#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
MTHFR	4524	broad.mit.edu	37	1	11861287	11861287	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:11861287C>T	ENST00000376592.1	-	2	534	c.406G>A	c.(406-408)Gag>Aag	p.E136K	MTHFR_ENST00000376590.3_Missense_Mutation_p.E136K|MTHFR_ENST00000376585.1_Missense_Mutation_p.E177K|MTHFR_ENST00000376583.3_Missense_Mutation_p.E177K			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	136					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)	p.E136K(1)		NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	GTGATCTCCTCCAGGCGCTGA	0.612																																						uc001atc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(406-408)GAG>AAG		5,10-methylenetetrahydrofolate reductase	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)						96.0	86.0	89.0					1																	11861287		2203	4300	6503	SO:0001583	missense	4524				blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding	g.chr1:11861287C>T	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.406G>A	1.37:g.11861287C>T	ENSP00000365777:p.Glu136Lys					MTHFR_uc001atb.1_Missense_Mutation_p.E159K	p.E136K	NM_005957	NP_005948	P42898	MTHR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	3	590	-	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	136					B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Missense_Mutation	SNP	ENST00000376592.1	37	c.406G>A	CCDS137.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537574	0.85917	.	.	ENSG00000177000	ENST00000376592;ENST00000376583;ENST00000376590;ENST00000376585;ENST00000418034	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	5.66	4.75	0.60458	.	0.368314	0.33075	N	0.005301	D	0.90277	0.6959	L	0.58583	1.82	0.49798	D	0.999826	B;B	0.29162	0.235;0.147	B;B	0.31101	0.1;0.124	D	0.88960	0.3393	10	0.72032	D	0.01	.	13.332	0.60492	0.0:0.9235:0.0:0.0765	.	136;177	P42898;Q5SNW6	MTHR_HUMAN;.	K	136;177;136;177;136	ENSP00000365777:E136K;ENSP00000365767:E177K;ENSP00000365775:E136K;ENSP00000365770:E177K;ENSP00000405082:E136K	ENSP00000365767:E177K	E	-	1	0	MTHFR	11783874	1.000000	0.71417	0.812000	0.32479	0.923000	0.55619	5.408000	0.66368	1.398000	0.46701	0.549000	0.68633	GAG		0.612	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000006538.1		NM_005957		17	96	0	0	0	0.049695	0	17	96		
PHACTR4	65979	broad.mit.edu	37	1	28786756	28786756	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:28786756G>C	ENST00000373839.3	+	4	485	c.224G>C	c.(223-225)aGa>aCa	p.R75T	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.R85T	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	75					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.R85T(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CGAAAGCCAAGAGAAGAGCTG	0.388																																						uc001bpw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(223-225)AGA>ACA		phosphatase and actin regulator 4 isoform 1							92.0	88.0	89.0					1																	28786756		1837	4087	5924	SO:0001583	missense	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28786756G>C	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.224G>C	1.37:g.28786756G>C	ENSP00000362945:p.Arg75Thr					PHACTR4_uc001bpu.2_Missense_Mutation_p.R75T|PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.R59T|PHACTR4_uc001bpy.2_Missense_Mutation_p.R85T	p.R75T	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	4	506	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	75			RPEL 1.		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	c.224G>C	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954544	0.92726	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.30448	1.53;1.53	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.60418	0.2267	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.64728	-0.6339	10	0.87932	D	0	-6.7164	18.406	0.90536	0.0:0.0:1.0:0.0	.	85;75;59	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	T	75;85;74	ENSP00000362945:R75T;ENSP00000362942:R85T	ENSP00000362942:R85T	R	+	2	0	PHACTR4	28659343	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.008000	0.76341	2.600000	0.87896	0.555000	0.69702	AGA		0.388	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4		NM_023923		8	39	0	0	0	0.058154	0	8	39		
C1orf168	199920	broad.mit.edu	37	1	57233546	57233546	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:57233546G>A	ENST00000343433.6	-	5	1099	c.1019C>T	c.(1018-1020)tCt>tTt	p.S340F	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	340								p.S340F(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGAGTTGCCAGAGTGTCTCAG	0.368																																						uc001cym.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)	5						c.(1018-1020)TCT>TTT		hypothetical protein LOC199920							158.0	142.0	147.0					1																	57233546		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57233546G>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1019C>T	1.37:g.57233546G>A	ENSP00000345972:p.Ser340Phe					C1orf168_uc009vzu.1_RNA	p.S340F	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			5	1425	-			340					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.1019C>T	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532200	0.64972	.	.	ENSG00000187889	ENST00000343433	T	0.36878	1.23	5.28	3.36	0.38483	.	0.108147	0.41500	D	0.000878	T	0.42562	0.1208	L	0.29908	0.895	0.33214	D	0.553841	D	0.61080	0.989	P	0.61201	0.885	T	0.56511	-0.7967	10	0.62326	D	0.03	-1.5051	11.9094	0.52731	0.0:0.3383:0.6617:0.0	.	340	Q5VWT5	CA168_HUMAN	F	340	ENSP00000345972:S340F	ENSP00000345972:S340F	S	-	2	0	C1orf168	57006134	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	2.137000	0.42130	0.759000	0.33084	0.650000	0.86243	TCT		0.368	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2		NM_001004303		23	107	0	0	0	0.0918	0	23	107		
C1orf168	199920	broad.mit.edu	37	1	57233561	57233561	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:57233561G>A	ENST00000343433.6	-	5	1084	c.1004C>T	c.(1003-1005)tCa>tTa	p.S335L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	335								p.S335L(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTCAGATATGAAATTGTTGC	0.353																																						uc001cym.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)	5						c.(1003-1005)TCA>TTA		hypothetical protein LOC199920							152.0	137.0	143.0					1																	57233561		2203	4300	6503	SO:0001583	missense	199920							g.chr1:57233561G>A	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.1004C>T	1.37:g.57233561G>A	ENSP00000345972:p.Ser335Leu					C1orf168_uc009vzu.1_RNA	p.S335L	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			5	1410	-			335					Q63HM3|Q6ZUY6	Missense_Mutation	SNP	ENST00000343433.6	37	c.1004C>T	CCDS30729.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183972	0.78677	.	.	ENSG00000187889	ENST00000343433	T	0.34667	1.35	5.18	5.18	0.71444	.	0.511935	0.16738	N	0.201562	T	0.44371	0.1290	L	0.32530	0.975	0.31967	N	0.607681	D	0.67145	0.996	P	0.59357	0.856	T	0.43589	-0.9382	10	0.37606	T	0.19	-4.4886	14.0693	0.64851	0.0:0.0:1.0:0.0	.	335	Q5VWT5	CA168_HUMAN	L	335	ENSP00000345972:S335L	ENSP00000345972:S335L	S	-	2	0	C1orf168	57006149	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.501000	0.60393	2.706000	0.92434	0.650000	0.86243	TCA		0.353	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2		NM_001004303		24	109	0	0	0	0.108266	0	24	109		
DIRAS3	9077	broad.mit.edu	37	1	68512369	68512369	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:68512369G>A	ENST00000370981.1	-	4	1248	c.612C>T	c.(610-612)acC>acT	p.T204T	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Silent_p.T204T|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	204					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.T204T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CCTGGAGGCCGGTGGTGGGCT	0.527																																						uc001ded.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(610-612)ACC>ACT		DIRAS family, GTP-binding RAS-like 3							120.0	122.0	121.0					1																	68512369		2203	4300	6503	SO:0001819	synonymous_variant	9077				regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:68512369G>A	U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.612C>T	1.37:g.68512369G>A						uc001deb.1_Intron|uc001dec.1_Intron	p.T204T	NM_004675	NP_004666	O95661	DIRA3_HUMAN			2	907	-			204					B3KMP3	Silent	SNP	ENST00000370981.1	37	c.612C>T	CCDS641.1																																																																																				0.527	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026354.2		NM_004675		51	120	0	0	0	0.139131	0	51	120		
SSX2IP	117178	broad.mit.edu	37	1	85127956	85127956	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:85127956C>G	ENST00000342203.3	-	8	1115	c.852G>C	c.(850-852)atG>atC	p.M284I	SSX2IP_ENST00000605755.1_Missense_Mutation_p.M257I|SSX2IP_ENST00000370612.4_Missense_Mutation_p.M284I|SSX2IP_ENST00000603677.1_Intron|SSX2IP_ENST00000437941.2_Missense_Mutation_p.M257I	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	284					cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.M284I(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTCCTTTTTCATTTGTTGAA	0.323																																						uc001dkh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(850-852)ATG>ATC		synovial sarcoma, X breakpoint 2 interacting							154.0	172.0	166.0					1																	85127956		2203	4300	6503	SO:0001583	missense	117178				cell adhesion	nucleus|protein complex		g.chr1:85127956C>G		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.852G>C	1.37:g.85127956C>G	ENSP00000340279:p.Met284Ile					SSX2IP_uc001dkf.2_Missense_Mutation_p.M257I|SSX2IP_uc001dkg.2_RNA|SSX2IP_uc010orz.1_Missense_Mutation_p.M257I|SSX2IP_uc001dki.2_Missense_Mutation_p.M284I|SSX2IP_uc010osa.1_Missense_Mutation_p.M257I|SSX2IP_uc001dkj.2_Missense_Mutation_p.M284I|SSX2IP_uc009wci.2_Intron|SSX2IP_uc001dkk.1_Missense_Mutation_p.M280I	p.M284I	NM_014021	NP_054740	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	9	1127	-			284			Potential.		A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Missense_Mutation	SNP	ENST00000342203.3	37	c.852G>C	CCDS699.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547860	0.86022	.	.	ENSG00000117155	ENST00000342203;ENST00000437941;ENST00000544699;ENST00000370612	T;T	0.54279	0.58;0.59	5.48	5.48	0.80851	.	0.033970	0.85682	D	0.000000	T	0.50188	0.1601	L	0.60455	1.87	0.58432	D	0.999995	P;B;P	0.41929	0.532;0.397;0.765	P;B;B	0.45195	0.473;0.281;0.351	T	0.57347	-0.7827	10	0.87932	D	0	-0.5834	19.3432	0.94352	0.0:1.0:0.0:0.0	.	280;284;257	F5H549;Q9Y2D8;B4DFE3	.;ADIP_HUMAN;.	I	284;257;280;284	ENSP00000340279:M284I;ENSP00000412781:M257I	ENSP00000340279:M284I	M	-	3	0	SSX2IP	84900544	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.716000	0.68437	2.593000	0.87608	0.591000	0.81541	ATG		0.323	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1		NM_014021		7	231	0	0	0	0.02938	0	7	231		
TGFBR3	7049	broad.mit.edu	37	1	92185667	92185667	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:92185667C>G	ENST00000525962.1	-	8	1257	c.1196G>C	c.(1195-1197)gGa>gCa	p.G399A	TGFBR3_ENST00000212355.4_Missense_Mutation_p.G399A|TGFBR3_ENST00000370399.2_Missense_Mutation_p.G398A			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	399					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)	p.G399A(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGGAAGGCCTCCATTTTGGCC	0.582																																						uc001doh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(1195-1197)GGA>GCA		transforming growth factor, beta receptor III							51.0	54.0	53.0					1																	92185667		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92185667C>G	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.1196G>C	1.37:g.92185667C>G	ENSP00000436127:p.Gly399Ala					TGFBR3_uc009wde.2_Missense_Mutation_p.G176A|TGFBR3_uc010osy.1_Missense_Mutation_p.G357A|TGFBR3_uc001doi.2_Missense_Mutation_p.G398A|TGFBR3_uc001doj.2_Missense_Mutation_p.G398A	p.G399A	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	9	1662	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	399			Extracellular (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.1196G>C	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	C	7.452	0.642820	0.14451	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.30182	1.54;1.54;1.54;1.54	4.3	4.3	0.51218	.	0.461234	0.20414	N	0.092813	T	0.14570	0.0352	L	0.51422	1.61	0.28079	N	0.932264	P;P;P	0.43287	0.754;0.802;0.754	B;B;B	0.40677	0.256;0.337;0.184	T	0.05784	-1.0864	10	0.48119	T	0.1	-5.7774	7.6355	0.28264	0.0:0.7325:0.1717:0.0957	.	399;398;399	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	A	399;398;399;398	ENSP00000212355:G399A;ENSP00000359426:G398A;ENSP00000436127:G399A;ENSP00000432638:G398A	ENSP00000212355:G399A	G	-	2	0	TGFBR3	91958255	0.805000	0.28982	0.969000	0.41365	0.045000	0.14185	2.180000	0.42537	2.693000	0.91896	0.655000	0.94253	GGA		0.582	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1		NM_003243		27	57	0	0	0	0.116897	0	27	57		
RTCA	8634	broad.mit.edu	37	1	100732130	100732130	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:100732130C>T	ENST00000370128.4	+	2	265	c.96C>T	c.(94-96)ctC>ctT	p.L32L	RTCA_ENST00000260563.4_Silent_p.L32L|RTCA_ENST00000370126.1_Silent_p.L32L|RP11-305E17.6_ENST00000421185.1_RNA|RTCA_ENST00000498617.1_3'UTR	NM_003729.3	NP_003720.1	O00442	RTCA_HUMAN	RNA 3'-terminal phosphate cyclase	32					RNA processing (GO:0006396)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA-3'-phosphate cyclase activity (GO:0003963)	p.L32L(1)									TCCTAGGCCTCCCCTTGCGGG	0.637																																						uc001dtc.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(94-96)CTC>CTT		RNA terminal phosphate cyclase domain 1 isoform							31.0	28.0	29.0					1																	100732130		2203	4300	6503	SO:0001819	synonymous_variant	8634				RNA processing	mitochondrion|nucleoplasm	ATP binding|protein binding|RNA binding|RNA-3'-phosphate cyclase activity	g.chr1:100732130C>T	Y11651	CCDS768.1, CCDS44178.1	1p13.3	2012-03-30	2012-03-30	2012-03-30	ENSG00000137996	ENSG00000137996	6.5.1.4		17981	protein-coding gene	gene with protein product		611286	"""RTC domain containing 1"", ""RNA terminal phosphate cyclase domain 1"""	RTCD1		9184239	Standard	NM_003729		Approved	RPC, RTC1	uc001dtd.3	O00442	OTTHUMG00000010920	ENST00000370128.4:c.96C>T	1.37:g.100732130C>T						RTCD1_uc010ouh.1_Silent_p.L32L|RTCD1_uc001dtd.2_Silent_p.L32L	p.L32L	NM_003729	NP_003720	O00442	RTC1_HUMAN		Epithelial(280;0.0513)|all cancers(265;0.0902)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	2	314	+		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	32					Q5VVL5|Q5VVL6|Q96E99	Silent	SNP	ENST00000370128.4	37	c.96C>T	CCDS768.1																																																																																				0.637	RTCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030098.2				5	13	0	0	0	0.021553	0	5	13		
