A>G	16.37:g.30665567A>G	ENSP00000441641:p.Ile189Val					PRR14_uc002dyz.2_Missense_Mutation_p.I34V|PRR14_uc002dza.2_Missense_Mutation_p.I189V|PRR14_uc002dzb.1_Missense_Mutation_p.I3V	p.I189V	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		7	823	+			189			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.565A>G	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.657178	0.00779	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	T;T	0.41400	1.0;1.0	5.39	1.85	0.25348	.	1.250830	0.05350	N	0.531742	T	0.32255	0.0823	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21042	-1.0257	10	0.24483	T	0.36	1.5378	6.1949	0.20544	0.6916:0.0:0.3084:0.0	.	189	Q9BWN1	PRR14_HUMAN	V	162;189;189	ENSP00000300835:I189V;ENSP00000441641:I189V	ENSP00000287463:I162V	I	+	1	0	PRR14	30573068	0.000000	0.05858	0.001000	0.08648	0.045000	0.14185	-0.141000	0.10327	0.492000	0.27815	0.528000	0.53228	ATA		0.587	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		15	239	0	0	0	0	15	239				
CDH16	1014	broad.mit.edu	37	16	66945110	66945110	+	Silent	SNP	C	C	G	rs148829305		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:66945110C>G	ENST00000299752.4	-	14	2092	c.1899G>C	c.(1897-1899)acG>acC	p.T633T	CDH16_ENST00000394055.3_Silent_p.T633T|CDH16_ENST00000565796.1_Silent_p.T633T|CDH16_ENST00000570262.1_Silent_p.T553T|CDH16_ENST00000568632.1_Silent_p.T536T	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCACAAGCACCGTGTAGGTGT	0.612																																						uc002eql.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(1897-1899)ACG>ACC		cadherin 16 precursor							35.0	36.0	35.0					16																	66945110		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66945110C>G	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.1899G>C	16.37:g.66945110C>G						CDH16_uc010cdy.2_Silent_p.T633T|CDH16_uc002eqm.2_Silent_p.T536T	p.T633T	NM_004062	NP_004053	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	14	1972	-		Ovarian(137;0.0563)	633			Extracellular (Potential).|Cadherin 6.		B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.1899G>C	CCDS10823.1																																																																																				0.612	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		9	18	0	0	0	0	9	18				
KIAA0513	9764	broad.mit.edu	37	16	85106591	85106591	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr16:85106591G>T	ENST00000566428.1	+	4	1121	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L	KIAA0513_ENST00000258180.3_Missense_Mutation_p.V164L|KIAA0513_ENST00000538274.1_Missense_Mutation_p.V164L|KIAA0513_ENST00000567328.1_Missense_Mutation_p.V164L			O60268	K0513_HUMAN	KIAA0513	164						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTCTTTTGCAGTGGTGCTGTT	0.567																																						uc002fiu.2		NA																	0				breast(1)	1						c.(490-492)GTG>TTG		hypothetical protein LOC9764							204.0	157.0	173.0					16																	85106591		2199	4300	6499	SO:0001583	missense	9764					cytoplasm		g.chr16:85106591G>T	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.490G>T	16.37:g.85106591G>T	ENSP00000457408:p.Val164Leu					KIAA0513_uc002fis.3_Missense_Mutation_p.V164L|KIAA0513_uc010voj.1_Missense_Mutation_p.V164L|KIAA0513_uc002fit.2_Missense_Mutation_p.V164L	p.V164L	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	4	710	+			164					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.490G>T	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648707	0.47258	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.37235	1.21;1.21	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.43646	1.37	0.54753	D	0.999985	B;B	0.18968	0.02;0.032	B;B	0.16722	0.016;0.007	T	0.07673	-1.0760	10	0.06236	T	0.91	-4.464	14.3186	0.66470	0.0:0.1494:0.8506:0.0	.	164;164	B4DSS5;O60268	.;K0513_HUMAN	L	164	ENSP00000446439:V164L;ENSP00000258180:V164L	ENSP00000258180:V164L	V	+	1	0	KIAA0513	83664092	1.000000	0.71417	0.943000	0.38184	0.941000	0.58515	6.954000	0.76001	2.534000	0.85438	0.555000	0.69702	GTG		0.567	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		20	65	1	0	8.05e-18	8.7e-18	20	65				
MED11	400569	broad.mit.edu	37	17	4635163	4635163	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:4635163G>A	ENST00000293777.5	+	2	234	c.178G>A	c.(178-180)Gag>Aag	p.E60K	CXCL16_ENST00000576153.1_5'Flank|MED11_ENST00000573708.1_Missense_Mutation_p.E60K|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.E60K	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	60						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						GCAACACGTGGAGGCGGAGCT	0.607											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fyp.2		NA																	0					0						c.(178-180)GAG>AAG		mediator complex subunit 11							39.0	42.0	41.0					17																	4635163		2203	4300	6503	SO:0001583	missense	400569				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding	g.chr17:4635163G>A	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.178G>A	17.37:g.4635163G>A	ENSP00000293777:p.Glu60Lys		OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	620		p.E60K	NM_001001683	NP_001001683	Q9P086	MED11_HUMAN			2	240	+			60					Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	37	c.178G>A	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	37	6.438649	0.97568	.	.	ENSG00000161920	ENST00000293777	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.79782	0.4505	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.81215	-0.1034	9	0.87932	D	0	-7.9314	17.5022	0.87735	0.0:0.0:1.0:0.0	.	60	Q9P086	MED11_HUMAN	K	60	.	ENSP00000293777:E60K	E	+	1	0	MED11	4581912	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.656000	0.83736	2.727000	0.93392	0.655000	0.94253	GAG		0.607	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683		11	20	0	0	0	0	11	20				
CAMTA2	23125	broad.mit.edu	37	17	4889259	4889259	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:4889259C>A	ENST00000348066.3	-	3	174	c.51G>T	c.(49-51)aaG>aaT	p.K17N	CAMTA2_ENST00000361571.5_Missense_Mutation_p.K40N|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K40N|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K17N|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K17N|CAMTA2_ENST00000571831.1_5'Flank|RP5-1050D4.4_ENST00000575985.1_RNA|RP5-1050D4.5_ENST00000574260.1_RNA|CAMTA2_ENST00000381311.5_Missense_Mutation_p.K19N	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	17					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGAGAAAGATCTTCAGGTGGT	0.537																																						uc002gah.1		NA																	0				ovary(1)	1						c.(49-51)AAG>AAT		calmodulin binding transcription activator 2							74.0	82.0	80.0					17																	4889259		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4889259C>A	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.51G>T	17.37:g.4889259C>A	ENSP00000321813:p.Lys17Asn					CAMTA2_uc010cku.1_Missense_Mutation_p.K40N|CAMTA2_uc002gag.1_Missense_Mutation_p.K40N|CAMTA2_uc002gai.1_Missense_Mutation_p.K19N|CAMTA2_uc010vsu.1_5'UTR	p.K17N	NM_015099	NP_055914	O94983	CMTA2_HUMAN			3	159	-			17					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.51G>T	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454672	0.63290	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.53857	2.28;1.2;1.3;0.82;0.6	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	N	0.24115	0.695	0.32821	D	0.502749	D;D;D;D	0.89917	1.0;0.998;0.993;0.998	D;D;D;D	0.91635	0.999;0.995;0.977;0.995	T	0.64032	-0.6502	10	0.72032	D	0.01	-18.62	8.226	0.31568	0.0:0.892:0.0:0.108	.	40;19;17;40	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	N	40;19;40;17;17	ENSP00000412886:K40N;ENSP00000370712:K19N;ENSP00000354828:K40N;ENSP00000350910:K17N;ENSP00000321813:K17N	ENSP00000321813:K17N	K	-	3	2	CAMTA2	4829983	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.578000	0.46051	2.362000	0.80069	0.462000	0.41574	AAG		0.537	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		26	41	1	0	4.6e-10	4.91e-10	26	41				
NLRP1	22861	broad.mit.edu	37	17	5440230	5440230	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:5440230C>T	ENST00000572272.1	-	8	2900	c.2901G>A	c.(2899-2901)atG>atA	p.M967I	NLRP1_ENST00000345221.3_Missense_Mutation_p.M967I|NLRP1_ENST00000269280.4_Missense_Mutation_p.M967I|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000354411.3_Intron|NLRP1_ENST00000262467.5_Missense_Mutation_p.M967I			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	967					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GTTCCTGCCTCATCTCATCAC	0.622																																						uc002gci.2		NA																	0				lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(2899-2901)ATG>ATA		NLR family, pyrin domain containing 1 isoform 1							68.0	58.0	62.0					17																	5440230		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5440230C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2901G>A	17.37:g.5440230C>T	ENSP00000460475:p.Met967Ile					NLRP1_uc002gcg.1_Missense_Mutation_p.M967I|NLRP1_uc002gck.2_Missense_Mutation_p.M967I|NLRP1_uc002gcj.2_Intron|NLRP1_uc002gcl.2_Intron|NLRP1_uc002gch.3_Missense_Mutation_p.M967I|NLRP1_uc010clh.2_Missense_Mutation_p.M967I	p.M967I	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			8	3456	-		Colorectal(1115;3.48e-05)	967			LRR 6.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.2901G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	8.466	0.856525	0.17106	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000345221;ENST00000537069	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	3.37	1.23	0.21249	.	0.819359	0.09939	N	0.736166	T	0.28896	0.0717	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.24186	0.099;0.001;0.049;0.002	B;B;B;B	0.22753	0.041;0.002;0.012;0.004	T	0.24297	-1.0164	10	0.59425	D	0.04	.	6.4749	0.22031	0.2074:0.5914:0.2012:0.0	.	233;967;967;967	F5H042;Q9C000;Q9C000-2;E9PE50	.;NALP1_HUMAN;.;.	I	967;967;967;967;233	ENSP00000442029:M967I;ENSP00000262467:M967I;ENSP00000269280:M967I;ENSP00000324366:M967I	ENSP00000262467:M967I	M	-	3	0	NLRP1	5380954	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.110000	0.15437	0.211000	0.20683	-1.045000	0.02358	ATG		0.622	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		14	26	0	0	0	0	14	26				
SLC13A5	284111	broad.mit.edu	37	17	6599185	6599185	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:6599185C>A	ENST00000433363.2	-	7	1148	c.915G>T	c.(913-915)gaG>gaT	p.E305D	SLC13A5_ENST00000293800.6_Missense_Mutation_p.E288D|SLC13A5_ENST00000573648.1_Missense_Mutation_p.E305D|SLC13A5_ENST00000381074.4_Missense_Mutation_p.E262D	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	305					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						GCTTCCGGTACTCCTCCTGCA	0.557																																						uc002gdj.2		NA																	0					0						c.(913-915)GAG>GAT		solute carrier family 13, member 5 isoform a							133.0	137.0	136.0					17																	6599185		2203	4300	6503	SO:0001583	missense	284111					integral to membrane	citrate transmembrane transporter activity	g.chr17:6599185C>A	AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.915G>T	17.37:g.6599185C>A	ENSP00000406220:p.Glu305Asp					SLC13A5_uc010vtf.1_Missense_Mutation_p.E305D|SLC13A5_uc010clq.2_Missense_Mutation_p.E262D|SLC13A5_uc002gdk.2_Missense_Mutation_p.E288D|SLC13A5_uc002gdl.1_Missense_Mutation_p.E287D	p.E305D	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN			7	1003	-			305					B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	ENST00000433363.2	37	c.915G>T	CCDS11079.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.636830	0.47049	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T;T	0.03635	3.86;3.86	5.29	0.755	0.18415	.	0.094859	0.64402	D	0.000001	T	0.07908	0.0198	L	0.57536	1.79	0.44104	D	0.996873	P;B;B;P;P	0.40144	0.572;0.343;0.238;0.572;0.704	P;B;P;B;P	0.49085	0.501;0.367;0.501;0.445;0.6	T	0.12656	-1.0539	10	0.44086	T	0.13	.	10.12	0.42614	0.0:0.5701:0.0:0.4299	.	305;262;262;288;305	B7ZLB4;F8W7N2;B7Z4P2;B3KXR0;Q86YT5	.;.;.;.;S13A5_HUMAN	D	305;305;262	ENSP00000406220:E305D;ENSP00000370464:E262D	ENSP00000293800:E305D	E	-	3	2	SLC13A5	6539909	1.000000	0.71417	0.979000	0.43373	0.609000	0.37215	1.085000	0.30840	0.018000	0.15052	-0.797000	0.03246	GAG		0.557	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219853.2	NM_177550		33	84	1	0	3.21e-22	3.5e-22	33	84				
ELP5	23587	broad.mit.edu	37	17	7156110	7156110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:7156110G>A	ENST00000396628.2	+	2	333	c.116G>A	c.(115-117)cGc>cAc	p.R39H	CTDNEP1_ENST00000318988.6_5'Flank|ELP5_ENST00000573657.1_Missense_Mutation_p.R39H|CTDNEP1_ENST00000573600.1_5'Flank|ELP5_ENST00000396627.2_Missense_Mutation_p.R39H|ELP5_ENST00000356683.2_Missense_Mutation_p.R39H|CTDNEP1_ENST00000572043.1_5'Flank|ELP5_ENST00000354429.2_Missense_Mutation_p.R39H|ELP5_ENST00000574993.1_Missense_Mutation_p.R39H|RP1-4G17.5_ENST00000577138.1_Intron|CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000574255.1_Missense_Mutation_p.R39H	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	39					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											TGGGAGGGGCGCAGTCTCTTG	0.587																																						uc002gfg.1		NA																	0					0						c.(115-117)CGC>CAC		S-phase 2 protein isoform 4							70.0	70.0	70.0					17																	7156110		2203	4300	6503	SO:0001583	missense	23587				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr17:7156110G>A	BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.116G>A	17.37:g.7156110G>A	ENSP00000379869:p.Arg39His					DULLARD_uc002gfd.2_5'Flank|DULLARD_uc002gfe.2_5'Flank|DULLARD_uc002gff.2_5'Flank|DULLARD_uc002gfc.2_5'Flank|C17orf81_uc002gfj.2_Missense_Mutation_p.R39H|C17orf81_uc010cmb.2_Missense_Mutation_p.R39H|C17orf81_uc002gfh.1_Missense_Mutation_p.R39H|C17orf81_uc002gfi.1_Missense_Mutation_p.R39H|C17orf81_uc002gfk.1_Missense_Mutation_p.R39H|C17orf81_uc002gfl.1_Missense_Mutation_p.R39H	p.R39H	NM_203415	NP_981960	Q8TE02	DERP6_HUMAN			3	223	+			39					A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	ENST00000396628.2	37	c.116G>A	CCDS11094.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.609032	0.87258	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.60672	0.99;0.99;0.99;0.17	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	M	0.68952	2.095	0.50632	D	0.999881	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.997;0.994;0.999;0.998	T	0.75379	-0.3338	10	0.87932	D	0	-15.3871	12.8382	0.57786	0.0:0.0:1.0:0.0	.	39;39;39;39	Q8TE02-2;Q8TE02-3;A8K1M5;Q8TE02	.;.;.;DERP6_HUMAN	H	39	ENSP00000346412:R39H;ENSP00000379869:R39H;ENSP00000379868:R39H;ENSP00000349111:R39H	ENSP00000346412:R39H	R	+	2	0	C17orf81	7096834	1.000000	0.71417	0.999000	0.59377	0.780000	0.44128	4.488000	0.60300	2.481000	0.83766	0.632000	0.83419	CGC		0.587	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440111.1	NM_015362		3	29	0	0	0	0	3	29				
ALOXE3	59344	broad.mit.edu	37	17	8006700	8006700	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:8006700T>C	ENST00000448843.2	-	15	2237	c.1897A>G	c.(1897-1899)Aac>Gac	p.N633D	ALOXE3_ENST00000318227.3_Missense_Mutation_p.N765D|ALOXE3_ENST00000380149.1_Missense_Mutation_p.N789D	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	633	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						CAGCTGATGTTCACTTCAGGG	0.557																																						uc010cnr.2		NA																	0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(1897-1899)AAC>GAC		arachidonate lipoxygenase 3 isoform 2							168.0	157.0	161.0					17																	8006700		2203	4300	6503	SO:0001583	missense	59344				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity	g.chr17:8006700T>C	AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1897A>G	17.37:g.8006700T>C	ENSP00000400581:p.Asn633Asp					ALOXE3_uc002gka.2_Missense_Mutation_p.N789D|ALOXE3_uc010vuo.1_Missense_Mutation_p.N765D	p.N633D	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN			15	2267	-			633			Lipoxygenase.		B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Missense_Mutation	SNP	ENST00000448843.2	37	c.1897A>G	CCDS11130.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.116545	0.77323	.	.	ENSG00000179148	ENST00000380149;ENST00000318227;ENST00000448843	D;D;D	0.89810	-2.57;-2.57;-2.57	5.04	5.04	0.67666	Lipoxygenase, C-terminal (3);	0.126407	0.64402	D	0.000001	D	0.88440	0.6437	L	0.49778	1.585	0.40639	D	0.981923	B;P;P	0.40282	0.13;0.711;0.711	B;P;P	0.45343	0.059;0.477;0.477	D	0.89117	0.3500	10	0.49607	T	0.09	-35.8157	14.182	0.65580	0.0:0.0:0.0:1.0	.	765;633;633	B7Z3W0;Q9BYJ1;B3KVD2	.;LOXE3_HUMAN;.	D	789;765;633	ENSP00000369494:N789D;ENSP00000314879:N765D;ENSP00000400581:N633D	ENSP00000314879:N765D	N	-	1	0	ALOXE3	7947425	0.977000	0.34250	1.000000	0.80357	0.995000	0.86356	2.140000	0.42159	2.240000	0.73641	0.533000	0.62120	AAC		0.557	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1			26	44	0	0	0	0	26	44				
MYH8	4626	broad.mit.edu	37	17	10301955	10301955	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:10301955G>A	ENST00000403437.2	-	30	4078	c.3984C>T	c.(3982-3984)gcC>gcT	p.A1328A	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1328					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)			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						GGGCGTTCTTGGCCTGCAGAA	0.507									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													uc002gmm.2		NA																	0				skin(6)|ovary(3)|breast(2)	11						c.(3982-3984)GCC>GCT		myosin, heavy chain 8, skeletal muscle,							97.0	94.0	95.0					17																	10301955		2203	4300	6503	SO:0001819	synonymous_variant	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.chr17:10301955G>A		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.3984C>T	17.37:g.10301955G>A						uc002gml.1_Intron	p.A1328A	NM_002472	NP_002463	P13535	MYH8_HUMAN			30	4079	-			1328			Potential.		Q14910	Silent	SNP	ENST00000403437.2	37	c.3984C>T	CCDS11153.1																																																																																				0.507	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		30	45	0	0	0	0	30	45				
DNAH9	1770	broad.mit.edu	37	17	11696943	11696943	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:11696943G>C	ENST00000262442.4	+	42	8253	c.8185G>C	c.(8185-8187)Gat>Cat	p.D2729H	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2729H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2729					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGATCTTTTTGATAAAATCCA	0.323																																						uc002gne.2		NA																	0				skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(8185-8187)GAT>CAT		dynein, axonemal, heavy chain 9 isoform 2							104.0	109.0	107.0					17																	11696943		2203	4299	6502	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11696943G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8185G>C	17.37:g.11696943G>C	ENSP00000262442:p.Asp2729His					DNAH9_uc010coo.2_Missense_Mutation_p.D2023H	p.D2729H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	42	8253	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2729					A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8185G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.593923	0.28445	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.40476	1.03;1.03	5.76	5.76	0.90799	.	0.124475	0.53938	D	0.000047	T	0.41971	0.1182	L	0.61036	1.89	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	T	0.21586	-1.0241	10	0.41790	T	0.15	.	13.202	0.59774	0.0723:0.0:0.9277:0.0	.	2729	Q9NYC9	DYH9_HUMAN	H	2729;2729;1311	ENSP00000262442:D2729H;ENSP00000414874:D2729H	ENSP00000262442:D2729H	D	+	1	0	DNAH9	11637668	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	6.522000	0.73783	2.713000	0.92767	0.655000	0.94253	GAT		0.323	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		13	36	0	0	0	0	13	36				
LRRC48	83450	broad.mit.edu	37	17	17891328	17891328	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:17891328G>A	ENST00000399187.1	+	5	578	c.360G>A	c.(358-360)cgG>cgA	p.R120R	LRRC48_ENST00000399182.1_Silent_p.R120R|LRRC48_ENST00000411504.2_Silent_p.R120R|LRRC48_ENST00000313838.8_Silent_p.R120R|LRRC48_ENST00000584166.1_Silent_p.R120R	NM_031294.3	NP_112584.3	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	120						cytoplasm (GO:0005737)				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					TCAACAACCGGATCTCCAAGA	0.557																																						uc010vxd.1		NA																	0				pancreas(1)	1						c.(358-360)CGG>CGA		leucine rich repeat containing 48 isoform a							72.0	74.0	73.0					17																	17891328		2041	4182	6223	SO:0001819	synonymous_variant	83450					cytoplasm		g.chr17:17891328G>A	AK093317	CCDS45622.1, CCDS45623.1	17p11.2	2014-07-18			ENSG00000171962	ENSG00000171962			25384	protein-coding gene	gene with protein product						11997338, 23354437	Standard	NM_001130090		Approved	DKFZP586M1120	uc021trk.1	Q9H069	OTTHUMG00000059355	ENST00000399187.1:c.360G>A	17.37:g.17891328G>A						LRRC48_uc002gsa.2_Silent_p.R120R|LRRC48_uc010vxc.1_Silent_p.R120R|LRRC48_uc002gsb.2_Silent_p.R120R	p.R120R	NM_001130090	NP_001123562	Q9H069	LRC48_HUMAN			6	739	+	all_neural(463;0.228)		120			LRR 4.		A8KAE6|Q86SF9|Q86W73|Q8IWG0	Silent	SNP	ENST00000399187.1	37	c.360G>A	CCDS45622.1																																																																																				0.557	LRRC48-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131945.3	NM_031294		4	45	0	0	0	0	4	45				
PTRF	284119	broad.mit.edu	37	17	40574759	40574759	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:40574759G>A	ENST00000357037.5	-	1	776	c.357C>T	c.(355-357)gtC>gtT	p.V119V		NM_012232.5	NP_036364.2			polymerase I and transcript release factor											breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCTTCACGTTGACGCTGACCT	0.642																																						uc002hzo.2		NA																	0				breast(1)	1						c.(355-357)GTC>GTT		polymerase I and transcript release factor							41.0	28.0	32.0					17																	40574759		2203	4300	6503	SO:0001819	synonymous_variant	284119				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	g.chr17:40574759G>A	AF000421	CCDS11425.1	17q21.31	2011-04-20				ENSG00000177469			9688	protein-coding gene	gene with protein product		603198				9582279	Standard	NM_012232		Approved	cavin-1, CAVIN1	uc002hzo.3	Q6NZI2		ENST00000357037.5:c.357C>T	17.37:g.40574759G>A						PTRF_uc010wgi.1_Silent_p.V101V	p.V119V	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.193)	1	516	-		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)	119						Silent	SNP	ENST00000357037.5	37	c.357C>T	CCDS11425.1																																																																																				0.642	PTRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449938.1	NM_012232		3	12	0	0	0	0	3	12				
TUBG2	27175	broad.mit.edu	37	17	40812702	40812702	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:40812702G>A	ENST00000251412.7	+	4	575	c.376G>A	c.(376-378)Gca>Aca	p.A126T		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	126					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|pericentriolar material (GO:0000242)|spindle microtubule (GO:0005876)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		AGACCGAGAAGCAGATGGAAG	0.507																																						uc010wgr.1		NA																	0				ovary(1)	1						c.(376-378)GCA>ACA		tubulin, gamma 2							101.0	94.0	97.0					17																	40812702		2203	4300	6503	SO:0001583	missense	27175				G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity	g.chr17:40812702G>A	AF225971	CCDS32658.1	17q21.2	2014-09-04			ENSG00000037042	ENSG00000037042		"""Tubulins"""	12419	protein-coding gene	gene with protein product		605785					Standard	NM_016437		Approved		uc010wgr.2	Q9NRH3	OTTHUMG00000180640	ENST00000251412.7:c.376G>A	17.37:g.40812702G>A	ENSP00000251412:p.Ala126Thr					TUBG2_uc002iaq.2_5'UTR|TUBG2_uc002iar.2_5'UTR|TUBG2_uc002ias.2_5'UTR|TUBG2_uc002iap.2_5'UTR	p.A126T	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.141)	4	632	+		Breast(137;0.00116)	126					A6NDI4|Q32NB2	Missense_Mutation	SNP	ENST00000251412.7	37	c.376G>A	CCDS32658.1	.	.	.	.	.	.	.	.	.	.	G	33	5.246123	0.95272	.	.	ENSG00000037042	ENST00000251412	T	0.69435	-0.4	4.68	4.68	0.58851	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	D	0.84266	0.5434	M	0.88775	2.98	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	D	0.87638	0.2520	10	0.87932	D	0	-12.8258	18.1544	0.89686	0.0:0.0:1.0:0.0	.	126	Q9NRH3	TBG2_HUMAN	T	126	ENSP00000251412:A126T	ENSP00000251412:A126T	A	+	1	0	TUBG2	38066228	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.381000	0.97205	2.599000	0.87857	0.561000	0.74099	GCA		0.507	TUBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452326.1	NM_016437		10	11	0	0	0	0	10	11				
DBF4B	80174	broad.mit.edu	37	17	42786685	42786685	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:42786685C>T	ENST00000315005.3	+	2	171	c.33C>T	c.(31-33)ctC>ctT	p.L11L	DBF4B_ENST00000526915.1_Intron|DBF4B_ENST00000398338.3_Silent_p.L11L|DBF4B_ENST00000393547.2_Silent_p.L11L	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 zinc finger B	11					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of protein kinase activity (GO:0045860)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACGATTGCCTCGAGCTGGAGA	0.562																																						uc002ihf.2		NA																	0					0						c.(31-33)CTC>CTT		DBF4 homolog B isoform 1							334.0	326.0	329.0					17																	42786685		2203	4300	6503	SO:0001819	synonymous_variant	80174				cell cycle	nucleus	nucleic acid binding|zinc ion binding	g.chr17:42786685C>T	AF465820	CCDS11485.1, CCDS45706.1, CCDS45706.2	17q21.31	2014-02-17	2014-02-17		ENSG00000161692	ENSG00000161692		"""Zinc fingers, DBF-type"""	17883	protein-coding gene	gene with protein product	"""chiffon homolog B (Drosophila)"", ""zinc finger, DBF-type containing 1B"""	611661	"""DBF4 homolog B (S. cerevisiae)"""			15668232	Standard	NM_145663		Approved	FLJ13087, DRF1, ASKL1, chifb, ZDBF1B	uc002ihf.3	Q8NFT6	OTTHUMG00000165717	ENST00000315005.3:c.33C>T	17.37:g.42786685C>T						DBF4B_uc002ihd.1_Silent_p.L11L|DBF4B_uc010wjb.1_RNA|DBF4B_uc002ihe.2_5'UTR|DBF4B_uc010wjc.1_5'UTR|DBF4B_uc002ihg.2_5'UTR	p.L11L	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN			2	246	+		Prostate(33;0.0322)	11					D3DX56|Q8TEX0|Q96B19|Q9H912	Silent	SNP	ENST00000315005.3	37	c.33C>T	CCDS11485.1																																																																																				0.562	DBF4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385930.1	NM_025104		102	244	0	0	0	0	102	244				
TMC8	147138	broad.mit.edu	37	17	76134712	76134712	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:76134712G>A	ENST00000318430.5	+	14	2096	c.1722G>A	c.(1720-1722)gtG>gtA	p.V574V	TMC8_ENST00000589691.1_Silent_p.V351V|TMC8_ENST00000591144.1_3'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	574					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CCTGGCAAGTGGTCCCGGAGC	0.657																																						uc002jup.2		NA																	0					0						c.(1720-1722)GTG>GTA		transmembrane channel-like 8							69.0	77.0	74.0					17																	76134712		2203	4300	6503	SO:0001819	synonymous_variant	147138	Epidermodysplasia_Verruciformis_Familial_Clustering_of				endoplasmic reticulum membrane|integral to membrane		g.chr17:76134712G>A	AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.1722G>A	17.37:g.76134712G>A						TMC8_uc002juq.2_Silent_p.V351V|TMC8_uc002jur.1_Nonsense_Mutation_p.W24*	p.V574V	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)		14	2104	+			574			Lumenal (Potential).		Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Silent	SNP	ENST00000318430.5	37	c.1722G>A	CCDS32749.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.386271	0.25031	.	.	ENSG00000167895	ENST00000301627	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	T	0.48205	0.1487	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34725	-0.9817	5	0.13853	T	0.58	-26.0113	9.2823	0.37735	0.101:0.0:0.899:0.0	.	.	.	.	S	231	.	ENSP00000301627:G231S	G	+	1	0	TMC8	73646307	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.797000	0.47877	2.225000	0.72522	0.591000	0.81541	GGT		0.657	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436900.3			27	75	0	0	0	0	27	75				
RPTOR	57521	broad.mit.edu	37	17	78882729	78882729	+	Splice_Site	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:78882729G>A	ENST00000306801.3	+	21	2882	c.2520G>A	c.(2518-2520)aaG>aaA	p.K840K	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Splice_Site_p.K682K	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	840					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCGCCTACAAGGTACGTGCCG	0.587																																						uc002jyt.1		NA																	0				lung(4)|urinary_tract(1)|ovary(1)	6						c.(2518-2520)AAG>AAA		raptor isoform 1							133.0	133.0	133.0					17																	78882729		2203	4300	6503	SO:0001630	splice_region_variant	57521				cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	g.chr17:78882729G>A		CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2520+1G>A	17.37:g.78882729G>A						RPTOR_uc010wug.1_Silent_p.K682K	p.K840K	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN			21	3325	+			840					B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Silent	SNP	ENST00000306801.3	37	c.2520G>A	CCDS11773.1																																																																																				0.587	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	Silent	35	103	0	0	0	0	35	103				
TBCD	6904	broad.mit.edu	37	17	80863819	80863819	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:80863819G>A	ENST00000355528.4	+	20	1942	c.1812G>A	c.(1810-1812)ccG>ccA	p.P604P	TBCD_ENST00000539345.2_Silent_p.P604P|TBCD_ENST00000397466.2_Silent_p.P218P	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	604					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CAGTCTTCCCGAGGCTGCTGT	0.607																																						uc002kfz.2		NA																	0					0						c.(1810-1812)CCG>CCA		beta-tubulin cofactor D							74.0	78.0	76.0					17																	80863819		2125	4227	6352	SO:0001819	synonymous_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80863819G>A	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1812G>A	17.37:g.80863819G>A						TBCD_uc002kfx.1_Silent_p.P587P|TBCD_uc002kfy.1_Silent_p.P604P|TBCD_uc002kgb.1_5'UTR	p.P604P	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		20	1942	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	604			HEAT 3.		O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	ENST00000355528.4	37	c.1812G>A	CCDS45818.1																																																																																				0.607	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993		8	10	0	0	0	0	8	10				
USP14	9097	broad.mit.edu	37	18	202939	202939	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:202939C>T	ENST00000261601.7	+	11	1027	c.936C>T	c.(934-936)atC>atT	p.I312I	USP14_ENST00000582707.1_Silent_p.I277I|USP14_ENST00000383589.2_Silent_p.I266I|USP14_ENST00000400266.3_Silent_p.I301I	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	312	USP.				negative regulation of endopeptidase activity (GO:0010951)|protein deubiquitination (GO:0016579)|regulation of chemotaxis (GO:0050920)|regulation of proteasomal protein catabolic process (GO:0061136)|synaptic transmission (GO:0007268)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|synapse (GO:0045202)	cysteine-type endopeptidase activity (GO:0004197)|endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)|tRNA guanylyltransferase activity (GO:0008193)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CCTTGTATATCAAATCTGTAA	0.333																																						uc002kkf.1		NA																	0				ovary(2)	2						c.(934-936)ATC>ATT		ubiquitin specific protease 14 isoform a							82.0	80.0	81.0					18																	202939		2203	4300	6503	SO:0001819	synonymous_variant	9097				regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr18:202939C>T	U30888	CCDS32780.1, CCDS32781.1	18p11.32	2006-10-06	2005-08-08			ENSG00000101557		"""Ubiquitin-specific peptidases"""	12612	protein-coding gene	gene with protein product		607274	"""ubiquitin specific protease 14 (tRNA-guanine transglycosylase)"""			12838346	Standard	NM_001037334		Approved	TGT	uc002kkf.1	P54578		ENST00000261601.7:c.936C>T	18.37:g.202939C>T						USP14_uc002kkg.1_Silent_p.I277I|USP14_uc010wyr.1_Silent_p.I301I	p.I312I	NM_005151	NP_005142	P54578	UBP14_HUMAN			11	1152	+		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)	312					J3QRZ5|Q53XY5	Silent	SNP	ENST00000261601.7	37	c.936C>T	CCDS32780.1																																																																																				0.333	USP14-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440305.3	NM_005151		11	33	0	0	0	0	11	33				
DLGAP1	9229	broad.mit.edu	37	18	3880020	3880020	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:3880020C>T	ENST00000315677.3	-	4	644	c.49G>A	c.(49-51)Gac>Aac	p.D17N	DLGAP1_ENST00000515196.2_Missense_Mutation_p.D17N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Missense_Mutation_p.D17N|DLGAP1_ENST00000581527.1_Missense_Mutation_p.D17N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	17					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CAGGCCGAGTCGCAGGTGACC	0.662																																						uc002kmf.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(49-51)GAC>AAC		discs large homolog-associated protein 1 isoform							38.0	32.0	34.0					18																	3880020		2203	4298	6501	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3880020C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.49G>A	18.37:g.3880020C>T	ENSP00000316377:p.Asp17Asn					DLGAP1_uc010wyz.1_Missense_Mutation_p.D17N|DLGAP1_uc002kmk.2_Missense_Mutation_p.D17N|uc002kml.1_Intron	p.D17N	NM_004746	NP_004737	O14490	DLGP1_HUMAN			1	116	-		Colorectal(8;0.0257)	17					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.49G>A	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967197	0.74131	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.13901	2.56;2.55	5.8	5.8	0.92144	.	0.097108	0.64402	D	0.000001	T	0.26268	0.0641	M	0.78637	2.42	0.80722	D	1	P;P;P	0.49358	0.923;0.891;0.61	B;B;B	0.43386	0.238;0.418;0.149	T	0.03773	-1.1005	10	0.62326	D	0.03	-10.6769	20.0706	0.97721	0.0:1.0:0.0:0.0	.	17;17;17	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	N	17	ENSP00000316377:D17N;ENSP00000445973:D17N	ENSP00000316377:D17N	D	-	1	0	DLGAP1	3870020	1.000000	0.71417	0.270000	0.24601	0.769000	0.43574	6.057000	0.71119	2.744000	0.94065	0.655000	0.94253	GAC		0.662	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			14	29	0	0	0	0	14	29				
ASXL3	80816	broad.mit.edu	37	18	31325297	31325297	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:31325297A>C	ENST00000269197.5	+	12	5485	c.5485A>C	c.(5485-5487)Aag>Cag	p.K1829Q		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1829					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCACCCCAAAAAGAGAGTAGC	0.483																																						uc010dmg.1		NA																	0				ovary(2)|pancreas(1)	3						c.(5485-5487)AAG>CAG		additional sex combs like 3							160.0	159.0	159.0					18																	31325297		1924	4120	6044	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325297A>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5485A>C	18.37:g.31325297A>C	ENSP00000269197:p.Lys1829Gln					ASXL3_uc002kxq.2_Missense_Mutation_p.K1536Q	p.K1829Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN			12	5540	+			1829					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5485A>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	A	18.23	3.578062	0.65878	.	.	ENSG00000141431	ENST00000269197	T	0.23950	1.88	5.91	5.91	0.95273	.	.	.	.	.	T	0.28699	0.0711	L	0.27053	0.805	0.41478	D	0.988145	D	0.63880	0.993	P	0.49637	0.617	T	0.03534	-1.1027	9	0.66056	D	0.02	.	16.3351	0.83056	1.0:0.0:0.0:0.0	.	1829	Q9C0F0	ASXL3_HUMAN	Q	1829	ENSP00000269197:K1829Q	ENSP00000269197:K1829Q	K	+	1	0	ASXL3	29579295	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.744000	0.74854	2.262000	0.75019	0.528000	0.53228	AAG		0.483	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			44	173	0	0	0	0	44	173				
SMAD4	4089	broad.mit.edu	37	18	48584814	48584814	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:48584814C>T	ENST00000342988.3	+	7	1430	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	SMAD4_ENST00000398417.2_Missense_Mutation_p.P298S|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	298	SAD.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GCCGCCCCATCCCGGACATTA	0.428																																						uc010xdp.1		NA																	38	Whole gene deletion(36)|Unknown(2)	p.0?(35)|p.?(2)	pancreas(26)|stomach(3)|breast(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(892-894)CCC>TCC		mothers against decapentaplegic homolog 4							94.0	86.0	89.0					18																	48584814		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584814C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.892C>T	18.37:g.48584814C>T	ENSP00000341551:p.Pro298Ser					SMAD4_uc002lfb.3_Missense_Mutation_p.P143S	p.P298S	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	7	1430	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	298			SAD.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.892C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431051	0.43122	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.97066	-4.23;-4.23	6.17	6.17	0.99709	SMAD/FHA domain (1);	0.097462	0.64402	D	0.000001	D	0.95522	0.8545	L	0.50333	1.59	0.80722	D	1	B	0.20671	0.047	B	0.15870	0.014	D	0.91562	0.5265	10	0.36615	T	0.2	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	298	Q13485	SMAD4_HUMAN	S	298	ENSP00000341551:P298S;ENSP00000381452:P298S	ENSP00000341551:P298S	P	+	1	0	SMAD4	46838812	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.564000	0.53791	2.941000	0.99782	0.655000	0.94253	CCC		0.428	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		20	79	0	0	0	0	20	79				