ANKRD35	148741	broad.mit.edu	37	1	145558885	145558885	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:145558885C>G	ENST00000355594.4	+	7	591	c.504C>G	c.(502-504)atC>atG	p.I168M	ANKRD35_ENST00000544626.1_3'UTR	NM_144698.3	NP_653299.4	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	168								p.I168M(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACGCAGCTATCTGCTCACAGC	0.572																																					Melanoma(9;127 754 22988 51047)	uc001eob.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(1)	5						c.(502-504)ATC>ATG		ankyrin repeat domain 35							112.0	105.0	107.0					1																	145558885		2203	4300	6503	SO:0001583	missense	148741							g.chr1:145558885C>G	AK091120	CCDS72867.1, CCDS72868.1	1q21.1	2013-01-10			ENSG00000198483	ENSG00000198483		"""Ankyrin repeat domain containing"""	26323	protein-coding gene	gene with protein product							Standard	NM_144698		Approved	FLJ25124	uc001eob.1	Q8N283	OTTHUMG00000013743	ENST00000355594.4:c.504C>G	1.37:g.145558885C>G	ENSP00000347802:p.Ile168Met					NBPF10_uc001emp.3_Intron|ANKRD35_uc010oyx.1_Missense_Mutation_p.I11M	p.I168M	NM_144698	NP_653299	Q8N283	ANR35_HUMAN			7	612	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		168			ANK 4.		A6NEU0|B4DL62|Q3MJ10|Q96LS3	Missense_Mutation	SNP	ENST00000355594.4	37	c.504C>G	CCDS919.1	.	.	.	.	.	.	.	.	.	.	C	19.13	3.767402	0.69878	.	.	ENSG00000198483	ENST00000453670;ENST00000355594	T	0.68181	-0.31	5.65	4.73	0.59995	Ankyrin repeat-containing domain (4);	0.000000	0.48767	D	0.000172	T	0.70046	0.3179	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72164	-0.4373	10	0.62326	D	0.03	-11.8258	11.0196	0.47709	0.0:0.9117:0.0:0.0883	.	168	Q8N283	ANR35_HUMAN	M	77;168	ENSP00000347802:I168M	ENSP00000347802:I168M	I	+	3	3	ANKRD35	144270242	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	1.529000	0.35996	2.663000	0.90544	0.655000	0.94253	ATC		0.572	ANKRD35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038515.1		NM_144698		26	90	0	0	0	0.0918	0	26	90		
CGN	57530	broad.mit.edu	37	1	151491775	151491775	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:151491775C>T	ENST00000271636.7	+	2	913	c.780C>T	c.(778-780)ctC>ctT	p.L260L		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	254	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)	p.L260L(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGAGTCCTCTCAGTGGCTTTA	0.582																																						uc009wmw.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(1)|lung(1)	ovary(2)|pancreas(1)	3						c.(778-780)CTC>CTT		cingulin							58.0	61.0	60.0					1																	151491775		2203	4300	6503	SO:0001819	synonymous_variant	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491775C>T	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.780C>T	1.37:g.151491775C>T							p.L260L	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	924	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		254			Interacts with ZO-2.|Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Silent	SNP	ENST00000271636.7	37	c.780C>T	CCDS999.1																																																																																				0.582	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3		NM_020770		13	40	0	0	0	0.105934	0	13	40		
ADAM15	8751	broad.mit.edu	37	1	155033250	155033250	+	Missense_Mutation	SNP	C	C	T	rs200056227		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:155033250C>T	ENST00000356955.2	+	19	2320	c.2219C>T	c.(2218-2220)tCt>tTt	p.S740F	ADAM15_ENST00000271836.6_Missense_Mutation_p.S740F|EFNA4_ENST00000427683.2_5'Flank|ADAM15_ENST00000355956.2_Missense_Mutation_p.S740F|ADAM15_ENST00000368410.2_Missense_Mutation_p.S446F|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.S740F|ADAM15_ENST00000359280.4_Missense_Mutation_p.S740F|ADAM15_ENST00000472434.1_3'UTR|EFNA4_ENST00000368409.3_5'Flank|EFNA3_ENST00000556931.1_5'Flank|ADAM15_ENST00000368413.1_Missense_Mutation_p.S446F|EFNA4_ENST00000359751.4_5'Flank|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000531455.1_Missense_Mutation_p.S750F|EFNA3_ENST00000505139.1_5'Flank	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	740					angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.S740F(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GCAGCCCAATCTGGTCCCTCT	0.602																																						uc001fgr.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(3)|skin(2)|ovary(1)	6						c.(2218-2220)TCT>TTT		a disintegrin and metalloproteinase domain 15							90.0	91.0	91.0					1																	155033250		2203	4300	6503	SO:0001583	missense	8751				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding	g.chr1:155033250C>T	U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.2219C>T	1.37:g.155033250C>T	ENSP00000349436:p.Ser740Phe					EFNA3_uc010pew.1_5'Flank|ADAM15_uc001fgq.1_Missense_Mutation_p.S425F|ADAM15_uc010peu.1_Missense_Mutation_p.S757F|ADAM15_uc001fgt.1_Missense_Mutation_p.S740F|ADAM15_uc010pev.1_Missense_Mutation_p.S750F|ADAM15_uc001fgs.1_Intron|ADAM15_uc001fgu.1_Missense_Mutation_p.S740F|ADAM15_uc001fgw.1_Missense_Mutation_p.S740F|ADAM15_uc001fgv.1_Missense_Mutation_p.S740F|ADAM15_uc001fgx.1_Intron|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Missense_Mutation_p.S31F|EFNA4_uc001fhc.2_5'Flank|EFNA4_uc001fhd.2_5'Flank|EFNA4_uc001fhe.2_5'Flank	p.S740F	NM_207197	NP_997080	Q13444	ADA15_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		19	2320	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		740			Cytoplasmic (Potential).		B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	c.2219C>T	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.429775	0.25726	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000355956;ENST00000368410;ENST00000271836;ENST00000368413;ENST00000531455	T;T;T;T;T;T;T;T	0.02369	5.63;5.62;5.66;5.66;4.32;5.66;4.32;5.68	4.78	3.82	0.43975	.	0.691298	0.12673	N	0.448601	T	0.02688	0.0081	L	0.27053	0.805	0.09310	N	0.999998	P;P;D;D;P;P;P;P;P	0.58970	0.919;0.919;0.984;0.984;0.951;0.951;0.951;0.919;0.919	P;P;P;P;P;P;P;P;P	0.62560	0.707;0.707;0.865;0.904;0.847;0.847;0.847;0.62;0.713	T	0.52223	-0.8604	10	0.39692	T	0.17	.	10.3078	0.43691	0.1953:0.8047:0.0:0.0	.	750;757;740;740;740;740;740;740;737	E9PN65;B7Z390;Q13444-7;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444;Q59GF2	.;.;.;.;.;.;.;ADA15_HUMAN;.	F	740;740;740;740;446;740;446;750	ENSP00000349436:S740F;ENSP00000403843:S740F;ENSP00000352226:S740F;ENSP00000348227:S740F;ENSP00000357395:S446F;ENSP00000271836:S740F;ENSP00000357398:S446F;ENSP00000432927:S750F	ENSP00000271836:S740F	S	+	2	0	ADAM15	153299874	0.003000	0.15002	0.046000	0.18839	0.108000	0.19459	1.554000	0.36266	2.490000	0.84030	0.655000	0.94253	TCT		0.602	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1		NM_003815		7	46	0	0	0	0.038147	0	7	46		
YY1AP1	55249	broad.mit.edu	37	1	155629585	155629585	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:155629585C>T	ENST00000295566.4	-	11	2277	c.2254G>A	c.(2254-2256)Gag>Aag	p.E752K	YY1AP1_ENST00000368340.5_Missense_Mutation_p.E824K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.E675K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.E675K|YY1AP1_ENST00000359205.5_Missense_Mutation_p.E695K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.E844K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.E686K|YY1AP1_ENST00000347088.5_Missense_Mutation_p.E706K|YY1AP1_ENST00000535662.1_Missense_Mutation_p.E552K|YY1AP1_ENST00000368330.2_Missense_Mutation_p.E706K|YY1AP1_ENST00000355499.4_Missense_Mutation_p.E706K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.E695K	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	752					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E844K(1)|p.E752K(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTTCCCTCCTCTGTTTTCACA	0.537																																						uc001fln.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(2254-2256)GAG>AAG		YY1-associated protein isoform 2							132.0	122.0	126.0					1																	155629585		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155629585C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2254G>A	1.37:g.155629585C>T	ENSP00000295566:p.Glu752Lys					YY1AP1_uc001flg.2_Missense_Mutation_p.E491K|YY1AP1_uc010pgg.1_Missense_Mutation_p.E591K|YY1AP1_uc010pgh.1_Missense_Mutation_p.E695K|YY1AP1_uc010pgi.1_Missense_Mutation_p.E844K|YY1AP1_uc001flh.2_Missense_Mutation_p.E824K|YY1AP1_uc009wqt.2_Missense_Mutation_p.E675K|YY1AP1_uc001flk.2_Missense_Mutation_p.E695K|YY1AP1_uc001fll.2_Missense_Mutation_p.E706K|YY1AP1_uc009wqv.2_Missense_Mutation_p.E423K|YY1AP1_uc001flm.2_Missense_Mutation_p.E695K|YY1AP1_uc001fli.2_Missense_Mutation_p.E706K|YY1AP1_uc009wqu.2_Missense_Mutation_p.E539K|YY1AP1_uc001flj.2_Missense_Mutation_p.E686K|YY1AP1_uc009wqw.2_Missense_Mutation_p.E675K|YY1AP1_uc001flo.2_Missense_Mutation_p.E640K|YY1AP1_uc001flp.2_Missense_Mutation_p.E706K	p.E752K	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	2278	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		752					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2254G>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	22.9	4.354562	0.82243	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.28454	1.66;1.66;1.7;1.66;1.66;1.65;1.67;1.66;1.7;1.7;1.61;1.7	2.57	1.49	0.22878	.	0.376691	0.26289	N	0.025221	T	0.35278	0.0926	L	0.54323	1.7	0.80722	D	1	D;D;P;D;D	0.76494	0.966;0.999;0.811;0.999;0.996	P;D;P;D;P	0.85130	0.721;0.994;0.828;0.997;0.877	T	0.22521	-1.0214	10	0.66056	D	0.02	.	9.6023	0.39612	0.0:0.7855:0.2145:0.0	.	844;686;752;706;824	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	K	695;706;675;706;695;824;752;706;675;686;844;552	ENSP00000352134:E695K;ENSP00000347686:E706K;ENSP00000311138:E675K;ENSP00000316079:E706K;ENSP00000355298:E695K;ENSP00000357324:E824K;ENSP00000295566:E752K;ENSP00000357314:E706K;ENSP00000385791:E675K;ENSP00000385390:E686K;ENSP00000357323:E844K;ENSP00000437926:E552K	ENSP00000295566:E752K	E	-	1	0	YY1AP1	153896209	0.280000	0.24249	0.997000	0.53966	0.645000	0.38454	1.443000	0.35057	1.424000	0.47217	0.313000	0.20887	GAG		0.537	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118		30	99	0	0	0	0.134883	0	30	99		
YY1AP1	55249	broad.mit.edu	37	1	155629592	155629592	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:155629592C>T	ENST00000295566.4	-	11	2270	c.2247G>A	c.(2245-2247)gtG>gtA	p.V749V	YY1AP1_ENST00000368340.5_Silent_p.V821V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000311573.5_Silent_p.V672V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000407221.1_Silent_p.V672V|YY1AP1_ENST00000359205.5_Silent_p.V692V|YY1AP1_ENST00000368339.5_Silent_p.V841V|YY1AP1_ENST00000404643.1_Silent_p.V683V|YY1AP1_ENST00000347088.5_Silent_p.V703V|YY1AP1_ENST00000535662.1_Silent_p.V549V|YY1AP1_ENST00000368330.2_Silent_p.V703V|YY1AP1_ENST00000355499.4_Silent_p.V703V|YY1AP1_ENST00000361831.5_Silent_p.V692V	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	749					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.V841V(1)|p.V749V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTCTGTTTTCACAACGGTCC	0.527																																						uc001fln.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(2245-2247)GTG>GTA		YY1-associated protein isoform 2							135.0	125.0	128.0					1																	155629592		2203	4300	6503	SO:0001819	synonymous_variant	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155629592C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2247G>A	1.37:g.155629592C>T						YY1AP1_uc001flg.2_Silent_p.V488V|YY1AP1_uc010pgg.1_Silent_p.V588V|YY1AP1_uc010pgh.1_Silent_p.V692V|YY1AP1_uc010pgi.1_Silent_p.V841V|YY1AP1_uc001flh.2_Silent_p.V821V|YY1AP1_uc009wqt.2_Silent_p.V672V|YY1AP1_uc001flk.2_Silent_p.V692V|YY1AP1_uc001fll.2_Silent_p.V703V|YY1AP1_uc009wqv.2_Silent_p.V420V|YY1AP1_uc001flm.2_Silent_p.V692V|YY1AP1_uc001fli.2_Silent_p.V703V|YY1AP1_uc009wqu.2_Silent_p.V536V|YY1AP1_uc001flj.2_Silent_p.V683V|YY1AP1_uc009wqw.2_Silent_p.V672V|YY1AP1_uc001flo.2_Silent_p.V637V|YY1AP1_uc001flp.2_Silent_p.V703V	p.V749V	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	2271	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		749					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	ENST00000295566.4	37	c.2247G>A	CCDS1115.1																																																																																				0.527	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1		NM_139118		30	106	0	0	0	0.144211	0	30	106		
TMEM79	84283	broad.mit.edu	37	1	156261349	156261349	+	Missense_Mutation	SNP	C	C	T	rs374038301		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:156261349C>T	ENST00000405535.2	+	4	1316	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.A382V|TMEM79_ENST00000357501.2_Silent_p.R143R|C1orf85_ENST00000482579.1_5'Flank	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	382					cornification (GO:0070268)|cuticle development (GO:0042335)|epithelial cell maturation (GO:0002070)|establishment of skin barrier (GO:0061436)|hair follicle morphogenesis (GO:0031069)|positive regulation of epidermis development (GO:0045684)|regulated secretory pathway (GO:0045055)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)		p.A382V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					CCGGACCACGCCCGCTCGGCC	0.657																																						uc010phi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1144-1146)GCC>GTC		transmembrane protein 79		C	VAL/ALA	0,4402		0,0,2201	57.0	61.0	60.0		1145	1.7	0.3	1		60	1,8599		0,1,4299	no	missense	TMEM79	NM_032323.2	64	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	382/395	156261349	1,13001	2201	4300	6501	SO:0001583	missense	84283					integral to membrane		g.chr1:156261349C>T	BC005094	CCDS1138.1	1q22	2014-04-22			ENSG00000163472	ENSG00000163472			28196	protein-coding gene	gene with protein product	"""mattrin"""	615531					Standard	NM_032323		Approved	MGC13102, FLJ16057, FLJ32254, MATT	uc009wrw.3	Q9BSE2	OTTHUMG00000019788	ENST00000405535.2:c.1145C>T	1.37:g.156261349C>T	ENSP00000384748:p.Ala382Val					TMEM79_uc001fod.2_Missense_Mutation_p.A223V|TMEM79_uc009wrw.2_Missense_Mutation_p.A382V|C1orf85_uc001fof.3_Intron|C1orf85_uc001fog.1_Intron	p.A382V	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN			4	1341	+	Hepatocellular(266;0.158)		382					B2RE22|D3DVB8	Missense_Mutation	SNP	ENST00000405535.2	37	c.1145C>T	CCDS1138.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.256292	0.22965	0.0	1.16E-4	ENSG00000163472	ENST00000295694;ENST00000405535	T;T	0.45668	0.89;0.89	5.7	1.69	0.24217	.	0.488841	0.21671	N	0.070870	T	0.07143	0.0181	N	0.17082	0.46	0.19775	N	0.999952	B	0.13145	0.007	B	0.12156	0.007	T	0.40515	-0.9559	10	0.14252	T	0.57	0.0124	5.5799	0.17245	0.0:0.5094:0.2641:0.2265	.	382	Q9BSE2	TMM79_HUMAN	V	382	ENSP00000295694:A382V;ENSP00000384748:A382V	ENSP00000295694:A382V	A	+	2	0	TMEM79	154527973	0.002000	0.14202	0.267000	0.24556	0.298000	0.27526	0.037000	0.13840	0.059000	0.16252	0.655000	0.94253	GCC		0.657	TMEM79-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052101.1		NM_032323		7	37	0	0	0	0.043863	0	7	37		
ARHGEF11	9826	broad.mit.edu	37	1	156948001	156948001	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:156948001G>C	ENST00000361409.2	-	6	1247	c.505C>G	c.(505-507)Ctg>Gtg	p.L169V	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.L169V	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	169					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L169V(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTACCTGCAGAGGTTTGGGT	0.552																																						uc001fqo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(505-507)CTG>GTG		Rho guanine nucleotide exchange factor (GEF) 11							114.0	95.0	101.0					1																	156948001		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156948001G>C	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.505C>G	1.37:g.156948001G>C	ENSP00000354644:p.Leu169Val					ARHGEF11_uc001fqn.2_Missense_Mutation_p.L169V	p.L169V	NM_014784	NP_055599	O15085	ARHGB_HUMAN			6	1545	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		169					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.505C>G	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402956	0.42613	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.64260	-0.06;-0.09	4.68	4.68	0.58851	.	0.000000	0.40469	N	0.001081	T	0.60274	0.2256	L	0.34521	1.04	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.974	T	0.62478	-0.6846	10	0.49607	T	0.09	-9.5025	11.0545	0.47909	0.0906:0.0:0.9094:0.0	.	169;169	O15085;O15085-2	ARHGB_HUMAN;.	V	169	ENSP00000357177:L169V;ENSP00000354644:L169V	ENSP00000354644:L169V	L	-	1	2	ARHGEF11	155214625	0.991000	0.36638	0.994000	0.49952	0.285000	0.27093	2.201000	0.42734	2.573000	0.86826	0.563000	0.77884	CTG		0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1		NM_198236		13	30	0	0	0	0.11911	0	13	30		
OR10X1	128367	broad.mit.edu	37	1	158549553	158549553	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:158549553A>G	ENST00000368150.1	-	1	136	c.137T>C	c.(136-138)gTc>gCc	p.V46A		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V46A(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ACAAAAGAAGACCACAAAAAG	0.433																																						uc010pin.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(136-138)GTC>GCC		olfactory receptor, family 10, subfamily X,							127.0	125.0	126.0					1																	158549553		2203	4300	6503	SO:0001583	missense	128367				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158549553A>G	BK004194	CCDS30900.1	1q23.1	2013-10-10	2013-10-10	2004-03-10	ENSG00000186400	ENSG00000186400		"""GPCR / Class A : Olfactory receptors"""	14995	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily X, member 1"""	OR10X1P			Standard	NM_001004477		Approved		uc010pin.2	Q8NGY0	OTTHUMG00000019635	ENST00000368150.1:c.137T>C	1.37:g.158549553A>G	ENSP00000357132:p.Val46Ala						p.V46A	NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN			1	137	-	all_hematologic(112;0.0378)		46			Helical; Name=1; (Potential).		Q6IFR8	Missense_Mutation	SNP	ENST00000368150.1	37	c.137T>C	CCDS30900.1	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046976	0.36085	.	.	ENSG00000186400	ENST00000368150	T	0.03094	4.05	5.13	4.01	0.46588	.	0.904797	0.09235	N	0.830068	T	0.01254	0.0041	L	0.28192	0.835	0.09310	N	1	B	0.28378	0.209	B	0.24394	0.053	T	0.48592	-0.9022	10	0.66056	D	0.02	.	9.92	0.41459	0.9184:0.0:0.0816:0.0	.	46	Q8NGY0	O10X1_HUMAN	A	46	ENSP00000357132:V46A	ENSP00000357132:V46A	V	-	2	0	OR10X1	156816177	0.077000	0.21312	0.220000	0.23810	0.998000	0.95712	3.786000	0.55431	0.960000	0.38005	0.528000	0.53228	GTC		0.433	OR10X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051850.2		NM_001004477		37	108	0	0	0	0.11126	0	37	108		
PPOX	5498	broad.mit.edu	37	1	161138959	161138959	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:161138959G>C	ENST00000367999.4	+	7	1059	c.793G>C	c.(793-795)Gaa>Caa	p.E265Q	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.E265Q|PPOX_ENST00000495483.1_3'UTR|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000544598.1_Intron	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	265					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)	p.E265Q(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CCTCCAGGCAGAAGGGCGCTG	0.567																																						uc001fyj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(793-795)GAA>CAA		protoporphyrinogen oxidase							45.0	47.0	47.0					1																	161138959		2203	4300	6503	SO:0001583	missense	5498	Porphyria_Variegata			heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161138959G>C	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.793G>C	1.37:g.161138959G>C	ENSP00000356978:p.Glu265Gln					PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.E265Q|PPOX_uc001fyl.2_Missense_Mutation_p.E231Q|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.E103Q|PPOX_uc001fyh.2_Missense_Mutation_p.E103Q|PPOX_uc010pkg.1_Missense_Mutation_p.E103Q|PPOX_uc009wuc.1_Missense_Mutation_p.E103Q|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Missense_Mutation_p.E103Q	p.E265Q	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	1083	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		265					D3DVG0|Q5VTW8	Missense_Mutation	SNP	ENST00000367999.4	37	c.793G>C	CCDS1221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.60|14.60	2.582472|2.582472	0.46006|0.46006	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935|ENST00000537523	D;D|.	0.97710|.	-4.5;-4.5|.	5.26|5.26	5.26|5.26	0.73747|0.73747	Amine oxidase (1);|.	0.574211|.	0.18755|.	N|.	0.132046|.	T|T	0.35068|0.35068	0.0919|0.0919	N|N	0.17082|0.17082	0.46|0.46	0.80722|0.80722	D|D	1|1	B;P;B|.	0.39847|.	0.008;0.691;0.03|.	B;B;B|.	0.33196|.	0.045;0.159;0.042|.	T|T	0.22800|0.22800	-1.0206|-1.0206	10|5	0.27785|.	T|.	0.31|.	-15.3938|-15.3938	13.6268|13.6268	0.62170|0.62170	0.0:0.0:0.8443:0.1557|0.0:0.0:0.8443:0.1557	.|.	232;103;265|.	B4DY76;B3KT30;P50336|.	.;.;PPOX_HUMAN|.	Q|H	265;265;232|77	ENSP00000343943:E265Q;ENSP00000356978:E265Q|.	ENSP00000343943:E265Q|.	E|Q	+|+	1|3	0|2	PPOX|PPOX	159405583|159405583	0.989000|0.989000	0.36119|0.36119	0.995000|0.995000	0.50966|0.50966	0.994000|0.994000	0.84299|0.84299	2.331000|2.331000	0.43894|0.43894	2.592000|2.592000	0.87571|0.87571	0.655000|0.655000	0.94253|0.94253	GAA|CAG		0.567	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1		NM_000309		16	41	0	0	0	0.038395	0	16	41		
DCAF6	55827	broad.mit.edu	37	1	168014277	168014277	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:168014277G>A	ENST00000312263.6	+	14	2043	c.1839G>A	c.(1837-1839)caG>caA	p.Q613Q	DCAF6_ENST00000432587.2_Silent_p.Q659Q|DCAF6_ENST00000367840.3_Silent_p.Q690Q|DCAF6_ENST00000367843.3_Silent_p.Q633Q	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	613					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Q633Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CTTCAGATCAGACTAGCACTG	0.453																																						uc001gew.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1837-1839)CAG>CAA		IQ motif and WD repeats 1 isoform b							82.0	85.0	84.0					1																	168014277		2203	4300	6503	SO:0001819	synonymous_variant	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:168014277G>A	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	ENST00000312263.6:c.1839G>A	1.37:g.168014277G>A						DCAF6_uc001gev.2_Silent_p.Q633Q|DCAF6_uc001gex.2_Silent_p.Q690Q|DCAF6_uc010plk.1_Silent_p.Q659Q|DCAF6_uc001gey.2_Silent_p.Q486Q|DCAF6_uc001gez.2_5'UTR	p.Q613Q	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN			14	2081	+			613					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	Silent	SNP	ENST00000312263.6	37	c.1839G>A	CCDS30933.1																																																																																				0.453	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2		NM_018442		37	90	0	0	0	0.069456	0	37	90		
SCYL3	57147	broad.mit.edu	37	1	169839492	169839492	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:169839492C>G	ENST00000367770.1	-	5	576	c.529G>C	c.(529-531)Gaa>Caa	p.E177Q	SCYL3_ENST00000367772.4_Missense_Mutation_p.E177Q|SCYL3_ENST00000367771.6_Missense_Mutation_p.E177Q|SCYL3_ENST00000470238.1_5'UTR			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)	p.E177Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTGTGAATTCTGGAGACTAA	0.398																																						uc001ggs.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|skin(1)	2						c.(529-531)GAA>CAA		SCY1-like 3 isoform 2							76.0	75.0	76.0					1																	169839492		2203	4300	6503	SO:0001583	missense	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169839492C>G	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.529G>C	1.37:g.169839492C>G	ENSP00000356744:p.Glu177Gln					SCYL3_uc010plw.1_5'UTR|SCYL3_uc001ggt.2_Missense_Mutation_p.E177Q|SCYL3_uc001ggu.2_RNA	p.E177Q	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN			6	727	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		177			Protein kinase.		A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Missense_Mutation	SNP	ENST00000367770.1	37	c.529G>C	CCDS1287.1	.	.	.	.	.	.	.	.	.	.	C	18.39	3.612947	0.66672	.	.	ENSG00000000457	ENST00000367772;ENST00000367771;ENST00000367770;ENST00000423670	D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57	5.27	5.27	0.74061	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.201910	0.51477	D	0.000083	D	0.88872	0.6555	L	0.47716	1.5	0.44816	D	0.997825	P;D	0.56968	0.71;0.978	B;P	0.55713	0.353;0.782	D	0.87147	0.2206	10	0.35671	T	0.21	-15.339	18.852	0.92235	0.0:1.0:0.0:0.0	.	177;177	Q8IZE3-2;Q8IZE3	.;PACE1_HUMAN	Q	177	ENSP00000356746:E177Q;ENSP00000356745:E177Q;ENSP00000356744:E177Q;ENSP00000407993:E177Q	ENSP00000356744:E177Q	E	-	1	0	SCYL3	168106116	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.788000	0.75105	2.614000	0.88457	0.557000	0.71058	GAA		0.398	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4		NM_181093		24	69	0	0	0	0.0918	0	24	69		
TRMT1L	81627	broad.mit.edu	37	1	185112497	185112497	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:185112497C>G	ENST00000367506.5	-	7	1119	c.851G>C	c.(850-852)gGa>gCa	p.G284A	TRMT1L_ENST00000367504.3_Missense_Mutation_p.G128A	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	284	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.G284A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACCAGTGGCTCCAAAAGCATC	0.343																																						uc001grf.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(850-852)GGA>GCA		N2,N2-dimethylguanosine tRNA							101.0	108.0	105.0					1																	185112497		2203	4300	6503	SO:0001583	missense	81627					intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr1:185112497C>G	AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.851G>C	1.37:g.185112497C>G	ENSP00000356476:p.Gly284Ala					C1orf25_uc010pon.1_Missense_Mutation_p.G128A	p.G284A	NM_030934	NP_112196	Q7Z2T5	TRM1L_HUMAN			7	1123	-			284					Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	c.851G>C	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259980	0.80246	.	.	ENSG00000121486	ENST00000367504;ENST00000367506	.	.	.	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.61198	0.2328	N	0.21097	0.63	0.80722	D	1	D	0.58620	0.983	P	0.62813	0.907	T	0.54636	-0.8264	9	0.15066	T	0.55	-18.5037	19.037	0.92983	0.0:1.0:0.0:0.0	.	284	Q7Z2T5	TRM1L_HUMAN	A	128;284	.	ENSP00000356474:G128A	G	-	2	0	TRMT1L	183379120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.968000	0.70413	2.495000	0.84180	0.591000	0.81541	GGA		0.343	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1		NM_030934		29	122	0	0	0	0.050027	0	29	122		
RPS6KC1	26750	broad.mit.edu	37	1	213303065	213303065	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:213303065G>A	ENST00000366960.3	+	6	818	c.668G>A	c.(667-669)cGt>cAt	p.R223H	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R42H|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R211H|RPS6KC1_ENST00000543354.1_Intron	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	223					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.R223fs*8(2)|p.R223H(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CGGGAAAGTCGTAGCCTCTTT	0.413																																						uc010ptr.1		NaN																	3	Deletion - Frameshift(2)|Substitution - Missense(1)		liver(2)|urinary_tract(1)	lung(4)|ovary(3)|breast(1)	8						c.(667-669)CGT>CAT		ribosomal protein S6 kinase, 52kDa, polypeptide							72.0	74.0	73.0					1																	213303065		2203	4300	6503	SO:0001583	missense	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213303065G>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.668G>A	1.37:g.213303065G>A	ENSP00000355927:p.Arg223His					RPS6KC1_uc001hkd.2_Missense_Mutation_p.R211H|RPS6KC1_uc010pts.1_Missense_Mutation_p.R42H|RPS6KC1_uc010ptt.1_Missense_Mutation_p.R42H|RPS6KC1_uc010ptu.1_Missense_Mutation_p.R42H|RPS6KC1_uc010ptv.1_5'UTR|RPS6KC1_uc001hke.2_Missense_Mutation_p.R42H	p.R223H	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	6	827	+			223					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Missense_Mutation	SNP	ENST00000366960.3	37	c.668G>A	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445574	0.43429	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959	T;T;T	0.36340	1.26;1.29;1.3	5.54	4.63	0.57726	.	0.534887	0.18473	N	0.140172	T	0.21227	0.0511	N	0.20986	0.625	0.80722	D	1	P;B;B	0.38745	0.645;0.05;0.05	B;B;B	0.28553	0.091;0.015;0.015	T	0.04041	-1.0982	10	0.41790	T	0.15	-32.2746	11.1299	0.48341	0.1589:0.0:0.8411:0.0	.	42;223;211	F5H7T0;Q96S38;B1APS8	.;KS6C1_HUMAN;.	H	42;223;211	ENSP00000442306:R42H;ENSP00000355927:R223H;ENSP00000355926:R211H	ENSP00000355926:R211H	R	+	2	0	RPS6KC1	211369688	0.998000	0.40836	0.876000	0.34364	0.992000	0.81027	3.720000	0.54933	1.346000	0.45694	0.591000	0.81541	CGT		0.413	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3		NM_012424		30	74	0	0	0	0.045705	0	30	74		
SPATA17	128153	broad.mit.edu	37	1	217975148	217975148	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:217975148G>C	ENST00000366933.4	+	9	1016	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	321						cytoplasm (GO:0005737)		p.E321Q(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTACAAAGAACAATTCCG	0.294																																						uc001hlh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(961-963)GAA>CAA		spermatogenesis associated 17							50.0	51.0	51.0					1																	217975148		2200	4289	6489	SO:0001583	missense	128153					cytoplasm	calmodulin binding	g.chr1:217975148G>C	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.961G>C	1.37:g.217975148G>C	ENSP00000355900:p.Glu321Gln					SPATA17_uc001hli.2_Missense_Mutation_p.E321Q	p.E321Q	NM_138796	NP_620151	Q96L03	SPT17_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)	9	987	+			321					A5D6N2	Missense_Mutation	SNP	ENST00000366933.4	37	c.961G>C	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	6.534	0.466712	0.12402	.	.	ENSG00000162814	ENST00000366933	T	0.42131	0.98	4.9	-9.8	0.00490	.	0.673920	0.13287	N	0.399280	T	0.09686	0.0238	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15037	-1.0451	10	0.14656	T	0.56	5.0379	3.3861	0.07272	0.4661:0.3189:0.0955:0.1195	.	321	Q96L03	SPT17_HUMAN	Q	321	ENSP00000355900:E321Q	ENSP00000355900:E321Q	E	+	1	0	SPATA17	216041771	0.011000	0.17503	0.000000	0.03702	0.106000	0.19336	0.664000	0.25068	-2.528000	0.00493	-0.253000	0.11424	GAA		0.294	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2		NM_138796		13	51	0	0	0	0.09319	0	13	51		