FECH	2235	broad.mit.edu	37	18	55221509	55221509	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:55221509G>C	ENST00000262093.5	-	9	1211	c.1060C>G	c.(1060-1062)Caa>Gaa	p.Q354E	FECH_ENST00000382873.3_Missense_Mutation_p.Q360E	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	354					cellular response to dexamethasone stimulus (GO:0071549)|cholesterol metabolic process (GO:0008203)|detection of UV (GO:0009589)|erythrocyte differentiation (GO:0030218)|generation of precursor metabolites and energy (GO:0006091)|heme biosynthetic process (GO:0006783)|iron ion homeostasis (GO:0055072)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|regulation of gene expression (GO:0010468)|regulation of hemoglobin biosynthetic process (GO:0046984)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insecticide (GO:0017085)|response to lead ion (GO:0010288)|response to light stimulus (GO:0009416)|response to methylmercury (GO:0051597)|response to platinum ion (GO:0070541)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle assembly (GO:0034379)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|ferrochelatase activity (GO:0004325)|ferrous iron binding (GO:0008198)|heme binding (GO:0020037)|iron-responsive element binding (GO:0030350)	p.Q360E(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GCTAAAACTTGAGAGTACTCG	0.413																																						uc002lgq.3		NA																	1	Substitution - Missense(1)	p.L354L(1)	lung(1)	central_nervous_system(1)	1						c.(1060-1062)CAA>GAA		ferrochelatase isoform b precursor							237.0	232.0	234.0					18																	55221509		2203	4300	6503	SO:0001583	missense	2235				generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding	g.chr18:55221509G>C	D00726	CCDS11964.1, CCDS32836.1	18q21.2-q21.3	2010-05-11	2010-05-11		ENSG00000066926	ENSG00000066926	4.99.1.1		3647	protein-coding gene	gene with protein product	"""protoporphyria"""	612386	"""ferrochelatase (protoporphyria)"""			1838349	Standard	NM_001012515		Approved		uc002lgp.4	P22830	OTTHUMG00000132740	ENST00000262093.5:c.1060C>G	18.37:g.55221509G>C	ENSP00000262093:p.Gln354Glu					FECH_uc002lgp.3_Missense_Mutation_p.Q360E|FECH_uc002lgr.3_Missense_Mutation_p.Q212E	p.Q354E	NM_000140	NP_000131	P22830	HEMH_HUMAN			9	1177	-		Colorectal(73;0.227)	354					A8KA72|Q8IXN1|Q8NAN0	Missense_Mutation	SNP	ENST00000262093.5	37	c.1060C>G	CCDS11964.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899127	0.33535	.	.	ENSG00000066926	ENST00000262093;ENST00000382873	D;D	0.96491	-4.03;-4.03	6.17	4.34	0.51931	.	0.143065	0.64402	D	0.000004	D	0.85915	0.5808	N	0.01146	-0.985	0.49798	D	0.999823	B;B	0.16603	0.017;0.018	B;B	0.12156	0.007;0.006	T	0.80939	-0.1158	10	0.02654	T	1	-9.413	15.2972	0.73919	0.0:0.0:0.744:0.256	.	354;360	P22830;P22830-2	HEMH_HUMAN;.	E	354;360	ENSP00000262093:Q354E;ENSP00000372326:Q360E	ENSP00000262093:Q354E	Q	-	1	0	FECH	53372507	1.000000	0.71417	0.075000	0.20258	0.611000	0.37282	6.157000	0.71846	0.872000	0.35775	-0.182000	0.12963	CAA		0.413	FECH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256098.1			55	224	0	0	0	0	55	224				
CCBE1	147372	broad.mit.edu	37	18	57147439	57147439	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:57147439G>A	ENST00000439986.4	-	3	281	c.244C>T	c.(244-246)Ctt>Ttt	p.L82F	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	82					lymphangiogenesis (GO:0001946)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of protein processing (GO:0010954)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|positive regulation vascular endothelial growth factor production (GO:0010575)|sprouting angiogenesis (GO:0002040)|venous blood vessel morphogenesis (GO:0048845)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|protease binding (GO:0002020)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CATTGTCCAAGAACAAATTTA	0.284																																					NSCLC(137;1340 1860 15773 39604 51087)|Esophageal Squamous(139;339 1777 2926 19691 38524)	uc002lib.2		NA																	0				skin(2)|ovary(1)	3						c.(244-246)CTT>TTT		collagen and calcium binding EGF domains 1							50.0	52.0	51.0					18																	57147439		2202	4292	6494	SO:0001583	missense	147372				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding	g.chr18:57147439G>A	AB075863	CCDS32838.1	18q21.32	2005-01-18				ENSG00000183287			29426	protein-coding gene	gene with protein product		612753				11853319, 12975309	Standard	NM_133459		Approved	FLJ30681, KIAA1983	uc002lib.3	Q6UXH8		ENST00000439986.4:c.244C>T	18.37:g.57147439G>A	ENSP00000404464:p.Leu82Phe						p.L82F	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN			3	314	-		Colorectal(73;0.175)	82					Q6MZX5|Q86SS2|Q8TF19	Missense_Mutation	SNP	ENST00000439986.4	37	c.244C>T	CCDS32838.1	.	.	.	.	.	.	.	.	.	.	G	18.90	3.722180	0.68959	.	.	ENSG00000183287	ENST00000439986	D	0.85411	-1.98	5.62	4.75	0.60458	.	0.068598	0.64402	N	0.000012	T	0.76271	0.3964	N	0.24115	0.695	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	T	0.72268	-0.4343	10	0.59425	D	0.04	-12.4408	12.0837	0.53686	0.0828:0.0:0.9172:0.0	.	82	Q6UXH8	CCBE1_HUMAN	F	82	ENSP00000404464:L82F	ENSP00000404464:L82F	L	-	1	0	CCBE1	55298419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.335000	0.59298	1.369000	0.46134	0.655000	0.94253	CTT		0.284	CCBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449685.2	NM_133459		27	24	0	0	0	0	27	24				
SERPINB12	89777	broad.mit.edu	37	18	61234050	61234050	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:61234050T>C	ENST00000269491.1	+	7	1024	c.1024T>C	c.(1024-1026)Tca>Cca	p.S342P	SERPINB12_ENST00000382768.1_Missense_Mutation_p.S362P	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	342					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTGTACTTGTCAAAAATTAT	0.448																																						uc010xen.1		NA																	0					0						c.(1024-1026)TCA>CCA		serine (or cysteine) proteinase inhibitor, clade							109.0	112.0	111.0					18																	61234050		2203	4300	6503	SO:0001583	missense	89777				negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	g.chr18:61234050T>C	AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.1024T>C	18.37:g.61234050T>C	ENSP00000269491:p.Ser342Pro					SERPINB12_uc010xeo.1_Missense_Mutation_p.S362P	p.S342P	NM_080474	NP_536722	Q96P63	SPB12_HUMAN			7	1024	+			342					Q3SYB4	Missense_Mutation	SNP	ENST00000269491.1	37	c.1024T>C	CCDS11984.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.340002	0.60963	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.86432	-2.12;-2.12	5.81	5.81	0.92471	Serpin domain (3);	0.109713	0.41396	D	0.000897	D	0.95809	0.8636	H	0.96889	3.9	0.49389	D	0.999784	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.969	D	0.97243	0.9892	10	0.87932	D	0	.	16.1623	0.81730	0.0:0.0:0.0:1.0	.	362;342	Q3SYB4;Q96P63	.;SPB12_HUMAN	P	342;362	ENSP00000269491:S342P;ENSP00000372218:S362P	ENSP00000269491:S342P	S	+	1	0	SERPINB12	59385030	1.000000	0.71417	0.357000	0.25798	0.129000	0.20672	8.005000	0.88553	2.223000	0.72356	0.533000	0.62120	TCA		0.448	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256197.1	NM_080474		32	136	0	0	0	0	32	136				
CREB3L3	84699	broad.mit.edu	37	19	4171739	4171739	+	Missense_Mutation	SNP	G	G	A	rs142789769	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:4171739G>A	ENST00000078445.2	+	10	1306	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	CREB3L3_ENST00000602257.1_Missense_Mutation_p.E385K|CREB3L3_ENST00000252587.3_Silent_p.P275P|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E386K|CREB3L3_ENST00000602147.1_3'UTR	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	387					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|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 positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCCGACCCGAGGCTGACAC	0.632													G|||	4	0.000798722	0.003	0.0	5008	,	,		15402	0.0		0.0	False		,,,				2504	0.0					uc002lzl.2		NA																	0				ovary(1)|skin(1)	2						c.(1159-1161)GAG>AAG		cAMP responsive element binding protein 3-like		G	LYS/GLU	11,4393		0,11,2191	49.0	61.0	57.0		1159	0.9	0.0	19	dbSNP_134	57	0,8588		0,0,4294	yes	missense	CREB3L3	NM_032607.1	56	0,11,6485	AA,AG,GG		0.0,0.2498,0.0847	benign	387/462	4171739	11,12981	2202	4294	6496	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4171739G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.1159G>A	19.37:g.4171739G>A	ENSP00000078445:p.Glu387Lys					CREB3L3_uc002lzm.2_Missense_Mutation_p.E377K|CREB3L3_uc010xib.1_Missense_Mutation_p.E376K|CREB3L3_uc010xic.1_3'UTR	p.E387K	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1275	+			387			Lumenal (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.1159G>A	CCDS12121.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	7.206	0.594362	0.13875	0.002498	0.0	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.84223	-1.82	3.18	0.871	0.19107	.	42.668800	0.00166	N	0.000000	T	0.65015	0.2651	N	0.13043	0.29	0.09310	N	0.999999	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.06405	0.001;0.002;0.001	T	0.58064	-0.7702	10	0.10111	T	0.7	-0.8421	5.7021	0.17887	0.2295:0.0:0.7705:0.0	.	385;386;387	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	K	387;345	ENSP00000078445:E387K	ENSP00000078445:E387K	E	+	1	0	CREB3L3	4122739	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.090000	0.11163	0.284000	0.22305	0.561000	0.74099	GAG		0.632	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		42	76	0	0	0	0	42	76				
MYO1F	4542	broad.mit.edu	37	19	8619446	8619446	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:8619446C>T	ENST00000338257.8	-	4	508	c.241G>A	c.(241-243)Gag>Aag	p.E81K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	81	Myosin motor.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGGGATTCTCATACTGGGCC	0.617																																						uc002mkg.2		NA																	0				ovary(2)|skin(1)	3						c.(241-243)GAG>AAG		myosin IF							103.0	102.0	102.0					19																	8619446		1990	4163	6153	SO:0001583	missense	4542					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:8619446C>T	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.241G>A	19.37:g.8619446C>T	ENSP00000344871:p.Glu81Lys					MYO1F_uc002mkh.2_Missense_Mutation_p.E81K|MYO1F_uc010xkf.1_Missense_Mutation_p.E81K	p.E81K	NM_012335	NP_036467	O00160	MYO1F_HUMAN			4	355	-			81			Myosin head-like.		Q8WWN7	Missense_Mutation	SNP	ENST00000338257.8	37	c.241G>A	CCDS42494.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779305	0.90195	.	.	ENSG00000142347	ENST00000305795;ENST00000338257	D	0.91464	-2.85	4.16	4.16	0.48862	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.95755	0.8619	M	0.89163	3.01	0.80722	D	1	D;D;D	0.89917	0.995;1.0;1.0	D;D;D	0.85130	0.987;0.992;0.997	D	0.96608	0.9450	10	0.87932	D	0	.	15.1771	0.72920	0.0:1.0:0.0:0.0	.	81;81;81	B4DVP3;B0I1T1;O00160	.;.;MYO1F_HUMAN	K	126;81	ENSP00000344871:E81K	ENSP00000304899:E126K	E	-	1	0	MYO1F	8525446	1.000000	0.71417	0.974000	0.42286	0.818000	0.46254	7.515000	0.81761	2.165000	0.68154	0.455000	0.32223	GAG		0.617	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342716.2			23	47	0	0	0	0	23	47				
MUC16	94025	broad.mit.edu	37	19	9024166	9024166	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:9024166G>A	ENST00000397910.4	-	18	37309	c.37106C>T	c.(37105-37107)tCa>tTa	p.S12369L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12371					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)				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						TGGAGTCCCTGAGGTTCTGAG	0.473																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37105-37107)TCA>TTA		mucin 16							75.0	72.0	73.0					19																	9024166		1904	4120	6024	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9024166G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37106C>T	19.37:g.9024166G>A	ENSP00000381008:p.Ser12369Leu						p.S12369L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			18	37310	-			12371			Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.37106C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	9.737	1.163746	0.21538	.	.	ENSG00000181143	ENST00000397910	T	0.02890	4.12	1.58	1.58	0.23477	.	.	.	.	.	T	0.04363	0.0120	L	0.52573	1.65	.	.	.	D	0.55172	0.97	P	0.46275	0.51	T	0.28459	-1.0043	8	0.87932	D	0	.	6.5626	0.22495	0.0:0.0:1.0:0.0	.	12369	B5ME49	.	L	12369	ENSP00000381008:S12369L	ENSP00000381008:S12369L	S	-	2	0	MUC16	8885166	0.003000	0.15002	0.002000	0.10522	0.035000	0.12851	1.386000	0.34419	1.157000	0.42530	0.205000	0.17691	TCA		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		5	14	0	0	0	0	5	14				
MUC16	94025	broad.mit.edu	37	19	9056817	9056817	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:9056817G>A	ENST00000397910.4	-	3	30832	c.30629C>T	c.(30628-30630)tCa>tTa	p.S10210L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10212	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				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						GTCTGGGGATGATGTTTTTGC	0.468																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(30628-30630)TCA>TTA		mucin 16							130.0	128.0	129.0					19																	9056817		1951	4161	6112	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9056817G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.30629C>T	19.37:g.9056817G>A	ENSP00000381008:p.Ser10210Leu						p.S10210L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	30833	-			10212			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.30629C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.235	0.600087	0.13939	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	3.14	0.885	0.19188	.	.	.	.	.	T	0.02571	0.0078	L	0.34521	1.04	.	.	.	B	0.21381	0.055	B	0.18871	0.023	T	0.29088	-1.0023	8	0.87932	D	0	.	4.7225	0.12926	0.3369:0.0:0.6631:0.0	.	10210	B5ME49	.	L	10210	ENSP00000381008:S10210L	ENSP00000381008:S10210L	S	-	2	0	MUC16	8917817	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.098000	0.15189	0.289000	0.22422	0.467000	0.42956	TCA		0.468	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	48	0	0	0	0	11	48				
SMARCA4	6597	broad.mit.edu	37	19	11135091	11135091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:11135091G>A	ENST00000429416.3	+	22	3339	c.3058G>A	c.(3058-3060)Gat>Aat	p.D1020N	SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020N|SMARCA4_ENST00000358026.2_Missense_Mutation_p.D1020N	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1020					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACTGATGGCTCCGA	0.627			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(3058-3060)GAT>AAT		SWI/SNF-related matrix-associated							73.0	59.0	64.0					19																	11135091		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11135091G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3058G>A	19.37:g.11135091G>A	ENSP00000395654:p.Asp1020Asn					SMARCA4_uc010dxp.2_Missense_Mutation_p.D1020N|SMARCA4_uc010dxo.2_Missense_Mutation_p.D1020N|SMARCA4_uc002mqg.1_Missense_Mutation_p.D1020N|SMARCA4_uc010dxq.2_Missense_Mutation_p.D1020N|SMARCA4_uc010dxr.2_Missense_Mutation_p.D1020N|SMARCA4_uc002mqj.3_Missense_Mutation_p.D1020N|SMARCA4_uc010dxs.2_Missense_Mutation_p.D1020N|SMARCA4_uc010dxt.1_Missense_Mutation_p.D240N|SMARCA4_uc002mqh.3_Missense_Mutation_p.D143N|SMARCA4_uc002mqi.1_Missense_Mutation_p.D223N	p.D1020N	NM_003072	NP_003063	P51532	SMCA4_HUMAN			21	3342	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1020					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.3058G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.528531	0.85706	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.76	4.76	0.60689	SNF2-related (1);	0.000000	0.85682	D	0.000000	T	0.77651	0.4162	N	0.16708	0.43	0.58432	D	0.999994	B;B;B;B;B;B;B;B	0.33044	0.222;0.118;0.395;0.024;0.11;0.001;0.395;0.395	B;B;B;B;B;B;P;P	0.46026	0.38;0.261;0.329;0.103;0.196;0.014;0.501;0.501	T	0.79967	-0.1580	10	0.62326	D	0.03	-36.5944	16.6873	0.85312	0.0:0.0:1.0:0.0	.	1020;1020;1020;1020;1020;240;1020;1020	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	N	1020;1020;1084;1020;1020;1020;1020;1020	ENSP00000395654:D1020N;ENSP00000350720:D1020N;ENSP00000343896:D1020N;ENSP00000445036:D1020N;ENSP00000392837:D1020N;ENSP00000397783:D1020N;ENSP00000414727:D1020N	ENSP00000343896:D1020N	D	+	1	0	SMARCA4	10996091	1.000000	0.71417	0.933000	0.37362	0.503000	0.33858	9.411000	0.97342	2.468000	0.83385	0.655000	0.94253	GAT		0.627	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		15	26	0	0	0	0	15	26				
NDUFA13	51079	broad.mit.edu	37	19	19637028	19637028	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:19637028C>G	ENST00000507754.4	+	2	616	c.132C>G	c.(130-132)atC>atG	p.I44M	NDUFA13_ENST00000503283.1_Missense_Mutation_p.I44M|NDUFA13_ENST00000512771.3_Missense_Mutation_p.I44M|YJEFN3_ENST00000436027.5_5'Flank|YJEFN3_ENST00000608404.1_Missense_Mutation_p.I44M|CTC-260F20.3_ENST00000586674.1_3'UTR|YJEFN3_ENST00000514277.4_5'Flank|NDUFA13_ENST00000252576.5_Missense_Mutation_p.I127M|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.I44M|NDUFA13_ENST00000428459.2_Missense_Mutation_p.I44M			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	44					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GAACCCTGATCTACGGGCACT	0.642																																						uc010xqy.1		NA																	0					0						c.(379-381)ATC>ATG		NADH dehydrogenase (ubiquinone) 1 alpha	NADH(DB00157)						81.0	66.0	71.0					19																	19637028		2203	4300	6503	SO:0001583	missense	51079				apoptotic nuclear change|induction of apoptosis by extracellular signals|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|negative regulation of translation|protein import into nucleus|reactive oxygen species metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain complex I|nucleoplasm	ATP binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr19:19637028C>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	ENST00000507754.4:c.132C>G	19.37:g.19637028C>G	ENSP00000423673:p.Ile44Met					NDUFA13_uc002nms.2_Missense_Mutation_p.I127M|NDUFA13_uc010xqx.1_Missense_Mutation_p.I127M|YJEFN3_uc002nmt.1_5'Flank|YJEFN3_uc010ecf.1_5'Flank|YJEFN3_uc002nmu.1_5'Flank	p.I127M	NM_015965	NP_057049	Q9P0J0	NDUAD_HUMAN			2	640	+			44			Helical; (Potential).		B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	ENST00000507754.4	37	c.381C>G	CCDS12404.2	.	.	.	.	.	.	.	.	.	.	C	6.831	0.522535	0.13066	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.77358	-1.09;-1.09;-1.09	5.08	-8.47	0.00939	.	0.483859	0.18734	N	0.132650	T	0.62768	0.2455	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26635	0.016;0.155;0.004	B;B;B	0.31495	0.033;0.131;0.012	T	0.50154	-0.8861	10	0.40728	T	0.16	.	15.9291	0.79646	0.0:0.17:0.7512:0.0788	.	44;44;44	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	M	44;127;44;44	ENSP00000423673:I44M;ENSP00000252576:I127M;ENSP00000452549:I44M	ENSP00000252576:I127M	I	+	3	3	YJEFN3;NDUFA13;CTC-260F20.3	19498028	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.994000	0.01474	-0.769000	0.04620	-0.226000	0.12346	ATC		0.642	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965		6	22	0	0	0	0	6	22				
ZNF737	100129842	broad.mit.edu	37	19	20728762	20728762	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:20728762G>A	ENST00000427401.4	-	4	341	c.247C>T	c.(247-249)Cga>Tga	p.R83*		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CAAAGATCTCGGGCAAAATGA	0.328																																						uc002npa.2		NA																	0				ovary(1)	1						c.(247-249)CGA>TGA		zinc finger protein 737							76.0	62.0	66.0					19																	20728762		692	1591	2283	SO:0001587	stop_gained	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728762G>A	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.247C>T	19.37:g.20728762G>A	ENSP00000395733:p.Arg83*						p.R83*	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	427	-			83					C9JHM3	Nonsense_Mutation	SNP	ENST00000427401.4	37	c.247C>T	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	11.07	1.530922	0.27387	.	.	ENSG00000237440	ENST00000427401	.	.	.	0.775	-1.55	0.08558	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	2.9319	0.05802	0.0:0.0:0.5092:0.4908	.	.	.	.	X	83	.	ENSP00000395733:R83X	R	-	1	2	ZNF737	20520602	0.017000	0.18338	0.019000	0.16419	0.019000	0.09904	-0.231000	0.09069	0.170000	0.19704	0.173000	0.16961	CGA		0.328	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		3	20	0	0	0	0	3	20				
TSHZ3	57616	broad.mit.edu	37	19	31767646	31767646	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:31767646A>G	ENST00000240587.4	-	2	3380	c.3053T>C	c.(3052-3054)aTa>aCa	p.I1018T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1018					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTTTGTGCTATCTGACTGTT	0.502																																						uc002nsy.3		NA																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(3052-3054)ATA>ACA		zinc finger protein 537							177.0	148.0	158.0					19																	31767646		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31767646A>G	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.3053T>C	19.37:g.31767646A>G	ENSP00000240587:p.Ile1018Thr						p.I1018T	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	3118	-	Esophageal squamous(110;0.226)		1018					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.3053T>C	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	A	14.15	2.450278	0.43531	.	.	ENSG00000121297	ENST00000240587	T	0.12774	2.65	5.84	5.84	0.93424	.	0.170406	0.52532	D	0.000066	T	0.24509	0.0594	N	0.22421	0.69	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.02121	-1.1210	10	0.56958	D	0.05	-20.2355	16.216	0.82217	1.0:0.0:0.0:0.0	.	1018	Q63HK5	TSH3_HUMAN	T	1018	ENSP00000240587:I1018T	ENSP00000240587:I1018T	I	-	2	0	TSHZ3	36459486	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.930000	0.92872	2.228000	0.72767	0.482000	0.46254	ATA		0.502	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		17	42	0	0	0	0	17	42				
FCGBP	8857	broad.mit.edu	37	19	40354269	40354269	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:40354269G>A	ENST00000221347.6	-	35	16207	c.16200C>T	c.(16198-16200)ttC>ttT	p.F5400F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5400	VWFD 13. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACCATGGGGAGAAGTCCTGCG	0.557																																						uc002omp.3		NA																	0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(16198-16200)TTC>TTT		Fc fragment of IgG binding protein precursor							120.0	101.0	108.0					19																	40354269		2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40354269G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.16200C>T	19.37:g.40354269G>A							p.F5400F	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		35	16208	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5400			VWFD 13.		O95784	Silent	SNP	ENST00000221347.6	37	c.16200C>T	CCDS12546.1																																																																																				0.557	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		13	61	0	0	0	0	13	61				
CEACAM5	1048	broad.mit.edu	37	19	42221507	42221507	+	Silent	SNP	G	G	A	rs149933160		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:42221507G>A	ENST00000221992.6	+	5	1206	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.P363P|CEACAM5_ENST00000405816.1_Silent_p.P364P	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	364	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AGAGCCTCCCGGTCAGTCCCA	0.512																																						uc002ork.2		NA																	0				skin(2)	2						c.(1090-1092)CCG>CCA		carcinoembryonic antigen-related cell adhesion		G		1,4405		0,1,2202	187.0	174.0	178.0		1092	-4.2	0.0	19	dbSNP_134	178	0,8600		0,0,4300	no	coding-synonymous	CEACAM5	NM_004363.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		364/703	42221507	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1048					anchored to membrane|basolateral plasma membrane|integral to plasma membrane		g.chr19:42221507G>A	M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1092G>A	19.37:g.42221507G>A						CEACAM5_uc002orj.1_Silent_p.P363P|CEACAM5_uc002orl.2_Silent_p.P364P	p.P364P	NM_004363	NP_004354	P06731	CEAM5_HUMAN		OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)	5	1213	+			364			Ig-like 4.		H9KVA7	Silent	SNP	ENST00000221992.6	37	c.1092G>A	CCDS12584.1	.	.	.	.	.	.	.	.	.	.	G	1.788	-0.480314	0.04383	2.27E-4	0.0	ENSG00000105388	ENST00000398599	.	.	.	2.11	-4.23	0.03789	.	.	.	.	.	T	0.20618	0.0496	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25363	-1.0134	4	.	.	.	.	4.4978	0.11848	0.535:0.1783:0.2867:0.0	.	.	.	.	S	360	.	.	G	+	1	0	CEACAM5	46913347	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.869000	0.01643	-1.428000	0.01989	-0.361000	0.07541	GGT		0.512	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321132.2	NM_004363		29	159	0	0	0	0	29	159				
GRIK5	2901	broad.mit.edu	37	19	42510941	42510941	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:42510941G>A	ENST00000262895.3	-	15	1892	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	GRIK5_ENST00000593562.1_Silent_p.I631I|GRIK5_ENST00000301218.4_Silent_p.I631I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	631					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				AGGAGGAGATGATGATCAAGG	0.647																																						uc002osj.1		NA																	0					0						c.(1891-1893)ATC>ATT		glutamate receptor KA2 precursor	L-Glutamic Acid(DB00142)						57.0	46.0	50.0					19																	42510941		2203	4300	6503	SO:0001819	synonymous_variant	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42510941G>A		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1893C>T	19.37:g.42510941G>A						GRIK5_uc002osi.1_Silent_p.I203I	p.I631I	NM_002088	NP_002079	Q16478	GRIK5_HUMAN			15	1928	-		Prostate(69;0.059)	631			Helical; (Potential).		Q8WWG8	Silent	SNP	ENST00000262895.3	37	c.1893C>T	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.401359	0.25291	.	.	ENSG00000105737	ENST00000454993	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	T	0.74207	0.3686	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73056	-0.4103	4	.	.	.	.	17.8611	0.88781	0.0:0.0:1.0:0.0	.	.	.	.	Y	8	.	.	H	-	1	0	GRIK5	47202781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.988000	0.88194	2.522000	0.85027	0.563000	0.77884	CAT		0.647	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			8	19	0	0	0	0	8	19				
IRGC	56269	broad.mit.edu	37	19	44222839	44222839	+	Silent	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:44222839C>A	ENST00000244314.5	+	2	328	c.129C>A	c.(127-129)ctC>ctA	p.L43L		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	43						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCTCTCACCTCCAGGAGCTGC	0.667																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(127-129)CTC>CTA		immunity-related GTPase family, cinema							34.0	40.0	38.0					19																	44222839		2201	4298	6499	SO:0001819	synonymous_variant	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44222839C>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.129C>A	19.37:g.44222839C>A							p.L43L	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	276	+		Prostate(69;0.0435)	43					Q05BR8	Silent	SNP	ENST00000244314.5	37	c.129C>A	CCDS12629.1																																																																																				0.667	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612		34	48	1	0	6.53e-20	7.08e-20	34	48				
MARK4	57787	broad.mit.edu	37	19	45769536	45769536	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:45769536G>A	ENST00000262891.4	+	7	877	c.546G>A	c.(544-546)ctG>ctA	p.L182L	MARK4_ENST00000300843.4_Silent_p.L182L	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	182	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACAGGGACCTGAAGGTAAGCC	0.562																																						uc002pbb.1		NA																	0				central_nervous_system(2)|large_intestine(1)	3						c.(544-546)CTG>CTA		RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;							154.0	133.0	140.0					19																	45769536		2203	4300	6503	SO:0001819	synonymous_variant	57787				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding	g.chr19:45769536G>A	AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.546G>A	19.37:g.45769536G>A						MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.L182L|MARK4_uc002pbc.1_Silent_p.L48L	p.L182L			Q96L34	MARK4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0102)	7	551	+		all_neural(266;0.224)|Ovarian(192;0.231)	182			Protein kinase.		Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Silent	SNP	ENST00000262891.4	37	c.546G>A	CCDS56097.1																																																																																				0.562	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417		61	76	0	0	0	0	61	76				
ZNF528	84436	broad.mit.edu	37	19	52919487	52919487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:52919487G>A	ENST00000360465.3	+	7	1808	c.1382G>A	c.(1381-1383)gGa>gAa	p.G461E	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATCCATAGTGGAGAGAAACCT	0.378																																						uc002pzh.2		NA																	0				ovary(1)|skin(1)	2						c.(1381-1383)GGA>GAA		zinc finger protein 528							67.0	67.0	67.0					19																	52919487		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919487G>A	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.1382G>A	19.37:g.52919487G>A	ENSP00000353652:p.Gly461Glu					ZNF528_uc002pzi.2_Missense_Mutation_p.G228E	p.G461E	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	1808	+			461					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1382G>A	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613107	0.46631	.	.	ENSG00000167555	ENST00000360465	T	0.25749	1.78	1.96	0.817	0.18773	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31295	0.0792	L	0.60067	1.865	0.29006	N	0.8872	D	0.58268	0.982	P	0.49301	0.606	T	0.21793	-1.0235	9	0.62326	D	0.03	.	9.1217	0.36791	0.0:0.2282:0.7718:0.0	.	461	Q3MIS6	ZN528_HUMAN	E	461	ENSP00000353652:G461E	ENSP00000353652:G461E	G	+	2	0	ZNF528	57611299	0.952000	0.32445	0.121000	0.21740	0.081000	0.17604	1.399000	0.34566	0.130000	0.18549	-0.172000	0.13284	GGA		0.378	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		20	76	0	0	0	0	20	76				
MBOAT7	79143	broad.mit.edu	37	19	54677887	54677887	+	Missense_Mutation	SNP	G	G	A	rs376939333		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:54677887G>A	ENST00000245615.1	-	8	1750	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W	TMC4_ENST00000301187.4_5'Flank|TMC4_ENST00000476013.2_5'Flank|MBOAT7_ENST00000431666.2_Missense_Mutation_p.R351W|TMC4_ENST00000376591.4_5'Flank|MBOAT7_ENST00000338624.6_Missense_Mutation_p.R351W	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	424					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCCCAGTACCGAAGGGTGTCG	0.647																																					NSCLC(97;826 2151 10470 22540)	uc002qdq.2		NA																	0					0						c.(1270-1272)CGG>TGG		membrane bound O-acyltransferase domain		G	TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	110.0	98.0	102.0		1051,1051,1270	4.8	0.8	19		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	MBOAT7	NM_001146056.1,NM_001146083.1,NM_024298.3	101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	351/400,351/400,424/473	54677887	1,13005	2203	4300	6503	SO:0001583	missense	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54677887G>A	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.1270C>T	19.37:g.54677887G>A	ENSP00000245615:p.Arg424Trp					TMC4_uc010erf.2_5'Flank|TMC4_uc002qdo.2_5'Flank|MBOAT7_uc010erg.2_Missense_Mutation_p.R108W|MBOAT7_uc010yem.1_Missense_Mutation_p.R406W|MBOAT7_uc002qdr.2_Missense_Mutation_p.R424W|MBOAT7_uc002qds.2_Missense_Mutation_p.R351W|MBOAT7_uc010yen.1_Missense_Mutation_p.R351W	p.R424W	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN			9	1536	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		424					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	ENST00000245615.1	37	c.1270C>T	CCDS12883.1	.	.	.	.	.	.	.	.	.	.	g	17.23	3.336589	0.60963	0.0	1.16E-4	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615	T;T;T	0.18960	2.18;2.18;2.18	4.79	4.79	0.61399	.	0.225320	0.45361	D	0.000379	T	0.41627	0.1167	L	0.55481	1.735	0.48632	D	0.99968	D;D;D	0.89917	1.0;1.0;1.0	P;D;P	0.67382	0.895;0.951;0.895	T	0.29181	-1.0020	10	0.66056	D	0.02	-29.3926	17.0288	0.86455	0.0:0.0:1.0:0.0	.	406;351;424	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	W	351;351;424	ENSP00000410503:R351W;ENSP00000344377:R351W;ENSP00000245615:R424W	ENSP00000245615:R424W	R	-	1	2	MBOAT7	59369699	1.000000	0.71417	0.848000	0.33437	0.613000	0.37349	4.109000	0.57824	2.393000	0.81446	0.480000	0.44947	CGG		0.647	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	NM_024298		17	102	0	0	0	0	17	102				
LILRA5	353514	broad.mit.edu	37	19	54819017	54819017	+	Silent	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:54819017G>C	ENST00000301219.3	-	6	848	c.729C>G	c.(727-729)ctC>ctG	p.L243L	LILRA5_ENST00000346508.3_Silent_p.L231L|AC008984.2_ENST00000507363.1_RNA	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	243					innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGACGGACTGAGGTTATCAG	0.507																																						uc002qfe.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(727-729)CTC>CTG		leukocyte immunoglobulin-like receptor subfamily							90.0	81.0	84.0					19																	54819017		2203	4300	6503	SO:0001819	synonymous_variant	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54819017G>C	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.729C>G	19.37:g.54819017G>C						LILRA5_uc002qff.2_Silent_p.L231L|LILRA5_uc010yev.1_Silent_p.L243L|LILRA5_uc010yew.1_Silent_p.L231L	p.L243L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	849	-	Ovarian(34;0.19)		243			Extracellular (Potential).		A6NHI3	Silent	SNP	ENST00000301219.3	37	c.729C>G	CCDS12888.1																																																																																				0.507	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		10	42	0	0	0	0	10	42				
NLRP13	126204	broad.mit.edu	37	19	56422029	56422029	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:56422029G>C	ENST00000342929.3	-	6	2181	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	NLRP13_ENST00000588751.1_Missense_Mutation_p.L728V	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	728							ATP binding (GO:0005524)	p.L728M(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCTCATGCAGATTCTCATTT	0.453																																						uc010ygg.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(2182-2184)CTG>GTG		NACHT, leucine rich repeat and PYD containing							197.0	171.0	180.0					19																	56422029		2203	4300	6503	SO:0001583	missense	126204						ATP binding	g.chr19:56422029G>C	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2182C>G	19.37:g.56422029G>C	ENSP00000343891:p.Leu728Val						p.L728V	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	6	2207	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	728			LRR 1.		Q7RTR5	Missense_Mutation	SNP	ENST00000342929.3	37	c.2182C>G	CCDS33119.1	.	.	.	.	.	.	.	.	.	.	G	0.946	-0.708024	0.03230	.	.	ENSG00000173572	ENST00000342929	T	0.74526	-0.85	2.96	-5.91	0.02269	.	.	.	.	.	T	0.62974	0.2472	M	0.65975	2.015	0.09310	N	1	B	0.27910	0.193	B	0.25291	0.059	T	0.39210	-0.9625	9	0.44086	T	0.13	.	2.509	0.04652	0.1716:0.1236:0.4228:0.282	.	728	Q86W25	NAL13_HUMAN	V	728	ENSP00000343891:L728V	ENSP00000343891:L728V	L	-	1	2	NLRP13	61113841	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.874000	0.01636	-3.481000	0.00155	-1.262000	0.01453	CTG		0.453	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		32	97	0	0	0	0	32	97				
ZNF667	63934	broad.mit.edu	37	19	56954105	56954105	+	Missense_Mutation	SNP	C	C	A	rs138160651	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:56954105C>A	ENST00000504904.3	-	7	978	c.259G>T	c.(259-261)Ggg>Tgg	p.G87W	ZNF667_ENST00000292069.6_Missense_Mutation_p.G87W|ZNF667_ENST00000342634.3_Missense_Mutation_p.G215W|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	87					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATTTAGACCCCGAGTCTGAA	0.348																																						uc002qnd.2		NA																	0				pancreas(1)	1						c.(259-261)GGG>TGG		zinc finger protein 667							43.0	47.0	46.0					19																	56954105		2139	4096	6235	SO:0001583	missense	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56954105C>A		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.259G>T	19.37:g.56954105C>A	ENSP00000439402:p.Gly87Trp					ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.G87W|ZNF667_uc010etm.2_Missense_Mutation_p.G30W	p.G87W	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	5	421	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	87					B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	c.259G>T	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	0.993	-0.693512	0.03303	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069	T;T;T	0.06142	3.43;3.34;3.34	4.52	2.39	0.29439	.	0.169407	0.28436	N	0.015358	T	0.13713	0.0332	L	0.48642	1.525	0.09310	N	1	D;D	0.71674	0.998;0.996	D;D	0.71656	0.974;0.962	T	0.04664	-1.0935	10	0.39692	T	0.17	-2.6546	7.0906	0.25282	0.0:0.7936:0.0:0.2064	.	215;87	E7EPS0;Q5HYK9	.;ZN667_HUMAN	W	215;87;87	ENSP00000344699:G215W;ENSP00000439402:G87W;ENSP00000292069:G87W	ENSP00000292069:G87W	G	-	1	0	ZNF667	61645917	0.000000	0.05858	0.346000	0.25655	0.029000	0.11900	0.244000	0.18124	0.651000	0.30788	-0.259000	0.10710	GGG		0.348	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103		15	77	1	0	2.23e-06	2.35e-06	15	77				
ZNF71	58491	broad.mit.edu	37	19	57133429	57133429	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr19:57133429C>T	ENST00000328070.6	+	3	1008	c.774C>T	c.(772-774)atC>atT	p.I258I		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	258					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)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGCACCTCATCGTGCACCAGC	0.662																																						uc002qnm.3		NA																	0				skin(1)	1						c.(772-774)ATC>ATT		zinc finger protein 71							58.0	57.0	58.0					19																	57133429		2203	4300	6503	SO:0001819	synonymous_variant	58491					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57133429C>T	X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.774C>T	19.37:g.57133429C>T							p.I258I	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN		GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)	3	1012	+			258			C2H2-type 5.		Q15919|Q9UC09|Q9UQD3	Silent	SNP	ENST00000328070.6	37	c.774C>T	CCDS12947.1																																																																																				0.662	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459798.2	NM_021216		16	48	0	0	0	0	16	48				
CLEC4F	165530	broad.mit.edu	37	2	71046980	71046980	+	Silent	SNP	C	C	T	rs370268756		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:71046980C>T	ENST00000272367.2	-	2	181	c.105G>A	c.(103-105)ccG>ccA	p.P35P	CLEC4F_ENST00000426626.1_Silent_p.P35P	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	35					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GAACGAGCCTCGGTATCTTGG	0.567																																					Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	0				ovary(5)	5						c.(103-105)CCG>CCA		C-type lectin, superfamily member 13		C		0,4406		0,0,2203	56.0	55.0	55.0		105	-9.3	0.0	2		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CLEC4F	NM_173535.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		35/590	71046980	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71046980C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.105G>A	2.37:g.71046980C>T						CLEC4F_uc010yqv.1_Silent_p.P35P	p.P35P	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			2	182	-			35			Cytoplasmic (Potential).		A4QPA5	Silent	SNP	ENST00000272367.2	37	c.105G>A	CCDS1910.1																																																																																				0.567	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		12	30	0	0	0	0	12	30				
PCGF1	84759	broad.mit.edu	37	2	74734013	74734013	+	Splice_Site	SNP	T	T	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:74734013T>C	ENST00000233630.6	-	3	1111		c.e3-2		LBX2-AS1_ENST00000548978.2_RNA|PCGF1_ENST00000480844.2_Splice_Site|LBX2-AS1_ENST00000603175.1_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1						histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						TCTTGCAGACTGCAGGAAAAG	0.527																																						uc002slz.2		NA																	0				ovary(1)	1						c.e3-1		polycomb group ring finger 1							98.0	91.0	93.0					2																	74734013		2203	4300	6503	SO:0001630	splice_region_variant	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74734013T>C	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.200-2A>G	2.37:g.74734013T>C						PCGF1_uc002sly.2_Splice_Site	p.F67_splice	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN			3	226	-								Q7Z506	Splice_Site	SNP	ENST00000233630.6	37	c.200_splice	CCDS1946.2	.	.	.	.	.	.	.	.	.	.	T	20.2	3.953365	0.73902	.	.	ENSG00000115289	ENST00000233630	.	.	.	5.69	5.69	0.88448	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3462	0.55122	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PCGF1	74587521	1.000000	0.71417	0.986000	0.45419	0.988000	0.76386	7.393000	0.79851	2.170000	0.68504	0.533000	0.62120	.		0.527	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673	Intron	18	49	0	0	0	0	18	49				
LRRTM1	347730	broad.mit.edu	37	2	80530936	80530936	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:80530936G>A	ENST00000295057.3	-	2	665	c.9C>T	c.(7-9)ttC>ttT	p.F3F	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.F3F|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	3					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CGAGCAGCAGGAAATCCATTA	0.557										HNSCC(69;0.2)																												uc002sok.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(7-9)TTC>TTT		leucine rich repeat transmembrane neuronal 1							27.0	29.0	29.0					2																	80530936		2012	4143	6155	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530936G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.9C>T	2.37:g.80530936G>A		HNSCC(69;0.2)				CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	p.F3F	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN			2	279	-			3					A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.9C>T	CCDS1966.1																																																																																				0.557	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		11	42	0	0	0	0	11	42				
GALNT5	11227	broad.mit.edu	37	2	158115563	158115563	+	Silent	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:158115563G>C	ENST00000259056.4	+	1	1454	c.969G>C	c.(967-969)gtG>gtC	p.V323V		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	323					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCATCTTGTGATTATAACCA	0.388																																						uc002tzg.2		NA																	0				breast(3)|skin(1)	4						c.(967-969)GTG>GTC		N-acetylgalactosaminyltransferase 5							61.0	65.0	64.0					2																	158115563		2203	4300	6503	SO:0001819	synonymous_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115563G>C	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.969G>C	2.37:g.158115563G>C						GALNT5_uc010zci.1_RNA	p.V323V	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			1	1224	+			323			Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	c.969G>C	CCDS2203.1																																																																																				0.388	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		27	72	0	0	0	0	27	72				
TTN	7273	broad.mit.edu	37	2	179449657	179449657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:179449657C>T	ENST00000591111.1	-	260	60012	c.59788G>A	c.(59788-59790)Gat>Aat	p.D19930N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D12506N|TTN_ENST00000589042.1_Missense_Mutation_p.D21571N|TTN_ENST00000342992.6_Missense_Mutation_p.D19003N|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D12631N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D12698N			Q8WZ42	TITIN_HUMAN	titin	19930	Fibronectin type-III 44. {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)			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)			GCGTCTATATCAGAAATGTCA	0.458																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(57007-57009)GAT>AAT		titin isoform N2-A							55.0	58.0	57.0					2																	179449657		1913	4124	6037	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179449657C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.59788G>A	2.37:g.179449657C>T	ENSP00000465570:p.Asp19930Asn					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D12698N|TTN_uc010zfi.1_Missense_Mutation_p.D12631N|TTN_uc010zfj.1_Missense_Mutation_p.D12506N	p.D19003N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		259	57231	-			19930					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.57007G>A		.	.	.	.	.	.	.	.	.	.	C	17.45	3.391724	0.62066	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48926	0.1527	L	0.33753	1.03	0.58432	D	0.999997	B;B;P;B	0.35493	0.22;0.22;0.505;0.22	B;B;B;B	0.35770	0.21;0.21;0.21;0.158	T	0.49799	-0.8901	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	12506;12631;12698;19930	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	19003;12506;12698;12631;12504	ENSP00000343764:D19003N;ENSP00000434586:D12506N;ENSP00000340554:D12698N;ENSP00000352154:D12631N	ENSP00000340554:D12698N	D	-	1	0	TTN	179157903	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	7.770000	0.85390	2.941000	0.99782	0.655000	0.94253	GAT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	39	0	0	0	0	24	39				
STAT1	6772	broad.mit.edu	37	2	191874723	191874723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:191874723G>A	ENST00000361099.3	-	3	394	c.7C>T	c.(7-9)Cag>Tag	p.Q3*	STAT1_ENST00000540176.1_Nonsense_Mutation_p.Q3*|STAT1_ENST00000392323.2_Nonsense_Mutation_p.Q5*|STAT1_ENST00000409465.1_Nonsense_Mutation_p.Q3*|STAT1_ENST00000392322.3_Nonsense_Mutation_p.Q3*	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	3					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|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)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			TCGTACCACTGAGACATCCTA	0.403																																						uc002usj.2		NA																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(7-9)CAG>TAG		signal transducer and activator of transcription	Fludarabine(DB01073)						96.0	89.0	92.0					2																	191874723		2203	4300	6503	SO:0001587	stop_gained	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191874723G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.7C>T	2.37:g.191874723G>A	ENSP00000354394:p.Gln3*					STAT1_uc010fse.1_Nonsense_Mutation_p.Q3*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q3*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q5*|STAT1_uc010fsf.1_5'UTR	p.Q3*	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		3	395	-			3					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Nonsense_Mutation	SNP	ENST00000361099.3	37	c.7C>T	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	30	5.058013	0.93846	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000540176;ENST00000392322;ENST00000392323;ENST00000424722;ENST00000454414;ENST00000432058	.	.	.	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-31.2906	17.2092	0.86926	0.0:0.0:1.0:0.0	.	.	.	.	X	3;3;3;3;5;3;3;3	.	ENSP00000354394:Q3X	Q	-	1	0	STAT1	191582968	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	9.657000	0.98554	2.540000	0.85666	0.650000	0.86243	CAG		0.403	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		18	22	0	0	0	0	18	22				
ALS2CR12	130540	broad.mit.edu	37	2	202173910	202173910	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:202173910C>T	ENST00000286190.5	-	9	785	c.739G>A	c.(739-741)Gag>Aag	p.E247K	ALS2CR12_ENST00000405148.2_Missense_Mutation_p.E247K|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.E247K|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.E247K			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	247					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TCGAACTTCTCATCCTTCTTC	0.408																																						uc010ftg.2		NA																	0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(739-741)GAG>AAG		amyotrophic lateral sclerosis 2 (juvenile)							276.0	254.0	261.0					2																	202173910		2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202173910C>T	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.739G>A	2.37:g.202173910C>T	ENSP00000286190:p.Glu247Lys					ALS2CR12_uc002uya.3_Missense_Mutation_p.E247K|ALS2CR12_uc010fth.2_RNA	p.E247K	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			10	1183	-			247					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.739G>A	CCDS2346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.869393|4.869393	0.91587|0.91587	.|.	.|.	ENSG00000155749|ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000425488|ENST00000415745	T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.56097|.	D|.	0.000021|.	T|T	0.72930|0.72930	0.3522|0.3522	M|M	0.64997|0.64997	1.995|1.995	0.40048|0.40048	D|D	0.97573|0.97573	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.70949|0.70949	-0.4733|-0.4733	10|5	0.12766|.	T|.	0.61|.	-24.0764|-24.0764	17.1162|17.1162	0.86689|0.86689	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	247;247|.	Q96Q35;G5E9S3|.	AL2SB_HUMAN;.|.	K|I	247;247;247;247;133|21	ENSP00000286190:E247K;ENSP00000385098:E247K;ENSP00000376086:E247K;ENSP00000412073:E247K;ENSP00000393945:E133K|.	ENSP00000286190:E247K|.	E|M	-|-	1|3	0|0	ALS2CR12|ALS2CR12	201882155|201882155	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	4.074000|4.074000	0.57577|0.57577	2.855000|2.855000	0.98099|0.98099	0.650000|0.650000	0.86243|0.86243	GAG|ATG		0.408	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163		43	64	0	0	0	0	43	64				
NBEAL1	65065	broad.mit.edu	37	2	204009620	204009620	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:204009620G>C	ENST00000449802.1	+	31	5392	c.5059G>C	c.(5059-5061)Gaa>Caa	p.E1687Q		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1687										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTTTACATTGAAAAATATGT	0.259																																						uc002uzt.3		NA																	0				ovary(1)|skin(1)	2						c.(5059-5061)GAA>CAA		neurobeachin-like 1 isoform 3							33.0	28.0	30.0					2																	204009620		1785	4060	5845	SO:0001583	missense	65065						binding	g.chr2:204009620G>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.5059G>C	2.37:g.204009620G>C	ENSP00000399903:p.Glu1687Gln					NBEAL1_uc002uzs.3_Missense_Mutation_p.E397Q	p.E1687Q	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			31	5392	+			1687					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.5059G>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.839194	0.51057	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.55588	0.51	5.8	5.8	0.92144	.	0.046816	0.85682	D	0.000000	T	0.38427	0.1040	L	0.29908	0.895	0.53688	D	0.99997	P;P	0.42827	0.791;0.791	B;B	0.35114	0.196;0.196	T	0.30475	-0.9977	10	0.07482	T	0.82	.	19.6495	0.95795	0.0:0.0:1.0:0.0	.	1687;1676	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	Q	1687	ENSP00000399903:E1687Q	ENSP00000344985:E1687Q	E	+	1	0	NBEAL1	203717865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.628000	0.83189	2.748000	0.94277	0.655000	0.94253	GAA		0.259	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			6	8	0	0	0	0	6	8				
TRIB3	57761	broad.mit.edu	37	20	372179	372179	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:372179G>A	ENST00000217233.3	+	3	1093	c.540G>A	c.(538-540)ctG>ctA	p.L180L	TRIB3_ENST00000422053.2_Silent_p.L207L	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	180	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GTCTGGTCCTGCGTGATCTCA	0.637																																					Melanoma(101;421 2374 19538)	uc002wdm.2		NA																	0				central_nervous_system(2)	2						c.(538-540)CTG>CTA		tribbles 3							68.0	56.0	60.0					20																	372179		2203	4300	6503	SO:0001819	synonymous_variant	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:372179G>A	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.540G>A	20.37:g.372179G>A						TRIB3_uc002wdn.2_Silent_p.L207L	p.L180L	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	3	1046	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	180			Protein kinase.		Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Silent	SNP	ENST00000217233.3	37	c.540G>A	CCDS12997.1																																																																																				0.637	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		8	27	0	0	0	0	8	27				
CFAP61	26074	broad.mit.edu	37	20	20243630	20243630	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:20243630C>G	ENST00000245957.5	+	21	2435	c.2359C>G	c.(2359-2361)Caa>Gaa	p.Q787E	C20orf26_ENST00000377309.2_Missense_Mutation_p.Q143E|C20orf26_ENST00000389656.3_Missense_Mutation_p.Q143E|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.Q143E	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		787										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGATATTAGTCAACACCTGAC	0.443																																						uc002wru.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2359-2361)CAA>GAA		hypothetical protein LOC26074							95.0	94.0	94.0					20																	20243630		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20243630C>G																												ENST00000245957.5:c.2359C>G	20.37:g.20243630C>G	ENSP00000245957:p.Gln787Glu					C20orf26_uc010zse.1_Missense_Mutation_p.Q767E|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.Q143E	p.Q787E	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	21	2435	+			787					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2359C>G	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	C	8.315	0.823034	0.16678	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.12	1.88	0.25563	.	0.722904	0.13876	N	0.356696	T	0.11153	0.0272	N	0.12182	0.205	0.09310	N	1	B;B;B	0.17667	0.007;0.022;0.023	B;B;B	0.17722	0.005;0.007;0.019	T	0.30268	-0.9984	10	0.19147	T	0.46	.	3.4275	0.07416	0.4776:0.3089:0.127:0.0865	.	767;143;787	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	E	727;143;143;767;787;143	ENSP00000366524:Q143E;ENSP00000374307:Q143E;ENSP00000245957:Q787E;ENSP00000366508:Q143E	ENSP00000245957:Q787E	Q	+	1	0	C20orf26	20191630	0.123000	0.22298	0.003000	0.11579	0.453000	0.32348	0.462000	0.21956	0.712000	0.32039	0.655000	0.94253	CAA		0.443	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			12	31	0	0	0	0	12	31				
GINS1	9837	broad.mit.edu	37	20	25405913	25405913	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:25405913G>A	ENST00000262460.4	+	5	491	c.397G>A	c.(397-399)Ggt>Agt	p.G133S	GINS1_ENST00000429262.2_3'UTR	NM_021067.3	NP_066545.3	Q14691	PSF1_HUMAN	GINS complex subunit 1 (Psf1 homolog)	133					DNA strand elongation involved in DNA replication (GO:0006271)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.G133R(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AGGAGATGAAGGTTTGGACAT	0.313																																						uc002wuv.1		NA																	1	Substitution - Missense(1)	p.G133R(1)	ovary(1)	ovary(1)|central_nervous_system(1)	2						c.(397-399)GGT>AGT		GINS complex subunit 1							93.0	93.0	93.0					20																	25405913		2203	4299	6502	SO:0001583	missense	9837				DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		g.chr20:25405913G>A	BC012542	CCDS33451.1	20p11.21	2006-05-04			ENSG00000101003	ENSG00000101003			28980	protein-coding gene	gene with protein product		610608				8724849, 8786132	Standard	NM_021067		Approved	KIAA0186, PSF1	uc002wuv.1	Q14691	OTTHUMG00000032124	ENST00000262460.4:c.397G>A	20.37:g.25405913G>A	ENSP00000262460:p.Gly133Ser					GINS1_uc010zte.1_RNA	p.G133S	NM_021067	NP_066545	Q14691	PSF1_HUMAN			5	531	+			133					Q9NQE2|Q9NQI7	Missense_Mutation	SNP	ENST00000262460.4	37	c.397G>A	CCDS33451.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369987	0.95900	.	.	ENSG00000101003	ENST00000262460	T	0.45276	0.9	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	M	0.71581	2.175	0.80722	D	1	D	0.64830	0.994	P	0.56127	0.792	T	0.52888	-0.8515	10	0.29301	T	0.29	-15.4848	18.8867	0.92381	0.0:0.0:1.0:0.0	.	133	Q14691	PSF1_HUMAN	S	133	ENSP00000262460:G133S	ENSP00000262460:G133S	G	+	1	0	GINS1	25353913	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	8.521000	0.90569	2.750000	0.94351	0.655000	0.94253	GGT		0.313	GINS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078433.1	NM_021067		3	38	0	0	0	0	3	38				
RBL1	5933	broad.mit.edu	37	20	35668562	35668562	+	Nonsense_Mutation	SNP	G	G	A	rs201261568		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:35668562G>A	ENST00000373664.3	-	14	1963	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	RBL1_ENST00000344359.3_Nonsense_Mutation_p.R633*	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	633	Pocket; binds T and E1A.|Spacer.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTACCTCTTCGAAGACTCCCA	0.413																																						uc002xgi.2		NA																	0				lung(5)|skin(3)|ovary(2)	10						c.(1897-1899)CGA>TGA		retinoblastoma-like protein 1 isoform a		G	stop/ARG,stop/ARG	0,4406		0,0,2203	148.0	136.0	140.0		1897,1897	4.9	1.0	20		140	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained,stop-gained	RBL1	NM_002895.2,NM_183404.1	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	633/1069,633/1015	35668562	2,13004	2203	4300	6503	SO:0001587	stop_gained	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35668562G>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1897C>T	20.37:g.35668562G>A	ENSP00000362768:p.Arg633*					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Nonsense_Mutation_p.R633*	p.R633*	NM_002895	NP_002886	P28749	RBL1_HUMAN			14	1976	-		Myeloproliferative disorder(115;0.00878)	633			Pocket; binds T and E1A.|Spacer.		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Nonsense_Mutation	SNP	ENST00000373664.3	37	c.1897C>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	38	6.657409	0.97739	0.0	2.33E-4	ENSG00000080839	ENST00000373664;ENST00000344359	.	.	.	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-19.8366	13.4114	0.60944	0.0:0.0:0.8054:0.1946	.	.	.	.	X	633	.	ENSP00000343646:R633X	R	-	1	2	RBL1	35101976	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	2.281000	0.43452	2.684000	0.91462	0.650000	0.86243	CGA		0.413	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		33	83	0	0	0	0	33	83				
SLC13A3	64849	broad.mit.edu	37	20	45221110	45221110	+	Missense_Mutation	SNP	G	G	C	rs368814380		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr20:45221110G>C	ENST00000279027.4	-	6	871	c.853C>G	c.(853-855)Ctt>Gtt	p.L285V	SLC13A3_ENST00000495082.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000413164.2_Intron|SLC13A3_ENST00000372121.1_Intron|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L238V|SLC13A3_ENST00000290317.5_Missense_Mutation_p.L238V|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	285					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AACAGCATAAGAGGGAAGGCG	0.522																																						uc002xsf.1		NA																	0				ovary(1)	1						c.(853-855)CTT>GTT		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)	G	VAL/LEU,,VAL/LEU,VAL/LEU,VAL/LEU	0,4406		0,0,2203	154.0	119.0	131.0		712,,712,559,853	4.7	0.7	20		131	1,8599	1.2+/-3.3	0,1,4299	no	missense,intron,missense,missense,missense	SLC13A3	NM_001011554.2,NM_001193339.1,NM_001193340.1,NM_001193342.1,NM_022829.5	32,,32,32,32	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,,probably-damaging,probably-damaging,probably-damaging	238/556,,238/521,187/505,285/603	45221110	1,13005	2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45221110G>C	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.853C>G	20.37:g.45221110G>C	ENSP00000279027:p.Leu285Val					SLC13A3_uc010ghn.1_Missense_Mutation_p.L254V|SLC13A3_uc010zxw.1_Intron|SLC13A3_uc002xsg.1_Missense_Mutation_p.L238V|SLC13A3_uc010gho.1_Missense_Mutation_p.L238V|SLC13A3_uc010zxx.1_Missense_Mutation_p.L187V	p.L285V	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			6	891	-		Myeloproliferative disorder(115;0.0122)	285			Helical; (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.853C>G	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.36|14.36	2.512676|2.512676	0.44660|0.44660	0.0|0.0	1.16E-4|1.16E-4	ENSG00000158296|ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000495082;ENST00000468915|ENST00000450298	T;T;T;T;T;T|.	0.02763|.	4.17;4.17;4.17;4.17;4.17;4.17|.	5.69|5.69	4.72|4.72	0.59763|0.59763	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.53061|0.53061	0.1773|0.1773	L|L	0.39020|0.39020	1.185|1.185	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.988;1.0|.	D;D;D|.	0.91635|.	0.999;0.957;0.999|.	T|T	0.49103|0.49103	-0.8974|-0.8974	10|5	0.05721|.	T|.	0.95|.	-35.9577|-35.9577	9.6647|9.6647	0.39977|0.39977	0.0779:0.0:0.7796:0.1424|0.0779:0.0:0.7796:0.1424	.|.	238;238;285|.	Q8WWT9-3;F6WI18;Q8WWT9|.	.;.;S13A3_HUMAN|.	V|C	238;238;285;238;238;238|114	ENSP00000290317:L238V;ENSP00000379648:L238V;ENSP00000279027:L285V;ENSP00000420177:L238V;ENSP00000419621:L238V;ENSP00000417784:L238V|.	ENSP00000279027:L285V|.	L|S	-|-	1|2	0|0	SLC13A3|SLC13A3	44654517|44654517	1.000000|1.000000	0.71417|0.71417	0.656000|0.656000	0.29637|0.29637	0.992000|0.992000	0.81027|0.81027	5.709000|5.709000	0.68384|0.68384	1.361000|1.361000	0.45981|0.45981	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.522	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			7	27	0	0	0	0	7	27				
UMODL1	89766	broad.mit.edu	37	21	43547845	43547845	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr21:43547845C>T	ENST00000408910.2	+	20	3594	c.3594C>T	c.(3592-3594)ttC>ttT	p.F1198F	UMODL1_ENST00000400427.1_Silent_p.F1254F|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.2_Silent_p.F1126F|UMODL1_ENST00000408989.2_Silent_p.F1326F	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1198	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGCCCAGTTCAAGCTGAGGA	0.517																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NA																	0				ovary(2)|skin(1)	3						c.(3592-3594)TTC>TTT		uromodulin-like 1 isoform 1 precursor							120.0	117.0	118.0					21																	43547845		2017	4191	6208	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43547845C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3594C>T	21.37:g.43547845C>T						UMODL1_uc002zad.1_Silent_p.F1126F|UMODL1_uc002zae.1_Silent_p.F1254F|UMODL1_uc002zag.1_Silent_p.F1326F|UMODL1_uc002zal.1_Silent_p.F148F|UMODL1_uc010gpa.1_RNA	p.F1198F	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			20	3594	+			1198			Extracellular (Potential).|ZP.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.3594C>T	CCDS42936.1																																																																																				0.517	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			12	47	0	0	0	0	12	47				
DRICH1	51233	broad.mit.edu	37	22	23974134	23974134	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr22:23974134G>A	ENST00000317749.5	-	1	374	c.77C>T	c.(76-78)tCt>tTt	p.S26F	KB-1572G7.3_ENST00000390329.3_RNA	NM_016449.3	NP_057533.2	Q6PGQ1	DRIC1_HUMAN		26										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						ATCAGTATCAGATTCATAACA	0.542																																						uc002zxf.2		NA																	0				skin(1)	1						c.(76-78)TCT>TTT		hypothetical protein LOC51233							111.0	112.0	112.0					22																	23974134		1969	4150	6119	SO:0001583	missense	51233							g.chr22:23974134G>A																												ENST00000317749.5:c.77C>T	22.37:g.23974134G>A	ENSP00000316137:p.Ser26Phe						p.S26F	NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN			1	354	-			26					Q6ICJ8|Q6P4I3|Q9NU31	Missense_Mutation	SNP	ENST00000317749.5	37	c.77C>T	CCDS42985.1	.	.	.	.	.	.	.	.	.	.	g	9.209	1.030401	0.19512	.	.	ENSG00000189269	ENST00000317749	T	0.41065	1.01	0.14	0.14	0.14804	.	.	.	.	.	T	0.44767	0.1309	L	0.29908	0.895	0.09310	N	1	D	0.58970	0.984	D	0.63877	0.919	T	0.30297	-0.9983	8	0.72032	D	0.01	.	.	.	.	.	26	Q6PGQ1	CV043_HUMAN	F	26	ENSP00000316137:S26F	ENSP00000316137:S26F	S	-	2	0	C22orf43	22304134	0.036000	0.19791	0.041000	0.18516	0.041000	0.13682	0.248000	0.18198	0.182000	0.20032	0.185000	0.17295	TCT		0.542	C22orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319708.2			26	66	0	0	0	0	26	66				
CABIN1	23523	broad.mit.edu	37	22	24483605	24483605	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr22:24483605C>T	ENST00000398319.2	+	23	3849	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	CABIN1_ENST00000263119.5_Missense_Mutation_p.S1155L|CABIN1_ENST00000405822.2_Missense_Mutation_p.S1105L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1155					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.S1155*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCTTGCACTCATTCGCCTCA	0.587																																						uc002zzi.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(3463-3465)TCA>TTA		calcineurin binding protein 1							125.0	110.0	115.0					22																	24483605		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24483605C>T	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.3464C>T	22.37:g.24483605C>T	ENSP00000381364:p.Ser1155Leu					CABIN1_uc002zzj.1_Missense_Mutation_p.S1105L|CABIN1_uc002zzl.1_Missense_Mutation_p.S1155L	p.S1155L	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN			23	3591	+			1155					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.3464C>T	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467296	0.84533	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.34667	1.35;1.35;1.35	5.1	5.1	0.69264	Tetratricopeptide-like helical (1);	0.231981	0.37261	N	0.002173	T	0.44030	0.1274	M	0.68317	2.08	0.80722	D	1	P;P	0.52316	0.952;0.919	B;B	0.43916	0.436;0.162	T	0.52631	-0.8550	10	0.87932	D	0	.	17.9574	0.89073	0.0:1.0:0.0:0.0	.	1105;1155	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	L	1155;1105;1155	ENSP00000263119:S1155L;ENSP00000384694:S1105L;ENSP00000381364:S1155L	ENSP00000263119:S1155L	S	+	2	0	CABIN1	22813605	1.000000	0.71417	0.948000	0.38648	0.913000	0.54294	7.691000	0.84191	2.568000	0.86640	0.650000	0.86243	TCA		0.587	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		23	60	0	0	0	0	23	60				
TBC1D10A	83874	broad.mit.edu	37	22	30722748	30722748	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr22:30722748G>A	ENST00000215790.7	-	1	287	c.123C>T	c.(121-123)ctC>ctT	p.L41L	TBC1D10A_ENST00000403477.3_Silent_p.L41L|TBC1D10A_ENST00000490449.1_5'UTR	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	41					activation of cysteine-type endopeptidase activity (GO:0097202)|positive regulation of proteolysis (GO:0045862)|retrograde transport, endosome to Golgi (GO:0042147)	extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rab GTPase activator activity (GO:0005097)			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGTCAGACCCGAGAGAGCTGA	0.731																																						uc011akt.1		NA																	0				ovary(1)	1						c.(121-123)CTC>CTT		TBC1 domain family, member 10A							25.0	31.0	29.0					22																	30722748		2202	4292	6494	SO:0001819	synonymous_variant	83874					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	g.chr22:30722748G>A	AF331038	CCDS13874.1, CCDS56227.1	22q12.2	2013-07-09	2005-03-10	2005-03-10	ENSG00000099992	ENSG00000099992			23609	protein-coding gene	gene with protein product	"""EBP50-PDZ interactor of 64 kD"""	610020	"""TBC1 domain family, member 10"""	TBC1D10		11285285, 20404108	Standard	NM_001204240		Approved	EPI64, AC004997.C22.2	uc010gvu.3	Q9BXI6	OTTHUMG00000150924	ENST00000215790.7:c.123C>T	22.37:g.30722748G>A						TBC1D10A_uc010gvu.2_Silent_p.L41L|TBC1D10A_uc003ahk.3_Silent_p.L41L	p.L41L	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN			1	147	-			41					B3KXT8|O76053|Q20WK7|Q543A2	Silent	SNP	ENST00000215790.7	37	c.123C>T	CCDS13874.1																																																																																				0.731	TBC1D10A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320550.1	NM_031937		12	34	0	0	0	0	12	34				
SLC6A1	6529	broad.mit.edu	37	3	11059596	11059596	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:11059596C>T	ENST00000287766.4	+	4	727	c.306C>T	c.(304-306)tgC>tgT	p.C102C	SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	102					gamma-aminobutyric acid import (GO:0051939)|learning (GO:0007612)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neurotransmitter secretion (GO:0007269)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|protein homooligomerization (GO:0051260)|response to calcium ion (GO:0051592)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to lead ion (GO:0010288)|response to purine-containing compound (GO:0014074)|response to sucrose (GO:0009744)|response to toxic substance (GO:0009636)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Clobazam(DB00349)|Tiagabine(DB00906)	TGCTGGAGTGCTCCCTGGGCC	0.592																																						uc010hdq.2		NA																	0				ovary(1)|skin(1)	2						c.(304-306)TGC>TGT		solute carrier family 6 (neurotransmitter	Cocaine(DB00907)|Tiagabine(DB00906)						120.0	126.0	124.0					3																	11059596		2203	4300	6503	SO:0001819	synonymous_variant	6529				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chr3:11059596C>T		CCDS2603.1	3p25.3	2013-07-19	2013-07-19		ENSG00000157103	ENSG00000157103		"""Solute carriers"""	11042	protein-coding gene	gene with protein product	"""GABA transporter 1"""	137165	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 1"""			8530094	Standard	NM_003042		Approved	GAT1, GABATR, GABATHG	uc010hdq.3	P30531	OTTHUMG00000044208	ENST00000287766.4:c.306C>T	3.37:g.11059596C>T							p.C102C	NM_003042	NP_003033	P30531	SC6A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	4	717	+		Ovarian(110;0.0392)	102					Q8N4K8	Silent	SNP	ENST00000287766.4	37	c.306C>T	CCDS2603.1																																																																																				0.592	SLC6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102767.2	NM_003042		43	91	0	0	0	0	43	91				
HACL1	26061	broad.mit.edu	37	3	15613185	15613185	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:15613185G>A	ENST00000321169.5	-	12	1452	c.1085C>T	c.(1084-1086)gCt>gTt	p.A362V	HACL1_ENST00000456194.2_Missense_Mutation_p.A335V|HACL1_ENST00000451445.2_Missense_Mutation_p.A280V|HACL1_ENST00000435217.2_Missense_Mutation_p.A121V|HACL1_ENST00000457447.2_Intron	NM_012260.2	NP_036392.2	Q9UJ83	HACL1_HUMAN	2-hydroxyacyl-CoA lyase 1	362					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976)			NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	16						CTTGGATGCAGCTTCATTGCT	0.408																																						uc003caf.2		NA																	0					0						c.(1084-1086)GCT>GTT		2-hydroxyphytanoyl-CoA lyase							247.0	210.0	223.0					3																	15613185		2203	4300	6503	SO:0001583	missense	26061				fatty acid alpha-oxidation	peroxisomal matrix	carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding	g.chr3:15613185G>A	AJ131753	CCDS2627.1, CCDS68360.1, CCDS68361.1, CCDS68362.1	3p24.3	2009-01-14	2006-05-16	2006-05-16	ENSG00000131373	ENSG00000131373	4.1.-.-		17856	protein-coding gene	gene with protein product		604300	"""2-hydroxyphytanoyl-CoA lyase"""	HPCL		10468558, 15644336	Standard	NM_001284416		Approved	2-HPCL, PHYH2	uc003caf.3	Q9UJ83	OTTHUMG00000129862	ENST00000321169.5:c.1085C>T	3.37:g.15613185G>A	ENSP00000323811:p.Ala362Val					HACL1_uc011avr.1_RNA|HACL1_uc011avs.1_Missense_Mutation_p.A335V|HACL1_uc011avt.1_Intron|HACL1_uc003cag.2_Missense_Mutation_p.A6V|HACL1_uc011avu.1_Missense_Mutation_p.A280V|HACL1_uc010hep.2_Missense_Mutation_p.A121V	p.A362V	NM_012260	NP_036392	Q9UJ83	HACL1_HUMAN			12	1245	-			362					B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2	Missense_Mutation	SNP	ENST00000321169.5	37	c.1085C>T	CCDS2627.1	.	.	.	.	.	.	.	.	.	.	G	10.42	1.346284	0.24426	.	.	ENSG00000131373	ENST00000321169;ENST00000435217;ENST00000451445;ENST00000456194	T;T;T;T	0.48522	1.39;0.81;1.37;1.39	5.08	2.95	0.34219	.	1.794190	0.02926	N	0.138580	T	0.28267	0.0698	N	0.04508	-0.205	0.80722	D	1	P;B;B;B	0.38335	0.627;0.004;0.048;0.01	B;B;B;B	0.32677	0.15;0.005;0.008;0.005	T	0.09552	-1.0669	10	0.28530	T	0.3	.	11.7368	0.51769	0.0:0.0:0.4108:0.5892	.	280;335;121;362	B4DXI5;B4DWI1;B3KPX4;Q9UJ83	.;.;.;HACL1_HUMAN	V	362;121;280;335	ENSP00000323811:A362V;ENSP00000395278:A121V;ENSP00000403656:A280V;ENSP00000390699:A335V	ENSP00000323811:A362V	A	-	2	0	HACL1	15588189	1.000000	0.71417	0.829000	0.32907	0.363000	0.29612	4.523000	0.60545	1.252000	0.44001	0.650000	0.86243	GCT		0.408	HACL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252104.3	NM_012260		15	76	0	0	0	0	15	76				
KCNH8	131096	broad.mit.edu	37	3	19492809	19492809	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:19492809C>T	ENST00000328405.2	+	10	2004	c.1738C>T	c.(1738-1740)Cgt>Tgt	p.R580C	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	580					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTATCTGCTGCGTCAAGGGGA	0.507																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1		NA																	0				lung(4)|ovary(1)	5						c.(1738-1740)CGT>TGT		potassium voltage-gated channel, subfamily H,							92.0	95.0	94.0					3																	19492809		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19492809C>T	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1738C>T	3.37:g.19492809C>T	ENSP00000328813:p.Arg580Cys					KCNH8_uc011awe.1_3'UTR|KCNH8_uc010hex.1_Missense_Mutation_p.R41C|KCNH8_uc011awf.1_3'UTR	p.R580C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			10	1933	+			580			cNMP.|Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.1738C>T	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325419	0.95708	.	.	ENSG00000183960	ENST00000328405	D	0.93659	-3.26	5.68	5.68	0.88126	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.31963	U	0.006799	D	0.97567	0.9203	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97774	1.0228	9	.	.	.	.	19.7897	0.96452	0.0:1.0:0.0:0.0	.	580	Q96L42	KCNH8_HUMAN	C	580	ENSP00000328813:R580C	.	R	+	1	0	KCNH8	19467813	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.045000	0.71020	2.694000	0.91930	0.467000	0.42956	CGT		0.507	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		29	59	0	0	0	0	29	59				