URB2	9816	broad.mit.edu	37	1	229773838	229773838	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:229773838C>T	ENST00000258243.2	+	4	3614	c.3478C>T	c.(3478-3480)Cag>Tag	p.Q1160*		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1160						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.Q1160*(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGTTTACTCTCAGATACTGTT	0.552																																						uc001hts.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(3478-3480)CAG>TAG		URB2 ribosome biogenesis 2 homolog							119.0	122.0	121.0					1																	229773838		2203	4300	6503	SO:0001587	stop_gained	9816					nucleolus		g.chr1:229773838C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3478C>T	1.37:g.229773838C>T	ENSP00000258243:p.Gln1160*					URB2_uc009xfd.1_Nonsense_Mutation_p.Q1160*	p.Q1160*	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	3614	+			1160					Q5VYC9	Nonsense_Mutation	SNP	ENST00000258243.2	37	c.3478C>T	CCDS31052.1	.	.	.	.	.	.	.	.	.	.	C	40	8.057441	0.98632	.	.	ENSG00000135763	ENST00000258243	.	.	.	5.65	2.61	0.31194	.	0.169610	0.52532	D	0.000063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.3586	10.3443	0.43897	0.2416:0.6929:0.0:0.0655	.	.	.	.	X	1160	.	.	Q	+	1	0	URB2	227840461	0.995000	0.38212	0.001000	0.08648	0.002000	0.02628	3.569000	0.53827	0.803000	0.34113	-0.291000	0.09656	CAG		0.552	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1		NM_014777		30	61	0	0	0	0.134883	0	30	61		
URB2	9816	broad.mit.edu	37	1	229773864	229773864	+	Silent	SNP	C	C	T	rs114023508	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:229773864C>T	ENST00000258243.2	+	4	3640	c.3504C>T	c.(3502-3504)ctC>ctT	p.L1168L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1168						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L1168L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCCAGCTCTCGCGGGACATG	0.527													C|||	11	0.00219649	0.0083	0.0	5008	,	,		18320	0.0		0.0	False		,,,				2504	0.0					uc001hts.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	central_nervous_system(2)|ovary(1)	3						c.(3502-3504)CTC>CTT		URB2 ribosome biogenesis 2 homolog		C		17,4389	24.3+/-50.5	0,17,2186	137.0	140.0	139.0		3504	-11.3	0.0	1	dbSNP_132	139	0,8600		0,0,4300	no	coding-synonymous	URB2	NM_014777.2		0,17,6486	TT,TC,CC		0.0,0.3858,0.1307		1168/1525	229773864	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229773864C>T	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.3504C>T	1.37:g.229773864C>T						URB2_uc009xfd.1_Silent_p.L1168L	p.L1168L	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	3640	+			1168					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.3504C>T	CCDS31052.1																																																																																				0.527	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1		NM_014777		35	64	0	0	0	0.064281	0	35	64		
COG2	22796	broad.mit.edu	37	1	230810788	230810788	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:230810788C>T	ENST00000366669.4	+	9	1059	c.944C>T	c.(943-945)tCt>tTt	p.S315F	COG2_ENST00000534989.1_Missense_Mutation_p.S256F|COG2_ENST00000366668.3_Missense_Mutation_p.S315F|COG2_ENST00000535166.1_Missense_Mutation_p.S199F	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	315					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)	p.S315F(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTGGTGAATTCTGTTTGGCCA	0.393																																						uc001htw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(943-945)TCT>TTT		component of oligomeric golgi complex 2 isoform							134.0	142.0	139.0					1																	230810788		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230810788C>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.944C>T	1.37:g.230810788C>T	ENSP00000355629:p.Ser315Phe					COG2_uc001htx.2_Missense_Mutation_p.S315F|COG2_uc010pwc.1_Missense_Mutation_p.S188F	p.S315F	NM_007357	NP_031383	Q14746	COG2_HUMAN			9	1095	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	315					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.944C>T	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	C	31	5.060449	0.93846	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989	T;T;T;T	0.05199	3.48;3.48;3.48;3.48	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.99;0.994	T	0.03597	-1.1021	10	0.56958	D	0.05	-21.0147	20.3081	0.98638	0.0:1.0:0.0:0.0	.	315;315	Q86U99;Q14746	.;COG2_HUMAN	F	315;199;315;256	ENSP00000355629:S315F;ENSP00000445724:S199F;ENSP00000355628:S315F;ENSP00000440349:S256F	ENSP00000355628:S315F	S	+	2	0	COG2	228877411	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.693000	0.84214	2.795000	0.96236	0.655000	0.94253	TCT		0.393	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1		NM_007357		43	134	0	0	0	0.11126	0	43	134		
PCNXL2	80003	broad.mit.edu	37	1	233394101	233394101	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:233394101C>T	ENST00000258229.9	-	5	1741	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	503						integral component of membrane (GO:0016021)		p.E503K(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACCTTAGACTCGGAGCCTGTA	0.562																																						uc001hvl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)|pancreas(1)	2						c.(1507-1509)GAG>AAG		pecanex-like 2							71.0	72.0	72.0					1																	233394101		2000	4174	6174	SO:0001583	missense	80003					integral to membrane		g.chr1:233394101C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1507G>A	1.37:g.233394101C>T	ENSP00000258229:p.Glu503Lys					PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	p.E503K	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			5	1742	-		all_cancers(173;0.0347)|Prostate(94;0.137)	503					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1507G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.348622	0.24426	.	.	ENSG00000135749	ENST00000258229	T	0.08634	3.07	5.05	-0.591	0.11675	.	.	.	.	.	T	0.03695	0.0105	N	0.14661	0.345	0.19775	N	0.999957	B	0.09022	0.002	B	0.01281	0.0	T	0.47548	-0.9109	9	0.08837	T	0.75	.	5.3212	0.15881	0.0:0.426:0.2644:0.3096	.	503	A6NKB5	PCX2_HUMAN	K	503	ENSP00000258229:E503K	ENSP00000258229:E503K	E	-	1	0	PCNXL2	231460724	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.577000	0.23758	0.018000	0.15052	0.650000	0.86243	GAG		0.562	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3		NM_014801		18	57	0	0	0	0.043863	0	18	57		
EXO1	9156	broad.mit.edu	37	1	242048726	242048726	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:242048726G>A	ENST00000366548.3	+	15	2915	c.2322G>A	c.(2320-2322)caG>caA	p.Q774Q	EXO1_ENST00000348581.5_Silent_p.Q774Q|EXO1_ENST00000518483.1_Silent_p.Q774Q	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	774	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.Q774Q(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CAAGCATCCAGAAGAGAAAGC	0.453								Editing and processing nucleases																														uc001hzh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|lung(2)|skin(1)	5						c.(2320-2322)CAG>CAA	Direct_reversal_of_damage|Editing_and_processing_nucleases	exonuclease 1 isoform b							78.0	84.0	82.0					1																	242048726		2203	4300	6503	SO:0001819	synonymous_variant	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242048726G>A	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2322G>A	1.37:g.242048726G>A						EXO1_uc001hzi.2_Silent_p.Q774Q|EXO1_uc001hzj.2_Silent_p.Q774Q|EXO1_uc009xgq.2_Silent_p.Q773Q	p.Q774Q	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		15	2862	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	774			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Silent	SNP	ENST00000366548.3	37	c.2322G>A	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	G	7.955	0.745643	0.15710	.	.	ENSG00000174371	ENST00000521202	.	.	.	5.87	2.95	0.34219	.	.	.	.	.	T	0.53546	0.1803	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42916	-0.9423	4	.	.	.	-10.2812	5.3292	0.15922	0.2146:0.0:0.6313:0.154	.	.	.	.	K	139	.	.	E	+	1	0	EXO1	240115349	0.999000	0.42202	0.981000	0.43875	0.766000	0.43426	1.450000	0.35134	0.356000	0.24157	0.563000	0.77884	GAA		0.453	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1		NM_006027		19	53	0	0	0	0.049695	0	19	53		
OR2T6	254879	broad.mit.edu	37	1	248551413	248551413	+	Missense_Mutation	SNP	C	C	G	rs373690193		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr1:248551413C>G	ENST00000355728.2	+	1	504	c.504C>G	c.(502-504)ttC>ttG	p.F168L		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168L(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCTCCCGTTCTGTGCCTCTC	0.532																																						uc001iei.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(502-504)TTC>TTG		olfactory receptor, family 2, subfamily T,							111.0	102.0	105.0					1																	248551413		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551413C>G	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.504C>G	1.37:g.248551413C>G	ENSP00000347965:p.Phe168Leu						p.F168L	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	504	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		168			Extracellular (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.504C>G	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296435	0.81025	.	.	ENSG00000198104	ENST00000355728	T	0.00039	8.85	4.38	4.38	0.52667	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000222	T	0.00412	0.0013	M	0.64260	1.97	0.35096	D	0.76474	D	0.61697	0.99	D	0.64776	0.929	T	0.81141	-0.1068	10	0.87932	D	0	.	17.0694	0.86569	0.0:1.0:0.0:0.0	.	168	Q8NHC8	OR2T6_HUMAN	L	168	ENSP00000347965:F168L	ENSP00000347965:F168L	F	+	3	2	OR2T6	246618036	0.075000	0.21258	0.984000	0.44739	0.948000	0.59901	-0.202000	0.09451	2.423000	0.82170	0.643000	0.83706	TTC		0.532	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1		NM_001005471		13	35	0	0	0	0.09319	0	13	35		
VIM	7431	broad.mit.edu	37	10	17277345	17277345	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:17277345G>C	ENST00000224237.5	+	6	1331	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.E396Q			P08670	VIME_HUMAN	vimentin	396	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E396Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTGACATTGAGATTGCCAC	0.507																																						uc001iou.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1186-1188)GAG>CAG		vimentin							118.0	108.0	111.0					10																	17277345		2203	4300	6503	SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277345G>C	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.1186G>C	10.37:g.17277345G>C	ENSP00000224237:p.Glu396Gln					VIM_uc001iov.1_Missense_Mutation_p.E396Q|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E396Q|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E354Q|VIM_uc001ipc.1_Missense_Mutation_p.E396Q	p.E396Q	NM_003380	NP_003371	P08670	VIME_HUMAN			7	1599	+			396			Rod.|Coil 2.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Missense_Mutation	SNP	ENST00000224237.5	37	c.1186G>C	CCDS7120.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425777	0.96131	.	.	ENSG00000026025	ENST00000544301;ENST00000224237;ENST00000545533	D;D	0.96774	-4.12;-4.12	5.87	5.87	0.94306	Filament (1);	0.288347	0.24215	N	0.040499	D	0.98994	0.9657	H	0.97291	3.975	0.80722	D	1	D;D;D;D	0.76494	0.972;0.999;0.999;0.972	D;D;D;D	0.83275	0.961;0.987;0.996;0.961	D	0.99271	1.0893	10	0.87932	D	0	.	20.2707	0.98476	0.0:0.0:1.0:0.0	.	396;383;396;396	Q53HU8;F5H288;B0YJC4;P08670	.;.;.;VIME_HUMAN	Q	396;396;383	ENSP00000446007:E396Q;ENSP00000224237:E396Q	ENSP00000224237:E396Q	E	+	1	0	VIM	17317351	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.859000	0.99545	2.784000	0.95788	0.638000	0.83543	GAG		0.507	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1		NM_003380		14	56	0	0	0	0.11911	0	14	56		
NEBL	10529	broad.mit.edu	37	10	21117520	21117520	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:21117520G>A	ENST00000377122.4	-	17	2111	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	572					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.S572F(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGCTATGGTAGAATAGTTAGA	0.343																																						uc001iqi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1714-1716)TCT>TTT		nebulette sarcomeric isoform							92.0	88.0	89.0					10																	21117520		2203	4300	6503	SO:0001583	missense	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21117520G>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1715C>T	10.37:g.21117520G>A	ENSP00000366326:p.Ser572Phe					NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	p.S572F	NM_006393	NP_006384	O76041	NEBL_HUMAN			17	2112	-			572			Nebulin 16.		B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	c.1715C>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.447964	0.63178	.	.	ENSG00000078114	ENST00000377122	T	0.05649	3.41	5.84	3.97	0.46021	.	0.417167	0.26746	N	0.022717	T	0.21145	0.0509	M	0.75777	2.31	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	T	0.00311	-1.1827	10	0.45353	T	0.12	.	11.3531	0.49600	0.0688:0.1275:0.8037:0.0	.	572	O76041	NEBL_HUMAN	F	572	ENSP00000366326:S572F	ENSP00000366326:S572F	S	-	2	0	NEBL	21157526	0.909000	0.30893	0.705000	0.30386	0.836000	0.47400	1.281000	0.33214	0.791000	0.33826	0.650000	0.86243	TCT		0.343	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1		NM_006393		12	51	0	0	0	0.080935	0	12	51		
MASTL	84930	broad.mit.edu	37	10	27459817	27459817	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:27459817G>A	ENST00000375940.4	+	8	1986	c.1929G>A	c.(1927-1929)ctG>ctA	p.L643L	MASTL_ENST00000375946.4_Silent_p.L643L|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Silent_p.L643L			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	643	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)	p.L643L(1)		breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGAGGTGCTGAAAACGTTAG	0.398																																						uc001itm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	stomach(1)|ovary(1)|lung(1)	3						c.(1927-1929)CTG>CTA		microtubule associated serine/threonine							76.0	75.0	76.0					10																	27459817		2203	4300	6503	SO:0001819	synonymous_variant	84930				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity	g.chr10:27459817G>A	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.1929G>A	10.37:g.27459817G>A						MASTL_uc001itl.2_Silent_p.L643L|MASTL_uc009xkw.1_Silent_p.L643L|MASTL_uc009xkx.1_RNA	p.L643L	NM_032844	NP_116233	Q96GX5	GWL_HUMAN			8	2568	+			643			Protein kinase.		Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Silent	SNP	ENST00000375940.4	37	c.1929G>A	CCDS53502.1																																																																																				0.398	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1		NM_032844		28	84	0	0	0	0.108266	0	28	84		