CCR3	1232	broad.mit.edu	37	3	46307508	46307508	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:46307508G>C	ENST00000357422.2	+	4	1402	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	CCR3_ENST00000395942.2_Missense_Mutation_p.E287Q|CCR3_ENST00000545097.1_Missense_Mutation_p.E308Q|CCR3_ENST00000541018.1_Missense_Mutation_p.E287Q|CCR3_ENST00000395940.2_Missense_Mutation_p.E287Q			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	287					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GCTGGTGACAGAGGTGATCGC	0.517																																						uc003cpg.1		NA																	0				ovary(3)|lung(3)|breast(1)|kidney(1)	8						c.(859-861)GAG>CAG		CC chemokine receptor 3 isoform 1							125.0	105.0	112.0					3																	46307508		2203	4300	6503	SO:0001583	missense	1232				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		g.chr3:46307508G>C	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.859G>C	3.37:g.46307508G>C	ENSP00000350003:p.Glu287Gln					CCR3_uc003cpi.1_Missense_Mutation_p.E287Q|CCR3_uc003cpj.1_Missense_Mutation_p.E287Q|CCR3_uc003cpk.1_Missense_Mutation_p.E308Q|CCR3_uc010hjb.1_Missense_Mutation_p.E305Q|CCR3_uc003cpl.1_Missense_Mutation_p.E320Q	p.E287Q	NM_178329	NP_847899	P51677	CCR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)	4	1402	+			287			Helical; Name=7; (Potential).		B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Missense_Mutation	SNP	ENST00000357422.2	37	c.859G>C	CCDS2738.1	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012137	0.35511	.	.	ENSG00000183625	ENST00000357422;ENST00000545097;ENST00000541018;ENST00000395940;ENST00000395942	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.73	4.86	0.63082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000012	T	0.45895	0.1365	M	0.69523	2.12	0.58432	D	0.999991	P;P	0.35944	0.473;0.529	B;B	0.41691	0.329;0.364	T	0.50224	-0.8853	10	0.66056	D	0.02	.	15.262	0.73631	0.0:0.2654:0.7345:0.0	.	308;287	F5GWL6;P51677	.;CCR3_HUMAN	Q	287;308;287;287;287	ENSP00000350003:E287Q;ENSP00000441600:E308Q;ENSP00000440097:E287Q;ENSP00000379271:E287Q;ENSP00000379273:E287Q	ENSP00000350003:E287Q	E	+	1	0	CCR3	46282512	1.000000	0.71417	0.872000	0.34217	0.098000	0.18820	6.733000	0.74796	1.414000	0.47017	-0.150000	0.13652	GAG		0.517	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257380.2			22	27	0	0	0	0	22	27				
CELSR3	1951	broad.mit.edu	37	3	48689469	48689469	+	Missense_Mutation	SNP	C	C	T	rs371909899		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:48689469C>T	ENST00000164024.4	-	12	6044	c.5764G>A	c.(5764-5766)Ggc>Agc	p.G1922S	CELSR3_ENST00000544264.1_Missense_Mutation_p.G1922S	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1922	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGTGGAGCCGAGCCACACC	0.647																																						uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(5764-5766)GGC>AGC		cadherin EGF LAG seven-pass G-type receptor 3							13.0	14.0	14.0					3																	48689469		2176	4273	6449	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48689469C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5764G>A	3.37:g.48689469C>T	ENSP00000164024:p.Gly1922Ser					CELSR3_uc003cuf.1_Missense_Mutation_p.G1992S|CELSR3_uc010hkg.2_5'UTR	p.G1922S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	12	6045	-			1922			Extracellular (Potential).|Laminin G-like 2.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.5764G>A	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199381	0.79015	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.79352	-1.26;-1.26	5.72	4.8	0.61643	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.83073	0.5175	M	0.71036	2.16	0.58432	D	0.999994	D;D	0.67145	0.996;0.992	P;P	0.57720	0.826;0.656	T	0.82394	-0.0479	9	0.42905	T	0.14	.	11.389	0.49802	0.0:0.8032:0.1271:0.0697	.	1922;1992	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	S	1922	ENSP00000164024:G1922S;ENSP00000445694:G1922S	ENSP00000164024:G1922S	G	-	1	0	CELSR3	48664473	0.998000	0.40836	0.978000	0.43139	0.975000	0.68041	4.035000	0.57297	2.711000	0.92665	0.655000	0.94253	GGC		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		3	28	0	0	0	0	3	28				
BSN	8927	broad.mit.edu	37	3	49694791	49694791	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:49694791G>A	ENST00000296452.4	+	5	7916	c.7802G>A	c.(7801-7803)cGa>cAa	p.R2601Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2601	Poly-Arg.				synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTGAGTCGGCGACGCCGGGCA	0.647																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(7801-7803)CGA>CAA		bassoon protein							39.0	47.0	44.0					3																	49694791		2203	4299	6502	SO:0001583	missense	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49694791G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7802G>A	3.37:g.49694791G>A	ENSP00000296452:p.Arg2601Gln						p.R2601Q	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	7916	+			2601			Poly-Arg.		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	c.7802G>A	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616626	0.46736	.	.	ENSG00000164061	ENST00000296452	T	0.32272	1.46	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.54886	0.1886	M	0.68317	2.08	0.51012	D	0.999903	D	0.89917	1.0	D	0.63957	0.92	T	0.54370	-0.8304	10	0.72032	D	0.01	-21.7253	19.7034	0.96065	0.0:0.0:1.0:0.0	.	2601	Q9UPA5	BSN_HUMAN	Q	2601	ENSP00000296452:R2601Q	ENSP00000296452:R2601Q	R	+	2	0	BSN	49669795	1.000000	0.71417	0.984000	0.44739	0.933000	0.57130	9.160000	0.94734	2.756000	0.94617	0.561000	0.74099	CGA		0.647	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		14	32	0	0	0	0	14	32				
DOCK3	1795	broad.mit.edu	37	3	51411927	51411927	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:51411927G>A	ENST00000266037.9	+	50	5344	c.5321G>A	c.(5320-5322)cGc>cAc	p.R1774H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1774					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			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)		GATAAGTACCGCCATGCCCGT	0.537																																						uc011bds.1		NA																	0					0						c.(5320-5322)CGC>CAC		dedicator of cytokinesis 3							110.0	108.0	108.0					3																	51411927		2099	4220	6319	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51411927G>A	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.5321G>A	3.37:g.51411927G>A	ENSP00000266037:p.Arg1774His						p.R1774H	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)	50	5344	+			1774					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5321G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052828	0.55218	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.44881	0.91	4.86	4.86	0.63082	.	0.124266	0.51477	D	0.000082	T	0.39358	0.1075	L	0.53249	1.67	0.45464	D	0.99843	B	0.17465	0.022	B	0.06405	0.002	T	0.25187	-1.0139	10	0.46703	T	0.11	.	13.7524	0.62915	0.0773:0.0:0.9227:0.0	.	1774	Q8IZD9	DOCK3_HUMAN	H	1774;570	ENSP00000266037:R1774H	ENSP00000266037:R1774H	R	+	2	0	DOCK3	51386967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.833000	0.62766	2.407000	0.81776	0.561000	0.74099	CGC		0.537	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		4	11	0	0	0	0	4	11				
OR5H14	403273	broad.mit.edu	37	3	97868899	97868899	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:97868899A>G	ENST00000437310.1	+	1	730	c.670A>G	c.(670-672)Aca>Gca	p.T224A	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGTCCTCTATACAATCTTGAA	0.358																																						uc003dsg.1		NA																	0				skin(1)	1						c.(670-672)ACA>GCA		olfactory receptor, family 5, subfamily H,							51.0	52.0	51.0					3																	97868899		2203	4297	6500	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868899A>G		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.670A>G	3.37:g.97868899A>G	ENSP00000401706:p.Thr224Ala						p.T224A	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	670	+			224			Cytoplasmic (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.670A>G	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	A	0.027	-1.361113	0.01235	.	.	ENSG00000236032	ENST00000437310	T	0.00029	8.91	2.49	-4.09	0.03951	GPCR, rhodopsin-like superfamily (1);	0.633831	0.13915	N	0.353973	T	0.00039	0.0001	N	0.16130	0.375	0.09310	N	1	B	0.17268	0.021	B	0.27170	0.077	T	0.37267	-0.9713	10	0.02654	T	1	.	3.1625	0.06524	0.2091:0.0:0.3782:0.4128	.	224	A6NHG9	O5H14_HUMAN	A	224	ENSP00000401706:T224A	ENSP00000401706:T224A	T	+	1	0	OR5H14	99351589	0.000000	0.05858	0.025000	0.17156	0.028000	0.11728	-0.327000	0.07955	-0.797000	0.04450	0.164000	0.16699	ACA		0.358	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			12	37	0	0	0	0	12	37				
IMPG2	50939	broad.mit.edu	37	3	100995541	100995541	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:100995541G>C	ENST00000193391.7	-	5	737	c.550C>G	c.(550-552)Cca>Gca	p.P184A		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	184					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	ACAGGAACTGGAGAAGACAGT	0.333																																						uc003duq.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(550-552)CCA>GCA		interphotoreceptor matrix proteoglycan 2							56.0	59.0	58.0					3																	100995541		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100995541G>C	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.550C>G	3.37:g.100995541G>C	ENSP00000193391:p.Pro184Ala					IMPG2_uc011bhe.1_Missense_Mutation_p.P47A	p.P184A	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			5	753	-			184			Extracellular (Potential).		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.550C>G	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	G	6.182	0.401843	0.11696	.	.	ENSG00000081148	ENST00000193391	T	0.26223	1.75	4.96	2.19	0.27852	.	0.505114	0.21357	N	0.075873	T	0.22704	0.0548	M	0.64997	1.995	0.20074	N	0.999938	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.002	T	0.18493	-1.0335	10	0.38643	T	0.18	-2.0E-4	6.224	0.20698	0.1689:0.1533:0.6778:0.0	.	184;184	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	A	184	ENSP00000193391:P184A	ENSP00000193391:P184A	P	-	1	0	IMPG2	102478231	0.977000	0.34250	0.344000	0.25628	0.379000	0.30106	0.762000	0.26503	0.371000	0.24564	-0.485000	0.04761	CCA		0.333	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			4	18	0	0	0	0	4	18				
NR1I2	8856	broad.mit.edu	37	3	119528935	119528935	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:119528935G>A	ENST00000337940.4	+	3	390	c.342G>A	c.(340-342)ctG>ctA	p.L114L	NR1I2_ENST00000466380.1_Silent_p.L75L|NR1I2_ENST00000393716.2_Silent_p.L75L	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	75	Hinge.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	ACGCCCGGCTGAGGTGCCCCT	0.697																																						uc003edj.2		NA																	0				ovary(2)	2						c.(223-225)CTG>CTA		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						23.0	29.0	27.0					3																	119528935		2202	4300	6502	SO:0001819	synonymous_variant	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119528935G>A	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.342G>A	3.37:g.119528935G>A						NR1I2_uc003edi.2_Silent_p.L75L|NR1I2_uc003edk.2_Silent_p.L114L|NR1I2_uc003edl.2_5'Flank	p.L75L	NM_003889	NP_003880	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	3	2064	+			75			Nuclear receptor.|Bipartite nuclear localization signal.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Silent	SNP	ENST00000337940.4	37	c.225G>A	CCDS2995.1																																																																																				0.697	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			10	58	0	0	0	0	10	58				
GOLGB1	2804	broad.mit.edu	37	3	121448138	121448138	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:121448138G>A	ENST00000340645.5	-	4	424	c.299C>T	c.(298-300)gCg>gTg	p.A100V	GOLGB1_ENST00000393667.3_Missense_Mutation_p.A100V|GOLGB1_ENST00000472829.1_5'UTR	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	100					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGGCCTTCGCATGAAGTTT	0.363																																						uc003eei.3		NA																	0				ovary(6)|breast(2)|skin(2)	10						c.(298-300)GCG>GTG		golgi autoantigen, golgin subfamily b,							122.0	121.0	121.0					3																	121448138		2203	4300	6503	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121448138G>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.299C>T	3.37:g.121448138G>A	ENSP00000341848:p.Ala100Val					GOLGB1_uc010hrc.2_Missense_Mutation_p.A100V|GOLGB1_uc003eej.3_Missense_Mutation_p.A61V|GOLGB1_uc011bjm.1_Missense_Mutation_p.A61V|GOLGB1_uc010hrd.1_Missense_Mutation_p.A100V	p.A100V	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	4	425	-			100			Potential.|Cytoplasmic (Potential).		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.299C>T	CCDS3004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.90|13.90	2.375507|2.375507	0.42105|0.42105	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517|ENST00000489400	T;T;T|.	0.41400|.	2.03;1.99;1.0|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.104918|.	0.42294|.	D|.	0.000726|.	T|.	0.74665|.	0.3746|.	M|M	0.74881|0.74881	2.28|2.28	0.38831|0.38831	D|D	0.955851|0.955851	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.85130|.	0.997;0.994;0.997;0.994;0.997|.	T|.	0.76030|.	-0.3108|.	10|.	0.42905|.	T|.	0.14|.	.|.	15.2056|15.2056	0.73175|0.73175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	61;100;100;100;100|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	V|X	100|46	ENSP00000341848:A100V;ENSP00000377275:A100V;ENSP00000418231:A100V|.	ENSP00000341848:A100V|.	A|R	-|-	2|1	0|2	GOLGB1|GOLGB1	122930828|122930828	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.167000|0.167000	0.22549|0.22549	4.883000|4.883000	0.63128|0.63128	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	GCG|CGA		0.363	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		20	115	0	0	0	0	20	115				
PLXNA1	5361	broad.mit.edu	37	3	126735460	126735460	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:126735460G>C	ENST00000393409.2	+	15	3115	c.3115G>C	c.(3115-3117)Gag>Cag	p.E1039Q	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E1016Q	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1039	IPT/TIG 2.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CACCAACCCTGAGGTGAAGTA	0.622																																						uc003ejg.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(3046-3048)GAG>CAG		plexin A1							118.0	118.0	118.0					3																	126735460		2203	4300	6503	SO:0001583	missense	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126735460G>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3115G>C	3.37:g.126735460G>C	ENSP00000377061:p.Glu1039Gln						p.E1016Q	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	15	3050	+			1039			IPT/TIG 2.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000393409.2	37	c.3046G>C	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	24.4	4.531532	0.85706	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.76448	-1.02;-1.02	3.84	3.84	0.44239	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.082872	0.49916	D	0.000137	D	0.83440	0.5255	M	0.72894	2.215	0.80722	D	1	P	0.45531	0.86	P	0.54590	0.756	T	0.82311	-0.0520	10	0.27785	T	0.31	.	15.9482	0.79809	0.0:0.0:1.0:0.0	.	1039	Q9UIW2	PLXA1_HUMAN	Q	1039;1016	ENSP00000377061:E1039Q;ENSP00000251772:E1016Q	ENSP00000251772:E1016Q	E	+	1	0	PLXNA1	128218150	1.000000	0.71417	0.971000	0.41717	0.959000	0.62525	7.776000	0.85560	1.986000	0.57962	0.491000	0.48974	GAG		0.622	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		21	107	0	0	0	0	21	107				
KBTBD12	166348	broad.mit.edu	37	3	127642957	127642957	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:127642957G>A	ENST00000405109.1	+	2	1520	c.1053G>A	c.(1051-1053)aaG>aaA	p.K351K	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_Intron|KBTBD12_ENST00000405256.1_Silent_p.K351K|KBTBD12_ENST00000492025.1_3'UTR			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	351										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						AAAAGAACAAGAATGTTGAAA	0.348																																						uc010hsr.2		NA																	0				ovary(1)	1						c.(1051-1053)AAG>AAA		kelch domain containing 6							77.0	74.0	75.0					3																	127642957		1832	4082	5914	SO:0001819	synonymous_variant	166348							g.chr3:127642957G>A		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.1053G>A	3.37:g.127642957G>A						KBTBD12_uc003ejy.3_Intron|KBTBD12_uc010hsq.2_Intron|KBTBD12_uc003eka.3_Intron|KBTBD12_uc003ejz.2_Silent_p.K351K	p.K351K	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN			1	1056	+			351					B5MCC6|Q6ZRK1	Silent	SNP	ENST00000405109.1	37	c.1053G>A	CCDS33848.2																																																																																				0.348	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		18	87	0	0	0	0	18	87				
ARMC8	25852	broad.mit.edu	37	3	137956364	137956364	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:137956364G>T	ENST00000469044.1	+	9	997	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ARMC8_ENST00000485396.1_Missense_Mutation_p.K169N|ARMC8_ENST00000461822.1_Missense_Mutation_p.K242N|ARMC8_ENST00000358441.2_Missense_Mutation_p.K228N|ARMC8_ENST00000470821.1_Missense_Mutation_p.K242N|ARMC8_ENST00000489213.1_Missense_Mutation_p.K200N|ARMC8_ENST00000481646.1_Missense_Mutation_p.K228N|ARMC8_ENST00000471453.1_Missense_Mutation_p.K228N|ARMC8_ENST00000538260.1_Missense_Mutation_p.K211N|ARMC8_ENST00000393058.3_Missense_Mutation_p.K232N|ARMC8_ENST00000491704.1_Missense_Mutation_p.K200N	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	242										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TTTTTGTGAAGATGTTACAGA	0.328																																						uc003esa.1		NA																	0					0						c.(682-684)AAG>AAT		armadillo repeat containing 8 isoform 2							130.0	124.0	126.0					3																	137956364		2203	4300	6503	SO:0001583	missense	25852						binding	g.chr3:137956364G>T		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.726G>T	3.37:g.137956364G>T	ENSP00000419413:p.Lys242Asn					ARMC8_uc003erw.2_Missense_Mutation_p.K228N|ARMC8_uc003erx.2_Missense_Mutation_p.K228N|ARMC8_uc003ery.2_Missense_Mutation_p.K200N|ARMC8_uc003erz.2_Missense_Mutation_p.K200N|ARMC8_uc011bmf.1_Missense_Mutation_p.K211N|ARMC8_uc011bmg.1_Missense_Mutation_p.K242N|ARMC8_uc011bmh.1_Missense_Mutation_p.K169N|ARMC8_uc003esb.1_Missense_Mutation_p.K200N|ARMC8_uc003esc.1_5'UTR	p.K228N	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			10	1051	+			242			ARM 5.		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.684G>T		.	.	.	.	.	.	.	.	.	.	G	13.26	2.183069	0.38511	.	.	ENSG00000114098	ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000471709;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	T;T;T;T;T;T;T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;0.74;0.74;0.32;1.3;0.74;0.74;0.71;1.3;-0.17;1.52	5.53	5.53	0.82687	Armadillo-like helical (1);Armadillo-type fold (1);	0.045801	0.85682	D	0.000000	T	0.43389	0.1245	N	0.08118	0	0.58432	D	0.999994	B;P;B;B;B;B;B	0.37688	0.006;0.605;0.01;0.319;0.118;0.403;0.403	B;B;B;B;B;B;B	0.34991	0.002;0.193;0.006;0.096;0.044;0.172;0.121	T	0.45716	-0.9242	10	0.35671	T	0.21	-10.7672	17.3263	0.87248	0.0:0.0:1.0:0.0	.	169;242;211;242;228;242;228	B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.;.;.;ARMC8_HUMAN;.;.;.	N	228;242;200;228;200;242;169;228;242;211;211;232;136;99	ENSP00000420333:K228N;ENSP00000419413:K242N;ENSP00000417304:K200N;ENSP00000351221:K228N;ENSP00000418412:K200N;ENSP00000420706:K242N;ENSP00000417049:K169N;ENSP00000420440:K228N;ENSP00000418405:K242N;ENSP00000420719:K211N;ENSP00000441592:K211N;ENSP00000376778:K232N;ENSP00000417403:K136N	ENSP00000351221:K228N	K	+	3	2	ARMC8	139439054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.071000	0.71229	2.770000	0.95276	0.655000	0.94253	AAG		0.328	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396		11	66	1	0	0.00400662	0.00412002	11	66				
RASA2	5922	broad.mit.edu	37	3	141328818	141328818	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:141328818T>G	ENST00000452898.1	+	23	2467	c.2432T>G	c.(2431-2433)aTt>aGt	p.I811S	RASA2_ENST00000286364.3_Missense_Mutation_p.I810S	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2	811					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TTTAAGACAATTCAGCAAATA	0.363																																						uc003etz.1		NA																	0				ovary(2)|lung(2)|breast(1)|skin(1)	6						c.(2428-2430)ATT>AGT		RAS p21 protein activator 2							76.0	80.0	78.0					3																	141328818		2203	4300	6503	SO:0001583	missense	5922				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity	g.chr3:141328818T>G	AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.2432T>G	3.37:g.141328818T>G	ENSP00000391677:p.Ile811Ser					RASA2_uc010huq.1_Missense_Mutation_p.I814S|RASA2_uc003eua.1_Missense_Mutation_p.I811S|uc003eub.2_5'Flank	p.I810S	NM_006506	NP_006497	Q15283	RASA2_HUMAN			23	2429	+			810					A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Missense_Mutation	SNP	ENST00000452898.1	37	c.2429T>G		.	.	.	.	.	.	.	.	.	.	T	18.36	3.607278	0.66558	.	.	ENSG00000155903	ENST00000286364;ENST00000452898	T;T	0.76448	-1.02;-1.01	4.96	4.96	0.65561	.	0.070759	0.56097	D	0.000028	T	0.72170	0.3427	N	0.19112	0.55	0.51233	D	0.999916	P;P;P	0.38370	0.494;0.628;0.494	B;P;B	0.45377	0.285;0.478;0.285	T	0.76961	-0.2765	10	0.87932	D	0	.	14.8013	0.69919	0.0:0.0:0.0:1.0	.	811;811;810	A8K7K1;G3V0F9;Q15283	.;.;RASA2_HUMAN	S	810;811	ENSP00000286364:I810S;ENSP00000391677:I811S	ENSP00000286364:I810S	I	+	2	0	RASA2	142811508	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.916000	0.75776	2.096000	0.63516	0.460000	0.39030	ATT		0.363	RASA2-201	KNOWN	basic	protein_coding	protein_coding		NM_006506		20	86	0	0	0	0	20	86				
PCOLCE2	26577	broad.mit.edu	37	3	142607677	142607677	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:142607677G>A	ENST00000295992.3	-	1	368	c.62C>T	c.(61-63)tCg>tTg	p.S21L	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S21L|PCOLCE2_ENST00000461818.1_5'UTR	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	21					positive regulation of peptidase activity (GO:0010952)	extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTGCTGCCGCGAGAGCTGGGT	0.692																																						uc003evd.2		NA																	0				ovary(2)|skin(1)	3						c.(61-63)TCG>TTG		procollagen C-endopeptidase enhancer 2							14.0	24.0	21.0					3																	142607677		2188	4284	6472	SO:0001583	missense	26577					extracellular region	collagen binding|heparin binding|peptidase activator activity	g.chr3:142607677G>A	AF098269	CCDS3127.1	3q21-q24	2008-07-18			ENSG00000163710	ENSG00000163710			8739	protein-coding gene	gene with protein product		607064				10873381	Standard	NM_013363		Approved	PCPE2	uc003evd.3	Q9UKZ9	OTTHUMG00000159312	ENST00000295992.3:c.62C>T	3.37:g.142607677G>A	ENSP00000295992:p.Ser21Leu						p.S21L	NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN			1	258	-			21					B2RCH9|D3DNG4|Q9BRH3	Missense_Mutation	SNP	ENST00000295992.3	37	c.62C>T	CCDS3127.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266038	0.59540	.	.	ENSG00000163710	ENST00000295992;ENST00000485766	T;T	0.21361	2.17;2.01	4.1	4.1	0.47936	.	1.064640	0.07271	N	0.869105	T	0.11410	0.0278	N	0.08118	0	0.09310	N	1	B	0.33494	0.414	B	0.22753	0.041	T	0.10042	-1.0647	10	0.37606	T	0.19	-0.5685	11.6676	0.51383	0.0:0.0:1.0:0.0	.	21	Q9UKZ9	PCOC2_HUMAN	L	21	ENSP00000295992:S21L;ENSP00000419842:S21L	ENSP00000295992:S21L	S	-	2	0	PCOLCE2	144090367	0.193000	0.23313	0.559000	0.28332	0.981000	0.71138	1.903000	0.39858	2.124000	0.65301	0.455000	0.32223	TCG		0.692	PCOLCE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354509.1	NM_013363		3	14	0	0	0	0	3	14				
CP	1356	broad.mit.edu	37	3	148905959	148905959	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:148905959G>A	ENST00000264613.6	-	10	2006	c.1744C>T	c.(1744-1746)Cct>Tct	p.P582S	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	582	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AATACTGTAGGAAACAAATAG	0.343																																						uc003ewy.3		NA																	0				ovary(1)	1						c.(1744-1746)CCT>TCT		ceruloplasmin precursor	Drotrecogin alfa(DB00055)						84.0	82.0	82.0					3																	148905959		2201	4297	6498	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148905959G>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.1744C>T	3.37:g.148905959G>A	ENSP00000264613:p.Pro582Ser					CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.P363S|CP_uc003ewz.2_Missense_Mutation_p.P582S|CP_uc010hvf.1_Missense_Mutation_p.P308S	p.P582S	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		10	1997	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	582			Plastocyanin-like 4.|F5/8 type A 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.1744C>T	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.476286	0.26511	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98633	-5.04;-5.04	6.07	5.19	0.71726	Cupredoxin (2);	0.104628	0.64402	D	0.000003	D	0.96880	0.8981	L	0.42245	1.32	0.39596	D	0.969665	B;B;B;B	0.27166	0.17;0.083;0.17;0.17	B;B;B;B	0.23018	0.017;0.017;0.017;0.043	D	0.95798	0.8830	10	0.54805	T	0.06	-12.4017	16.5665	0.84599	0.0:0.3011:0.6989:0.0	.	582;582;582;582	A5PL27;A8K5A4;P00450;Q1L857	.;.;CERU_HUMAN;.	S	582;365	ENSP00000264613:P582S;ENSP00000420545:P365S	ENSP00000264613:P582S	P	-	1	0	CP	150388649	0.998000	0.40836	1.000000	0.80357	0.964000	0.63967	2.544000	0.45761	1.552000	0.49463	0.655000	0.94253	CCT		0.343	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		22	82	0	0	0	0	22	82				
SLC33A1	9197	broad.mit.edu	37	3	155560316	155560316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:155560316C>T	ENST00000392845.3	-	2	1248	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	SLC33A1_ENST00000359479.3_Missense_Mutation_p.E290K|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	290					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CCTTGTGTTTCTTCTTTTACT	0.338																																						uc003fan.3		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(868-870)GAA>AAA		acetyl-coenzyme A transporter							92.0	81.0	84.0					3																	155560316		2203	4298	6501	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155560316C>T	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.868G>A	3.37:g.155560316C>T	ENSP00000376587:p.Glu290Lys					SLC33A1_uc003fao.1_Missense_Mutation_p.E290K	p.E290K	NM_004733	NP_004724	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		2	1249	-			290			Cytoplasmic (Potential).		B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.868G>A	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848123	0.71603	.	.	ENSG00000169359	ENST00000392845;ENST00000359479;ENST00000496772	D;D	0.82526	-1.62;-1.62	5.55	5.55	0.83447	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.75273	0.3827	L	0.34521	1.04	0.80722	D	1	B	0.24823	0.112	B	0.20955	0.032	T	0.70521	-0.4849	10	0.09338	T	0.73	-25.686	19.5686	0.95404	0.0:1.0:0.0:0.0	.	290	O00400	ACATN_HUMAN	K	290;290;27	ENSP00000376587:E290K;ENSP00000352456:E290K	ENSP00000352456:E290K	E	-	1	0	SLC33A1	157043010	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.380000	0.79704	2.626000	0.88956	0.456000	0.33151	GAA		0.338	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		6	46	0	0	0	0	6	46				
ZBBX	79740	broad.mit.edu	37	3	167033577	167033577	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:167033577G>C	ENST00000392766.2	-	15	1575	c.1235C>G	c.(1234-1236)cCt>cGt	p.P412R	ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000392764.1_Missense_Mutation_p.P383R|ZBBX_ENST00000392767.2_Missense_Mutation_p.P412R|ZBBX_ENST00000455345.2_Missense_Mutation_p.P412R|ZBBX_ENST00000307529.5_Missense_Mutation_p.P412R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	412						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AACTTTGTAAGGCACAATATT	0.303																																						uc003fep.2		NA																	0				ovary(2)	2						c.(1234-1236)CCT>CGT		zinc finger, B-box domain containing							75.0	71.0	72.0					3																	167033577		1815	4078	5893	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167033577G>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1235C>G	3.37:g.167033577G>C	ENSP00000376519:p.Pro412Arg					ZBBX_uc011bpc.1_Missense_Mutation_p.P412R|ZBBX_uc003feq.2_Missense_Mutation_p.P383R	p.P412R	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			15	1558	-			412					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1235C>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460227	0.43736	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11930	2.9;2.9;2.9;2.9;2.73	5.84	4.97	0.65823	.	0.498381	0.20833	N	0.084846	T	0.28167	0.0695	L	0.59436	1.845	0.30365	N	0.783462	D;D	0.59767	0.979;0.986	P;P	0.59487	0.858;0.796	T	0.15636	-1.0430	10	0.87932	D	0	-7.5767	10.864	0.46844	0.0864:0.0:0.9136:0.0	.	412;412	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	412;412;412;412;383	ENSP00000376519:P412R;ENSP00000376520:P412R;ENSP00000390232:P412R;ENSP00000305065:P412R;ENSP00000376517:P383R	ENSP00000305065:P412R	P	-	2	0	ZBBX	168516271	1.000000	0.71417	0.739000	0.30968	0.362000	0.29581	3.006000	0.49529	1.471000	0.48121	0.650000	0.86243	CCT		0.303	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		10	41	0	0	0	0	10	41				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	62	0	0	0	0	8	62				
HTR3D	200909	broad.mit.edu	37	3	183756393	183756393	+	Silent	SNP	C	C	T	rs267599708		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:183756393C>T	ENST00000382489.3	+	7	1116	c.1116C>T	c.(1114-1116)ctC>ctT	p.L372L	HTR3D_ENST00000428798.2_Silent_p.L322L|HTR3D_ENST00000334128.2_Silent_p.L197L|HTR3D_ENST00000453435.1_Silent_p.L151L	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	372					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	GCCCGGGTCTCACCCCCACCC	0.642																																						uc011bqv.1		NA																	0					0						c.(1114-1116)CTC>CTT		5-hydroxytryptamine receptor 3 subunit D isoform							24.0	28.0	27.0					3																	183756393		2202	4299	6501	SO:0001819	synonymous_variant	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756393C>T	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.1116C>T	3.37:g.183756393C>T						HTR3D_uc003fmj.2_Silent_p.L197L|HTR3D_uc011bqu.1_Silent_p.L322L|HTR3D_uc010hxp.2_Silent_p.L151L	p.L372L	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		7	1116	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		372			Cytoplasmic (Potential).		C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Silent	SNP	ENST00000382489.3	37	c.1116C>T	CCDS54685.1																																																																																				0.642	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537		4	30	0	0	0	0	4	30				
ECE2	9718	broad.mit.edu	37	3	184005699	184005699	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:184005699C>T	ENST00000402825.3	+	11	1692	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	ECE2_ENST00000404464.3_Silent_p.F446F|ECE2_ENST00000359140.4_Silent_p.F417F|ECE2_ENST00000357474.5_Silent_p.F492F|EIF2B5_ENST00000444495.1_Intron	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	564	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCCCTCTTCGTGAAGGCCA	0.498																																						uc003fni.3		NA																	0				ovary(2)|skin(2)	4						c.(1690-1692)TTC>TTT		endothelin converting enzyme 2 isoform A							106.0	92.0	97.0					3																	184005699		2203	4300	6503	SO:0001819	synonymous_variant	9718				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity	g.chr3:184005699C>T	AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.1692C>T	3.37:g.184005699C>T						ECE2_uc011brh.1_Silent_p.F417F|ECE2_uc003fnl.3_Silent_p.F492F|ECE2_uc003fnm.3_Silent_p.F446F|ECE2_uc003fnk.3_Silent_p.F417F|ECE2_uc011bri.1_Silent_p.F479F|ECE2_uc010hxv.2_Silent_p.F208F	p.F564F	NM_014693	NP_055508	O60344	ECE2_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		11	1730	+	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		564			Lumenal (Potential).|Endothelin-converting enzyme 2 region.		A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Silent	SNP	ENST00000402825.3	37	c.1692C>T	CCDS3256.2																																																																																				0.498	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318874.3	NM_014693		15	58	0	0	0	0	15	58				
CHRD	8646	broad.mit.edu	37	3	184104374	184104374	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:184104374C>G	ENST00000204604.1	+	16	2273	c.2027C>G	c.(2026-2028)tCt>tGt	p.S676C	CHRD_ENST00000545352.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.S636C|CHRD_ENST00000450923.1_Missense_Mutation_p.S676C|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	676					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GATACAGCCTCTGCTGCGCCG	0.711																																						uc003fov.2		NA																	0				skin(2)|ovary(1)	3						c.(2026-2028)TCT>TGT		chordin precursor							5.0	7.0	6.0					3																	184104374		2011	4024	6035	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104374C>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2027C>G	3.37:g.184104374C>G	ENSP00000204604:p.Ser676Cys					CHRD_uc003fow.2_Missense_Mutation_p.S306C|CHRD_uc003fox.2_Missense_Mutation_p.S676C|CHRD_uc003foy.2_Missense_Mutation_p.S306C|CHRD_uc010hyc.2_Missense_Mutation_p.S266C|CHRD_uc011brr.1_Intron	p.S676C	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2273	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		676					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.2027C>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770735	0.31320	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14766	2.7;2.48;2.48	4.18	3.3	0.37823	.	1.212270	0.05740	N	0.601187	T	0.10809	0.0264	N	0.14661	0.345	0.22435	N	0.999101	B;B;P	0.36027	0.415;0.391;0.533	B;B;B	0.37346	0.247;0.235;0.235	T	0.35847	-0.9772	10	0.48119	T	0.1	0.212	8.9116	0.35557	0.0:0.8909:0.0:0.1091	.	636;676;676	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	C	676;676;636;389	ENSP00000204604:S676C;ENSP00000408972:S676C;ENSP00000334036:S636C	ENSP00000204604:S676C	S	+	2	0	CHRD	185587068	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.821000	0.04452	1.052000	0.40392	0.557000	0.71058	TCT		0.711	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741		5	10	0	0	0	0	5	10				
RTP1	132112	broad.mit.edu	37	3	186917628	186917628	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:186917628G>A	ENST00000312295.4	+	2	592	c.562G>A	c.(562-564)Gga>Aga	p.G188R	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	188					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GCGGCACCGCGGAGAGTTCTG	0.692																																						uc003frg.2		NA																	0				ovary(2)|breast(1)	3						c.(562-564)GGA>AGA		receptor transporting protein 1							31.0	31.0	31.0					3																	186917628		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917628G>A	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.562G>A	3.37:g.186917628G>A	ENSP00000311712:p.Gly188Arg						p.G188R	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	592	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		188			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000312295.4	37	c.562G>A	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001767	0.35320	.	.	ENSG00000175077	ENST00000312295	T	0.19532	2.14	5.7	3.83	0.44106	.	0.421415	0.28606	N	0.014756	T	0.11922	0.0290	N	0.17082	0.46	0.21386	N	0.999709	B	0.27951	0.195	B	0.21917	0.037	T	0.18335	-1.0340	10	0.52906	T	0.07	.	8.1558	0.31167	0.1947:0.0:0.8053:0.0	.	188	P59025	RTP1_HUMAN	R	188	ENSP00000311712:G188R	ENSP00000311712:G188R	G	+	1	0	RTP1	188400322	0.402000	0.25311	0.616000	0.29078	0.781000	0.44180	0.631000	0.24568	0.704000	0.31869	-0.367000	0.07326	GGA		0.692	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		10	37	0	0	0	0	10	37				
MB21D2	151963	broad.mit.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																						uc011bsp.1		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(931-933)CAG>GAG		hypothetical protein LOC151963							34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001583	missense	151963							g.chr3:192516720G>C	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu						p.Q311E	NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)	2	1252	-	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		311					Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	c.931C>G	CCDS3302.2	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		14	48	0	0	0	0	14	48				
LSG1	55341	broad.mit.edu	37	3	194362968	194362968	+	Silent	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:194362968C>G	ENST00000265245.5	-	14	2120	c.1806G>C	c.(1804-1806)gtG>gtC	p.V602V	AC046143.3_ENST00000447139.1_RNA	NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	602					GTP catabolic process (GO:0006184)|nuclear export (GO:0051168)|protein transport (GO:0015031)|ribosome biogenesis (GO:0042254)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		TCAAAGCCCTCACATTCTCCT	0.488																																						uc003fui.2		NA																	0					0						c.(1804-1806)GTG>GTC		large subunit GTPase 1							52.0	52.0	52.0					3																	194362968		2203	4300	6503	SO:0001819	synonymous_variant	55341				nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity	g.chr3:194362968C>G		CCDS33922.1	3q29	2013-08-21	2013-08-21		ENSG00000041802	ENSG00000041802			25652	protein-coding gene	gene with protein product		610780	"""large subunit GTPase 1 homolog (S. cerevisiae)"""			11230166	Standard	NM_018385		Approved	FLJ11301	uc003fui.3	Q9H089	OTTHUMG00000156021	ENST00000265245.5:c.1806G>C	3.37:g.194362968C>G							p.V602V	NM_018385	NP_060855	Q9H089	LSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)	14	2121	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		602					A0JLT4|A0PJK3|A6NI18|Q7L9H8|Q9NUK8	Silent	SNP	ENST00000265245.5	37	c.1806G>C	CCDS33922.1																																																																																				0.488	LSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342740.1	NM_018385		14	53	0	0	0	0	14	53				
XXYLT1	152002	broad.mit.edu	37	3	194991445	194991445	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:194991445G>A	ENST00000310380.6	-	1	451	c.343C>T	c.(343-345)Cag>Tag	p.Q115*		NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	115						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										GCCTTGGCCTGCAGCGCGGCA	0.687																																						uc003fum.3		NA																	0					0						c.(343-345)CAG>TAG		hypothetical protein LOC152002							10.0	12.0	11.0					3																	194991445		1857	4009	5866	SO:0001587	stop_gained	152002					integral to membrane	transferase activity, transferring glycosyl groups	g.chr3:194991445G>A	AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.343C>T	3.37:g.194991445G>A	ENSP00000309640:p.Gln115*						p.Q115*	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)	1	451	-	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		115					D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Nonsense_Mutation	SNP	ENST00000310380.6	37	c.343C>T	CCDS43188.1	.	.	.	.	.	.	.	.	.	.	G	39	7.467139	0.98302	.	.	ENSG00000173950	ENST00000310380	.	.	.	4.64	4.64	0.57946	.	0.304231	0.37530	N	0.002044	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-36.9098	11.0461	0.47859	0.0909:0.0:0.9091:0.0	.	.	.	.	X	115	.	ENSP00000309640:Q115X	Q	-	1	0	C3orf21	196472734	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.910000	0.69931	2.553000	0.86117	0.650000	0.86243	CAG		0.687	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342290.1	NM_152531		10	22	0	0	0	0	10	22				
ADRA2C	152	broad.mit.edu	37	4	3768899	3768899	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:3768899C>G	ENST00000330055.5	+	1	775	c.566C>G	c.(565-567)tCg>tGg	p.S189W	ADRA2C_ENST00000509482.1_Missense_Mutation_p.S189W	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	189					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CCGCTGGTCTCGCTCTACCGC	0.677																																					Esophageal Squamous(12;454 628 4517 14479)	uc003ghm.2		NA																	0					0						c.(565-567)TCG>TGG		alpha-2C-adrenergic receptor	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)						17.0	19.0	19.0					4																	3768899		2193	4291	6484	SO:0001583	missense	152				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	g.chr4:3768899C>G	AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.566C>G	4.37:g.3768899C>G	ENSP00000386069:p.Ser189Trp					ADRA2C_uc010icx.2_Missense_Mutation_p.S189W	p.S189W	NM_000683	NP_000674	P18825	ADA2C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	604	+			189			Helical; Name=4; (By similarity).		P35369|Q9HB49	Missense_Mutation	SNP	ENST00000330055.5	37	c.566C>G	CCDS47004.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513636	0.64522	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.72167	-0.63;-0.63	3.37	3.37	0.38596	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.79281	0.4419	L	0.50847	1.595	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.993	T	0.81245	-0.1020	9	0.62326	D	0.03	.	13.8998	0.63797	0.0:1.0:0.0:0.0	.	189;189	D6RGL0;P18825	.;ADA2C_HUMAN	W	189	ENSP00000426268:S189W;ENSP00000386069:S189W	ENSP00000386069:S189W	S	+	2	0	ADRA2C	3738697	0.996000	0.38824	0.964000	0.40570	0.710000	0.40934	4.370000	0.59517	1.706000	0.51276	0.561000	0.74099	TCG		0.677	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357607.1	NM_000683		3	4	0	0	0	0	3	4				
CLOCK	9575	broad.mit.edu	37	4	56310930	56310930	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:56310930C>A	ENST00000309964.4	-	18	1812	c.1562G>T	c.(1561-1563)gGa>gTa	p.G521V	CLOCK_ENST00000513440.1_Missense_Mutation_p.G521V|CLOCK_ENST00000381322.1_Missense_Mutation_p.G521V	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	521	Implicated in the circadian rhythmicity. {ECO:0000250}.|Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.|Interaction with SIRT1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|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 (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TTGCATGGCTCCTAATTGAGC	0.338																																						uc003haz.1		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1561-1563)GGA>GTA		clock							163.0	143.0	150.0					4																	56310930		2203	4300	6503	SO:0001583	missense	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56310930C>A	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1562G>T	4.37:g.56310930C>A	ENSP00000308741:p.Gly521Val					CLOCK_uc003hba.1_Missense_Mutation_p.G521V|CLOCK_uc010igu.1_RNA	p.G521V	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		20	2488	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		521			Implicated in the circadian rhythmicity (By similarity).		A0AV01|A2I2N9|O14516|Q9UIT8	Missense_Mutation	SNP	ENST00000309964.4	37	c.1562G>T	CCDS3500.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506766	0.85282	.	.	ENSG00000134852	ENST00000309964;ENST00000381322;ENST00000513440	T;T;T	0.04360	3.64;3.64;3.64	5.93	5.93	0.95920	.	0.301062	0.38663	N	0.001610	T	0.14657	0.0354	M	0.66939	2.045	0.80722	D	1	P	0.52692	0.955	P	0.49597	0.616	T	0.00026	-1.2310	10	0.72032	D	0.01	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	521	O15516	CLOCK_HUMAN	V	521	ENSP00000308741:G521V;ENSP00000370723:G521V;ENSP00000426983:G521V	ENSP00000308741:G521V	G	-	2	0	CLOCK	56005687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.373000	0.66162	2.814000	0.96858	0.563000	0.77884	GGA		0.338	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898		19	24	1	0	6.5e-13	6.98e-13	19	24				
SLC4A4	8671	broad.mit.edu	37	4	72397811	72397811	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:72397811C>T	ENST00000264485.5	+	17	2316	c.2199C>T	c.(2197-2199)atC>atT	p.I733I	SLC4A4_ENST00000351898.6_Silent_p.I733I|SLC4A4_ENST00000340595.3_Silent_p.I689I|SLC4A4_ENST00000425175.1_Silent_p.I733I	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	733					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TTGCCATTATCTTGTCCATTC	0.378																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2197-2199)ATC>ATT		solute carrier family 4, sodium bicarbonate							140.0	123.0	128.0					4																	72397811		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72397811C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2199C>T	4.37:g.72397811C>T						SLC4A4_uc010iic.2_Silent_p.I733I|SLC4A4_uc010iib.2_Silent_p.I733I|SLC4A4_uc003hfz.2_Silent_p.I733I|SLC4A4_uc003hgc.3_Silent_p.I689I|SLC4A4_uc010iid.2_5'UTR	p.I733I	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		17	2316	+			733			Helical; (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.2199C>T	CCDS43236.1																																																																																				0.378	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		13	38	0	0	0	0	13	38				
TIGD2	166815	broad.mit.edu	37	4	90034531	90034531	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:90034531C>G	ENST00000317005.2	+	1	564	c.406C>G	c.(406-408)Cca>Gca	p.P136A	FAM13A_ENST00000502459.1_5'Flank|RP11-84C13.1_ENST00000603357.1_lincRNA	NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	136	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		Ccatggtattccaaaggctgc	0.398																																						uc003hsk.2		NA																	0					0						c.(406-408)CCA>GCA		tigger transposable element derived 2							67.0	67.0	67.0					4																	90034531		2133	4289	6422	SO:0001583	missense	166815				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr4:90034531C>G	AK027653	CCDS3633.1	4q21.3	2013-02-21			ENSG00000180346	ENSG00000180346			18333	protein-coding gene	gene with protein product		612973					Standard	NM_145715		Approved		uc003hsk.3	Q4W5G0	OTTHUMG00000130946	ENST00000317005.2:c.406C>G	4.37:g.90034531C>G	ENSP00000317170:p.Pro136Ala					FAM13A_uc003hsh.1_5'Flank	p.P136A	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)	1	564	+		Hepatocellular(203;0.114)	136			HTH CENPB-type.			Missense_Mutation	SNP	ENST00000317005.2	37	c.406C>G	CCDS3633.1	.	.	.	.	.	.	.	.	.	.	c	7.602	0.673050	0.14776	.	.	ENSG00000180346	ENST00000317005	T	0.21932	1.98	4.02	2.16	0.27623	Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (2);	0.198950	0.24891	U	0.034763	T	0.04272	0.0118	N	0.00583	-1.355	0.23936	N	0.996417	B	0.22909	0.077	B	0.20384	0.029	T	0.36138	-0.9760	10	0.16420	T	0.52	-3.7707	3.516	0.07725	0.1996:0.5824:0.0:0.2179	.	136	Q4W5G0	TIGD2_HUMAN	A	136	ENSP00000317170:P136A	ENSP00000317170:P136A	P	+	1	0	TIGD2	90253554	0.956000	0.32656	1.000000	0.80357	0.998000	0.95712	1.274000	0.33132	0.920000	0.36970	0.546000	0.68486	CCA		0.398	TIGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253545.2	NM_145715		20	46	0	0	0	0	20	46				
FGG	2266	broad.mit.edu	37	4	155530881	155530881	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr4:155530881C>T	ENST00000336098.3	-	6	605	c.567G>A	c.(565-567)caG>caA	p.Q189Q	FGG_ENST00000404648.3_Silent_p.Q189Q|FGG_ENST00000407946.1_Silent_p.Q197Q|FGG_ENST00000405164.1_Silent_p.Q197Q	NM_021870.2	NP_068656.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	189	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AAAGCCCGCTCTGTTTAGCTC	0.418																																						uc003ioj.2		NA																	0					0						c.(565-567)CAG>CAA		fibrinogen, gamma chain isoform gamma-B	Sucralfate(DB00364)						106.0	103.0	104.0					4																	155530881		2203	4300	6503	SO:0001819	synonymous_variant	2266				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155530881C>T		CCDS3788.1, CCDS47153.1	4q28	2014-09-17			ENSG00000171557	ENSG00000171557		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3694	protein-coding gene	gene with protein product		134850	"""fibrinogen, gamma polypeptide"""				Standard	NM_000509		Approved		uc003ioj.3	P02679	OTTHUMG00000150329	ENST00000336098.3:c.567G>A	4.37:g.155530881C>T						FGG_uc003iog.2_Silent_p.Q189Q|FGG_uc003ioh.2_Silent_p.Q197Q|FGG_uc010ipx.2_Silent_p.Q17Q|FGG_uc010ipy.2_5'UTR|FGG_uc003ioi.2_5'UTR|FGG_uc003iok.2_Silent_p.Q197Q	p.Q189Q	NM_021870	NP_068656	P02679	FIBG_HUMAN			6	708	-	all_hematologic(180;0.215)	Renal(120;0.0458)	189			Fibrinogen C-terminal.		A8K057|P04469|P04470|Q53Y18|Q96A14|Q96KJ3|Q9UC62|Q9UC63|Q9UCF3	Silent	SNP	ENST00000336098.3	37	c.567G>A	CCDS3788.1																																																																																				0.418	FGG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317581.1	NM_021870		17	57	0	0	0	0	17	57				
TRIO	7204	broad.mit.edu	37	5	14368963	14368963	+	Silent	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:14368963C>G	ENST00000344204.4	+	17	3045	c.3021C>G	c.(3019-3021)ctC>ctG	p.L1007L	TRIO_ENST00000537187.1_Silent_p.L1007L|TRIO_ENST00000509967.2_Silent_p.L958L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1007					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AAGATCGCCTCAAGCTCGTCA	0.522																																						uc003jff.2		NA																	0				skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(3019-3021)CTC>CTG		triple functional domain (PTPRF interacting)							163.0	141.0	149.0					5																	14368963		2203	4300	6503	SO:0001819	synonymous_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14368963C>G	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3021C>G	5.37:g.14368963C>G						TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Silent_p.L958L|TRIO_uc003jfh.1_Silent_p.L656L	p.L1007L	NM_007118	NP_009049	O75962	TRIO_HUMAN			17	3027	+	Lung NSC(4;0.000742)		1007					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	c.3021C>G	CCDS3883.1																																																																																				0.522	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		10	68	0	0	0	0	10	68				
PDZD2	23037	broad.mit.edu	37	5	32088427	32088427	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:32088427C>G	ENST00000438447.1	+	20	5261	c.4873C>G	c.(4873-4875)Cct>Gct	p.P1625A	PDZD2_ENST00000282493.3_Missense_Mutation_p.P1625A			O15018	PDZD2_HUMAN	PDZ domain containing 2	1625					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TGCCATCTGTCCTGCCTCAGC	0.557																																						uc003jhl.2		NA																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(4873-4875)CCT>GCT		PDZ domain containing 2							110.0	117.0	115.0					5																	32088427		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32088427C>G	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.4873C>G	5.37:g.32088427C>G	ENSP00000402033:p.Pro1625Ala					PDZD2_uc003jhm.2_Missense_Mutation_p.P1625A	p.P1625A	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	5261	+			1625					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.4873C>G	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028125	0.35797	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.30981	1.51;1.51	5.36	4.48	0.54585	.	0.000000	0.52532	D	0.000070	T	0.30978	0.0782	L	0.56769	1.78	0.21627	N	0.999612	B	0.15141	0.012	B	0.11329	0.006	T	0.20840	-1.0263	10	0.46703	T	0.11	.	12.3232	0.54997	0.0:0.8307:0.1693:0.0	.	1625	O15018	PDZD2_HUMAN	A	1625;1426;1625	ENSP00000402033:P1625A;ENSP00000282493:P1625A	ENSP00000282493:P1625A	P	+	1	0	PDZD2	32124184	0.001000	0.12720	0.497000	0.27552	0.014000	0.08584	0.839000	0.27586	1.241000	0.43820	0.655000	0.94253	CCT		0.557	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			54	124	0	0	0	0	54	124				
HCN1	348980	broad.mit.edu	37	5	45353208	45353208	+	Silent	SNP	C	C	T	rs561869170		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:45353208C>T	ENST00000303230.4	-	5	1428	c.1371G>A	c.(1369-1371)ctG>ctA	p.L457L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	457					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.L457L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTACCTCTCTCAGAGGATCAT	0.343																																						uc003jok.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1369-1371)CTG>CTA		hyperpolarization activated cyclic							107.0	99.0	102.0					5																	45353208		2201	4296	6497	SO:0001819	synonymous_variant	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45353208C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1371G>A	5.37:g.45353208C>T							p.L457L	NM_021072	NP_066550	O60741	HCN1_HUMAN			5	1396	-			457			Cytoplasmic (Potential).			Silent	SNP	ENST00000303230.4	37	c.1371G>A	CCDS3952.1																																																																																				0.343	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		13	32	0	0	0	0	13	32				
MAP1B	4131	broad.mit.edu	37	5	71494584	71494584	+	Missense_Mutation	SNP	C	C	T	rs368052791		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:71494584C>T	ENST00000296755.7	+	5	5700	c.5402C>T	c.(5401-5403)tCa>tTa	p.S1801L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1801					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCTACTTTTTCAGATTCTACC	0.473																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5401-5403)TCA>TTA		microtubule-associated protein 1B		C	LEU/SER	0,4406		0,0,2203	48.0	52.0	51.0		5402	5.4	1.0	5		51	2,8598	2.2+/-6.3	0,2,4298	no	missense	MAP1B	NM_005909.3	145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	1801/2469	71494584	2,13004	2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494584C>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5402C>T	5.37:g.71494584C>T	ENSP00000296755:p.Ser1801Leu					MAP1B_uc010iyw.1_Missense_Mutation_p.S1818L|MAP1B_uc010iyx.1_Missense_Mutation_p.S1675L|MAP1B_uc010iyy.1_Missense_Mutation_p.S1675L	p.S1801L	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5643	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1801					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5402C>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072424	0.55646	0.0	2.33E-4	ENSG00000131711	ENST00000296755	T	0.03413	3.94	5.36	5.36	0.76844	.	0.127277	0.36234	N	0.002710	T	0.04998	0.0134	L	0.27053	0.805	0.47905	D	0.999546	P;P	0.43094	0.799;0.799	B;B	0.40901	0.343;0.343	T	0.48328	-0.9045	10	0.52906	T	0.07	-11.4248	19.4389	0.94809	0.0:1.0:0.0:0.0	.	1675;1801	A2BDK6;P46821	.;MAP1B_HUMAN	L	1801	ENSP00000296755:S1801L	ENSP00000296755:S1801L	S	+	2	0	MAP1B	71530340	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.381000	0.59587	2.677000	0.91161	0.551000	0.68910	TCA		0.473	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		13	63	0	0	0	0	13	63				
ENC1	8507	broad.mit.edu	37	5	73931590	73931590	+	Missense_Mutation	SNP	G	G	C	rs529251638		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:73931590G>C	ENST00000302351.4	-	2	1851	c.721C>G	c.(721-723)Ctg>Gtg	p.L241V	ENC1_ENST00000537006.1_Missense_Mutation_p.L241V|ENC1_ENST00000510316.1_Missense_Mutation_p.L168V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	241					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATGGCTGGCAGAAGTGCCAGC	0.483																																						uc003kdc.3		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(721-723)CTG>GTG		ectodermal-neural cortex (with BTB-like domain)							72.0	79.0	76.0					5																	73931590		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931590G>C	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.721C>G	5.37:g.73931590G>C	ENSP00000306356:p.Leu241Val					ENC1_uc011css.1_Missense_Mutation_p.L168V	p.L241V	NM_003633	NP_003624	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1852	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	241					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.721C>G	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	G	13.80	2.345838	0.41599	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.75367	-0.93;-0.93;-0.93	5.8	4.75	0.60458	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.78629	0.4313	M	0.64567	1.98	0.58432	D	0.99999	P	0.44816	0.844	P	0.51806	0.68	T	0.80379	-0.1407	10	0.87932	D	0	.	11.78	0.52008	0.1869:0.0:0.8131:0.0	.	241	O14682	ENC1_HUMAN	V	241;168;241	ENSP00000306356:L241V;ENSP00000423804:L168V;ENSP00000446289:L241V	ENSP00000306356:L241V	L	-	1	2	ENC1	73967346	0.748000	0.28294	0.994000	0.49952	0.625000	0.37756	1.103000	0.31062	2.758000	0.94735	0.561000	0.74099	CTG		0.483	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		22	65	0	0	0	0	22	65				
ANKRD34B	340120	broad.mit.edu	37	5	79855801	79855801	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:79855801G>T	ENST00000338682.3	-	5	710	c.38C>A	c.(37-39)tCc>tAc	p.S13Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	13						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		TTTGATCAAGGAATTTCCTTC	0.458																																						uc010jam.2		NA																	0				pancreas(1)	1						c.(37-39)TCC>TAC		ankyrin repeat domain 34B							46.0	47.0	46.0					5																	79855801		2203	4300	6503	SO:0001583	missense	340120					cytoplasm|nucleus		g.chr5:79855801G>T		CCDS34194.1	5q14.1	2014-08-12			ENSG00000189127	ENSG00000189127		"""Ankyrin repeat domain containing"""	33736	protein-coding gene	gene with protein product							Standard	NM_001004441		Approved	DP58	uc003kgw.3	A5PLL1	OTTHUMG00000162541	ENST00000338682.3:c.38C>A	5.37:g.79855801G>T	ENSP00000339802:p.Ser13Tyr					ANKRD34B_uc003kgw.2_Missense_Mutation_p.S13Y|ANKRD34B_uc010jan.2_Missense_Mutation_p.S13Y	p.S13Y	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)	4	388	-		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)	13			ANK 1.		B2RPH1|Q68D79	Missense_Mutation	SNP	ENST00000338682.3	37	c.38C>A	CCDS34194.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.731247	0.48939	.	.	ENSG00000189127	ENST00000338682;ENST00000508916	T	0.33654	1.4	5.92	5.05	0.67936	Ankyrin repeat-containing domain (2);	0.217756	0.39834	U	0.001241	T	0.53270	0.1786	L	0.58101	1.795	0.58432	D	0.999995	D	0.71674	0.998	P	0.60789	0.879	T	0.57694	-0.7767	10	0.87932	D	0	-13.2959	15.2008	0.73136	0.0:0.0:0.858:0.142	.	13	A5PLL1	AN34B_HUMAN	Y	13	ENSP00000339802:S13Y	ENSP00000339802:S13Y	S	-	2	0	ANKRD34B	79891557	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	9.770000	0.98971	1.485000	0.48380	0.561000	0.74099	TCC		0.458	ANKRD34B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369475.1	NM_001004441		15	58	1	0	1.57e-10	1.69e-10	15	58				
XRCC4	7518	broad.mit.edu	37	5	82491695	82491695	+	Missense_Mutation	SNP	A	A	C	rs374892515		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:82491695A>C	ENST00000511817.1	+	4	502	c.422A>C	c.(421-423)aAt>aCt	p.N141T	XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000282268.3_Missense_Mutation_p.N141T|XRCC4_ENST00000338635.6_Missense_Mutation_p.N141T|XRCC4_ENST00000396027.4_Missense_Mutation_p.N141T			Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	141					cellular response to lithium ion (GO:0071285)|central nervous system development (GO:0007417)|DNA ligation involved in DNA repair (GO:0051103)|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)|immunoglobulin V(D)J recombination (GO:0033152)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ligase activity (GO:0051351)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytosol (GO:0005829)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CAAGCCAAAAATGAGCACCTG	0.403								Non-homologous end-joining																														uc003kib.2		NA																	0				skin(3)	3						c.(421-423)AAT>ACT	NHEJ	X-ray repair cross complementing protein 4							76.0	79.0	78.0					5																	82491695		2203	4300	6503	SO:0001583	missense	7518				DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding	g.chr5:82491695A>C	AB017445	CCDS4058.1, CCDS4059.1	5q14.2	2008-02-05			ENSG00000152422	ENSG00000152422			12831	protein-coding gene	gene with protein product	"""X-ray repair, complementing defective, repair in Chinese hamster"", ""DNA repair protein XRCC4"""	194363				1697445, 7665175	Standard	NM_022406		Approved		uc003kib.3	Q13426	OTTHUMG00000131319	ENST00000511817.1:c.422A>C	5.37:g.82491695A>C	ENSP00000421491:p.Asn141Thr					XRCC4_uc003kia.1_Missense_Mutation_p.N141T|XRCC4_uc003kid.2_Missense_Mutation_p.N141T|XRCC4_uc003kic.2_Missense_Mutation_p.N141T|XRCC4_uc003kie.2_Missense_Mutation_p.N141T|XRCC4_uc003kif.1_Missense_Mutation_p.N141T	p.N141T	NM_022406	NP_071801	Q13426	XRCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)	4	550	+		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)	141			Potential.		A8K3X4|Q9BS72|Q9UP94	Missense_Mutation	SNP	ENST00000511817.1	37	c.422A>C	CCDS4059.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673706	0.67928	.	.	ENSG00000152422	ENST00000282268;ENST00000338635;ENST00000396027;ENST00000511817	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	5.56	4.37	0.52481	DNA double-strand break repair and VJ recombination XRCC4, C-terminal (1);	0.045701	0.85682	N	0.000000	T	0.33206	0.0855	M	0.77103	2.36	0.44447	D	0.997376	D;D;D	0.58970	0.98;0.984;0.965	P;P;P	0.52672	0.581;0.706;0.581	T	0.33777	-0.9855	10	0.08179	T	0.78	-14.905	12.5129	0.56015	0.8602:0.1398:0.0:0.0	.	141;141;141	Q13426-2;Q13426;Q13426-3	.;XRCC4_HUMAN;.	T	141	ENSP00000282268:N141T;ENSP00000342011:N141T;ENSP00000379344:N141T;ENSP00000421491:N141T	ENSP00000282268:N141T	N	+	2	0	XRCC4	82527451	1.000000	0.71417	0.983000	0.44433	0.849000	0.48306	3.265000	0.51561	1.008000	0.39264	0.477000	0.44152	AAT		0.403	XRCC4-003	NOVEL	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369624.1	NM_022550		10	72	0	0	0	0	10	72				
GPR98	84059	broad.mit.edu	37	5	89943367	89943367	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:89943367C>T	ENST00000405460.2	+	17	3171	c.3075C>T	c.(3073-3075)ctC>ctT	p.L1025L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1025	Calx-beta 8. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTACAGTTCTCAGAAATGGAT	0.433																																						uc003kju.2		NA																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(3073-3075)CTC>CTT		G protein-coupled receptor 98 precursor							153.0	140.0	144.0					5																	89943367		1927	4132	6059	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89943367C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3075C>T	5.37:g.89943367C>T						GPR98_uc003kjt.2_5'UTR	p.L1025L	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	17	3171	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1025			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.3075C>T	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	9.294	1.051345	0.19827	.	.	ENSG00000164199	ENST00000504142	.	.	.	5.5	-0.738	0.11125	.	.	.	.	.	.	.	.	.	.	.	0.50632	D	0.999885	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.5138	0.00600	0.2589:0.3181:0.2039:0.2191	.	.	.	.	X	614	.	.	Q	+	1	0	GPR98	89979123	0.392000	0.25229	0.818000	0.32626	0.964000	0.63967	-0.347000	0.07750	0.124000	0.18369	0.655000	0.94253	CAG		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		20	40	0	0	0	0	20	40				
TTC37	9652	broad.mit.edu	37	5	94876457	94876457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:94876457C>T	ENST00000358746.2	-	8	778	c.480G>A	c.(478-480)tgG>tgA	p.W160*		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	160						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TCAATTTTCTCCATAGTTGAT	0.378																																						uc003klb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(478-480)TGG>TGA		tetratricopeptide repeat domain 37							172.0	166.0	168.0					5																	94876457		2203	4300	6503	SO:0001587	stop_gained	9652						binding	g.chr5:94876457C>T	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.480G>A	5.37:g.94876457C>T	ENSP00000351596:p.Trp160*					TTC37_uc010jbf.1_Nonsense_Mutation_p.W112*	p.W160*	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			8	750	-			160					O15077|Q6PJI3	Nonsense_Mutation	SNP	ENST00000358746.2	37	c.480G>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901136	0.52227	.	.	ENSG00000198677	ENST00000358746;ENST00000514952	.	.	.	5.49	4.61	0.57282	.	0.130458	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	15.5438	0.76077	0.1391:0.8609:0.0:0.0	.	.	.	.	X	160;112	.	ENSP00000351596:W160X	W	-	3	0	TTC37	94902213	1.000000	0.71417	0.886000	0.34754	0.032000	0.12392	6.093000	0.71422	1.260000	0.44134	0.650000	0.86243	TGG		0.378	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		27	65	0	0	0	0	27	65				
RAD50	10111	broad.mit.edu	37	5	131915735	131915735	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:131915735G>A	ENST00000265335.6	+	5	1120	c.733G>A	c.(733-735)Gag>Aag	p.E245K	RAD50_ENST00000378823.3_Missense_Mutation_p.E106K|RAD50_ENST00000487596.1_3'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	245					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAAATCCTATGAGAATGAACT	0.294								Homologous recombination																														uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(733-735)GAG>AAG	Homologous_recombination	RAD50 homolog isoform 1							73.0	77.0	76.0					5																	131915735		2202	4300	6502	SO:0001583	missense	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131915735G>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.733G>A	5.37:g.131915735G>A	ENSP00000265335:p.Glu245Lys					RAD50_uc003kxg.1_Missense_Mutation_p.E146K|RAD50_uc003kxh.2_Missense_Mutation_p.E106K	p.E245K	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		5	1120	+		all_cancers(142;0.0368)|Breast(839;0.198)	245			Potential.		B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Missense_Mutation	SNP	ENST00000265335.6	37	c.733G>A	CCDS34233.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302797	0.81136	.	.	ENSG00000113522	ENST00000378823;ENST00000265335;ENST00000453394	T;T;T	0.14516	3.49;2.5;2.5	5.74	5.74	0.90152	.	0.043673	0.85682	D	0.000000	T	0.18002	0.0432	L	0.45228	1.405	0.80722	D	1	B	0.30104	0.268	B	0.35931	0.214	T	0.02464	-1.1155	10	0.33141	T	0.24	-19.8312	18.9071	0.92467	0.0:0.0:1.0:0.0	.	245	Q92878	RAD50_HUMAN	K	106;245;245	ENSP00000368100:E106K;ENSP00000265335:E245K;ENSP00000400049:E245K	ENSP00000265335:E245K	E	+	1	0	RAD50	131943634	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.628000	0.83189	2.707000	0.92482	0.655000	0.94253	GAG		0.294	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		33	66	0	0	0	0	33	66				
EGR1	1958	broad.mit.edu	37	5	137803417	137803417	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:137803417G>A	ENST00000239938.4	+	2	1551	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	427					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAAGAAAGCAGACAAAAGTGT	0.542																																						uc003ldb.1		NA																	0				ovary(1)	1						c.(1279-1281)GAC>AAC		early growth response 1							123.0	120.0	121.0					5																	137803417		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803417G>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1279G>A	5.37:g.137803417G>A	ENSP00000239938:p.Asp427Asn					EGR1_uc011cyu.1_Intron	p.D427N	NM_001964	NP_001955	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1549	+			427						Missense_Mutation	SNP	ENST00000239938.4	37	c.1279G>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039449	0.55003	.	.	ENSG00000120738	ENST00000239938	T	0.07327	3.2	4.29	4.29	0.51040	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.111700	0.64402	D	0.000013	T	0.11153	0.0272	L	0.50333	1.59	0.43255	D	0.995186	B	0.21606	0.058	B	0.21360	0.034	T	0.06232	-1.0838	10	0.72032	D	0.01	-23.0667	15.9073	0.79439	0.0:0.0:1.0:0.0	.	427	P18146	EGR1_HUMAN	N	427	ENSP00000239938:D427N	ENSP00000239938:D427N	D	+	1	0	EGR1	137831316	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.714000	0.84703	2.216000	0.71823	0.563000	0.77884	GAC		0.542	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964		12	32	0	0	0	0	12	32				
PSD2	84249	broad.mit.edu	37	5	139192996	139192996	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:139192996C>T	ENST00000274710.3	+	3	679	c.474C>T	c.(472-474)ctC>ctT	p.L158L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	158					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAGCCTCGACTCCCTAG	0.652																																						uc003leu.1		NA																	0				ovary(1)	1						c.(472-474)CTC>CTT		pleckstrin and Sec7 domain containing 2							40.0	43.0	42.0					5																	139192996		2203	4299	6502	SO:0001819	synonymous_variant	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139192996C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.474C>T	5.37:g.139192996C>T							p.L158L	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		3	679	+			158					D3DQD3|Q8N3J8	Silent	SNP	ENST00000274710.3	37	c.474C>T	CCDS4216.1																																																																																				0.652	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		27	59	0	0	0	0	27	59				
PCDHGA4	56111	broad.mit.edu	37	5	140735361	140735361	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:140735361C>T	ENST00000571252.1	+	1	594	c.594C>T	c.(592-594)cgC>cgT	p.R198R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGAACGCGCTCTAGATC	0.567																																						uc003ljq.1		NA																	0					0						c.(592-594)CGC>CGT		protocadherin gamma subfamily A, 4 isoform 1							27.0	30.0	29.0					5																	140735361		2160	4285	6445	SO:0001819	synonymous_variant	56111				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140735361C>T	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.594C>T	5.37:g.140735361C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.R198R	p.R198R	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	594	+			198			Extracellular (Potential).|Cadherin 2.		Q9Y5D3	Silent	SNP	ENST00000571252.1	37	c.594C>T	CCDS58979.1																																																																																				0.567	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437959.1	NM_018917		7	8	0	0	0	0	7	8				
PCDHGA12	26025	broad.mit.edu	37	5	140811312	140811312	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:140811312C>T	ENST00000252085.3	+	1	1128	c.986C>T	c.(985-987)gCg>gTg	p.A329V	PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	329	Cadherin 3. {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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGATATTCTGCGCGAGCCAAA	0.507																																						uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(985-987)GCG>GTG		protocadherin gamma subfamily A, 12 isoform 1							139.0	129.0	132.0					5																	140811312		2203	4300	6503	SO:0001583	missense	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140811312C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.986C>T	5.37:g.140811312C>T	ENSP00000252085:p.Ala329Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.A329V	p.A329V	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1155	+			329			Cadherin 3.|Extracellular (Potential).		O15100|Q6UW70|Q9Y5D7	Missense_Mutation	SNP	ENST00000252085.3	37	c.986C>T	CCDS4260.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.349792	0.41599	.	.	ENSG00000253159	ENST00000252085	T	0.03181	4.02	4.68	3.77	0.43336	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.10380	0.0254	M	0.75447	2.3	0.09310	N	1	P;P	0.51653	0.934;0.947	P;P	0.49276	0.469;0.605	T	0.11470	-1.0586	9	0.34782	T	0.22	.	14.1704	0.65506	0.0:0.8487:0.1513:0.0	.	329;329	O60330-2;O60330	.;PCDGC_HUMAN	V	329	ENSP00000252085:A329V	ENSP00000252085:A329V	A	+	2	0	PCDHGA12	140791496	0.000000	0.05858	0.053000	0.19242	0.974000	0.67602	-0.088000	0.11198	1.130000	0.42092	0.655000	0.94253	GCG		0.507	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		23	55	0	0	0	0	23	55				
SPRY4	81848	broad.mit.edu	37	5	141694650	141694650	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:141694650G>A	ENST00000434127.2	-	2	267	c.24C>T	c.(22-24)agC>agT	p.S8S	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Silent_p.S31S	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	8					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGGGGGCGCTCTGTGGGA	0.632									Testicular Cancer, Familial Clustering of																													uc003lml.2		NA																	0				ovary(1)|lung(1)	2						c.(22-24)AGC>AGT		sprouty homolog 4 isoform 2							18.0	21.0	20.0					5																	141694650		2144	4200	6344	SO:0001819	synonymous_variant	81848	Testicular_Cancer_Familial_Clustering_of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694650G>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.24C>T	5.37:g.141694650G>A						SPRY4_uc010jgi.1_Silent_p.S31S	p.S8S	NM_001127496	NP_001120968	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	283	-		all_hematologic(541;0.118)	8					A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	c.24C>T	CCDS47296.1																																																																																				0.632	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			10	21	0	0	0	0	10	21				
EBF1	1879	broad.mit.edu	37	5	158140039	158140039	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:158140039C>T	ENST00000313708.6	-	13	1590	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	EBF1_ENST00000380654.4_Silent_p.V405V|EBF1_ENST00000517373.1_Silent_p.V428V|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	436					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|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)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAACGAATTCACGCCCATCA	0.577			T	HMGA2	lipoma																																	uc010jip.2		NA		Dom	yes		5	5q34	1879	T	early B-cell factor 1			M	HMGA2		lipoma	HMGA2/EBF1(2)	0				soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(1306-1308)GTG>GTA		early B-cell factor							133.0	111.0	119.0					5																	158140039		2203	4300	6503	SO:0001819	synonymous_variant	1879				multicellular organismal development	nucleus	DNA binding|metal ion binding	g.chr5:158140039C>T	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1308G>A	5.37:g.158140039C>T						EBF1_uc011ddw.1_Silent_p.V304V|EBF1_uc011ddx.1_Silent_p.V437V|EBF1_uc003lxl.3_Silent_p.V405V	p.V436V	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		13	1610	-	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	436					Q8IW11	Silent	SNP	ENST00000313708.6	37	c.1308G>A	CCDS4343.1																																																																																				0.577	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		22	45	0	0	0	0	22	45				