ARMC4	55130	broad.mit.edu	37	10	28273125	28273125	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:28273125C>G	ENST00000305242.5	-	5	762	c.670G>C	c.(670-672)Gaa>Caa	p.E224Q	ARMC4_ENST00000537576.1_5'Flank|ARMC4_ENST00000480504.1_5'Flank|ARMC4_ENST00000239715.3_Missense_Mutation_p.E81Q|ARMC4_ENST00000545014.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	224					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.E224Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GAGGTATATTCAATAGATTCC	0.328																																						uc009xky.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)	6						c.(670-672)GAA>CAA		armadillo repeat containing 4							170.0	173.0	172.0					10																	28273125		2202	4300	6502	SO:0001583	missense	55130						binding	g.chr10:28273125C>G	AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.670G>C	10.37:g.28273125C>G	ENSP00000306410:p.Glu224Gln					ARMC4_uc010qds.1_5'Flank|ARMC4_uc010qdt.1_5'Flank|ARMC4_uc001itz.2_Missense_Mutation_p.E224Q|ARMC4_uc010qdu.1_5'Flank	p.E224Q	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN			5	768	-			224					A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	c.670G>C	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.605814	0.28623	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	T;T;T	0.46063	1.44;0.88;0.88	5.37	3.47	0.39725	.	0.416227	0.28338	N	0.015718	T	0.32556	0.0833	L	0.42245	1.32	0.30877	N	0.731803	B	0.14012	0.009	B	0.12837	0.008	T	0.26189	-1.0110	10	0.25751	T	0.34	-4.648	10.0016	0.41931	0.1386:0.7884:0.0:0.0729	.	224	Q5T2S8	ARMC4_HUMAN	Q	224;118;81	ENSP00000306410:E224Q;ENSP00000398155:E118Q;ENSP00000239715:E81Q	ENSP00000239715:E81Q	E	-	1	0	ARMC4	28313131	0.032000	0.19561	0.100000	0.21137	0.915000	0.54546	0.687000	0.25407	0.703000	0.31848	0.655000	0.94253	GAA		0.328	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1		NM_018076		10	164	0	0	0	0.069234	0	10	164		
ANKRD30A	91074	broad.mit.edu	37	10	37478443	37478443	+	Missense_Mutation	SNP	A	A	G	rs199828555	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:37478443A>G	ENST00000602533.1	+	25	2401	c.2302A>G	c.(2302-2304)Acg>Gcg	p.T768A	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T768A|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T887A|ANKRD30A_ENST00000475522.1_3'UTR			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	824					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T768A(2)		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						ACCCAAGGCTACGCATCAAAA	0.289													.|||	43	0.00858626	0.0098	0.0086	5008	,	,		14201	0.005		0.0179	False		,,,				2504	0.001					uc001iza.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|kidney(1)	ovary(7)|breast(1)|skin(1)	9						c.(2302-2304)ACG>GCG		ankyrin repeat domain 30A							13.0	10.0	11.0					10																	37478443		386	1018	1404	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37478443A>G	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.2302A>G	10.37:g.37478443A>G	ENSP00000473551:p.Thr768Ala						p.T768A	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			25	2401	+			824					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2302A>G		.	.	.	.	.	.	.	.	.	.	.	2.496	-0.316242	0.05422	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06068	3.35;3.35	0.746	-1.49	0.08718	.	.	.	.	.	T	0.08447	0.0210	L	0.46157	1.445	0.09310	N	1	P	0.40332	0.713	P	0.48654	0.585	T	0.28235	-1.0050	9	0.31617	T	0.26	.	4.1534	0.10249	0.4946:0.0:0.5054:0.0	.	824	Q9BXX3	AN30A_HUMAN	A	768;887	ENSP00000354432:T768A;ENSP00000363792:T887A	ENSP00000354432:T768A	T	+	1	0	ANKRD30A	37518449	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.108000	0.10857	-0.775000	0.04584	-0.537000	0.04273	ACG		0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2		NM_052997		3	53	0	0	0	0.115264	0	3	53		
ZNF485	220992	broad.mit.edu	37	10	44112076	44112076	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:44112076G>A	ENST00000361807.3	+	5	779	c.585G>A	c.(583-585)ctG>ctA	p.L195L	ZNF485_ENST00000374435.3_Silent_p.L195L|ZNF485_ENST00000374437.2_Silent_p.L104L	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	195					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L195L(1)|p.L156L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						GGAAGTTCCTGAAGAAGCACT	0.393																																						uc010qfc.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(583-585)CTG>CTA		zinc finger protein 485							79.0	79.0	79.0					10																	44112076		2203	4300	6503	SO:0001819	synonymous_variant	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112076G>A	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.585G>A	10.37:g.44112076G>A						ZNF485_uc010qfd.1_Silent_p.L104L	p.L195L	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN			5	779	+			195			C2H2-type 3.		B4DSE6|Q96CL0	Silent	SNP	ENST00000361807.3	37	c.585G>A	CCDS7205.2																																																																																				0.393	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2		NM_145312		31	90	0	0	0	0.144211	0	31	90		
ARID5B	84159	broad.mit.edu	37	10	63852251	63852251	+	Missense_Mutation	SNP	G	G	A	rs137983907		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:63852251G>A	ENST00000279873.7	+	10	3439	c.3029G>A	c.(3028-3030)cGg>cAg	p.R1010Q	ARID5B_ENST00000309334.5_Missense_Mutation_p.R767Q	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1010					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)	p.R1010Q(1)		NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGGGCGGCGCGGCCGATCAAG	0.567																																						uc001jlt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4						c.(3028-3030)CGG>CAG		AT rich interactive domain 5B (MRF1-like)		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	70.0	80.0	76.0		3029	3.8	0.1	10	dbSNP_134	76	0,8600		0,0,4300	no	missense	ARID5B	NM_032199.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1010/1189	63852251	1,13005	2203	4300	6503	SO:0001583	missense	84159				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding	g.chr10:63852251G>A	M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3029G>A	10.37:g.63852251G>A	ENSP00000279873:p.Arg1010Gln						p.R1010Q	NM_032199	NP_115575	Q14865	ARI5B_HUMAN			10	3055	+	Prostate(12;0.016)|all_hematologic(501;0.215)		1010					B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	c.3029G>A	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.805745	0.50421	2.27E-4	0.0	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.60299	0.25;0.2	5.72	3.85	0.44370	.	0.000000	0.85682	D	0.000000	T	0.67748	0.2926	M	0.65975	2.015	0.58432	D	0.999997	D	0.76494	0.999	P	0.57204	0.815	T	0.72626	-0.4236	10	0.87932	D	0	-10.2431	12.6793	0.56912	0.1358:0.0:0.8642:0.0	.	1010	Q14865	ARI5B_HUMAN	Q	1010;767	ENSP00000279873:R1010Q;ENSP00000308862:R767Q	ENSP00000279873:R1010Q	R	+	2	0	ARID5B	63522257	1.000000	0.71417	0.053000	0.19242	0.264000	0.26372	6.813000	0.75231	1.431000	0.47355	-0.136000	0.14681	CGG		0.567	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1		XM_084482		23	77	0	0	0	0.116897	0	23	77		
NDST2	8509	broad.mit.edu	37	10	75568098	75568098	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:75568098G>A	ENST00000309979.6	-	3	605	c.49C>T	c.(49-51)Cac>Tac	p.H17Y	NDST2_ENST00000299641.4_Intron|NDST2_ENST00000398701.2_5'Flank|RP11-574K11.31_ENST00000603027.1_Missense_Mutation_p.H17Y			P52849	NDST2_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2	17					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|hydrolase activity (GO:0016787)	p.H17Y(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					ATGAGGCGGTGCAGTTCCAGC	0.622																																						uc001jvk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(49-51)CAC>TAC		heparan glucosaminyl							23.0	20.0	21.0					10																	75568098		2197	4299	6496	SO:0001583	missense	8509					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr10:75568098G>A	U36601	CCDS7335.1	10q22	2007-03-14			ENSG00000166507	ENSG00000166507		"""Sulfotransferases, membrane-bound"""	7681	protein-coding gene	gene with protein product		603268				9601056	Standard	NM_003635		Approved	NST2, HSST2	uc001jvk.2	P52849	OTTHUMG00000018489	ENST00000309979.6:c.49C>T	10.37:g.75568098G>A	ENSP00000310657:p.His17Tyr					NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Intron|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_5'Flank	p.H17Y	NM_003635	NP_003626	P52849	NDST2_HUMAN			3	853	-	Prostate(51;0.0112)		17			Cytoplasmic (Potential).		Q2TB32|Q59H89	Missense_Mutation	SNP	ENST00000309979.6	37	c.49C>T	CCDS7335.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.687638	0.88639	.	.	ENSG00000166507	ENST00000309979	T	0.36340	1.26	5.38	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	L	0.27053	0.805	0.80722	D	1	P	0.43826	0.818	B	0.40256	0.324	T	0.08806	-1.0704	10	0.66056	D	0.02	.	13.8668	0.63594	0.0737:0.0:0.9263:0.0	.	17	P52849	NDST2_HUMAN	Y	17	ENSP00000310657:H17Y	ENSP00000310657:H17Y	H	-	1	0	NDST2	75238104	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.379000	0.79691	1.270000	0.44297	0.561000	0.74099	CAC		0.622	NDST2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048710.1		NM_003635		3	4	0	0	0	0.115264	0	3	4		
HTR7	3363	broad.mit.edu	37	10	92617282	92617282	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:92617282C>G	ENST00000336152.3	-	1	173	c.147G>C	c.(145-147)ctG>ctC	p.L49L	HTR7_ENST00000371719.2_Silent_p.L49L|HTR7_ENST00000371721.3_Silent_p.L49L|HTR7_ENST00000277874.6_Silent_p.L49L	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	49					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.L49L(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCACCTCGCTCAGCAGGTGCG	0.701																																						uc001kha.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)	1						c.(145-147)CTG>CTC		5-hydroxytryptamine receptor 7 isoform d	Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)						13.0	12.0	12.0					10																	92617282		2184	4281	6465	SO:0001819	synonymous_variant	3363				blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr10:92617282C>G	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.147G>C	10.37:g.92617282C>G						HTR7_uc001kgz.2_Silent_p.L49L|HTR7_uc001khb.2_Silent_p.L49L	p.L49L	NM_019859	NP_062873	P34969	5HT7R_HUMAN			1	390	-			49			Extracellular (By similarity).		B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Silent	SNP	ENST00000336152.3	37	c.147G>C	CCDS7408.1																																																																																				0.701	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1		NM_000872		6	11	0	0	0	0.021553	0	6	11		
CFAP58	159686	broad.mit.edu	37	10	106209909	106209909	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:106209909C>G	ENST00000369704.3	+	17	2591	c.2457C>G	c.(2455-2457)ctC>ctG	p.L819L		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		819						extracellular space (GO:0005615)		p.L819L(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CCAATGAGCTCCAGAATTTAA	0.328																																						uc001kyh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|central_nervous_system(2)|skin(1)	5						c.(2455-2457)CTC>CTG		coiled-coil domain containing 147							78.0	81.0	80.0					10																	106209909		2203	4300	6503	SO:0001819	synonymous_variant	159686							g.chr10:106209909C>G																												ENST00000369704.3:c.2457C>G	10.37:g.106209909C>G							p.L819L	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	17	2591	+		Colorectal(252;0.103)|Breast(234;0.122)	819			Potential.		D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	c.2457C>G	CCDS31282.1																																																																																				0.328	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1				53	127	0	0	0	0.139131	0	53	127		
ATE1	11101	broad.mit.edu	37	10	123673374	123673374	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr10:123673374G>C	ENST00000224652.6	-	4	353	c.268C>G	c.(268-270)Cac>Gac	p.H90D	ATE1_ENST00000540606.1_Missense_Mutation_p.H83D|ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000369043.3_Missense_Mutation_p.H90D|ATE1_ENST00000543447.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	90					protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)	p.H90D(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				ACCTTCTTGTGAGATTTTGAA	0.363																																						uc001lfp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(268-270)CAC>GAC		arginyltransferase 1 isoform 2							71.0	68.0	69.0					10																	123673374		2203	4300	6503	SO:0001583	missense	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123673374G>C	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.268C>G	10.37:g.123673374G>C	ENSP00000224652:p.His90Asp					ATE1_uc001lfq.2_Missense_Mutation_p.H90D|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_5'UTR|ATE1_uc010qtt.1_Missense_Mutation_p.H83D|ATE1_uc001lfr.2_5'UTR|ATE1_uc009xzu.2_Intron	p.H90D	NM_007041	NP_008972	O95260	ATE1_HUMAN			4	350	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	90					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.268C>G	CCDS31300.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.193461|4.193461	0.78902|0.78902	.|.	.|.	ENSG00000107669|ENSG00000107669	ENST00000369043;ENST00000224652;ENST00000540606;ENST00000455628|ENST00000423243	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Arginine-tRNA-protein transferase, N-terminal (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|.	0.84329|.	0.5448|.	M|M	0.88181|0.88181	2.935|2.935	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.97;1.0;0.996|.	D;D;D|.	0.97110|.	0.939;1.0;0.917|.	D|.	0.86776|.	0.1976|.	9|.	0.62326|0.87932	D|D	0.03|0	-15.4659|-15.4659	17.7972|17.7972	0.88577|0.88577	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	83;90;90|.	F5GXE4;O95260;O95260-2|.	.;ATE1_HUMAN;.|.	D|X	90;90;83;83|86	.|.	ENSP00000224652:H90D|ENSP00000397787:S86X	H|S	-|-	1|2	0|0	ATE1|ATE1	123663364|123663364	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.718000|6.718000	0.74713|0.74713	2.804000|2.804000	0.96469|0.96469	0.655000|0.655000	0.94253|0.94253	CAC|TCA		0.363	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_001001976		21	46	0	0	0	0.049695	0	21	46		
NAV2	89797	broad.mit.edu	37	11	19955347	19955347	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:19955347G>A	ENST00000396087.3	+	8	1725	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	NAV2_ENST00000349880.4_Silent_p.E519E|NAV2_ENST00000527559.2_Silent_p.E471E|NAV2_ENST00000540292.1_Silent_p.E473E|NAV2_ENST00000360655.4_Silent_p.E455E|NAV2_ENST00000396085.1_Silent_p.E519E	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	542					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.E542E(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCAAGGAGGAGCCAAAAGAAG	0.537																																						uc010rdm.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(1624-1626)GAG>GAA		neuron navigator 2 isoform 2							95.0	109.0	104.0					11																	19955347		2199	4293	6492	SO:0001819	synonymous_variant	89797					nucleus	ATP binding|helicase activity	g.chr11:19955347G>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.1626G>A	11.37:g.19955347G>A						NAV2_uc001mpp.2_Silent_p.E455E|NAV2_uc001mpr.3_Silent_p.E519E	p.E542E	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN			8	1987	+			542					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	ENST00000396087.3	37	c.1626G>A	CCDS58126.1																																																																																				0.537	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117		23	32	0	0	0	0.076483	0	23	32		