TENM2	57451	broad.mit.edu	37	5	167645222	167645222	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr5:167645222G>A	ENST00000518659.1	+	23	4365	c.4326G>A	c.(4324-4326)gaG>gaA	p.E1442E	TENM2_ENST00000519204.1_Silent_p.E1321E|TENM2_ENST00000403607.2_Silent_p.E1266E|TENM2_ENST00000520394.1_Silent_p.E1203E|TENM2_ENST00000545108.1_Silent_p.E1441E	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1442					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GAATCACCGAGAACCACCAAG	0.507																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(4297-4299)GAG>GAA		odz, odd Oz/ten-m homolog 2							198.0	203.0	201.0					5																	167645222		2163	4267	6430	SO:0001819	synonymous_variant	57451							g.chr5:167645222G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4326G>A	5.37:g.167645222G>A						ODZ2_uc003lzr.3_Silent_p.E1203E|ODZ2_uc003lzt.3_Silent_p.E806E|ODZ2_uc010jje.2_Silent_p.E697E	p.E1433E	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	23	4299	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.4299G>A																																																																																					0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		43	110	0	0	0	0	43	110				
SERPINB1	1992	broad.mit.edu	37	6	2838863	2838863	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:2838863C>T	ENST00000380739.5	-	3	428	c.226G>A	c.(226-228)Gat>Aat	p.D76N	SERPINB1_ENST00000476896.1_5'UTR|SERPINB1_ENST00000537185.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	76					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		TTGTTGATATCAGCATTCAGA	0.338																																						uc003mub.2		NA																	0				breast(4)|ovary(1)	5						c.(226-228)GAT>AAT		serine (or cysteine) proteinase inhibitor, clade							78.0	80.0	79.0					6																	2838863		2203	4300	6503	SO:0001583	missense	1992				regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity	g.chr6:2838863C>T	M93056	CCDS4477.1	6p25.2	2014-02-18	2005-08-18		ENSG00000021355	ENSG00000021355		"""Serine (or cysteine) peptidase inhibitors"""	3311	protein-coding gene	gene with protein product		130135	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 1"""	ELANH2		1376927, 24172014	Standard	NM_030666		Approved	EI, PI2, anti-elastase	uc003mub.4	P30740	OTTHUMG00000014124	ENST00000380739.5:c.226G>A	6.37:g.2838863C>T	ENSP00000370115:p.Asp76Asn					SERPINB1_uc003muc.2_5'UTR	p.D76N	NM_030666	NP_109591	P30740	ILEU_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0717)	3	270	-	Ovarian(93;0.0412)		76					A8K5L2|B4DNT0|Q53FB9|Q5W0E1|Q9UDF8	Missense_Mutation	SNP	ENST00000380739.5	37	c.226G>A	CCDS4477.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.807585	0.50421	.	.	ENSG00000021355	ENST00000380739;ENST00000542771	D	0.84223	-1.82	5.44	2.66	0.31614	Serpin domain (3);	0.814291	0.11739	N	0.534199	T	0.68613	0.3020	N	0.25485	0.75	0.80722	D	1	B	0.30179	0.271	B	0.36092	0.217	T	0.65578	-0.6134	10	0.51188	T	0.08	.	10.8906	0.46994	0.0:0.782:0.0:0.218	.	76	P30740	ILEU_HUMAN	N	76;38	ENSP00000370115:D76N	ENSP00000370115:D76N	D	-	1	0	SERPINB1	2783862	0.714000	0.27936	0.244000	0.24202	0.646000	0.38490	2.752000	0.47516	0.788000	0.33755	0.655000	0.94253	GAT		0.338	SERPINB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039637.1			12	38	0	0	0	0	12	38				
ZNF184	7738	broad.mit.edu	37	6	27419348	27419348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:27419348G>A	ENST00000211936.6	-	6	2274	c.1990C>T	c.(1990-1992)Cac>Tac	p.H664Y	ZNF184_ENST00000377419.1_Missense_Mutation_p.H664Y	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCCCCAGTGTGAATTCGTTGA	0.423																																						uc003njj.2		NA																	0				ovary(1)	1						c.(1990-1992)CAC>TAC		zinc finger protein 184							97.0	103.0	101.0					6																	27419348		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419348G>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1990C>T	6.37:g.27419348G>A	ENSP00000211936:p.His664Tyr					ZNF184_uc010jqv.2_Missense_Mutation_p.H664Y|ZNF184_uc003nji.2_Missense_Mutation_p.H664Y	p.H664Y	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	2801	-			664			C2H2-type 16.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1990C>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.121200	0.77436	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.67523	-0.27;-0.27	4.85	4.85	0.62838	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000079	D	0.84293	0.5440	M	0.93720	3.45	0.48901	D	0.999723	D	0.89917	1.0	D	0.91635	0.999	D	0.87765	0.2601	10	0.87932	D	0	.	15.8458	0.78887	0.0:0.0:1.0:0.0	.	664	Q99676	ZN184_HUMAN	Y	664;664;580	ENSP00000211936:H664Y;ENSP00000366636:H664Y	ENSP00000211936:H664Y	H	-	1	0	ZNF184	27527327	1.000000	0.71417	0.975000	0.42487	0.997000	0.91878	9.316000	0.96319	2.696000	0.92011	0.591000	0.81541	CAC		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		24	45	0	0	0	0	24	45				
ZNF184	7738	broad.mit.edu	37	6	27419878	27419878	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:27419878G>A	ENST00000211936.6	-	6	1744	c.1460C>T	c.(1459-1461)tCa>tTa	p.S487L	ZNF184_ENST00000377419.1_Missense_Mutation_p.S487L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	487					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGTAAGGGATGAGCAGTAACT	0.403																																						uc003njj.2		NA																	0				ovary(1)	1						c.(1459-1461)TCA>TTA		zinc finger protein 184							86.0	80.0	82.0					6																	27419878		2203	4300	6503	SO:0001583	missense	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419878G>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1460C>T	6.37:g.27419878G>A	ENSP00000211936:p.Ser487Leu					ZNF184_uc010jqv.2_Missense_Mutation_p.S487L|ZNF184_uc003nji.2_Missense_Mutation_p.S487L	p.S487L	NM_007149	NP_009080	Q99676	ZN184_HUMAN			5	2271	-			487			C2H2-type 10.		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	c.1460C>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437487	0.62955	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.36520	1.25;1.25	5.27	5.27	0.74061	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000999	T	0.30885	0.0779	M	0.80422	2.495	0.39585	D	0.96949	B	0.28850	0.225	B	0.22152	0.038	T	0.29181	-1.0020	10	0.62326	D	0.03	.	16.4094	0.83703	0.0:0.0:1.0:0.0	.	487	Q99676	ZN184_HUMAN	L	487	ENSP00000211936:S487L;ENSP00000366636:S487L	ENSP00000211936:S487L	S	-	2	0	ZNF184	27527857	0.002000	0.14202	0.997000	0.53966	0.996000	0.88848	1.206000	0.32321	2.744000	0.94065	0.655000	0.94253	TCA		0.403	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		25	59	0	0	0	0	25	59				
GNL1	2794	broad.mit.edu	37	6	30521243	30521243	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:30521243G>A	ENST00000376621.3	-	6	1662	c.692C>T	c.(691-693)cCg>cTg	p.P231L		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	231	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cellular response to DNA damage stimulus (GO:0006974)|GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)|signal transduction (GO:0007165)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AAGAGCTGGCGGGGCCAGATC	0.542																																						uc003nqh.2		NA																	0				ovary(3)	3						c.(691-693)CCG>CTG		guanine nucleotide binding protein-like 1							128.0	134.0	132.0					6																	30521243		1510	2709	4219	SO:0001583	missense	2794				response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity	g.chr6:30521243G>A		CCDS4680.1	6p21.3	2010-02-17			ENSG00000204590	ENSG00000204590			4413	protein-coding gene	gene with protein product		143024				8180467	Standard	NM_005275		Approved	HSR1	uc003nqh.3	P36915	OTTHUMG00000031137	ENST00000376621.3:c.692C>T	6.37:g.30521243G>A	ENSP00000365806:p.Pro231Leu					GNL1_uc011dmi.1_Missense_Mutation_p.P93L|GNL1_uc011dmj.1_Missense_Mutation_p.P229L|GNL1_uc011dmk.1_Intron	p.P231L	NM_005275	NP_005266	P36915	GNL1_HUMAN			6	1720	-			231					B0S838|Q96CT5	Missense_Mutation	SNP	ENST00000376621.3	37	c.692C>T	CCDS4680.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.856227	0.91355	.	.	ENSG00000204590	ENST00000376621;ENST00000426875;ENST00000429126;ENST00000433809	T;T	0.15256	2.44;2.44	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.42698	0.1214	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	0.999;0.989;1.0	P;P;D	0.81914	0.899;0.709;0.995	T	0.52771	-0.8531	10	0.72032	D	0.01	-42.4185	17.481	0.87673	0.0:0.0:1.0:0.0	.	229;93;231	B4DYK6;B4DWZ0;P36915	.;.;GNL1_HUMAN	L	231;53;93;229	ENSP00000365806:P231L;ENSP00000404728:P229L	ENSP00000365806:P231L	P	-	2	0	GNL1	30629222	1.000000	0.71417	0.994000	0.49952	0.981000	0.71138	8.495000	0.90481	2.434000	0.82447	0.655000	0.94253	CCG		0.542	GNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076241.2			30	82	0	0	0	0	30	82				
SPDEF	25803	broad.mit.edu	37	6	34507128	34507128	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:34507128G>A	ENST00000374037.3	-	5	1142	c.728C>T	c.(727-729)tCa>tTa	p.S243L	SPDEF_ENST00000544425.1_Missense_Mutation_p.S227L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	243					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCCGGAGCATGATGAGTCCAC	0.622																																						uc003ojq.1		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(727-729)TCA>TTA		SAM pointed domain containing ets transcription							130.0	122.0	125.0					6																	34507128		2203	4300	6503	SO:0001583	missense	25803				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:34507128G>A	AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.728C>T	6.37:g.34507128G>A	ENSP00000363149:p.Ser243Leu					SPDEF_uc011dsq.1_Missense_Mutation_p.S227L	p.S243L	NM_012391	NP_036523	O95238	SPDEF_HUMAN			5	1143	-			243					B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	c.728C>T	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.334431	0.41297	.	.	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.13420	2.59;2.59	5.24	5.24	0.73138	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.123365	0.56097	D	0.000029	T	0.07503	0.0189	L	0.34521	1.04	0.80722	D	1	B;B	0.15141	0.012;0.006	B;B	0.18561	0.022;0.007	T	0.08680	-1.0710	10	0.59425	D	0.04	.	18.8138	0.92070	0.0:0.0:1.0:0.0	.	227;243	F5H778;O95238	.;SPDEF_HUMAN	L	243;227	ENSP00000363149:S243L;ENSP00000442715:S227L	ENSP00000363149:S243L	S	-	2	0	SPDEF	34615106	1.000000	0.71417	0.282000	0.24776	0.178000	0.23041	7.467000	0.80930	2.445000	0.82738	0.561000	0.74099	TCA		0.622	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1	NM_012391		42	126	0	0	0	0	42	126				
FAM135A	57579	broad.mit.edu	37	6	71190648	71190648	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:71190648C>T	ENST00000418814.2	+	9	1201	c.587C>T	c.(586-588)cCa>cTa	p.P196L	FAM135A_ENST00000505868.1_Missense_Mutation_p.P196L|FAM135A_ENST00000370479.3_Missense_Mutation_p.P153L|FAM135A_ENST00000457062.2_Missense_Mutation_p.P153L|FAM135A_ENST00000505769.1_Missense_Mutation_p.P196L|FAM135A_ENST00000361499.3_Missense_Mutation_p.P196L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	196										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AGAAATGCACCAGCACAAAAC	0.358																																						uc003pfj.2		NA																	0				central_nervous_system(1)	1						c.(586-588)CCA>CTA		hypothetical protein LOC57579 isoform c							112.0	110.0	111.0					6																	71190648		2203	4300	6503	SO:0001583	missense	57579							g.chr6:71190648C>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.587C>T	6.37:g.71190648C>T	ENSP00000410768:p.Pro196Leu					FAM135A_uc003pfi.2_Missense_Mutation_p.P196L|FAM135A_uc003pfh.2_Missense_Mutation_p.P153L|FAM135A_uc003pfk.2_Missense_Mutation_p.P196L|FAM135A_uc003pfl.2_Missense_Mutation_p.P33L|FAM135A_uc003pfm.1_5'Flank	p.P196L	NM_001162529	NP_001156001	Q9P2D6	F135A_HUMAN			7	720	+			196					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.587C>T	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806535	0.90623	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.83092	0.5179	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.993;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.913;0.998;0.999;0.999	T	0.79205	-0.1899	10	0.30854	T	0.27	.	19.5885	0.95498	0.0:1.0:0.0:0.0	.	196;196;196;196;153	Q9P2D6-4;D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;F135A_HUMAN;.;.	L	196;153;196;196;153;196;196	ENSP00000410768:P196L;ENSP00000359510:P153L;ENSP00000423785:P196L;ENSP00000422406:P196L;ENSP00000409201:P153L;ENSP00000354913:P196L;ENSP00000423307:P196L	ENSP00000354913:P196L	P	+	2	0	FAM135A	71247369	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.294000	0.78760	2.647000	0.89833	0.585000	0.79938	CCA		0.358	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		14	37	0	0	0	0	14	37				
HACE1	57531	broad.mit.edu	37	6	105224986	105224986	+	Splice_Site	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:105224986C>G	ENST00000262903.4	-	16	1955		c.e16-1		HACE1_ENST00000517995.1_Intron|HACE1_ENST00000369125.2_Intron	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1						cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AAAATAGAATCTAAATATGTA	0.333																																						uc003pqu.1		NA																	0				ovary(5)|lung(2)	7						c.e16-1		HECT domain and ankyrin repeat containing, E3							70.0	68.0	68.0					6																	105224986		2202	4299	6501	SO:0001630	splice_region_variant	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105224986C>G	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.1679-1G>C	6.37:g.105224986C>G						HACE1_uc010kcy.1_Splice_Site_p.D42_splice|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Intron|HACE1_uc003pqt.1_Splice_Site_p.D213_splice	p.D560_splice	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	16	1956	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)						A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Splice_Site	SNP	ENST00000262903.4	37	c.1679_splice	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509763	0.64522	.	.	ENSG00000085382	ENST00000262903;ENST00000518503	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0595	0.93081	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HACE1	105331679	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.389000	0.79806	2.555000	0.86185	0.655000	0.94253	.		0.333	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	Intron	10	15	0	0	0	0	10	15				
LAMA4	3910	broad.mit.edu	37	6	112438963	112438963	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:112438963C>G	ENST00000230538.7	-	35	5357	c.4960G>C	c.(4960-4962)Gaa>Caa	p.E1654Q	LAMA4_ENST00000389463.4_Missense_Mutation_p.E1647Q|LAMA4_ENST00000424408.2_Missense_Mutation_p.E1647Q|LAMA4_ENST00000522006.1_Missense_Mutation_p.E1647Q	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1654	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TATCCTCCTTCTGTTGAAAAG	0.458																																						uc003pvu.2		NA																	0				ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4960-4962)GAA>CAA		laminin, alpha 4 isoform 1 precursor							156.0	144.0	148.0					6																	112438963		2203	4300	6503	SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112438963C>G		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4960G>C	6.37:g.112438963C>G	ENSP00000230538:p.Glu1654Gln					LAMA4_uc003pvv.2_Missense_Mutation_p.E1647Q|LAMA4_uc003pvt.2_Missense_Mutation_p.E1647Q	p.E1654Q	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	35	5269	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1654			Laminin G-like 5.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.4960G>C	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846833	0.91277	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.6	5.6	0.85130	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.051102	0.85682	D	0.000000	D	0.85111	0.5622	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	D	0.84124	0.0408	10	0.46703	T	0.11	.	19.6091	0.95594	0.0:1.0:0.0:0.0	.	1654;1647	Q16363;Q16363-2	LAMA4_HUMAN;.	Q	1654;1647;1647;1647	ENSP00000230538:E1654Q;ENSP00000429488:E1647Q;ENSP00000374114:E1647Q;ENSP00000416470:E1647Q	ENSP00000230538:E1654Q	E	-	1	0	LAMA4	112545656	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.296000	0.65698	2.650000	0.89964	0.655000	0.94253	GAA		0.458	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		33	94	0	0	0	0	33	94				
SYTL3	94120	broad.mit.edu	37	6	159129394	159129394	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr6:159129394G>A	ENST00000297239.9	+	7	681	c.487G>A	c.(487-489)Gag>Aag	p.E163K	SYTL3_ENST00000360448.3_Missense_Mutation_p.E163K|SYTL3_ENST00000367081.3_Intron			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	163					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TCCTGTCAGCGAGAGCCAGTG	0.517																																						uc003qrp.2		NA																	0					0						c.(487-489)GAG>AAG		synaptotagmin-like 3							114.0	97.0	103.0					6																	159129394		2203	4300	6503	SO:0001583	missense	94120				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding	g.chr6:159129394G>A	AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.487G>A	6.37:g.159129394G>A	ENSP00000297239:p.Glu163Lys					SYTL3_uc011efp.1_Missense_Mutation_p.E163K|SYTL3_uc003qro.2_Missense_Mutation_p.E163K|SYTL3_uc003qrq.2_Missense_Mutation_p.E163K|SYTL3_uc003qrr.2_Missense_Mutation_p.E163K|SYTL3_uc003qrs.2_Missense_Mutation_p.E163K|SYTL3_uc011efq.1_Intron	p.E163K	NM_001009991	NP_001009991	Q4VX76	SYTL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)	7	731	+		Breast(66;0.000776)|Ovarian(120;0.0303)	163					Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	ENST00000297239.9	37	c.487G>A	CCDS56458.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236718	0.39498	.	.	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.20738	2.2;2.05	4.59	3.72	0.42706	.	0.662731	0.14569	N	0.311548	T	0.31979	0.0814	M	0.80028	2.48	0.34757	D	0.732333	D;D	0.89917	0.994;1.0	P;D	0.69654	0.6;0.965	T	0.22730	-1.0208	10	0.59425	D	0.04	.	8.6581	0.34075	0.1072:0.0:0.8928:0.0	.	163;163	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	K	163	ENSP00000353631:E163K;ENSP00000297239:E163K	ENSP00000297239:E163K	E	+	1	0	SYTL3	159049382	0.944000	0.32072	0.173000	0.22940	0.122000	0.20287	3.485000	0.53208	0.933000	0.37291	-0.140000	0.14226	GAG		0.517	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042876.1			18	45	0	0	0	0	18	45				
HECW1	23072	broad.mit.edu	37	7	43483921	43483921	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:43483921G>A	ENST00000395891.2	+	11	1755	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T	HECW1_ENST00000453890.1_Missense_Mutation_p.A384T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	384					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TCGGTCTGAGGCACCAGAGTC	0.577																																						uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1150-1152)GCA>ACA		NEDD4-like ubiquitin-protein ligase 1							51.0	57.0	55.0					7																	43483921		2097	4221	6318	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43483921G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1150G>A	7.37:g.43483921G>A	ENSP00000379228:p.Ala384Thr					HECW1_uc011kbi.1_Missense_Mutation_p.A384T	p.A384T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	1755	+			384					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1150G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	11.81	1.750653	0.31046	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.30981	1.52;1.51	5.4	4.52	0.55395	.	0.790710	0.10935	N	0.617909	T	0.20129	0.0484	N	0.22421	0.69	0.09310	N	1	B;B	0.20671	0.047;0.02	B;B	0.19148	0.024;0.024	T	0.23868	-1.0176	10	0.16896	T	0.51	.	9.2343	0.37457	0.2097:0.0:0.7903:0.0	.	384;384	B4DH42;Q76N89	.;HECW1_HUMAN	T	384	ENSP00000379228:A384T;ENSP00000407774:A384T	ENSP00000265522:A384T	A	+	1	0	HECW1	43450446	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.584000	0.23864	1.397000	0.46682	0.655000	0.94253	GCA		0.577	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		17	29	0	0	0	0	17	29				
ADCY1	107	broad.mit.edu	37	7	45753517	45753517	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:45753517G>A	ENST00000297323.7	+	20	3305	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	1095					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CATGCCTGGCGTCTCAGTCAG	0.652																																						uc003tne.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(3283-3285)GTC>ATC		adenylate cyclase 1	Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						56.0	54.0	55.0					7																	45753517		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45753517G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.3283G>A	7.37:g.45753517G>A	ENSP00000297323:p.Val1095Ile						p.V1095I	NM_021116	NP_066939	Q08828	ADCY1_HUMAN			20	3301	+			1095			Cytoplasmic (Potential).		A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.3283G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	8.954	0.968800	0.18659	.	.	ENSG00000164742	ENST00000297323	T	0.78924	-1.22	5.77	3.69	0.42338	.	0.493114	0.20938	N	0.082968	T	0.51534	0.1680	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.11329	0.006	T	0.28964	-1.0027	10	0.21540	T	0.41	.	2.8111	0.05442	0.0:0.3896:0.2752:0.3352	.	1095	Q08828	ADCY1_HUMAN	I	1095	ENSP00000297323:V1095I	ENSP00000297323:V1095I	V	+	1	0	ADCY1	45720042	0.623000	0.27094	0.003000	0.11579	0.004000	0.04260	1.499000	0.35671	0.729000	0.32403	-0.165000	0.13383	GTC		0.652	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		19	57	0	0	0	0	19	57				
COBL	23242	broad.mit.edu	37	7	51096125	51096125	+	Missense_Mutation	SNP	C	C	T	rs374030012		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:51096125C>T	ENST00000265136.7	-	10	2833	c.2668G>A	c.(2668-2670)Ggt>Agt	p.G890S	COBL_ENST00000395542.2_Missense_Mutation_p.G972S	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	890					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGGCATAACCGTGTGGCCTC	0.562																																					NSCLC(189;2119 2138 12223 30818 34679)	uc003tpr.3		NA																	0				skin(3)|ovary(2)	5						c.(2668-2670)GGT>AGT		cordon-bleu homolog		C	SER/GLY	0,4406		0,0,2203	133.0	110.0	118.0		2668	0.6	0.0	7		118	1,8599	1.2+/-3.3	0,1,4299	no	missense	COBL	NM_015198.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	890/1262	51096125	1,13005	2203	4300	6503	SO:0001583	missense	23242							g.chr7:51096125C>T	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.2668G>A	7.37:g.51096125C>T	ENSP00000265136:p.Gly890Ser					COBL_uc003tps.2_Missense_Mutation_p.G947S|COBL_uc011kcl.1_Missense_Mutation_p.G890S|COBL_uc003tpp.3_Missense_Mutation_p.G676S|COBL_uc003tpq.3_Missense_Mutation_p.G831S|COBL_uc003tpo.3_Missense_Mutation_p.G432S	p.G890S	NM_015198	NP_056013	O75128	COBL_HUMAN			10	2853	-	Glioma(55;0.08)		890					A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	ENST00000265136.7	37	c.2668G>A	CCDS34637.1	.	.	.	.	.	.	.	.	.	.	C	8.820	0.937358	0.18206	0.0	1.16E-4	ENSG00000106078	ENST00000265136;ENST00000445054;ENST00000431948;ENST00000395542	T;T;T;T	0.10573	2.87;2.86;2.86;2.86	4.79	0.547	0.17202	.	1.793710	0.03196	N	0.174087	T	0.08537	0.0212	L	0.29908	0.895	0.09310	N	1	B;P;B;P;P	0.52170	0.341;0.951;0.026;0.789;0.669	B;B;B;B;B	0.41946	0.07;0.371;0.006;0.128;0.053	T	0.33675	-0.9859	10	0.10636	T	0.68	.	7.0881	0.25270	0.0:0.5707:0.0:0.4293	.	890;947;890;972;432	O75128-3;O75128-7;O75128;O75128-2;O75128-6	.;.;COBL_HUMAN;.;.	S	890;782;775;972	ENSP00000265136:G890S;ENSP00000401204:G782S;ENSP00000413498:G775S;ENSP00000378912:G972S	ENSP00000265136:G890S	G	-	1	0	COBL	51063619	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.050000	0.14120	-0.211000	0.10124	0.563000	0.77884	GGT		0.562	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	NM_015198		17	54	0	0	0	0	17	54				
ZNF716	441234	broad.mit.edu	37	7	57529035	57529035	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:57529035C>T	ENST00000420713.1	+	4	980	c.868C>T	c.(868-870)Cat>Tat	p.H290Y		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						CAAGAGAATTCATACTGGAGA	0.408																																						uc011kdi.1		NA																	0				ovary(2)	2						c.(868-870)CAT>TAT		zinc finger protein 716							37.0	37.0	37.0					7																	57529035		692	1591	2283	SO:0001583	missense	441234							g.chr7:57529035C>T	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.868C>T	7.37:g.57529035C>T	ENSP00000394248:p.His290Tyr						p.H290Y	NM_001159279	NP_001152751					4	980	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.868C>T	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687823	0.29962	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	T	0.67523	-0.27	0.109	0.109	0.14578	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83418	0.5250	H	0.95260	3.645	0.27420	N	0.954302	D	0.62365	0.991	D	0.72075	0.976	T	0.71441	-0.4592	9	0.87932	D	0	.	5.9913	0.19465	0.0:0.9994:0.0:6.0E-4	.	278	A6NP11	ZN716_HUMAN	Y	290;278	ENSP00000394248:H290Y	ENSP00000387687:H278Y	H	+	1	0	ZNF716	57532977	0.983000	0.35010	0.027000	0.17364	0.027000	0.11550	2.756000	0.47549	0.181000	0.19994	0.184000	0.17185	CAT		0.408	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		9	17	0	0	0	0	9	17				
HGF	3082	broad.mit.edu	37	7	81374353	81374353	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:81374353G>A	ENST00000222390.5	-	6	935	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	HGF_ENST00000444829.2_Missense_Mutation_p.H237Y|HGF_ENST00000453411.1_Missense_Mutation_p.H232Y|HGF_ENST00000457544.2_Missense_Mutation_p.H232Y	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	237	Kringle 2. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGTGTCTGATGATCCCAGCGC	0.378																																						uc003uhl.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(709-711)CAT>TAT		hepatocyte growth factor isoform 1							95.0	91.0	93.0					7																	81374353		2203	4300	6503	SO:0001583	missense	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81374353G>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.709C>T	7.37:g.81374353G>A	ENSP00000222390:p.His237Tyr					HGF_uc003uhm.2_Missense_Mutation_p.H232Y|HGF_uc003uhn.1_Missense_Mutation_p.H237Y|HGF_uc003uho.1_Missense_Mutation_p.H232Y	p.H237Y	NM_000601	NP_000592	P14210	HGF_HUMAN			6	874	-			237			Kringle 2.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	ENST00000222390.5	37	c.709C>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	G	16.05	3.012225	0.54468	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.63	4.63	0.57726	Kringle (4);Kringle-like fold (1);	0.409517	0.26481	N	0.024127	T	0.48277	0.1491	N	0.20483	0.58	0.80722	D	1	B;B;P;P	0.41498	0.186;0.319;0.708;0.752	B;B;B;B	0.42361	0.239;0.192;0.192;0.385	T	0.43925	-0.9361	10	0.32370	T	0.25	.	11.5301	0.50604	0.0826:0.0:0.9174:0.0	.	232;237;232;237	P14210-5;P14210-2;P14210-3;P14210	.;.;.;HGF_HUMAN	Y	237;232;237;232;237	ENSP00000222390:H237Y;ENSP00000391238:H232Y;ENSP00000389854:H237Y;ENSP00000408270:H232Y	ENSP00000222390:H237Y	H	-	1	0	HGF	81212289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.802000	0.62539	2.562000	0.86427	0.655000	0.94253	CAT		0.378	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	NM_000601		16	39	0	0	0	0	16	39				
PEX1	5189	broad.mit.edu	37	7	92131331	92131331	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:92131331C>G	ENST00000248633.4	-	14	2384	c.2289G>C	c.(2287-2289)aaG>aaC	p.K763N	PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.K441N|PEX1_ENST00000428214.1_Missense_Mutation_p.K706N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	763					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GATCGGTGAACTTGTTTATAT	0.353																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2287-2289)AAG>AAC		peroxin1							225.0	241.0	235.0					7																	92131331		2203	4300	6503	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92131331C>G	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2289G>C	7.37:g.92131331C>G	ENSP00000248633:p.Lys763Asn					PEX1_uc011khr.1_Missense_Mutation_p.K555N|PEX1_uc010ley.2_Missense_Mutation_p.K706N|PEX1_uc011khs.1_Missense_Mutation_p.K441N|PEX1_uc011kht.1_Intron	p.K763N	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		14	2385	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	763					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.2289G>C	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	C	6.210	0.406880	0.11754	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;T	0.94457	-3.42;-3.43;2.24	5.15	-0.142	0.13448	.	0.819422	0.11846	N	0.523837	D	0.84665	0.5522	N	0.16790	0.44	0.09310	N	0.999994	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.70687	-0.4803	10	0.18710	T	0.47	-3.826	2.9196	0.05765	0.1158:0.4745:0.1135:0.2962	.	441;555;763	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	N	441;763;706	ENSP00000410438:K441N;ENSP00000248633:K763N;ENSP00000394413:K706N	ENSP00000248633:K763N	K	-	3	2	PEX1	91969267	0.000000	0.05858	0.011000	0.14972	0.843000	0.47879	-0.822000	0.04448	0.067000	0.16545	-0.291000	0.09656	AAG		0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		58	170	0	0	0	0	58	170				
AP4M1	9179	broad.mit.edu	37	7	99704400	99704400	+	Silent	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:99704400C>G	ENST00000359593.4	+	15	1415	c.1257C>G	c.(1255-1257)ctC>ctG	p.L419L	AP4M1_ENST00000422582.1_Silent_p.L291L|AP4M1_ENST00000429084.1_Silent_p.L426L|AP4M1_ENST00000421755.1_Silent_p.L419L	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	419	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTCTGGCCTCCAGGTCCGAT	0.652																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.3		NA																	0					0						c.(1255-1257)CTC>CTG		adaptor-related protein complex 4, mu 1 subunit							63.0	59.0	60.0					7																	99704400		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99704400C>G	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.1257C>G	7.37:g.99704400C>G						AP4M1_uc010lgl.1_Silent_p.L394L|AP4M1_uc003utc.3_Silent_p.L426L|AP4M1_uc010lgm.2_Silent_p.L291L|AP4M1_uc003utd.2_Silent_p.L419L|AP4M1_uc011kjh.1_Silent_p.L371L|AP4M1_uc003ute.3_Silent_p.L194L|AP4M1_uc003utf.3_Silent_p.L291L	p.L419L	NM_004722	NP_004713	O00189	AP4M1_HUMAN			15	1465	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		419			MHD.		D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.1257C>G	CCDS5685.1																																																																																				0.652	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		9	55	0	0	0	0	9	55				
RELN	5649	broad.mit.edu	37	7	103294652	103294652	+	Splice_Site	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:103294652C>G	ENST00000428762.1	-	13	1601	c.1442G>C	c.(1441-1443)gGa>gCa	p.G481A	RELN_ENST00000424685.2_Splice_Site_p.G481A|RELN_ENST00000343529.5_Splice_Site_p.G481A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	481					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)			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)		ACAAATTCCTCCTGCACAAAA	0.318																																					NSCLC(146;835 1944 15585 22231 52158)	uc003vca.2		NA																	0				ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19						c.(1441-1443)GGA>GCA		reelin isoform a							104.0	97.0	99.0					7																	103294652		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103294652C>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.1442-1G>C	7.37:g.103294652C>G						RELN_uc010liz.2_Missense_Mutation_p.G481A	p.G481A	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	13	1602	-			481					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.1442G>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359506	0.82353	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28255	1.62;1.62;1.62	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.49047	0.1534	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.987	T	0.42032	-0.9475	10	0.54805	T	0.06	.	19.7589	0.96306	0.0:1.0:0.0:0.0	.	481;481	P78509-2;P78509	.;RELN_HUMAN	A	481	ENSP00000392423:G481A;ENSP00000345694:G481A;ENSP00000388446:G481A	ENSP00000345694:G481A	G	-	2	0	RELN	103081888	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.645000	0.74343	2.654000	0.90174	0.585000	0.79938	GGA		0.318	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Missense_Mutation	11	34	0	0	0	0	11	34				
TMEM168	64418	broad.mit.edu	37	7	112412901	112412901	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:112412901C>G	ENST00000312814.6	-	4	2041	c.1481G>C	c.(1480-1482)aGa>aCa	p.R494T	TMEM168_ENST00000454074.1_Missense_Mutation_p.R494T|TMEM168_ENST00000480969.1_5'Flank	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	494						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CGTATCATGTCTGGGTCCATC	0.443																																						uc003vgn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1480-1482)AGA>ACA		transmembrane protein 168							123.0	102.0	109.0					7																	112412901		2203	4300	6503	SO:0001583	missense	64418					integral to membrane|transport vesicle		g.chr7:112412901C>G		CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.1481G>C	7.37:g.112412901C>G	ENSP00000323068:p.Arg494Thr					TMEM168_uc010lju.2_Missense_Mutation_p.R494T|TMEM168_uc011kmr.1_Missense_Mutation_p.R110T	p.R494T	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN			4	1873	-			494					A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	ENST00000312814.6	37	c.1481G>C	CCDS5757.1	.	.	.	.	.	.	.	.	.	.	C	34	5.400224	0.96030	.	.	ENSG00000146802	ENST00000312814;ENST00000454074;ENST00000447395;ENST00000449743	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.78168	0.4241	L	0.58101	1.795	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.78006	-0.2373	9	0.72032	D	0.01	-23.7436	20.3206	0.98668	0.0:1.0:0.0:0.0	.	494	Q9H0V1	TM168_HUMAN	T	494;494;110;110	.	ENSP00000323068:R494T	R	-	2	0	TMEM168	112200137	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.809000	0.96659	0.655000	0.94253	AGA		0.443	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338696.4	NM_022484		21	51	0	0	0	0	21	51				
FEZF1	389549	broad.mit.edu	37	7	121944204	121944205	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:121944204_121944205CC>TT	ENST00000442488.2	-	1	354_355	c.287_288GG>AA	c.(286-288)cGG>cAA	p.R96Q	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.R96Q|FEZF1_ENST00000331178.4_Missense_Mutation_p.R96Q|FEZF1-AS1_ENST00000437317.1_RNA|FEZF1-AS1_ENST00000424404.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	96					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GACTGGCCTTCCGCGGCTCGGA	0.683																																						uc003vkd.2		NA																	0				ovary(2)|breast(1)	3						c.(286-288)CGG>CAA		FEZ family zinc finger 1 isoform 1																																				SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121944204_121944205CC>TT	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.287_288delinsTT	7.37:g.121944204_121944205delinsTT	ENSP00000411145:p.Arg96Gln					FEZF1_uc003vkc.2_Missense_Mutation_p.R96Q|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.R96Q	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	361_362	-			96					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	DNP	ENST00000442488.2	37	c.287_288GG>AA	CCDS34741.2																																																																																				0.683	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		6	13	0	0	0	0	6	13				
FLNC	2318	broad.mit.edu	37	7	128483349	128483349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:128483349G>A	ENST00000325888.8	+	17	2878	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	FLNC_ENST00000346177.6_Missense_Mutation_p.E873K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	873					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTCAAGGCCGAGGGCCCTGG	0.642																																						uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(2617-2619)GAG>AAG		gamma filamin isoform a							34.0	41.0	38.0					7																	128483349		2067	4222	6289	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128483349G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.2617G>A	7.37:g.128483349G>A	ENSP00000327145:p.Glu873Lys					FLNC_uc003voa.3_Missense_Mutation_p.E873K	p.E873K	NM_001458	NP_001449	Q14315	FLNC_HUMAN			17	2826	+			873			Filamin 7.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.2617G>A	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	35	5.512855	0.96402	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.84730	-1.89;-1.89	5.5	5.5	0.81552	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	L	0.47716	1.5	0.80722	D	1	D;P	0.89917	1.0;0.838	D;B	0.73380	0.98;0.396	D	0.90761	0.4665	10	0.66056	D	0.02	.	19.3978	0.94614	0.0:0.0:1.0:0.0	.	873;873	Q14315-2;Q14315	.;FLNC_HUMAN	K	873	ENSP00000327145:E873K;ENSP00000344002:E873K	ENSP00000327145:E873K	E	+	1	0	FLNC	128270585	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.906000	0.87423	2.583000	0.87209	0.561000	0.74099	GAG		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			4	9	0	0	0	0	4	9				