OR5W2	390148	broad.mit.edu	37	11	55681643	55681643	+	Missense_Mutation	SNP	C	C	G	rs12786096	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:55681643C>G	ENST00000344514.1	-	1	415	c.416G>C	c.(415-417)aGa>aCa	p.R139T		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R139T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATAGCACACTCTGCTAGACAT	0.468																																					Melanoma(48;171 1190 15239 43886 49348)	uc010rir.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(415-417)AGA>ACA		olfactory receptor, family 5, subfamily W,							67.0	62.0	64.0					11																	55681643		2201	4296	6497	SO:0001583	missense	390148				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55681643C>G	BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.416G>C	11.37:g.55681643C>G	ENSP00000342448:p.Arg139Thr						p.R139T	NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN			1	416	-			139			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000344514.1	37	c.416G>C	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	5.222	0.226502	0.09916	.	.	ENSG00000187612	ENST00000344514	T	0.41400	1.0	5.01	-3.24	0.05094	GPCR, rhodopsin-like superfamily (1);	0.787975	0.10308	N	0.690283	T	0.37183	0.0994	M	0.72479	2.2	0.09310	N	1	B	0.13145	0.007	B	0.24974	0.057	T	0.42344	-0.9457	10	0.42905	T	0.14	.	5.0855	0.14680	0.0:0.3264:0.2617:0.4119	.	139	Q8NH69	OR5W2_HUMAN	T	139	ENSP00000342448:R139T	ENSP00000342448:R139T	R	-	2	0	OR5W2	55438219	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-6.494000	0.00064	-0.726000	0.04895	-0.326000	0.08463	AGA		0.468	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1		NM_001001960		20	46	0	0	0	0.043863	0	20	46		
OR4D10	390197	broad.mit.edu	37	11	59245789	59245789	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:59245789C>G	ENST00000530162.1	+	1	944	c.887C>G	c.(886-888)tCa>tGa	p.S296*		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S294*(1)|p.S296*(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGATGAAGTCAGCCATGAGG	0.428																																						uc001nnz.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(2)|skin(1)	3						c.(886-888)TCA>TGA		olfactory receptor, family 4, subfamily D,							65.0	62.0	63.0					11																	59245789		2201	4295	6496	SO:0001587	stop_gained	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245789C>G	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.887C>G	11.37:g.59245789C>G	ENSP00000436424:p.Ser296*						p.S296*	NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN			1	887	+			296			Cytoplasmic (Potential).		B2RNH6	Nonsense_Mutation	SNP	ENST00000530162.1	37	c.887C>G	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695649	0.30052	.	.	ENSG00000254466	ENST00000530162	.	.	.	4.7	3.79	0.43588	.	.	.	.	.	.	.	.	.	.	.	0.35575	D	0.805795	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.078	0.30729	0.1567:0.7564:0.0:0.0868	.	.	.	.	X	296	.	ENSP00000436424:S296X	S	+	2	0	OR4D10	59002365	0.000000	0.05858	0.998000	0.56505	0.019000	0.09904	-0.456000	0.06754	1.091000	0.41335	-0.157000	0.13467	TCA		0.428	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1		NM_001004705		9	31	0	0	0	0.047766	0	9	31		
PPP1R32	220004	broad.mit.edu	37	11	61254053	61254053	+	Nonsense_Mutation	SNP	C	C	T	rs553113019		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:61254053C>T	ENST00000338608.2	+	9	930	c.805C>T	c.(805-807)Cga>Tga	p.R269*	PPP1R32_ENST00000538185.1_5'Flank|PPP1R32_ENST00000432063.2_Nonsense_Mutation_p.R249*|PPP1R32_ENST00000366212.4_5'Flank	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	269							phosphatase binding (GO:0019902)	p.R269*(1)									AGCCTTCAGCCGAGGGAATGA	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		20697	0.0		0.0	False		,,,				2504	0.001					uc001nru.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)	1						c.(805-807)CGA>TGA		IIIG9 protein							52.0	50.0	51.0					11																	61254053		2202	4299	6501	SO:0001587	stop_gained	220004							g.chr11:61254053C>T	AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.805C>T	11.37:g.61254053C>T	ENSP00000344140:p.Arg269*					C11orf66_uc009ynq.1_Nonsense_Mutation_p.R249*	p.R269*	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN			9	930	+			269					Q4G0P4|Q96M77	Nonsense_Mutation	SNP	ENST00000338608.2	37	c.805C>T	CCDS8008.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910624	0.33721	.	.	ENSG00000162148	ENST00000432063;ENST00000338608;ENST00000535545	.	.	.	4.08	2.15	0.27550	.	0.140255	0.31358	N	0.007783	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.5077	10.106	0.42533	0.3638:0.6362:0.0:0.0	.	.	.	.	X	249;269;36	.	ENSP00000344140:R269X	R	+	1	2	C11orf66	61010629	1.000000	0.71417	0.990000	0.47175	0.181000	0.23173	1.516000	0.35856	0.360000	0.24265	-0.175000	0.13238	CGA		0.577	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398621.1		NM_145017		4	14	0	0	0	0.014758	0	4	14		
POLA2	23649	broad.mit.edu	37	11	65034149	65034149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:65034149C>T	ENST00000265465.3	+	2	707	c.176C>T	c.(175-177)tCa>tTa	p.S59L	POLA2_ENST00000541089.1_Intron	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	59					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein import into nucleus, translocation (GO:0000060)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|protein heterodimerization activity (GO:0046982)	p.S59L(2)		endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	GGCCTTACCTCAGAGATCCTG	0.433																																						uc001odj.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(175-177)TCA>TTA		DNA-directed DNA polymerase alpha 2	Dacarbazine(DB00851)						119.0	100.0	107.0					11																	65034149		2201	4297	6498	SO:0001583	missense	23649				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding	g.chr11:65034149C>T	BC002990	CCDS8098.1	11q13	2012-05-18	2012-05-18		ENSG00000014138	ENSG00000014138		"""DNA polymerases"""	30073	protein-coding gene	gene with protein product	"""DNA polymerase alpha subunit B"", ""DNA polymerase alpha 70 kDa subunit"""		"""polymerase (DNA directed), alpha 2 (70kD subunit)"""			8223465, 11433027	Standard	NM_002689		Approved	FLJ21662	uc001odj.3	Q14181	OTTHUMG00000165951	ENST00000265465.3:c.176C>T	11.37:g.65034149C>T	ENSP00000265465:p.Ser59Leu					POLA2_uc009yqf.1_Missense_Mutation_p.S59L|POLA2_uc010rod.1_Intron	p.S59L	NM_002689	NP_002680	Q14181	DPOA2_HUMAN			2	518	+			59					B4DNB4|Q9BPV3	Missense_Mutation	SNP	ENST00000265465.3	37	c.176C>T	CCDS8098.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.613519	0.28712	.	.	ENSG00000014138	ENST00000265465;ENST00000532391	T	0.20332	2.08	5.24	0.653	0.17828	DNA polymerase alpha, subunit B N-terminal (1);	1.420960	0.04426	N	0.368417	T	0.07098	0.0180	N	0.03050	-0.425	0.09310	N	0.999999	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.29671	-1.0004	10	0.02654	T	1	0.6988	3.3468	0.07139	0.0:0.4183:0.2039:0.3778	.	19;59	E9PIQ6;Q14181	.;DPOA2_HUMAN	L	59;19	ENSP00000265465:S59L	ENSP00000265465:S59L	S	+	2	0	POLA2	64790725	0.001000	0.12720	0.000000	0.03702	0.950000	0.60333	0.358000	0.20216	0.212000	0.20703	0.563000	0.77884	TCA		0.433	POLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387223.1		NM_002689		18	25	0	0	0	0.038395	0	18	25		
FGF3	2248	broad.mit.edu	37	11	69625371	69625371	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:69625371G>C	ENST00000334134.2	-	3	512	c.422C>G	c.(421-423)cCt>cGt	p.P141R		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	141					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)	p.P141R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GCGGGCCCCAGGCGTACTAGA	0.657																																						uc001oph.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|lung(1)	2						c.(421-423)CCT>CGT		fibroblast growth factor 3 precursor							26.0	33.0	31.0					11																	69625371		2198	4289	6487	SO:0001583	missense	2248				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	g.chr11:69625371G>C		CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.422C>G	11.37:g.69625371G>C	ENSP00000334122:p.Pro141Arg						p.P141R	NM_005247	NP_005238	P11487	FGF3_HUMAN	LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		3	913	-			141					Q0VG69	Missense_Mutation	SNP	ENST00000334134.2	37	c.422C>G	CCDS8195.1	.	.	.	.	.	.	.	.	.	.	G	2.556	-0.303021	0.05495	.	.	ENSG00000186895	ENST00000334134	T	0.62232	0.04	3.92	1.81	0.25067	.	1.249010	0.06111	N	0.667128	T	0.41442	0.1159	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.24584	-1.0156	9	.	.	.	.	9.185	0.37165	0.0:0.1683:0.6723:0.1594	.	141	P11487	FGF3_HUMAN	R	141	ENSP00000334122:P141R	.	P	-	2	0	FGF3	69334552	0.004000	0.15560	0.003000	0.11579	0.002000	0.02628	1.384000	0.34396	0.605000	0.29947	0.462000	0.41574	CCT		0.657	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396835.1		NM_005247		14	9	0	0	0	0.105934	0	14	9		
SHANK2	22941	broad.mit.edu	37	11	70507825	70507825	+	Intron	SNP	C	C	T	rs574470596		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:70507825C>T	ENST00000423696.2	-	6	753				SHANK2_ENST00000409530.1_Silent_p.T15T|SHANK2_ENST00000449833.2_Silent_p.T16T|SHANK2_ENST00000409161.1_Silent_p.T15T|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000449116.2_Silent_p.T16T|SHANK2_ENST00000357171.3_Silent_p.T16T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2						adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)	p.T16T(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TATTGTAGCCCGTCATCATCA	0.542													c|||	1	0.000199681	0.0	0.0	5008	,	,		16283	0.0		0.0	False		,,,				2504	0.001					uc010rqn.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(46-48)ACG>ACA		SH3 and multiple ankyrin repeat domains 2							132.0	134.0	133.0					11																	70507825		2200	4294	6494	SO:0001627	intron_variant	22941				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	g.chr11:70507825C>T	AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.717-42G>A	11.37:g.70507825C>T						SHANK2_uc001opz.2_Silent_p.T16T|SHANK2_uc001oqc.2_Intron|uc009ysn.1_Missense_Mutation_p.P88L|SHANK2_uc010rqp.1_Silent_p.T16T	p.T16T	NM_133266	NP_573573	Q9UPX8	SHAN2_HUMAN	LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)		1	99	-			Error:Variant_position_missing_in_Q9UPX8_after_alignment					C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Silent	SNP	ENST00000423696.2	37	c.48G>A		.	.	.	.	.	.	.	.	.	.	.	10.84	1.464681	0.26335	.	.	ENSG00000162105	ENST00000412252	.	.	.	4.56	0.477	0.16784	.	.	.	.	.	T	0.51058	0.1652	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34403	-0.9830	4	.	.	.	.	5.2057	0.15289	0.0:0.5438:0.1432:0.313	.	.	.	.	R	15	.	.	G	-	1	0	SHANK2	70185473	0.998000	0.40836	0.979000	0.43373	0.944000	0.59088	0.620000	0.24403	-0.189000	0.10482	-0.333000	0.08304	GGG		0.542	SHANK2-203	KNOWN	basic	protein_coding	protein_coding			NM_012309		28	96	0	0	0	0.134883	0	28	96		
CLPB	81570	broad.mit.edu	37	11	72145375	72145375	+	Silent	SNP	C	C	G	rs557250186		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr11:72145375C>G	ENST00000294053.3	-	1	317	c.144G>C	c.(142-144)ctG>ctC	p.L48L	CLPB_ENST00000543042.1_5'UTR|CLPB_ENST00000538039.1_Silent_p.L48L|CLPB_ENST00000542555.1_5'Flank|CLPB_ENST00000445069.2_Intron|CLPB_ENST00000437826.2_5'UTR|CLPB_ENST00000340729.5_Silent_p.L48L	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	48					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.L48L(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGGCTACCCTCAGCCACTGCG	0.692											OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001osj.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	pancreas(1)	1						c.(142-144)CTG>CTC		caseinolytic peptidase B							24.0	30.0	28.0					11																	72145375		2199	4292	6491	SO:0001819	synonymous_variant	81570				cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr11:72145375C>G	BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.144G>C	11.37:g.72145375C>G			OREG0021194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1135	CLPB_uc010rqx.1_5'UTR|CLPB_uc010rqy.1_Silent_p.L48L|CLPB_uc001osk.2_Silent_p.L48L|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_5'UTR	p.L48L	NM_030813	NP_110440	Q9H078	CLPB_HUMAN			1	194	-			48					B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Silent	SNP	ENST00000294053.3	37	c.144G>C	CCDS8215.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286237	0.59867	.	.	ENSG00000162129	ENST00000535990	T	0.20881	2.04	5.04	3.02	0.34903	.	.	.	.	.	T	0.29028	0.0721	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.03922	-1.0992	6	0.66056	D	0.02	-0.0398	6.5221	0.22281	0.0:0.7177:0.183:0.0993	.	.	.	.	Q	18	ENSP00000443822:E18Q	ENSP00000443822:E18Q	E	-	1	0	CLPB	71823023	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.358000	0.20216	1.249000	0.43950	0.655000	0.94253	GAG		0.692	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1		NM_030813		13	9	0	0	0	0.132662	0	13	9		
RAD52	5893	broad.mit.edu	37	12	1025522	1025522	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:1025522C>G	ENST00000358495.3	-	9	991	c.853G>C	c.(853-855)Gag>Cag	p.E285Q	RAD52_ENST00000539046.1_Missense_Mutation_p.E208Q|RAD52_ENST00000430095.2_Missense_Mutation_p.E285Q|RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000536177.1_Nonstop_Mutation_p.*302S	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	285					DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)	p.E285Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			TCACTCTTCTCAGCTGACGGC	0.647								Homologous recombination																														uc001qis.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(853-855)GAG>CAG	Homologous_recombination	RAD52 homolog							24.0	29.0	27.0					12																	1025522		2153	4272	6425	SO:0001583	missense	5893				DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	g.chr12:1025522C>G		CCDS8507.2	12p13-p12.2	2008-08-05	2001-11-28		ENSG00000002016	ENSG00000002016			9824	protein-coding gene	gene with protein product		600392	"""RAD52 (S. cerevisiae) homolog"""			7774919, 18313388	Standard	XM_005253721		Approved		uc001qis.1	P43351	OTTHUMG00000090361	ENST00000358495.3:c.853G>C	12.37:g.1025522C>G	ENSP00000351284:p.Glu285Gln					RAD52_uc001qit.1_RNA|RAD52_uc010sdt.1_Missense_Mutation_p.E208Q|RAD52_uc001qiu.1_Missense_Mutation_p.E285Q|RAD52_uc001qiv.1_RNA|RAD52_uc001qiw.1_RNA|RAD52_uc010sdu.1_Nonstop_Mutation_p.*302S	p.E285Q	NM_134424	NP_602296	P43351	RAD52_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)		9	967	-	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		285					Q13205|Q9Y5T7|Q9Y5T8|Q9Y5T9	Missense_Mutation	SNP	ENST00000358495.3	37	c.853G>C	CCDS8507.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.433|9.433	1.085934|1.085934	0.20390|0.20390	.|.	.|.	ENSG00000002016|ENSG00000002016	ENST00000358495;ENST00000430095;ENST00000539046|ENST00000536177	T;T;T|.	0.31247|.	1.91;1.91;1.5|.	4.32|4.32	0.371|0.371	0.16168|0.16168	.|.	1.735120|.	0.02769|.	N|.	0.119457|.	T|.	0.42268|.	0.1195|.	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	B|.	0.23490|.	0.086|.	B|.	0.19148|.	0.024|.	T|.	0.39461|.	-0.9613|.	10|.	0.19147|.	T|.	0.46|.	-17.3755|-17.3755	2.3537|2.3537	0.04290|0.04290	0.1551:0.5209:0.1504:0.1737|0.1551:0.5209:0.1504:0.1737	.|.	285|.	P43351|.	RAD52_HUMAN|.	Q|S	285;285;208|302	ENSP00000351284:E285Q;ENSP00000387901:E285Q;ENSP00000445245:E208Q|.	ENSP00000351284:E285Q|.	E|X	-|-	1|2	0|2	RAD52|RAD52	895783|895783	0.002000|0.002000	0.14202|0.14202	0.000000|0.000000	0.03702|0.03702	0.354000|0.354000	0.29330|0.29330	1.403000|1.403000	0.34612|0.34612	0.068000|0.068000	0.16574|0.16574	0.561000|0.561000	0.74099|0.74099	GAG|TGA		0.647	RAD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206733.2		NM_134424		4	10	0	0	0	0.009096	0	4	10		