KLF14	136259	broad.mit.edu	37	7	130417929	130417929	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:130417929G>A	ENST00000310992.4	-	1	959	c.932C>T	c.(931-933)tCc>tTc	p.S311F		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCCGGGACCGGAGCCGGAGGC	0.627																																						uc003vqk.1		NA																	0					0						c.(931-933)TCC>TTC		Kruppel-like factor 14							26.0	30.0	28.0					7																	130417929		2203	4299	6502	SO:0001583	missense	136259				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:130417929G>A	AF490374	CCDS5825.1	7q32.3	2014-05-06			ENSG00000174595	ENSG00000266265		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	23025	protein-coding gene	gene with protein product		609393				17480121	Standard	NM_138693		Approved	BTEB5	uc003vqk.2	Q8TD94	OTTHUMG00000188298	ENST00000310992.4:c.932C>T	7.37:g.130417929G>A	ENSP00000310878:p.Ser311Phe						p.S311F	NM_138693	NP_619638	Q8TD94	KLF14_HUMAN			1	932	-	Melanoma(18;0.0435)		311					Q19A42|Q19A43	Missense_Mutation	SNP	ENST00000310992.4	37	c.932C>T	CCDS5825.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528132	0.27299	.	.	ENSG00000174595	ENST00000310992	T	0.09630	2.96	4.41	2.54	0.30619	.	0.592925	0.12865	U	0.432824	T	0.11153	0.0272	L	0.36672	1.1	0.09310	N	1	D	0.59357	0.985	P	0.45639	0.488	T	0.16660	-1.0395	10	0.72032	D	0.01	.	8.397	0.32564	0.0:0.318:0.5183:0.1636	.	311	Q8TD94	KLF14_HUMAN	F	311	ENSP00000310878:S311F	ENSP00000310878:S311F	S	-	2	0	KLF14	130068469	0.178000	0.23122	0.006000	0.13384	0.203000	0.24098	1.580000	0.36547	0.533000	0.28675	0.205000	0.17691	TCC		0.627	KLF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338013.1	NM_138693		3	14	0	0	0	0	3	14				
EPHA1	2041	broad.mit.edu	37	7	143090949	143090949	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:143090949C>G	ENST00000275815.3	-	16	2597	c.2511G>C	c.(2509-2511)aaG>aaC	p.K837N	EPHA1_ENST00000458129.1_5'Flank	NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	837	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCTCAATGCTCTTCATAACCT	0.577																																						uc003wcz.2		NA																	0				ovary(3)|lung(1)|breast(1)	5						c.(2509-2511)AAG>AAC		ephrin receptor EphA1 precursor							68.0	76.0	73.0					7																	143090949		2203	4300	6503	SO:0001583	missense	2041					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:143090949C>G	M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.2511G>C	7.37:g.143090949C>G	ENSP00000275815:p.Lys837Asn						p.K837N	NM_005232	NP_005223	P21709	EPHA1_HUMAN			16	2598	-	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)	837			Protein kinase.|Cytoplasmic (Potential).		A1L3V3|B5A966|B5A967|Q15405	Missense_Mutation	SNP	ENST00000275815.3	37	c.2511G>C	CCDS5884.1	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474479	0.43942	.	.	ENSG00000146904	ENST00000275815	D	0.82984	-1.67	5.16	2.37	0.29283	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.098035	0.44285	D	0.000476	T	0.67487	0.2898	N	0.17564	0.495	0.50467	D	0.999871	P	0.48694	0.914	B	0.43194	0.411	T	0.59762	-0.7393	10	0.25106	T	0.35	.	6.821	0.23857	0.0:0.4839:0.0:0.5161	.	837	P21709	EPHA1_HUMAN	N	837	ENSP00000275815:K837N	ENSP00000275815:K837N	K	-	3	2	EPHA1	142801071	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.262000	0.32992	0.337000	0.23665	0.655000	0.94253	AAG		0.577	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			23	43	0	0	0	0	23	43				
SNTG1	54212	broad.mit.edu	37	8	51621528	51621528	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:51621528C>T	ENST00000522124.1	+	17	1935	c.1274C>T	c.(1273-1275)gCt>gTt	p.A425V	SNTG1_ENST00000276467.5_Missense_Mutation_p.A425V|SNTG1_ENST00000518864.1_Missense_Mutation_p.A425V|SNTG1_ENST00000517473.1_Missense_Mutation_p.A425V	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	425					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				TGCTTTGATGCTGCAACAAAG	0.378																																						uc010lxy.1		NA																	0				ovary(5)	5						c.(1273-1275)GCT>GTT		syntrophin, gamma 1							160.0	137.0	145.0					8																	51621528		2203	4300	6503	SO:0001583	missense	54212				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	g.chr8:51621528C>T	AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.1274C>T	8.37:g.51621528C>T	ENSP00000429842:p.Ala425Val					SNTG1_uc003xqs.1_Missense_Mutation_p.A425V|SNTG1_uc010lxz.1_Missense_Mutation_p.A425V|SNTG1_uc011ldl.1_RNA	p.A425V	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN			18	1645	+		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)	425					Q2M3Q0|Q9NY98	Missense_Mutation	SNP	ENST00000522124.1	37	c.1274C>T	CCDS6147.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016304	0.75161	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	L	0.50333	1.59	0.80722	D	1	P;D	0.69078	0.745;0.997	P;D	0.70716	0.545;0.97	T	0.82481	-0.0436	10	0.33940	T	0.23	-21.4749	18.8127	0.92064	0.0:1.0:0.0:0.0	.	425;425	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	V	425	ENSP00000429276:A425V;ENSP00000429842:A425V;ENSP00000431123:A425V;ENSP00000276467:A425V	ENSP00000276467:A425V	A	+	2	0	SNTG1	51784081	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	5.253000	0.65452	2.684000	0.91462	0.650000	0.86243	GCT		0.378	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377964.1			18	42	0	0	0	0	18	42				
TRIM55	84675	broad.mit.edu	37	8	67066571	67066571	+	Splice_Site	SNP	T	T	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:67066571T>G	ENST00000315962.4	+	9	1897		c.e9+2		TRIM55_ENST00000276573.7_Splice_Site|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACTTCTCAGGTTAGTGATGAT	0.542																																						uc003xvv.2		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.e9+2		tripartite motif-containing 55 isoform 1							86.0	79.0	82.0					8																	67066571		2203	4300	6503	SO:0001630	splice_region_variant	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67066571T>G	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1524+2T>G	8.37:g.67066571T>G						TRIM55_uc003xvu.2_Splice_Site_p.Q508_splice|TRIM55_uc003xvw.2_Intron|TRIM55_uc003xvx.2_Intron	p.Q508_splice	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		9	1750	+		Lung NSC(129;0.138)|all_lung(136;0.221)						B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Splice_Site	SNP	ENST00000315962.4	37	c.1524_splice	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.141122	0.77775	.	.	ENSG00000147573	ENST00000315962;ENST00000276573	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3603	0.83259	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM55	67229125	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.494000	0.66905	2.260000	0.74910	0.529000	0.55759	.		0.542	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	Intron	10	27	0	0	0	0	10	27				
NCOA2	10499	broad.mit.edu	37	8	71039096	71039096	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:71039096G>A	ENST00000452400.2	-	19	4049	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NCOA2_ENST00000267974.4_Missense_Mutation_p.R378W	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1290					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGGGAATCCGAGGGTTGCTC	0.502			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																	uc003xyn.1		NA		Dom	yes		8	8q13.1	10499	T	nuclear receptor coactivator 2 (TIF2)			L	RUNXBP2		AML	PAX3/NCOA2(4)	0				lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16						c.(3868-3870)CGG>TGG		nuclear receptor coactivator 2							141.0	134.0	136.0					8																	71039096		1967	4151	6118	SO:0001583	missense	10499				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity	g.chr8:71039096G>A	X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.3868C>T	8.37:g.71039096G>A	ENSP00000399968:p.Arg1290Trp					NCOA2_uc011lfb.1_Missense_Mutation_p.R378W	p.R1290W	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)		19	4030	-	Breast(64;0.201)		1290					Q14CD2	Missense_Mutation	SNP	ENST00000452400.2	37	c.3868C>T	CCDS47872.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.847121	0.71603	.	.	ENSG00000140396	ENST00000452400;ENST00000267974	T;T	0.26373	1.74;1.74	5.97	5.03	0.67393	Domain of unknown function DUF1518 (1);	0.049981	0.85682	D	0.000000	T	0.50633	0.1627	M	0.66939	2.045	0.51767	D	0.999939	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.49771	-0.8904	10	0.72032	D	0.01	.	17.1807	0.86854	0.0:0.0:0.849:0.151	.	378;1290	F8WAJ2;Q15596	.;NCOA2_HUMAN	W	1290;378	ENSP00000399968:R1290W;ENSP00000267974:R378W	ENSP00000267974:R378W	R	-	1	2	NCOA2	71201650	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.445000	0.44899	2.836000	0.97738	0.655000	0.94253	CGG		0.502	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379696.1			4	23	0	0	0	0	4	23				
CNBD1	168975	broad.mit.edu	37	8	88363940	88363940	+	Missense_Mutation	SNP	C	C	G	rs200357055	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:88363940C>G	ENST00000518476.1	+	9	1121	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	357										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						AATATAATTTCTTTTGTGGGT	0.274																																						uc003ydy.2		NA																	0				ovary(3)	3						c.(1069-1071)TCT>TGT		cyclic nucleotide binding domain containing 1							73.0	73.0	73.0					8																	88363940		1792	4039	5831	SO:0001583	missense	168975							g.chr8:88363940C>G	AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1070C>G	8.37:g.88363940C>G	ENSP00000430073:p.Ser357Cys						p.S357C	NM_173538	NP_775809	Q8NA66	CNBD1_HUMAN			9	1118	+			357			cNMP.			Missense_Mutation	SNP	ENST00000518476.1	37	c.1070C>G	CCDS55259.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.86|10.86	1.468933|1.468933	0.26335|0.26335	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000523299|ENST00000518476	.|D	.|0.93076	.|-3.16	5.36|5.36	4.48|4.48	0.54585|0.54585	.|Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	.|0.143965	.|0.32015	.|N	.|0.006705	D|D	0.95111|0.95111	0.8416|0.8416	M|M	0.62723|0.62723	1.935|1.935	0.25284|0.25284	N|N	0.989416|0.989416	.|D	.|0.76494	.|0.999	.|D	.|0.70487	.|0.969	D|D	0.89334|0.89334	0.3649|0.3649	5|10	.|0.66056	.|D	.|0.02	-18.6664|-18.6664	9.9917|9.9917	0.41874|0.41874	0.0:0.9066:0.0:0.0934|0.0:0.9066:0.0:0.0934	.|.	.|357	.|Q8NA66	.|CNBD1_HUMAN	V|C	49|357	.|ENSP00000430073:S357C	.|ENSP00000430073:S357C	L|S	+|+	1|2	0|0	CNBD1|CNBD1	88433056|88433056	1.000000|1.000000	0.71417|0.71417	0.693000|0.693000	0.30195|0.30195	0.011000|0.011000	0.07611|0.07611	3.706000|3.706000	0.54830|0.54830	1.250000|1.250000	0.43966|0.43966	-0.142000|-0.142000	0.14014|0.14014	CTT|TCT		0.274	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375113.2	NM_173538		3	7	0	0	0	0	3	7				
CSMD3	114788	broad.mit.edu	37	8	113569178	113569178	+	Missense_Mutation	SNP	C	C	T	rs369452274		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:113569178C>T	ENST00000297405.5	-	25	4292	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	CSMD3_ENST00000352409.3_Missense_Mutation_p.E1350K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1310K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1246K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1350						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTGAGAGTTCAAAACCTGGG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4048-4050)GAA>AAA		CUB and Sushi multiple domains 3 isoform 1		C	LYS/GLU,LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	56.0	53.0	54.0		3736,4048,3928	5.0	1.0	8		54	0,8598		0,0,4299	no	missense,missense,missense	CSMD3	NM_052900.2,NM_198123.1,NM_198124.1	56,56,56	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1246/3539,1350/3708,1310/3668	113569178	1,13003	2203	4299	6502	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113569178C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4048G>A	8.37:g.113569178C>T	ENSP00000297405:p.Glu1350Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.E622K|CSMD3_uc003ynt.2_Missense_Mutation_p.E1310K|CSMD3_uc011lhx.1_Missense_Mutation_p.E1246K	p.E1350K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			25	4207	-			1350			Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4048G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171452	0.78452	2.27E-4	0.0	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24908	2.13;2.12;2.16;1.83;2.14	4.97	4.97	0.65823	CUB (1);	0.000000	0.64402	D	0.000001	T	0.45316	0.1336	M	0.84511	2.7	0.36749	D	0.882625	D;P;P	0.54397	0.966;0.942;0.878	P;P;P	0.53593	0.73;0.542;0.614	T	0.54470	-0.8289	10	0.08837	T	0.75	.	18.4062	0.90536	0.0:1.0:0.0:0.0	.	1246;1350;1310	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1310;1350;690;1246;1350	ENSP00000345799:E1310K;ENSP00000297405:E1350K;ENSP00000341558:E690K;ENSP00000412263:E1246K;ENSP00000343124:E1350K	ENSP00000297405:E1350K	E	-	1	0	CSMD3	113638354	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.786000	0.62425	2.579000	0.87056	0.655000	0.94253	GAA		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	22	0	0	0	0	6	22				
COL14A1	7373	broad.mit.edu	37	8	121354670	121354670	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:121354670G>A	ENST00000297848.3	+	44	5143	c.4873G>A	c.(4873-4875)Gaa>Aaa	p.E1625K	COL14A1_ENST00000309791.4_Missense_Mutation_p.E1625K|COL14A1_ENST00000247781.3_Missense_Mutation_p.E1530K	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAAGTATGCGAACAGCTCAT	0.478																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(4873-4875)GAA>AAA		collagen, type XIV, alpha 1 precursor							188.0	156.0	167.0					8																	121354670		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121354670G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4873G>A	8.37:g.121354670G>A	ENSP00000297848:p.Glu1625Lys					COL14A1_uc003yoz.2_Missense_Mutation_p.E590K	p.E1625K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		44	5138	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1625						Missense_Mutation	SNP	ENST00000297848.3	37	c.4873G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	31	5.081560	0.94050	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	D;D;D	0.87650	-2.18;-2.21;-2.28	5.31	5.31	0.75309	.	0.099263	0.64402	D	0.000002	D	0.91181	0.7222	M	0.68952	2.095	0.80722	D	1	D	0.57257	0.979	P	0.59424	0.857	D	0.89615	0.3844	10	0.30854	T	0.27	.	16.822	0.85748	0.0:0.0:1.0:0.0	.	1625	Q05707	COEA1_HUMAN	K	1625;1625;1530	ENSP00000311809:E1625K;ENSP00000297848:E1625K;ENSP00000247781:E1530K	ENSP00000247781:E1530K	E	+	1	0	COL14A1	121423851	1.000000	0.71417	0.999000	0.59377	0.897000	0.52465	7.914000	0.87478	2.493000	0.84123	0.555000	0.69702	GAA		0.478	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		14	33	0	0	0	0	14	33				
GSDMC	56169	broad.mit.edu	37	8	130774940	130774941	+	Missense_Mutation	DNP	TT	TT	GC			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:130774940_130774941TT>GC	ENST00000276708.4	-	5	1488_1489	c.607_608AA>GC	c.(607-609)AAg>GCg	p.K203A		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	203						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AGTCAGCGCCTTCTTCTTCACT	0.47																																						uc003ysr.2		NA																	0				ovary(2)|skin(1)	3						c.(607-609)AAG>GCG		melanoma-derived leucine zipper, extra-nuclear																																				SO:0001583	missense	56169					mitochondrion		g.chr8:130774940_130774941TT>GC	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.607_608delinsGC	8.37:g.130774940_130774941delinsGC	ENSP00000276708:p.Lys203Ala						p.K203A	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			5	1489_1490	-			203					Q5XKF3|Q6P494	Missense_Mutation	DNP	ENST00000276708.4	37	c.607_608AA>GC	CCDS6360.1																																																																																				0.470	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1			50	113	0	0	0	0	50	113				
ARC	23237	broad.mit.edu	37	8	143695106	143695106	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:143695106G>A	ENST00000356613.2	-	1	1727	c.527C>T	c.(526-528)cCg>cTg	p.P176L	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GGCTGGGGGCGGGGTGATGGC	0.746																																						uc003ywn.1		NA																	0				breast(1)	1						c.(526-528)CCG>CTG		activity-regulated cytoskeleton-associated							6.0	9.0	8.0					8																	143695106		1976	3927	5903	SO:0001583	missense	23237				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane		g.chr8:143695106G>A	AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.527C>T	8.37:g.143695106G>A	ENSP00000349022:p.Pro176Leu						p.P176L	NM_015193	NP_056008	Q7LC44	ARC_HUMAN			1	728	-	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)	176					B4DFL0|O60937	Missense_Mutation	SNP	ENST00000356613.2	37	c.527C>T	CCDS34950.1	.	.	.	.	.	.	.	.	.	.	g	15.18	2.756840	0.49362	.	.	ENSG00000198576	ENST00000356613	T	0.51817	0.69	4.55	4.55	0.56014	.	0.259573	0.25961	U	0.027181	T	0.33000	0.0848	N	0.24115	0.695	0.41217	D	0.986481	B	0.14805	0.011	B	0.04013	0.001	T	0.20505	-1.0273	10	0.66056	D	0.02	-9.0977	10.042	0.42164	0.0941:0.0:0.9059:0.0	.	176	Q7LC44	ARC_HUMAN	L	176	ENSP00000349022:P176L	ENSP00000349022:P176L	P	-	2	0	ARC	143692108	1.000000	0.71417	0.744000	0.31058	0.705000	0.40729	6.207000	0.72159	2.071000	0.62044	0.457000	0.33378	CCG		0.746	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259274.2			5	4	0	0	0	0	5	4				
SHARPIN	81858	broad.mit.edu	37	8	145154328	145154328	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:145154328G>A	ENST00000398712.2	-	6	1210	c.774C>T	c.(772-774)ttC>ttT	p.F258F	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	258	Interaction with SHANK1. {ECO:0000250}.|Ubiquitin-like.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAGCTCTGAGAACACCTGTG	0.652																																						uc003zba.2		NA																	0				ovary(1)	1						c.(772-774)TTC>TTT		shank-interacting protein-like 1							44.0	52.0	49.0					8																	145154328		2129	4233	6362	SO:0001819	synonymous_variant	81858				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding	g.chr8:145154328G>A	AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.774C>T	8.37:g.145154328G>A						SHARPIN_uc003zbb.2_RNA	p.F258F	NM_030974	NP_112236	Q9H0F6	SHRPN_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1258	-	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		258			Ubiquitin-like.|Interaction with SHANK1 (By similarity).		A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	ENST00000398712.2	37	c.774C>T	CCDS43777.1																																																																																				0.652	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382901.1	NM_030974		9	27	0	0	0	0	9	27				
KIFC2	90990	broad.mit.edu	37	8	145692461	145692461	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:145692461G>A	ENST00000301332.2	+	3	675	c.298G>A	c.(298-300)Gag>Aag	p.E100K	KIFC2_ENST00000301331.5_5'Flank|CYHR1_ENST00000403000.2_5'Flank|CYHR1_ENST00000438911.2_5'Flank|CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000306145.5_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	100					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGGGGCGGAAGAGAGCTGCGG	0.746											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zcz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(298-300)GAG>AAG		kinesin family member C2							7.0	9.0	8.0					8																	145692461		2073	4145	6218	SO:0001583	missense	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145692461G>A	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.298G>A	8.37:g.145692461G>A	ENSP00000301332:p.Glu100Lys		OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1696	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	p.E100K	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		3	363	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		100					E9PHB2|Q96NN6	Missense_Mutation	SNP	ENST00000301332.2	37	c.298G>A	CCDS6427.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.632305	0.87660	.	.	ENSG00000167702	ENST00000301332	T	0.56941	0.43	4.44	3.56	0.40772	.	0.000000	0.34750	N	0.003713	T	0.36936	0.0985	L	0.32530	0.975	0.80722	D	1	P	0.43750	0.816	B	0.39706	0.307	T	0.18461	-1.0336	10	0.49607	T	0.09	-22.9191	5.7054	0.17905	0.0994:0.0:0.7048:0.1959	.	100	Q96AC6	KIFC2_HUMAN	K	100	ENSP00000301332:E100K	ENSP00000301332:E100K	E	+	1	0	KIFC2	145663269	0.960000	0.32886	1.000000	0.80357	0.959000	0.62525	1.125000	0.31332	1.225000	0.43566	-0.261000	0.10672	GAG		0.746	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		5	7	0	0	0	0	5	7				
CCIN	881	broad.mit.edu	37	9	36169709	36169709	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:36169709C>T	ENST00000335119.2	+	1	321	c.210C>T	c.(208-210)atC>atT	p.I70I		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	70	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGCTTTTCATCACCATTGACA	0.532																																						uc003zzb.3		NA																	0				ovary(1)|skin(1)	2						c.(208-210)ATC>ATT		calicin							94.0	88.0	90.0					9																	36169709		2203	4300	6503	SO:0001819	synonymous_variant	881				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:36169709C>T	Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.210C>T	9.37:g.36169709C>T							p.I70I	NM_005893	NP_005884	Q13939	CALI_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	321	+			70			BTB.		Q9BXG7	Silent	SNP	ENST00000335119.2	37	c.210C>T	CCDS6599.1																																																																																				0.532	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052418.1	NM_005893		8	25	0	0	0	0	8	25				
VPS13A	23230	broad.mit.edu	37	9	79936594	79936594	+	Missense_Mutation	SNP	G	G	A	rs145524733		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:79936594G>A	ENST00000360280.3	+	44	6022	c.5762G>A	c.(5761-5763)cGa>cAa	p.R1921Q	VPS13A_ENST00000357409.5_Missense_Mutation_p.R1921Q|VPS13A_ENST00000376636.3_Missense_Mutation_p.R1882Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.R1921Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1921					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.R1921Q(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GATTATATCCGAACCAAGGAC	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		16128	0.0		0.0	False		,,,				2504	0.001					uc004akr.2		NA																	2	Substitution - Missense(2)		large_intestine(2)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(5761-5763)CGA>CAA		vacuolar protein sorting 13A isoform A		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	85.0	82.0	83.0		5645,5762,5762,5762	1.7	0.1	9	dbSNP_134	83	0,8598		0,0,4299	no	missense,missense,missense,missense	VPS13A	NM_001018037.1,NM_001018038.2,NM_015186.3,NM_033305.2	43,43,43,43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	1882/3136,1921/3070,1921/3096,1921/3175	79936594	1,13003	2203	4299	6502	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79936594G>A	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.5762G>A	9.37:g.79936594G>A	ENSP00000353422:p.Arg1921Gln					VPS13A_uc004akp.3_Missense_Mutation_p.R1921Q|VPS13A_uc004akq.3_Missense_Mutation_p.R1921Q|VPS13A_uc004aks.2_Missense_Mutation_p.R1882Q|VPS13A_uc004akt.2_Missense_Mutation_p.R261Q	p.R1921Q	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			44	6022	+			1921					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.5762G>A	CCDS6655.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.906|8.906	0.957552|0.957552	0.18507|0.18507	2.27E-4|2.27E-4	0.0|0.0	ENSG00000197969|ENSG00000197969	ENST00000419472|ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.|T;T;T;T	.|0.47177	.|1.04;0.85;0.93;1.02	5.8|5.8	1.72|1.72	0.24424|0.24424	.|.	.|0.301547	.|0.31734	.|N	.|0.007142	T|T	0.28234|0.28234	0.0697|0.0697	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.32653	.|0.198;0.014;0.125;0.379;0.194	.|B;B;B;B;B	.|0.20577	.|0.022;0.01;0.01;0.03;0.03	T|T	0.09862|0.09862	-1.0655|-1.0655	5|10	.|0.24483	.|T	.|0.36	.|.	5.2856|5.2856	0.15700|0.15700	0.1945:0.0:0.5611:0.2444|0.1945:0.0:0.5611:0.2444	.|.	.|173;1882;1921;1921;1921	.|B1ALW4;Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.|.;.;VP13A_HUMAN;.;.	K|Q	174|1921;1882;1921;1921	.|ENSP00000365821:R1921Q;ENSP00000365823:R1882Q;ENSP00000353422:R1921Q;ENSP00000349985:R1921Q	.|ENSP00000349985:R1921Q	E|R	+|+	1|2	0|0	VPS13A|VPS13A	79126414|79126414	0.986000|0.986000	0.35501|0.35501	0.145000|0.145000	0.22337|0.22337	0.907000|0.907000	0.53573|0.53573	2.198000|2.198000	0.42705|0.42705	0.321000|0.321000	0.23259|0.23259	0.467000|0.467000	0.42956|0.42956	GAA|CGA		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		13	39	0	0	0	0	13	39				
SLC28A3	64078	broad.mit.edu	37	9	86912933	86912933	+	Splice_Site	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:86912933A>C	ENST00000376238.4	-	7	720	c.671T>G	c.(670-672)gTt>gGt	p.V224G	SLC28A3_ENST00000537648.1_Splice_Site_p.V155G	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	224					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TCTCCAGTAAACCTATACAGA	0.418																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(670-672)GTT>GGT		concentrative Na+-nucleoside cotransporter							89.0	94.0	93.0					9																	86912933		2203	4300	6503	SO:0001630	splice_region_variant	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86912933A>C	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.670-1T>G	9.37:g.86912933A>C						SLC28A3_uc011lsy.1_Missense_Mutation_p.V155G|SLC28A3_uc004anu.1_Missense_Mutation_p.V224G|SLC28A3_uc010mqb.2_Missense_Mutation_p.V155G	p.V224G	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			7	796	-			224			Helical; (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Missense_Mutation	SNP	ENST00000376238.4	37	c.671T>G	CCDS6670.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621436	0.87460	.	.	ENSG00000197506	ENST00000376238;ENST00000537648	T;T	0.15952	2.38;2.38	5.69	5.69	0.88448	Na dependent nucleoside transporter (1);	0.145674	0.48286	D	0.000189	T	0.53530	0.1802	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.66763	-0.5841	10	0.87932	D	0	-27.7417	15.6055	0.76668	1.0:0.0:0.0:0.0	.	155;224	B4E2S8;Q9HAS3	.;S28A3_HUMAN	G	224;155	ENSP00000365413:V224G;ENSP00000446438:V155G	ENSP00000365413:V224G	V	-	2	0	SLC28A3	86102753	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.853000	0.92222	2.170000	0.68504	0.379000	0.24179	GTT		0.418	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127	Missense_Mutation	8	64	0	0	0	0	8	64				
LCN2	3934	broad.mit.edu	37	9	130914289	130914289	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr9:130914289A>C	ENST00000373017.1	+	5	697	c.460A>C	c.(460-462)Aag>Cag	p.K154Q	LCN2_ENST00000470902.1_3'UTR|LCN2_ENST00000540948.1_Missense_Mutation_p.K154Q|LCN2_ENST00000277480.2_Missense_Mutation_p.K154Q|LCN2_ENST00000372998.1_Missense_Mutation_p.K156Q|LCN2_ENST00000373013.2_Missense_Mutation_p.K156Q			P80188	NGAL_HUMAN	lipocalin 2	154					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|small molecule binding (GO:0036094)|transporter activity (GO:0005215)			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						GGAGTACTTCAAGATCACCCT	0.547																																						uc004bto.1		NA																	0					0						c.(460-462)AAG>CAG		lipocalin 2 precursor							163.0	146.0	152.0					9																	130914289		2203	4300	6503	SO:0001583	missense	3934				apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity	g.chr9:130914289A>C		CCDS6892.1	9q34	2011-10-24	2007-12-18		ENSG00000148346	ENSG00000148346		"""Lipocalins"""	6526	protein-coding gene	gene with protein product	"""oncogene 24p3"", ""neutrophil gelatinase-associated lipocalin"", ""siderocalin"""	600181	"""lipocalin 2 (oncogene 24p3)"""			7683678	Standard	NM_005564		Approved	NGAL, 24p3	uc004bto.1	P80188	OTTHUMG00000020734	ENST00000373017.1:c.460A>C	9.37:g.130914289A>C	ENSP00000362108:p.Lys154Gln					LCN2_uc011map.1_Missense_Mutation_p.K154Q	p.K154Q	NM_005564	NP_005555	P80188	NGAL_HUMAN			4	533	+			154				Catecholate-type ferric siderophore.	A6NII8|B4DWV4|B7ZAA2|P30150|Q5SYV9|Q5SYW0|Q6FGL5|Q92683	Missense_Mutation	SNP	ENST00000373017.1	37	c.460A>C	CCDS6892.1	.	.	.	.	.	.	.	.	.	.	A	9.806	1.181755	0.21787	.	.	ENSG00000148346	ENST00000373017;ENST00000277480;ENST00000373013;ENST00000540948;ENST00000372998	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	3.94	3.94	0.45596	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.133352	0.34178	N	0.004182	T	0.10766	0.0263	M	0.63843	1.955	0.40937	D	0.98443	P;P	0.35401	0.457;0.499	B;B	0.36719	0.227;0.231	T	0.05084	-1.0907	10	0.46703	T	0.11	-5.628	9.4326	0.38620	1.0:0.0:0.0:0.0	.	154;154	P80188-2;P80188	.;NGAL_HUMAN	Q	154;154;156;154;156	ENSP00000362108:K154Q;ENSP00000277480:K154Q;ENSP00000362104:K156Q;ENSP00000441666:K154Q;ENSP00000362089:K156Q	ENSP00000277480:K154Q	K	+	1	0	LCN2	129954110	1.000000	0.71417	0.994000	0.49952	0.121000	0.20230	4.318000	0.59190	1.791000	0.52520	0.374000	0.22700	AAG		0.547	LCN2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054375.1	NM_005564		24	79	0	0	0	0	24	79				
SYAP1	94056	broad.mit.edu	37	X	16775366	16775366	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:16775366G>A	ENST00000380155.3	+	8	958	c.865G>A	c.(865-867)Gat>Aat	p.D289N		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	289						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AAATCAGGAAGATCTAAGGAA	0.398																																						uc004cxp.2		NA																	0				skin(1)	1						c.(865-867)GAT>AAT		SYAP1 protein							141.0	131.0	134.0					X																	16775366		2203	4300	6503	SO:0001583	missense	94056							g.chrX:16775366G>A	AF338728	CCDS14177.1	Xp22.31	2010-06-25	2010-06-25		ENSG00000169895	ENSG00000169895			16273	protein-coding gene	gene with protein product	"""SAP47 homolog (Drosophila)"""					11483580	Standard	NM_032796		Approved	FLJ14495, PRO3113	uc004cxp.3	Q96A49	OTTHUMG00000021192	ENST00000380155.3:c.865G>A	X.37:g.16775366G>A	ENSP00000369500:p.Asp289Asn					SYAP1_uc004cxo.2_Missense_Mutation_p.D289N|SYAP1_uc011miv.1_Missense_Mutation_p.D255N	p.D289N	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN			8	958	+	Hepatocellular(33;0.0997)		289					Q68CP1|Q96C60|Q96JQ6|Q96T20	Missense_Mutation	SNP	ENST00000380155.3	37	c.865G>A	CCDS14177.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.631755	0.87660	.	.	ENSG00000169895	ENST00000380155	.	.	.	5.01	4.14	0.48551	.	0.138259	0.64402	N	0.000004	T	0.67163	0.2864	M	0.82323	2.585	0.58432	D	0.999995	D;P;P	0.53619	0.961;0.933;0.799	P;P;B	0.49637	0.617;0.518;0.343	T	0.70579	-0.4833	9	0.40728	T	0.16	-7.318	13.078	0.59097	0.0796:0.0:0.9204:0.0	.	255;289;289	B4E1C9;Q96A49;B2RBI2	.;SYAP1_HUMAN;.	N	289	.	ENSP00000369500:D289N	D	+	1	0	SYAP1	16685287	1.000000	0.71417	0.990000	0.47175	0.977000	0.68977	9.208000	0.95075	1.237000	0.43756	0.596000	0.82720	GAT		0.398	SYAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055904.1	NM_032796		39	29	0	0	0	0	39	29				
TAB3	257397	broad.mit.edu	37	X	30873379	30873379	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:30873379G>A	ENST00000378933.1	-	3	580	c.403C>T	c.(403-405)Ccc>Tcc	p.P135S	TAB3_ENST00000378932.2_Missense_Mutation_p.P135S|TAB3_ENST00000378930.3_Missense_Mutation_p.P135S|TAB3_ENST00000288422.2_Missense_Mutation_p.P135S|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378928.1_5'Flank	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	135					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTGTAGTTGGGAGTAGCAGCA	0.443																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2		NA																	0				ovary(1)	1						c.(403-405)CCC>TCC		mitogen-activated protein kinase kinase kinase 7							172.0	124.0	141.0					X																	30873379		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30873379G>A	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.403C>T	X.37:g.30873379G>A	ENSP00000368215:p.Pro135Ser					TAB3_uc004dck.2_Missense_Mutation_p.P135S|TAB3_uc010ngl.2_Missense_Mutation_p.P135S	p.P135S	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1066	-			135					A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.403C>T	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	9.216	1.032227	0.19590	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	4.92	4.04	0.47022	.	0.106995	0.64402	D	0.000003	T	0.66086	0.2754	L	0.39898	1.24	0.51482	D	0.999926	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.002	T	0.65709	-0.6102	10	0.52906	T	0.07	-2.402	13.3875	0.60803	0.0835:0.0:0.9165:0.0	.	135;135	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	S	135	ENSP00000368215:P135S;ENSP00000368212:P135S;ENSP00000288422:P135S;ENSP00000368214:P135S	ENSP00000288422:P135S	P	-	1	0	TAB3	30783300	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.219000	0.72231	2.172000	0.68678	0.600000	0.82982	CCC		0.443	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		28	15	0	0	0	0	28	15				
GATA1	2623	broad.mit.edu	37	X	48650432	48650432	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:48650432G>A	ENST00000376670.3	+	3	513	c.402G>A	c.(400-402)gaG>gaA	p.E134E	GATA1_ENST00000376665.3_Silent_p.E134E	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	134					basophil differentiation (GO:0030221)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cellular response to thyroid hormone stimulus (GO:0097067)|dendritic cell differentiation (GO:0097028)|embryonic hemopoiesis (GO:0035162)|eosinophil differentiation (GO:0030222)|eosinophil fate commitment (GO:0035854)|erythrocyte development (GO:0048821)|erythrocyte differentiation (GO:0030218)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|megakaryocyte differentiation (GO:0030219)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of definitive erythrocyte differentiation (GO:0010724)|regulation of glycoprotein biosynthetic process (GO:0010559)|transcription from RNA polymerase II promoter (GO:0006366)|transcriptional activation by promoter-enhancer looping (GO:0071733)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	C2H2 zinc finger domain binding (GO:0070742)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer sequence-specific DNA binding (GO:0001158)|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)|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 factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.?(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GCTTCCTGGAGACTTTGAAGA	0.612			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome																																Pancreas(9;429 505 11287 29617)	uc004dkq.3		NA		Dom	yes		X	Xp11.23	2623	Mis|F	GATA binding protein 1 (globin transcription factor 1)			L			megakaryoblastic leukemia of Downs Syndrome		2	Unknown(2)	p.?(2)|p.V74_C199del(1)	haematopoietic_and_lymphoid_tissue(2)	haematopoietic_and_lymphoid_tissue(246)|lung(2)	248						c.(400-402)GAG>GAA		GATA binding protein 1							59.0	50.0	53.0					X																	48650432		2203	4300	6503	SO:0001819	synonymous_variant	2623				basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:48650432G>A	X17254	CCDS14305.1	Xp11.23	2014-09-17	2001-11-28		ENSG00000102145	ENSG00000102145		"""GATA zinc finger domain containing"""	4170	protein-coding gene	gene with protein product	"""nuclear factor, erythroid 1"""	305371	"""GATA-binding protein 1 (globin transcription factor 1)"""	GF1		1999341	Standard	NM_002049		Approved	ERYF1, NFE1, GATA-1, NF-E1	uc004dkq.4	P15976	OTTHUMG00000021504	ENST00000376670.3:c.402G>A	X.37:g.48650432G>A							p.E134E	NM_002049	NP_002040	P15976	GATA1_HUMAN			3	493	+			134					Q96GB8	Silent	SNP	ENST00000376670.3	37	c.402G>A	CCDS14305.1																																																																																				0.612	GATA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056517.1	NM_002049		15	14	0	0	0	0	15	14				
KCND1	3750	broad.mit.edu	37	X	48826593	48826593	+	Missense_Mutation	SNP	G	G	A	rs181033799		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:48826593G>A	ENST00000218176.3	-	1	1383	c.86C>T	c.(85-87)cCg>cTg	p.P29L	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	29					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	CCCCGGTGCCGGGGGCAGGGG	0.662													g|||	1	0.000264901	0.0	0.0	3775	,	,		11885	0.001		0.0	False		,,,				2504	0.0					uc004dlx.1		NA																	0				ovary(2)|lung(1)	3						c.(85-87)CCG>CTG		potassium voltage-gated channel, Shal-related							16.0	13.0	14.0					X																	48826593		2195	4292	6487	SO:0001583	missense	3750					voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity	g.chrX:48826593G>A	AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.86C>T	X.37:g.48826593G>A	ENSP00000218176:p.Pro29Leu					KCND1_uc004dlw.1_5'Flank	p.P29L	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN			1	1659	-			29			Cytoplasmic (Potential).		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	ENST00000218176.3	37	c.86C>T	CCDS14314.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	2.817	-0.245604	0.05906	.	.	ENSG00000102057	ENST00000218176	D	0.96136	-3.92	4.37	4.37	0.52481	Shal-type voltage-gated potassium channels (1);	0.417238	0.23266	N	0.050070	D	0.90417	0.7000	L	0.28400	0.85	0.40406	D	0.979705	B	0.11235	0.004	B	0.10450	0.005	D	0.86591	0.1860	10	0.35671	T	0.21	.	8.9418	0.35733	0.0:0.0:0.6416:0.3583	.	29	Q9NSA2	KCND1_HUMAN	L	29	ENSP00000218176:P29L	ENSP00000218176:P29L	P	-	2	0	KCND1	48711537	0.001000	0.12720	0.893000	0.35052	0.402000	0.30811	0.375000	0.20518	2.027000	0.59764	0.422000	0.28245	CCG		0.662	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060774.1	NM_004979		3	8	0	0	0	0	3	8				