ASUN	55726	broad.mit.edu	37	12	27067369	27067369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:27067369G>T	ENST00000261191.7	-	12	1927	c.1391C>A	c.(1390-1392)tCa>tAa	p.S464*	ASUN_ENST00000539625.1_Nonsense_Mutation_p.S363*	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	464					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S464*(1)									GGTGGTTTGTGAAATGATCAT	0.343																																						uc001rhk.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1390-1392)TCA>TAA		hypothetical protein LOC55726							141.0	144.0	143.0					12																	27067369		2203	4300	6503	SO:0001587	stop_gained	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27067369G>T	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.1391C>A	12.37:g.27067369G>T	ENSP00000261191:p.Ser464*					C12orf11_uc001rhj.3_Intron|C12orf11_uc010sjk.1_Nonsense_Mutation_p.S363*	p.S464*	NM_018164	NP_060634	Q9NVM9	M89BB_HUMAN			12	1928	-	Colorectal(261;0.0847)		464					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Nonsense_Mutation	SNP	ENST00000261191.7	37	c.1391C>A	CCDS8708.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	27.7|27.7|27.7	4.852098|4.852098|4.852098	0.91355|0.91355|0.91355	.|.|.	.|.|.	ENSG00000064102|ENSG00000064102|ENSG00000064102	ENST00000542392|ENST00000536232|ENST00000261191;ENST00000539625	.|.|.	.|.|.	.|.|.	5.22|5.22|5.22	5.22|5.22|5.22	0.72569|0.72569|0.72569	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|.	0.47040|0.47040|.	0.1424|0.1424|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.38200|0.38200|.	-0.9672|-0.9672|.	3|3|.	.|.|0.02654	.|.|T	.|.|1	-12.7044|-12.7044|-12.7044	19.1468|19.1468|19.1468	0.93472|0.93472|0.93472	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	L|N|X	177|117|464;363	.|.|.	.|.|ENSP00000261191:S464X	F|H|S	-|-|-	3|1|2	2|0|0	C12orf11|C12orf11|C12orf11	26958636|26958636|26958636	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	9.802000|9.802000|9.802000	0.99131|0.99131|0.99131	2.582000|2.582000|2.582000	0.87167|0.87167|0.87167	0.478000|0.478000|0.478000	0.44815|0.44815|0.44815	TTC|CAC|TCA		0.343	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1		NM_018164		27	101	1	0	1.75199e-13	0.125774	1.95485e-13	27	101		
ARNTL2	56938	broad.mit.edu	37	12	27573406	27573406	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:27573406G>T	ENST00000266503.5	+	17	1870	c.1852G>T	c.(1852-1854)Gaa>Taa	p.E618*	ARNTL2_ENST00000395901.2_Nonsense_Mutation_p.E581*|ARNTL2_ENST00000311001.5_Nonsense_Mutation_p.E604*|ARNTL2_ENST00000542388.1_Nonsense_Mutation_p.E533*|ARNTL2_ENST00000546179.1_3'UTR|ARNTL2_ENST00000261178.5_Nonsense_Mutation_p.E570*|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000544915.1_Nonsense_Mutation_p.E584*			Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	618					circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	E-box binding (GO:0070888)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.E618*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GAATTACTTAGAAGCAGAGGG	0.448																																						uc001rht.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(1852-1854)GAA>TAA		aryl hydrocarbon receptor nuclear							85.0	88.0	87.0					12																	27573406		2203	4300	6503	SO:0001587	stop_gained	56938				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:27573406G>T	AF246961	CCDS8712.1, CCDS58219.1, CCDS58220.1, CCDS58221.1, CCDS58222.1	12p12.2-p11.2	2013-05-21			ENSG00000029153	ENSG00000029153		"""Basic helix-loop-helix proteins"""	18984	protein-coding gene	gene with protein product		614517				10864977, 10964693	Standard	NM_020183		Approved	BMAL2, MOP9, CLIF, PASD9, bHLHe6	uc001rht.2	Q8WYA1	OTTHUMG00000169257	ENST00000266503.5:c.1852G>T	12.37:g.27573406G>T	ENSP00000266503:p.Glu618*					ARNTL2_uc001rhw.2_Nonsense_Mutation_p.E581*|ARNTL2_uc010sjp.1_3'UTR|ARNTL2_uc001rhu.1_Nonsense_Mutation_p.E604*|ARNTL2_uc009zji.1_Nonsense_Mutation_p.E584*|ARNTL2_uc001rhv.1_Nonsense_Mutation_p.E570*|uc001rhx.2_Intron	p.E618*	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN			17	1870	+	Colorectal(261;0.0847)|Lung SC(9;0.184)		618					B7Z429|F5H402|Q8WYA2|Q8WYA3|Q8WYA4|Q96J63|Q9H2M4|Q9NS70|Q9NYQ4|Q9NYQ5	Nonsense_Mutation	SNP	ENST00000266503.5	37	c.1852G>T	CCDS8712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	27.7|27.7	4.858543|4.858543	0.91433|0.91433	.|.	.|.	ENSG00000029153|ENSG00000029153	ENST00000544915;ENST00000395901;ENST00000311001;ENST00000261178;ENST00000266503;ENST00000542388|ENST00000457040	.|.	.|.	.|.	3.63|3.63	3.63|3.63	0.41609|0.41609	.|.	0.066874|.	0.64402|.	D|.	0.000017|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|.	D|.	0|.	.|.	14.038|14.038	0.64658|0.64658	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|Y	584;581;604;570;618;533|569	.|.	ENSP00000261178:E570X|.	E|X	+|+	1|3	0|2	ARNTL2|ARNTL2	27464673|27464673	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	5.408000|5.408000	0.66368|0.66368	2.026000|2.026000	0.59711|0.59711	0.563000|0.563000	0.77884|0.77884	GAA|TAG		0.448	ARNTL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000403162.1		NM_020183		19	130	1	0	1.67942e-08	0.038395	1.86082e-08	19	130		
IPO8	10526	broad.mit.edu	37	12	30833508	30833508	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:30833508G>A	ENST00000256079.4	-	5	885	c.547C>T	c.(547-549)Cag>Tag	p.Q183*		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	183					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.Q183*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					ATTTGTTGCTGAATACGAGGC	0.343																																						uc001rjd.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	skin(2)|central_nervous_system(1)	3						c.(547-549)CAG>TAG		importin 8							140.0	144.0	143.0					12																	30833508		2203	4300	6503	SO:0001587	stop_gained	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30833508G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.547C>T	12.37:g.30833508G>A	ENSP00000256079:p.Gln183*						p.Q183*	NM_006390	NP_006381	O15397	IPO8_HUMAN			5	717	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		183					B7Z7M3	Nonsense_Mutation	SNP	ENST00000256079.4	37	c.547C>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552902	0.86127	.	.	ENSG00000133704	ENST00000256079;ENST00000535989	.	.	.	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-13.8395	18.0646	0.89387	0.0:0.0:1.0:0.0	.	.	.	.	X	183;121	.	ENSP00000256079:Q183X	Q	-	1	0	IPO8	30724775	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.155000	0.58131	2.563000	0.86464	0.585000	0.79938	CAG		0.343	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2		NM_006390		71	140	0	0	0	0.139131	0	71	140		
KIAA1551	55196	broad.mit.edu	37	12	32137616	32137616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:32137616G>A	ENST00000312561.4	+	4	4141	c.3727G>A	c.(3727-3729)Gat>Aat	p.D1243N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1243								p.D1243N(1)									GACTCCTCCAGATGGGAAAAG	0.368																																						uc001rks.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(3727-3729)GAT>AAT		hypothetical protein LOC55196							58.0	59.0	59.0					12																	32137616		2203	4299	6502	SO:0001583	missense	55196							g.chr12:32137616G>A	AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.3727G>A	12.37:g.32137616G>A	ENSP00000310338:p.Asp1243Asn					C12orf35_uc001rkt.2_5'Flank	p.D1243N	NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0114)		4	4141	+	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		1243					B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	ENST00000312561.4	37	c.3727G>A	CCDS8725.2	.	.	.	.	.	.	.	.	.	.	G	12.97	2.095988	0.36952	.	.	ENSG00000174718	ENST00000312561	T	0.12147	2.71	5.12	-0.269	0.12930	.	1.901330	0.02266	N	0.068023	T	0.13500	0.0327	L	0.29908	0.895	0.09310	N	1	P	0.38020	0.615	B	0.42882	0.401	T	0.15838	-1.0423	9	.	.	.	.	4.9873	0.14196	0.3573:0.2631:0.3796:0.0	.	1243	Q9HCM1	CL035_HUMAN	N	1243	ENSP00000310338:D1243N	.	D	+	1	0	C12orf35	32028883	0.000000	0.05858	0.000000	0.03702	0.190000	0.23558	0.488000	0.22371	-0.373000	0.07979	0.563000	0.77884	GAT		0.368	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250307.2		NM_018169		25	57	0	0	0	0.083992	0	25	57		
DDX23	9416	broad.mit.edu	37	12	49230568	49230568	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:49230568G>A	ENST00000308025.3	-	10	1099	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	DDX23_ENST00000553182.1_5'Flank	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	340					ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.L340L(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GAAGTTTGCGGAGTCTTGCCC	0.537																																						uc001rsm.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	kidney(3)|ovary(1)|lung(1)|skin(1)	6						c.(1018-1020)CTC>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							183.0	185.0	185.0					12																	49230568		2203	4300	6503	SO:0001819	synonymous_variant	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49230568G>A	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1020C>T	12.37:g.49230568G>A							p.L340L	NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN			10	1111	-			340					B2R600|B4DH15|O43188	Silent	SNP	ENST00000308025.3	37	c.1020C>T	CCDS8770.1																																																																																				0.537	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2		NM_004818		110	285	0	0	0	0.139131	0	110	285		
TROAP	10024	broad.mit.edu	37	12	49722719	49722719	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:49722719G>A	ENST00000257909.3	+	9	977	c.901G>A	c.(901-903)Gac>Aac	p.D301N	TROAP_ENST00000547923.1_Missense_Mutation_p.D9N|TROAP_ENST00000551245.1_Missense_Mutation_p.D301N	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	301					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)		p.D301N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GGACAGCCATGACTCCCACCT	0.572																																						uc001rtx.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(901-903)GAC>AAC		tastin isoform 1							72.0	71.0	71.0					12																	49722719		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49722719G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.901G>A	12.37:g.49722719G>A	ENSP00000257909:p.Asp301Asn					TROAP_uc009zlh.2_Missense_Mutation_p.D301N|TROAP_uc001rty.2_Missense_Mutation_p.D9N	p.D301N	NM_005480	NP_005471	Q12815	TROAP_HUMAN			9	1068	+			301					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.901G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633361	0.67015	.	.	ENSG00000135451	ENST00000551245;ENST00000257909;ENST00000547923	.	.	.	4.65	2.74	0.32292	.	0.658008	0.14031	N	0.346158	T	0.23054	0.0557	L	0.34521	1.04	0.09310	N	1	P;P;P	0.36535	0.557;0.557;0.557	B;B;B	0.33620	0.167;0.167;0.117	T	0.08351	-1.0726	9	0.29301	T	0.29	-0.9163	6.715	0.23298	0.1002:0.1796:0.7203:0.0	.	301;9;301	F8W130;F8W1U0;Q12815	.;.;TROAP_HUMAN	N	301;301;9	.	ENSP00000257909:D301N	D	+	1	0	TROAP	48008986	0.003000	0.15002	0.218000	0.23776	0.449000	0.32228	1.236000	0.32683	1.166000	0.42689	0.462000	0.41574	GAC		0.572	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1		NM_005480		20	49	0	0	0	0.049695	0	20	49		
GALNT6	11226	broad.mit.edu	37	12	51759233	51759233	+	Silent	SNP	G	G	A	rs550420161	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:51759233G>A	ENST00000543196.2	-	4	1000	c.795C>T	c.(793-795)ctC>ctT	p.L265L	GALNT6_ENST00000356317.3_Silent_p.L265L			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	265	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L265L(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCAGGAACGTGAGCACCTCCG	0.677																																						uc001ryk.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)	2						c.(793-795)CTC>CTT		polypeptide N-acetylgalactosaminyltransferase 6							53.0	50.0	51.0					12																	51759233		2203	4300	6503	SO:0001819	synonymous_variant	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51759233G>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.795C>T	12.37:g.51759233G>A						GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Silent_p.L265L	p.L265L	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			4	1020	-			265			Catalytic subdomain A.|Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Silent	SNP	ENST00000543196.2	37	c.795C>T	CCDS8813.1																																																																																				0.677	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1		NM_007210		13	29	0	0	0	0.105934	0	13	29		
LRP1	4035	broad.mit.edu	37	12	57595667	57595667	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:57595667G>C	ENST00000243077.3	+	67	11039	c.10573G>C	c.(10573-10575)Gat>Cat	p.D3525H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3525	LDL-receptor class A 25. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D3525Y(1)|p.D3525H(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGATGGCTCGGATGAGCCCAA	0.632																																						uc001snd.2		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|endometrium(1)	ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(10573-10575)GAT>CAT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						112.0	106.0	108.0					12																	57595667		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57595667G>C	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.10573G>C	12.37:g.57595667G>C	ENSP00000243077:p.Asp3525His						p.D3525H	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	67	11039	+			3525			Extracellular (Potential).|LDL-receptor class A 25.		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.10573G>C	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773615	0.90108	.	.	ENSG00000123384	ENST00000243077;ENST00000555124	D;D	0.99150	-5.49;-5.49	4.87	4.87	0.63330	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.99566	0.9844	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.97823	1.0258	10	0.72032	D	0.01	.	17.0098	0.86403	0.0:0.0:1.0:0.0	.	3525	Q07954	LRP1_HUMAN	H	3525;92	ENSP00000243077:D3525H;ENSP00000451012:D92H	ENSP00000243077:D3525H	D	+	1	0	LRP1	55881934	1.000000	0.71417	0.903000	0.35520	0.980000	0.70556	9.478000	0.97927	2.535000	0.85469	0.603000	0.83216	GAT		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		14	49	0	0	0	0.11911	0	14	49		