HUWE1	10075	broad.mit.edu	37	X	53560990	53560990	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:53560990G>A	ENST00000342160.3	-	82	13457	c.13000C>T	c.(13000-13002)Cgc>Tgc	p.R4334C	HUWE1_ENST00000262854.6_Missense_Mutation_p.R4334C			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4334	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GAAGGCAGGCGATCTGTGGAC	0.493																																						uc004dsp.2		NA																	0				ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17						c.(13000-13002)CGC>TGC		HECT, UBA and WWE domain containing 1							155.0	120.0	132.0					X																	53560990		2203	4300	6503	SO:0001583	missense	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53560990G>A	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13000C>T	X.37:g.53560990G>A	ENSP00000340648:p.Arg4334Cys					HUWE1_uc004dsn.2_Missense_Mutation_p.R3142C	p.R4334C	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN			83	13402	-			4334			HECT.		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	c.13000C>T	CCDS35301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.43|10.43	1.348498|1.348498	0.24426|0.24426	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.60920|.	0.15;0.15|.	5.42|5.42	4.5|4.5	0.54988|0.54988	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79575|0.79575	0.4469|0.4469	M|M	0.91561|0.91561	3.22|3.22	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.75484|.	0.986;0.976|.	T|T	0.83148|0.83148	-0.0105|-0.0105	10|5	0.87932|.	D|.	0|.	.|.	10.4274|10.4274	0.44387|0.44387	0.0:0.0:0.6343:0.3657|0.0:0.0:0.6343:0.3657	.|.	4334;4318|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	C|L	4334|3367;1156	ENSP00000340648:R4334C;ENSP00000262854:R4334C|.	ENSP00000262854:R4334C|.	R|S	-|-	1|2	0|0	HUWE1|HUWE1	53577715|53577715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.003000|4.003000	0.57061|0.57061	2.436000|2.436000	0.82500|0.82500	0.529000|0.529000	0.55759|0.55759	CGC|TCG		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119		23	19	0	0	0	0	23	19				
ITM2A	9452	broad.mit.edu	37	X	78616833	78616833	+	Silent	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:78616833G>A	ENST00000373298.2	-	5	839	c.696C>T	c.(694-696)ctC>ctT	p.L232L	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Silent_p.L188L	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	232						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						TACCCAGCAAGAGGTCTCTGC	0.433																																						uc004edh.2		NA																	0				lung(2)	2						c.(694-696)CTC>CTT		integral membrane protein 2A							100.0	87.0	91.0					X																	78616833		2203	4299	6502	SO:0001819	synonymous_variant	9452					integral to membrane	protein binding	g.chrX:78616833G>A	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.696C>T	X.37:g.78616833G>A						ITM2A_uc011mqr.1_Silent_p.L188L	p.L232L	NM_004867	NP_004858	O43736	ITM2A_HUMAN			5	1031	-			232					B2R7X5|B4E062|Q6IBC9	Silent	SNP	ENST00000373298.2	37	c.696C>T	CCDS14444.1																																																																																				0.433	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		31	25	0	0	0	0	31	25				
TRMT2B	79979	broad.mit.edu	37	X	100290613	100290613	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:100290613G>C	ENST00000372936.3	-	7	1370	c.598C>G	c.(598-600)Caa>Gaa	p.Q200E	TRMT2B_ENST00000372931.5_Missense_Mutation_p.Q200E|TRMT2B_ENST00000372939.1_Missense_Mutation_p.Q155E|TRMT2B_ENST00000545398.1_Missense_Mutation_p.Q200E|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Missense_Mutation_p.Q200E|TRMT2B_ENST00000338687.7_Missense_Mutation_p.Q155E	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	200						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						TGCGCCACTTGACTGTGTTTC	0.393																																						uc004egq.2		NA																	0				ovary(1)	1						c.(598-600)CAA>GAA		TRM2 tRNA methyltransferase 2 homolog B							215.0	187.0	197.0					X																	100290613		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100290613G>C	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.598C>G	X.37:g.100290613G>C	ENSP00000362027:p.Gln200Glu					TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.Q200E|TRMT2B_uc004egs.2_Missense_Mutation_p.Q200E|TRMT2B_uc004egt.2_Missense_Mutation_p.Q200E|TRMT2B_uc004egu.2_Missense_Mutation_p.Q81E|TRMT2B_uc004egv.2_Missense_Mutation_p.Q155E	p.Q200E	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN			6	897	-			200					A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.598C>G	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.390011	0.42410	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.42513	0.99;0.97;0.99;0.97;0.97;0.98	4.72	4.72	0.59763	.	0.199460	0.44902	D	0.000417	T	0.44477	0.1295	M	0.72894	2.215	0.36419	D	0.864178	P;B;B	0.43633	0.813;0.112;0.112	B;B;B	0.44224	0.444;0.024;0.053	T	0.50964	-0.8765	10	0.09084	T	0.74	-9.8503	14.7442	0.69477	0.0:0.0:1.0:0.0	.	155;200;200	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	E	155;200;155;200;200;200	ENSP00000340970:Q155E;ENSP00000438134:Q200E;ENSP00000362030:Q155E;ENSP00000362026:Q200E;ENSP00000362027:Q200E;ENSP00000362022:Q200E	ENSP00000340970:Q155E	Q	-	1	0	TRMT2B	100177269	1.000000	0.71417	0.992000	0.48379	0.650000	0.38633	5.614000	0.67695	2.282000	0.76494	0.594000	0.82650	CAA		0.393	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		24	31	0	0	0	0	24	31				
GPRASP2	114928	broad.mit.edu	37	X	101971015	101971015	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:101971015C>G	ENST00000535209.1	+	4	2049	c.1218C>G	c.(1216-1218)atC>atG	p.I406M	GPRASP2_ENST00000332262.5_Missense_Mutation_p.I406M|GPRASP2_ENST00000543253.1_Missense_Mutation_p.I406M			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	406						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCTGTGAATCTG	0.547																																						uc004ejk.2		NA																	0				ovary(1)	1						c.(1216-1218)ATC>ATG		G protein-coupled receptor associated sorting							61.0	64.0	63.0					X																	101971015		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101971015C>G	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1218C>G	X.37:g.101971015C>G	ENSP00000437394:p.Ile406Met					GPRASP2_uc004ejl.2_Missense_Mutation_p.I406M|GPRASP2_uc004ejm.2_Missense_Mutation_p.I406M|GPRASP2_uc011mrp.1_5'Flank	p.I406M	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	2552	+			406					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1218C>G	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.448033	0.26074	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07021	3.23;3.23;3.23	4.44	-0.404	0.12396	.	0.309092	0.23384	N	0.048768	T	0.09291	0.0229	L	0.54323	1.7	0.19300	N	0.999977	P	0.51653	0.947	P	0.47744	0.556	T	0.17018	-1.0383	10	0.46703	T	0.11	.	3.4385	0.07454	0.1937:0.3819:0.0:0.4245	.	406	Q96D09	GASP2_HUMAN	M	406	ENSP00000437872:I406M;ENSP00000437394:I406M;ENSP00000339057:I406M	ENSP00000339057:I406M	I	+	3	3	GPRASP2	101857671	0.100000	0.21855	0.377000	0.26055	0.966000	0.64601	-0.193000	0.09573	-0.242000	0.09667	0.600000	0.82982	ATC		0.547	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		3	37	0	0	0	0	3	37				
ELF4	2000	broad.mit.edu	37	X	129205093	129205093	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:129205093G>C	ENST00000308167.5	-	7	1110	c.731C>G	c.(730-732)tCc>tGc	p.S244C	ELF4_ENST00000335997.7_Missense_Mutation_p.S244C	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CACAGCTTTGGAGTCCACCAG	0.522			T	ERG	AML																																	uc004evd.3		NA		Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				ovary(1)	1						c.(730-732)TCC>TGC		E74-like factor 4							192.0	158.0	169.0					X																	129205093		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129205093G>C	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.731C>G	X.37:g.129205093G>C	ENSP00000311280:p.Ser244Cys					ELF4_uc004eve.3_Missense_Mutation_p.S244C	p.S244C	NM_001421	NP_001412	Q99607	ELF4_HUMAN			7	1116	-			244			ETS.			Missense_Mutation	SNP	ENST00000308167.5	37	c.731C>G	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574057	0.86542	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.57107	0.42;0.42	5.34	5.34	0.76211	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.000000	0.85682	D	0.000000	T	0.75436	0.3849	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80202	-0.1480	10	0.87932	D	0	.	15.3663	0.74526	0.0:0.0:1.0:0.0	.	244	Q99607	ELF4_HUMAN	C	244	ENSP00000338608:S244C;ENSP00000311280:S244C	ENSP00000311280:S244C	S	-	2	0	ELF4	129032774	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.830000	0.99415	2.219000	0.72066	0.513000	0.50165	TCC		0.522	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		63	40	0	0	0	0	63	40				
ARHGAP36	158763	broad.mit.edu	37	X	130220635	130220635	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:130220635T>A	ENST00000276211.5	+	11	1827	c.1482T>A	c.(1480-1482)gaT>gaA	p.D494E	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.D358E|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.D482E	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	494					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGCCTTCTGATGAAGGTCAGT	0.537																																						uc004evz.2		NA																	0				ovary(3)	3						c.(1480-1482)GAT>GAA		hypothetical protein LOC158763 precursor							73.0	64.0	67.0					X																	130220635		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220635T>A		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1482T>A	X.37:g.130220635T>A	ENSP00000276211:p.Asp494Glu					ARHGAP36_uc004ewa.2_Missense_Mutation_p.D482E|ARHGAP36_uc004ewb.2_Missense_Mutation_p.D463E|ARHGAP36_uc004ewc.2_Missense_Mutation_p.D358E	p.D494E	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN			11	1827	+			494					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1482T>A	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183699	0.38609	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.10005	2.92;2.92;2.94;2.95	4.21	4.21	0.49690	.	0.132739	0.34906	N	0.003591	T	0.08179	0.0204	N	0.08118	0	0.36135	D	0.846402	P;P;B	0.41313	0.534;0.745;0.0	B;P;B	0.46110	0.308;0.504;0.001	T	0.36817	-0.9732	10	0.46703	T	0.11	.	10.6055	0.45392	0.0:0.0:0.0:1.0	.	463;482;494	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	E	494;482;463;358	ENSP00000276211:D494E;ENSP00000359960:D482E;ENSP00000408515:D463E;ENSP00000359959:D358E	ENSP00000276211:D494E	D	+	3	2	ARHGAP36	130048316	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.112000	0.50368	1.866000	0.54105	0.486000	0.48141	GAT		0.537	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		7	32	0	0	0	0	7	32				
GPC4	2239	broad.mit.edu	37	X	132440099	132440099	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:132440099C>T	ENST00000370828.3	-	5	1485	c.961G>A	c.(961-963)Gat>Aat	p.D321N	GPC4_ENST00000535467.1_Missense_Mutation_p.D251N	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	321					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					ATAATAGCATCAGAAATCTTC	0.488																																						uc004exc.1		NA																	0					0						c.(961-963)GAT>AAT		glypican 4 precursor							153.0	134.0	141.0					X																	132440099		2203	4300	6503	SO:0001583	missense	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132440099C>T	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.961G>A	X.37:g.132440099C>T	ENSP00000359864:p.Asp321Asn					GPC4_uc011mvg.1_Missense_Mutation_p.D251N	p.D321N	NM_001448	NP_001439	O75487	GPC4_HUMAN			5	1173	-	Acute lymphoblastic leukemia(192;0.000127)		321					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Missense_Mutation	SNP	ENST00000370828.3	37	c.961G>A	CCDS14637.1	.	.	.	.	.	.	.	.	.	.	c	35	5.590680	0.96590	.	.	ENSG00000076716	ENST00000370828;ENST00000536418;ENST00000535467	T;T	0.54479	0.57;0.57	5.78	5.78	0.91487	.	0.088701	0.85682	D	0.000000	T	0.70996	0.3288	M	0.62016	1.91	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.73338	-0.4014	10	0.87932	D	0	-23.2778	17.8525	0.88751	0.0:1.0:0.0:0.0	.	321	O75487	GPC4_HUMAN	N	321;315;251	ENSP00000359864:D321N;ENSP00000444959:D251N	ENSP00000359864:D321N	D	-	1	0	GPC4	132267765	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	7.487000	0.81328	2.435000	0.82474	0.597000	0.82753	GAT		0.488	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448		41	35	0	0	0	0	41	35				
GPC3	2719	broad.mit.edu	37	X	132795857	132795857	+	Silent	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:132795857C>T	ENST00000370818.3	-	6	1759	c.1314G>A	c.(1312-1314)agG>agA	p.R438R	GPC3_ENST00000543339.1_Silent_p.R384R|GPC3_ENST00000394299.2_Silent_p.R461R	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	438					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCATTCCATTCCTTGCTGCCT	0.413			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1		NA	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			0				lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(1312-1314)AGG>AGA		glypican 3 isoform 2 precursor							120.0	108.0	112.0					X																	132795857		2203	4300	6503	SO:0001819	synonymous_variant	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132795857C>T	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1314G>A	X.37:g.132795857C>T						GPC3_uc004exd.1_Silent_p.R310R|GPC3_uc010nrn.1_Silent_p.R461R|GPC3_uc011mvh.1_Silent_p.R422R|GPC3_uc010nro.1_Silent_p.R384R	p.R438R	NM_004484	NP_004475	P51654	GPC3_HUMAN			6	1504	-	Acute lymphoblastic leukemia(192;0.000127)		438					C9JLE3|G3V1R0|Q2L880|Q2L882	Silent	SNP	ENST00000370818.3	37	c.1314G>A	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	C	8.779	0.927713	0.18056	.	.	ENSG00000147257	ENST00000406757	.	.	.	5.32	4.46	0.54185	.	.	.	.	.	T	0.59609	0.2206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56637	-0.7946	4	.	.	.	.	9.098	0.36651	0.0:0.8958:0.0:0.1042	.	.	.	.	E	168	.	.	G	-	2	0	GPC3	132623523	0.975000	0.34042	1.000000	0.80357	0.907000	0.53573	0.292000	0.19011	1.134000	0.42165	0.594000	0.82650	GGA		0.413	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		15	23	0	0	0	0	15	23				
MAGEC2	51438	broad.mit.edu	37	X	141291674	141291674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:141291674C>T	ENST00000247452.3	-	3	447	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	34	Poly-Glu.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTCCTCATCTGTGGGA	0.522										HNSCC(46;0.14)																												uc004fbu.1		NA																	0				breast(2)	2						c.(100-102)GAG>AAG		melanoma antigen family C, 2							121.0	118.0	119.0					X																	141291674		2203	4300	6503	SO:0001583	missense	51438					cytoplasm|nucleus		g.chrX:141291674C>T	AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.100G>A	X.37:g.141291674C>T	ENSP00000354660:p.Glu34Lys	HNSCC(46;0.14)					p.E34K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN			3	448	-	Acute lymphoblastic leukemia(192;6.56e-05)		34			Poly-Glu.		Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	c.100G>A	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	12.19	1.863757	0.32884	.	.	ENSG00000046774	ENST00000247452	T	0.02323	4.34	0.896	-0.195	0.13236	.	1.235040	0.06671	N	0.766191	T	0.01454	0.0047	N	0.08118	0	0.09310	N	1	P	0.48911	0.917	B	0.35899	0.213	T	0.44907	-0.9297	9	0.41790	T	0.15	.	.	.	.	.	34	Q9UBF1	MAGC2_HUMAN	K	34	ENSP00000354660:E34K	ENSP00000354660:E34K	E	-	1	0	MAGEC2	141119340	0.000000	0.05858	0.007000	0.13788	0.003000	0.03518	0.098000	0.15189	-0.136000	0.11475	-0.728000	0.03583	GAG		0.522	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249		45	41	0	0	0	0	45	41				
HCFC1	3054	broad.mit.edu	37	X	153215717	153215717	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chrX:153215717G>A	ENST00000310441.7	-	24	6947	c.5981C>T	c.(5980-5982)gCc>gTc	p.A1994V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A1925V|HCFC1_ENST00000369984.4_Missense_Mutation_p.A2039V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1994	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|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)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACTTGTGTGGCCGGGCCATA	0.622																																						uc004fjp.2		NA																	0				ovary(2)	2						c.(5980-5982)GCC>GTC		host cell factor 1							51.0	52.0	52.0					X																	153215717		2091	4184	6275	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153215717G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5981C>T	X.37:g.153215717G>A	ENSP00000309555:p.Ala1994Val						p.A1994V	NM_005334	NP_005325	P51610	HCFC1_HUMAN			24	6509	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1994					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.5981C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176420	0.94846	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.53857	0.6;0.6;0.6	5.36	5.36	0.76844	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.72645	0.3486	M	0.77616	2.38	0.48288	D	0.999621	D	0.57899	0.981	D	0.65443	0.935	T	0.76664	-0.2876	10	0.72032	D	0.01	.	16.8817	0.86065	0.0:0.0:1.0:0.0	.	1994	P51610	HCFC1_HUMAN	V	1994;2039;1925	ENSP00000309555:A1994V;ENSP00000359001:A2039V;ENSP00000346174:A1925V	ENSP00000309555:A1994V	A	-	2	0	HCFC1	152868911	1.000000	0.71417	0.879000	0.34478	0.912000	0.54170	9.862000	0.99564	2.247000	0.74100	0.525000	0.51046	GCC		0.622	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		26	11	0	0	0	0	26	11				
CASZ1	54897	broad.mit.edu	37	1	10715845	10715857	+	Frame_Shift_Del	DEL	ATCACGTCCTGCT	ATCACGTCCTGCT	-	rs199542043		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:10715845_10715857delATCACGTCCTGCT	ENST00000377022.3	-	9	1831_1843	c.1514_1526delAGCAGGACGTGAT	c.(1513-1527)aagcaggacgtgatcfs	p.KQDVI505fs	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Frame_Shift_Del_p.KQDVI505fs	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	505					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GTAGTGGCGGATCACGTCCTGCTTACTCGTGAA	0.629																																						uc001aro.2		NA																	0				skin(1)	1						c.(1513-1527)AAGCAGGACGTGATCfs		castor homolog 1, zinc finger isoform a																																				SO:0001589	frameshift_variant	54897				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr1:10715845_10715857delATCACGTCCTGCT	AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1514_1526delAGCAGGACGTGAT	1.37:g.10715845_10715857delATCACGTCCTGCT	ENSP00000366221:p.Lys505fs					CASZ1_uc001arp.1_Frame_Shift_Del_p.K505fs|CASZ1_uc009vmx.2_Frame_Shift_Del_p.K529fs	p.K505fs	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)	9	1834_1846	-	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	505_509					Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Frame_Shift_Del	DEL	ENST00000377022.3	37	c.1514_1526delAGCAGGACGTGAT	CCDS41246.1																																																																																				0.629	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005673.2	NM_017766		17	31	NA	NA	NA	NA	17	31	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39801943	39801943	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr1:39801943delA	ENST00000372915.3	+	36	9785	c.9698delA	c.(9697-9699)gaafs	p.E3233fs	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Frame_Shift_Del_p.E3265fs|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Frame_Shift_Del_p.E3228fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E1668fs|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3233					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)			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)			CTCAAATCTGAAATAGCAACA	0.398																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(5002-5004)GAAfs		microfilament and actin filament cross-linker							71.0	72.0	71.0					1																	39801943		2202	4300	6502	SO:0001589	frameshift_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.chr1:39801943delA	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.9698delA	1.37:g.39801943delA	ENSP00000362006:p.Glu3233fs					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.E1668fs	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)		1	5134	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	3233					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Frame_Shift_Del	DEL	ENST00000372915.3	37	c.5003delA																																																																																					0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		7	102	NA	NA	NA	NA	7	102	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37482137	37482137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr10:37482137delT	ENST00000602533.1	+	27	2496	c.2397delT	c.(2395-2397)tctfs	p.S799fs	ANKRD30A_ENST00000374660.1_Frame_Shift_Del_p.S918fs|ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.S799fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	855					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAAGTTTCTATTCCAACTA	0.264																																						uc001iza.1		NA																	0				ovary(7)|breast(1)|skin(1)	9						c.(2395-2397)TCTfs		ankyrin repeat domain 30A							63.0	61.0	61.0					10																	37482137		1785	4059	5844	SO:0001589	frameshift_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37482137delT	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2397delT	10.37:g.37482137delT	ENSP00000473551:p.Ser799fs						p.S799fs	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			27	2496	+			855					Q5W025	Frame_Shift_Del	DEL	ENST00000602533.1	37	c.2397delT																																																																																					0.264	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		12	72	NA	NA	NA	NA	12	72	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7734149	7734149	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr17:7734149delT	ENST00000572933.1	+	79	13679	c.12219delT	c.(12217-12219)actfs	p.T4073fs	DNAH2_ENST00000389173.2_Frame_Shift_Del_p.T4073fs			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4073					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCTATCAACTCCCTTCCACC	0.567																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(12217-12219)ACTfs		dynein heavy chain domain 3							57.0	62.0	60.0					17																	7734149		2203	4300	6503	SO:0001589	frameshift_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734149delT	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12219delT	17.37:g.7734149delT	ENSP00000458355:p.Thr4073fs					DNAH2_uc010cnm.1_Frame_Shift_Del_p.T1011fs	p.T4073fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			78	12233	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4073			TPR 4.		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Frame_Shift_Del	DEL	ENST00000572933.1	37	c.12219delT	CCDS32551.1																																																																																				0.567	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		13	21	NA	NA	NA	NA	13	21	---	---	---	---
SERPINB2	5055	broad.mit.edu	37	18	61562580	61562581	+	Frame_Shift_Del	DEL	AG	AG	-	rs149564761|rs200387636	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr18:61562580_61562581delAG	ENST00000299502.4	+	3	331_332	c.251_252delAG	c.(250-252)cagfs	p.Q84fs	SERPINB2_ENST00000457692.1_Frame_Shift_Del_p.Q84fs|SERPINB2_ENST00000482254.1_3'UTR	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	84					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	TTCATGCAGCAGATCCAGAAGG	0.431																																						uc010xeu.1		NA																	0				lung(1)|skin(1)	2						c.(250-252)CAGfs		serine (or cysteine) proteinase inhibitor, clade	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)																																			SO:0001589	frameshift_variant	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61562580_61562581delAG	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.251_252delAG	18.37:g.61562580_61562581delAG	ENSP00000299502:p.Gln84fs					SERPINB2_uc002ljo.2_Frame_Shift_Del_p.Q84fs|SERPINB2_uc010dqh.2_Frame_Shift_Del_p.Q14fs|SERPINB2_uc002ljp.1_5'Flank|SERPINB2_uc002ljq.1_5'Flank	p.Q84fs	NM_001143818	NP_001137290	P05120	PAI2_HUMAN			4	584_585	+		Esophageal squamous(42;0.131)	84					Q96E96	Frame_Shift_Del	DEL	ENST00000299502.4	37	c.251_252delAG	CCDS11989.1																																																																																				0.431	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		14	229	NA	NA	NA	NA	14	229	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133543004	133543004	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:133543004delG	ENST00000409261.1	-	14	1753	c.1380delC	c.(1378-1380)cccfs	p.P460fs	NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P460fs|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	460										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GTTCCTTGCAGGGGCTCCCCA	0.478																																						uc002ttp.2		NA																	0					0						c.(1378-1380)CCCfs		Nck-associated protein 5 isoform 1							56.0	55.0	55.0					2																	133543004		1877	4103	5980	SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133543004delG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1380delC	2.37:g.133543004delG	ENSP00000387128:p.Pro460fs					NCKAP5_uc002ttq.2_Intron	p.P460fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	1754	-			460					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Del	DEL	ENST00000409261.1	37	c.1380delC	CCDS46418.1																																																																																				0.478	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		14	49	NA	NA	NA	NA	14	49	---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158115183	158115183	+	Frame_Shift_Del	DEL	C	C	-	rs540292162		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:158115183delC	ENST00000259056.4	+	1	1074	c.589delC	c.(589-591)cccfs	p.P197fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	197					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAAACAGGAGCCCCGGAAGAG	0.473																																						uc002tzg.2		NA																	0				breast(3)|skin(1)	4						c.(589-591)CCCfs		N-acetylgalactosaminyltransferase 5							45.0	49.0	48.0					2																	158115183		2203	4300	6503	SO:0001589	frameshift_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158115183delC	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.589delC	2.37:g.158115183delC	ENSP00000259056:p.Pro197fs					GALNT5_uc010zci.1_RNA	p.P197fs	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			1	844	+			197			Lumenal (Potential).		A5PKZ1|Q9UGK7|Q9UHL6	Frame_Shift_Del	DEL	ENST00000259056.4	37	c.589delC	CCDS2203.1																																																																																				0.473	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		11	36	NA	NA	NA	NA	11	36	---	---	---	---
MARCH4	57574	broad.mit.edu	37	2	217234943	217234945	+	In_Frame_Del	DEL	CAC	CAC	-	rs145386484	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr2:217234943_217234945delCAC	ENST00000273067.4	-	1	1805_1807	c.39_41delGTG	c.(37-42)tggtgc>tgc	p.W13del		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	13						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.W13delW(1)		breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GGAGCAGCAGCACCACCACCACC	0.616																																						uc002vgb.2		NA																	1	Deletion - In frame(1)		breast(1)	ovary(1)	1						c.(37-42)TGGTGC>TGC		membrane-associated ring finger (C3HC4) 4																																				SO:0001651	inframe_deletion	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217234943_217234945delCAC	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.39_41delGTG	2.37:g.217234952_217234954delCAC	ENSP00000273067:p.Trp13del						p.W13del	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	1	1806_1808	-		Renal(323;0.0854)	13					Q4KMN7|Q86WR8	In_Frame_Del	DEL	ENST00000273067.4	37	c.39_41delGTG	CCDS33376.1																																																																																				0.616	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		2	4	NA	NA	NA	NA	2	4	---	---	---	---
CAMKV	79012	broad.mit.edu	37	3	49898901	49898907	+	Frame_Shift_Del	DEL	AGTGCAA	AGTGCAA	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:49898901_49898907delAGTGCAA	ENST00000477224.1	-	5	884_890	c.406_412delTTGCACT	c.(406-414)ttgcactcafs	p.LHS136fs	CAMKV_ENST00000488336.1_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000467248.1_Frame_Shift_Del_p.LHS61fs|CAMKV_ENST00000463537.1_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000466940.1_Intron|RN7SL217P_ENST00000584520.1_RNA|CAMKV_ENST00000296471.7_Frame_Shift_Del_p.LHS136fs|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	136	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATCTTGAGTGAGTGCAAATAGGCCACG	0.609																																						uc003cxt.1		NA																	0				ovary(2)|lung(2)|large_intestine(2)|central_nervous_system(1)	7						c.(406-414)TTGCACTCAfs		CaM kinase-like vesicle-associated																																				SO:0001589	frameshift_variant	79012					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity	g.chr3:49898901_49898907delAGTGCAA	BC017363	CCDS33762.1	3p21.31	2005-03-04			ENSG00000164076	ENSG00000164076			28788	protein-coding gene	gene with protein product		614993				12477932	Standard	XM_005265478		Approved	MGC8407, VACAMKL	uc003cxt.1	Q8NCB2	OTTHUMG00000158288	ENST00000477224.1:c.406_412delTTGCACT	3.37:g.49898901_49898907delAGTGCAA	ENSP00000419195:p.Leu136fs					CAMKV_uc011bcy.1_Frame_Shift_Del_p.L61fs|CAMKV_uc003cxv.1_Frame_Shift_Del_p.L136fs|CAMKV_uc003cxw.1_5'UTR|CAMKV_uc003cxx.1_5'UTR|CAMKV_uc003cxu.2_Frame_Shift_Del_p.L136fs|CAMKV_uc011bcz.1_Frame_Shift_Del_p.L99fs|CAMKV_uc011bda.1_Intron|CAMKV_uc011bdb.1_RNA	p.L136fs	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	5	599_605	-			136_138			Protein kinase.		A6NFD4|Q6FIB8|Q8NBS8|Q8NC85|Q8NDU4|Q8WTT8|Q9BQC9|Q9H0Q5	Frame_Shift_Del	DEL	ENST00000477224.1	37	c.406_412delTTGCACT	CCDS33762.1																																																																																				0.609	CAMKV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350584.4	NM_024046		7	47	NA	NA	NA	NA	7	47	---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170784400	170784409	+	Frame_Shift_Del	DEL	ACATCCTTAG	ACATCCTTAG	-			TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:170784400_170784409delACATCCTTAG	ENST00000436636.2	-	31	4159_4168	c.3815_3824delCTAAGGATGT	c.(3814-3825)actaaggatgtgfs	p.TKDV1272fs	TNIK_ENST00000538048.1_Frame_Shift_Del_p.TKDV1224fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.TKDV1217fs|TNIK_ENST00000464785.1_5'Flank|TNIK_ENST00000460047.1_Frame_Shift_Del_p.TKDV1209fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.TKDV1243fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.TKDV1264fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.TKDV1250fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.TKDV1188fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.TKDV1180fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.TKDV1235fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1272	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTGGAGCACCACATCCTTAGTTATCCGGCC	0.448																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(3814-3825)ACTAAGGATGTGfs		TRAF2 and NCK interacting kinase isoform 1																																				SO:0001589	frameshift_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170784400_170784409delACATCCTTAG	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.3815_3824delCTAAGGATGT	3.37:g.170784400_170784409delACATCCTTAG	ENSP00000399511:p.Thr1272fs					TNIK_uc003fhi.2_Frame_Shift_Del_p.T1217fs|TNIK_uc003fhj.2_Frame_Shift_Del_p.T1243fs|TNIK_uc003fhk.2_Frame_Shift_Del_p.T1264fs|TNIK_uc003fhl.2_Frame_Shift_Del_p.T1188fs|TNIK_uc003fhm.2_Frame_Shift_Del_p.T1209fs|TNIK_uc003fhn.2_Frame_Shift_Del_p.T1235fs|TNIK_uc003fho.2_Frame_Shift_Del_p.T1180fs|TNIK_uc003fhg.2_Frame_Shift_Del_p.T450fs|TNIK_uc003fhp.2_Frame_Shift_Del_p.T204fs	p.T1272fs	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		31	4160_4169	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		1272_1275			CNH.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	c.3815_3824delCTAAGGATGT	CCDS46956.1																																																																																				0.448	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		14	122	NA	NA	NA	NA	14	122	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						uc003fnp.2		NA																	0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1372-1374)GAAdel		eukaryotic translation initiation factor 4																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_uc003fno.1_In_Frame_Del_p.E406del|EIF4G1_uc010hxw.1_In_Frame_Del_p.E301del|EIF4G1_uc003fnt.2_In_Frame_Del_p.E176del|EIF4G1_uc003fnq.2_In_Frame_Del_p.E378del|EIF4G1_uc003fnr.2_In_Frame_Del_p.E301del|EIF4G1_uc010hxx.2_In_Frame_Del_p.E472del|EIF4G1_uc003fns.2_In_Frame_Del_p.E425del|EIF4G1_uc010hxy.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnv.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnu.3_In_Frame_Del_p.E465del|EIF4G1_uc003fnw.2_In_Frame_Del_p.E472del|EIF4G1_uc003fnx.2_In_Frame_Del_p.E269del|EIF4G1_uc003fny.3_In_Frame_Del_p.E269del	p.E465del	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1570_1572	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	132	NA	NA	NA	NA	7	132	---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128490905	128490907	+	In_Frame_Del	DEL	ACA	ACA	-	rs373146637		TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr7:128490905_128490907delACA	ENST00000325888.8	+	33	5708_5710	c.5447_5449delACA	c.(5446-5451)gacaac>gac	p.N1817del	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_In_Frame_Del_p.N1784del	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1817					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AACATCACCGACAACAAGGACGG	0.596																																						uc003vnz.3		NA																	0				breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12						c.(5446-5451)GACAAC>GAC		gamma filamin isoform a																																				SO:0001651	inframe_deletion	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128490905_128490907delACA	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5447_5449delACA	7.37:g.128490908_128490910delACA	ENSP00000327145:p.Asn1817del					FLNC_uc003voa.3_In_Frame_Del_p.N1784del	p.N1817del	NM_001458	NP_001449	Q14315	FLNC_HUMAN			33	5656_5658	+			1817			Filamin 16.		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	In_Frame_Del	DEL	ENST00000325888.8	37	c.5447_5449delACA	CCDS43644.1																																																																																				0.596	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			27	73	NA	NA	NA	NA	27	73	---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1905058	1905067	+	Frame_Shift_Del	DEL	GCACTTCCGA	GCACTTCCGA	-	rs145146038|rs576755623	byFrequency	TCGA-CV-7406-01A-11D-2078-08	TCGA-CV-7406-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	8c9effa8-acb6-4db0-874a-8f0df386924c	b00b903e-f57c-4c6c-b6b8-ae40489e6167	g.chr8:1905058_1905067delGCACTTCCGA	ENST00000398564.1	+	29	3739_3748	c.3739_3748delGCACTTCCGA	c.(3739-3750)gcacttccgagtfs	p.ALPS1247fs	ARHGEF10_ENST00000262112.6_Frame_Shift_Del_p.ALPS1218fs|ARHGEF10_ENST00000518288.1_Frame_Shift_Del_p.ALPS1246fs|ARHGEF10_ENST00000520359.1_Frame_Shift_Del_p.ALPS1184fs|ARHGEF10_ENST00000349830.3_Frame_Shift_Del_p.ALPS1222fs|ARHGEF10_ENST00000521927.1_3'UTR			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1247					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A999T(1)|p.A1247T(1)		endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCAGAAGGACGCACTTCCGAGTGGAGGAGC	0.59																																						uc003wpr.2		NA																	2	Substitution - Missense(2)		endometrium(2)	large_intestine(1)	1						c.(3664-3675)GCACTTCCGAGTfs		Rho guanine nucleotide exchange factor 10																																				SO:0001589	frameshift_variant	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1905058_1905067delGCACTTCCGA	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3739_3748delGCACTTCCGA	8.37:g.1905058_1905067delGCACTTCCGA	ENSP00000381571:p.Ala1247fs					ARHGEF10_uc003wps.2_Frame_Shift_Del_p.A1184fs|ARHGEF10_uc010lre.2_Frame_Shift_Del_p.A873fs	p.A1222fs	NM_014629	NP_055444	O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	29	3842_3851	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	1247_1250					O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Frame_Shift_Del	DEL	ENST00000398564.1	37	c.3664_3673delGCACTTCCGA																																																																																					0.590	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				15	70	NA	NA	NA	NA	15	70	---	---	---	---