TBC1D15	64786	broad.mit.edu	37	12	72291701	72291701	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:72291701G>A	ENST00000550746.1	+	11	1278	c.1214G>A	c.(1213-1215)aGa>aAa	p.R405K	TBC1D15_ENST00000319106.8_Missense_Mutation_p.R396K|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R388K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R159K|TBC1D15_ENST00000548679.1_3'UTR	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	405	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	Rab GTPase activator activity (GO:0005097)	p.R396K(1)|p.R405K(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCGAGGTTAAGAGATTATAGA	0.333																																						uc001swu.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1279-1281)AGA>AAA		TBC1 domain family, member 15 isoform 1							75.0	78.0	77.0					12																	72291701		2203	4296	6499	SO:0001583	missense	64786						protein binding|Rab GTPase activator activity	g.chr12:72291701G>A	AL157464	CCDS31858.1, CCDS53814.1, CCDS55849.1	12q15	2013-07-09			ENSG00000121749	ENSG00000121749			25694	protein-coding gene	gene with protein product		612662				16055087	Standard	NM_022771		Approved	FLJ12085, DKFZp761D0223	uc001swu.3	Q8TC07	OTTHUMG00000158553	ENST00000550746.1:c.1214G>A	12.37:g.72291701G>A	ENSP00000448182:p.Arg405Lys					TBC1D15_uc009zrv.2_Missense_Mutation_p.R289K|TBC1D15_uc010stt.1_Missense_Mutation_p.R396K|TBC1D15_uc001swv.2_Missense_Mutation_p.R410K|TBC1D15_uc001sww.2_Missense_Mutation_p.R159K	p.R427K	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN			11	1289	+			405			Rab-GAP TBC.		B4DMT9|B9A6L6|J3KNI9|Q9HA83	Missense_Mutation	SNP	ENST00000550746.1	37	c.1280G>A	CCDS31858.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844326	0.91197	.	.	ENSG00000121749	ENST00000550746;ENST00000319106;ENST00000485960;ENST00000393309	T;T;T;T	0.10477	2.87;2.87;2.87;2.87	5.71	5.71	0.89125	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.18593	0.0446	L	0.39633	1.23	0.80722	D	1	P;P;B	0.44006	0.824;0.79;0.286	P;P;B	0.48795	0.59;0.454;0.285	T	0.00192	-1.1935	10	0.41790	T	0.15	-7.5277	19.8422	0.96693	0.0:0.0:1.0:0.0	.	396;388;405	E9PH93;Q8TC07-2;Q8TC07	.;.;TBC15_HUMAN	K	405;396;388;159	ENSP00000448182:R405K;ENSP00000318262:R396K;ENSP00000420678:R388K;ENSP00000376986:R159K	ENSP00000318262:R396K	R	+	2	0	TBC1D15	70577968	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.517000	0.98020	2.691000	0.91804	0.563000	0.77884	AGA		0.333	TBC1D15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351266.2		NM_022771		28	71	0	0	0	0.099896	0	28	71		
HECTD4	283450	broad.mit.edu	37	12	112664513	112664513	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr12:112664513C>G	ENST00000430131.2	-	43	6783	c.5638G>C	c.(5638-5640)Gaa>Caa	p.E1880Q	HECTD4_ENST00000550722.1_Missense_Mutation_p.E2156Q|HECTD4_ENST00000377560.5_Missense_Mutation_p.E2130Q			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	1880					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E1880Q(1)|p.E2130Q(1)									TGTATGAATTCTTCACAAAAT	0.398																																						uc009zwc.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)|lung(1)	2						c.(5638-5640)GAA>CAA		chromosome 12 open reading frame 51							83.0	82.0	82.0					12																	112664513		1872	4126	5998	SO:0001583	missense	283450							g.chr12:112664513C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.5638G>C	12.37:g.112664513C>G	ENSP00000404379:p.Glu1880Gln					C12orf51_uc001ttr.1_Missense_Mutation_p.E55Q	p.E1880Q	NM_001109662	NP_001103132					37	5656	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.5638G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.769608|4.769608	0.90020|0.90020	.|.	.|.	ENSG00000173064|ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722|ENST00000550968	T;T;T|.	0.53640|.	0.61;0.61;0.61|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|.	.|.	.|.	.|.	T|T	0.52885|0.52885	0.1762|0.1762	N|N	0.19112|0.19112	0.55|0.55	0.54753|0.54753	D|D	0.999984|0.999984	D|.	0.57899|.	0.981|.	D|.	0.65140|.	0.932|.	T|T	0.48779|0.48779	-0.9005|-0.9005	9|5	0.87932|.	D|.	0|.	.|.	17.8244|17.8244	0.88660|0.88660	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1880|.	Q9Y4D8|.	K0614_HUMAN|.	Q|N	2130;1880;2156|46	ENSP00000366783:E2130Q;ENSP00000404379:E1880Q;ENSP00000449784:E2156Q|.	ENSP00000366783:E2130Q|.	E|K	-|-	1|3	0|2	C12orf51|C12orf51	111148896|111148896	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.444000|2.444000	0.82710|0.82710	0.467000|0.467000	0.42956|0.42956	GAA|AAG		0.398	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813		12	26	0	0	0	0.080935	0	12	26		
IFT88	8100	broad.mit.edu	37	13	21157156	21157156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:21157156C>T	ENST00000319980.6	+	5	505	c.178C>T	c.(178-180)Cca>Tca	p.P60S	IFT88_ENST00000537103.1_Missense_Mutation_p.P51S|IFT88_ENST00000351808.5_Missense_Mutation_p.P51S|IFT88_ENST00000382778.4_Missense_Mutation_p.P60S	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	60					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)		p.P60S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		CAGAAGACCTCCAGTAAGTGA	0.318																																						uc001unh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(178-180)CCA>TCA		intraflagellar transport 88 homolog isoform 1							90.0	92.0	92.0					13																	21157156		2203	4300	6503	SO:0001583	missense	8100				cilium morphogenesis	centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum	protein binding	g.chr13:21157156C>T	AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.178C>T	13.37:g.21157156C>T	ENSP00000323580:p.Pro60Ser					IFT88_uc001uni.2_Missense_Mutation_p.P51S|IFT88_uc001unj.2_Missense_Mutation_p.P50S|IFT88_uc010tcq.1_Missense_Mutation_p.P50S	p.P60S	NM_175605	NP_783195	Q13099	IFT88_HUMAN		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)	5	574	+		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)	60					A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	ENST00000319980.6	37	c.178C>T	CCDS31944.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628127	0.66901	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.34275	1.55;1.56;1.56;1.37	5.08	5.08	0.68730	.	0.055616	0.64402	D	0.000001	T	0.33498	0.0865	M	0.65975	2.015	0.20764	N	0.999851	B;P	0.41673	0.091;0.759	B;B	0.37267	0.027;0.245	T	0.42832	-0.9428	10	0.07482	T	0.82	-7.2745	15.7235	0.77732	0.0:1.0:0.0:0.0	.	51;60	F5H6C2;Q13099	.;IFT88_HUMAN	S	60;51;60;51	ENSP00000372228:P60S;ENSP00000261632:P51S;ENSP00000323580:P60S;ENSP00000437719:P51S	ENSP00000323580:P60S	P	+	1	0	IFT88	20055156	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.947000	0.56652	2.518000	0.84900	0.655000	0.94253	CCA		0.318	IFT88-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044075.3		NM_006531		20	68	0	0	0	0.043863	0	20	68		
UGGT2	55757	broad.mit.edu	37	13	96513055	96513055	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:96513055C>T	ENST00000376747.3	-	32	3797	c.3727G>A	c.(3727-3729)Gaa>Aaa	p.E1243K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1243	Glucosyltransferase.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)	p.E1243K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAAAAACGTTCATATAAATGA	0.254																																						uc001vmt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|central_nervous_system(1)	3						c.(3727-3729)GAA>AAA		UDP-glucose ceramide glucosyltransferase-like 2							44.0	46.0	45.0					13																	96513055		2195	4257	6452	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96513055C>T	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.3727G>A	13.37:g.96513055C>T	ENSP00000365938:p.Glu1243Lys						p.E1243K	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN			32	3897	-			1243			Glucosyltransferase.		A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.3727G>A	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840042	0.91117	.	.	ENSG00000102595	ENST00000376747	T	0.41400	1.0	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.76478	0.3993	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84674	0.0713	10	0.87932	D	0	-24.1483	17.9944	0.89178	0.0:1.0:0.0:0.0	.	1243	Q9NYU1	UGGG2_HUMAN	K	1243	ENSP00000365938:E1243K	ENSP00000365938:E1243K	E	-	1	0	UGGT2	95311056	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.893000	0.75649	2.548000	0.85928	0.655000	0.94253	GAA		0.254	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1		NM_020121		13	65	0	0	0	0.105934	0	13	65		
ATP11A	23250	broad.mit.edu	37	13	113532599	113532599	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr13:113532599G>C	ENST00000487903.1	+	29	3484	c.3396G>C	c.(3394-3396)ctG>ctC	p.L1132L	ATP11A_ENST00000375645.3_Silent_p.L1132L|ATP11A_ENST00000283558.8_Silent_p.L1132L|ATP11A_ENST00000375630.2_Intron			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1132					phospholipid translocation (GO:0045332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L1132L(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCAGCAGCCTGAGTTTCTGAT	0.572																																						uc001vsi.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	large_intestine(2)|ovary(2)	4						c.(3394-3396)CTG>CTC		ATPase, class VI, type 11A isoform a							247.0	184.0	206.0					13																	113532599		2203	4300	6503	SO:0001819	synonymous_variant	23250				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:113532599G>C	AB028944	CCDS32011.1	13q34	2010-04-20	2007-09-19		ENSG00000068650	ENSG00000068650	3.6.3.1	"""ATPases / P-type"""	13552	protein-coding gene	gene with protein product	"""potential phospholipid-transporting ATPase IH"", ""phospholipid-translocating ATPase"""	605868	"""ATPase, Class VI, type 11A"""			11015572	Standard	NM_032189		Approved	ATPIH, ATPIS, KIAA1021	uc001vsj.4	P98196	OTTHUMG00000017371	ENST00000487903.1:c.3396G>C	13.37:g.113532599G>C						ATP11A_uc001vsj.3_Intron|ATP11A_uc010ago.2_RNA	p.L1132L	NM_015205	NP_056020	P98196	AT11A_HUMAN			29	3484	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)	1132			Cytoplasmic (Potential).		Q5VXT2	Silent	SNP	ENST00000487903.1	37	c.3396G>C	CCDS32011.1																																																																																				0.572	ATP11A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000045834.3		NM_015205		17	47	0	0	0	0.038395	0	17	47		
TRAPPC6B	122553	broad.mit.edu	37	14	39627491	39627491	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:39627491G>A	ENST00000330149.5	-	3	491	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	TRAPPC6B_ENST00000557764.1_Intron|TRAPPC6B_ENST00000347691.5_Nonsense_Mutation_p.Q89*	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	89					vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.Q89*(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		TTAATTACCTGATGATTTGTC	0.274																																						uc001wut.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(265-267)CAG>TAG		trafficking protein particle complex 6B isoform							84.0	81.0	82.0					14																	39627491		2198	4296	6494	SO:0001587	stop_gained	122553				vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding	g.chr14:39627491G>A	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.265C>T	14.37:g.39627491G>A	ENSP00000330289:p.Gln89*					TRAPPC6B_uc001wuu.1_Nonsense_Mutation_p.Q89*|TRAPPC6B_uc001wuv.1_RNA|TRAPPC6B_uc010tqd.1_Intron	p.Q89*	NM_001079537	NP_001073005	Q86SZ2	TPC6B_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)	3	600	-	Hepatocellular(127;0.213)		89					B3KPS2|Q5JPD6|Q86U35|Q86X35	Nonsense_Mutation	SNP	ENST00000330149.5	37	c.265C>T	CCDS41947.1	.	.	.	.	.	.	.	.	.	.	G	36	5.768433	0.96914	.	.	ENSG00000182400	ENST00000330149;ENST00000347691;ENST00000554018	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-12.884	19.3237	0.94253	0.0:0.0:1.0:0.0	.	.	.	.	X	89;89;88	.	ENSP00000330289:Q89X	Q	-	1	0	TRAPPC6B	38697242	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.961000	0.93122	2.636000	0.89361	0.655000	0.94253	CAG		0.274	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276775.1		NM_177452		7	42	0	0	0	0.047766	0	7	42		
CTAGE5	4253	broad.mit.edu	37	14	39783995	39783995	+	Nonsense_Mutation	SNP	C	C	T	rs536600046		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:39783995C>T	ENST00000280083.3	+	15	1662	c.1348C>T	c.(1348-1350)Caa>Taa	p.Q450*	CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.Q455*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.Q375*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.Q450*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.Q421*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.Q421*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.Q370*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.Q421*|RP11-407N17.3_ENST00000553728.1_Nonsense_Mutation_p.Q985*|CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.Q450*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.Q438*			O15320	CTGE5_HUMAN	CTAGE family, member 5	450					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.Q450*(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TCATTCTTATCAAGGGCAGGT	0.294																																						uc001wvg.3		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)		0						c.(1348-1350)CAA>TAA		CTAGE family, member 5 isoform 1							43.0	48.0	46.0					14																	39783995		2203	4294	6497	SO:0001587	stop_gained	4253						enzyme activator activity|protein binding	g.chr14:39783995C>T	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1348C>T	14.37:g.39783995C>T	ENSP00000280083:p.Gln450*					CTAGE5_uc010tqe.1_Nonsense_Mutation_p.Q412*|CTAGE5_uc001wuz.3_Nonsense_Mutation_p.Q438*|CTAGE5_uc001wuy.3_Nonsense_Mutation_p.Q370*|CTAGE5_uc001wvb.3_Nonsense_Mutation_p.Q421*|CTAGE5_uc001wvc.3_Nonsense_Mutation_p.Q395*|CTAGE5_uc001wva.3_Nonsense_Mutation_p.Q421*|CTAGE5_uc001wvh.3_Nonsense_Mutation_p.Q450*|CTAGE5_uc001wvf.3_Nonsense_Mutation_p.Q375*|CTAGE5_uc001wvi.3_Nonsense_Mutation_p.Q455*|CTAGE5_uc010amz.2_Nonsense_Mutation_p.Q66*|CTAGE5_uc001wvj.3_Nonsense_Mutation_p.Q421*	p.Q450*	NM_005930	NP_005921	O15320	CTGE5_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)	15	1684	+	Hepatocellular(127;0.213)		450			Potential.		B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Nonsense_Mutation	SNP	ENST00000280083.3	37	c.1348C>T	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	C	42	9.475728	0.99181	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	.	.	.	5.5	4.56	0.56223	.	0.000000	0.33346	N	0.005004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.988	0.80176	0.0:0.8539:0.1461:0.0	.	.	.	.	X	985;438;370;412;421;450;455;450;375;450;421	.	.	Q	+	1	0	CTAGE5;RP11-407N17.3	38853746	0.513000	0.26194	1.000000	0.80357	0.994000	0.84299	0.704000	0.25661	2.596000	0.87737	0.650000	0.86243	CAA		0.294	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2		NM_005930		19	53	0	0	0	0.049695	0	19	53		
LRR1	122769	broad.mit.edu	37	14	50074213	50074213	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:50074213G>A	ENST00000298288.6	+	3	702	c.378G>A	c.(376-378)gtG>gtA	p.V126V	LRR1_ENST00000557531.1_3'UTR|LRR1_ENST00000318317.4_Intron	NM_152329.3	NP_689542.2	Q96L50	LLR1_HUMAN	leucine rich repeat protein 1	126					protein ubiquitination (GO:0016567)			p.V126V(1)		kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCACACCAGTGAAGACTTCAG	0.368																																						uc001wwn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(376-378)GTG>GTA		peptidylprolyl isomerase (cyclophilin)-like 5							54.0	58.0	56.0					14																	50074213		2202	4300	6502	SO:0001819	synonymous_variant	122769							g.chr14:50074213G>A	BC030142	CCDS9686.1, CCDS9687.1	14q21.3	2011-02-02	2011-02-02	2011-02-02	ENSG00000165501	ENSG00000165501			19742	protein-coding gene	gene with protein product	"""LRR-repeat protein 1"""	609193	"""peptidylprolyl isomerase (cyclophilin)-like 5"""	PPIL5		11804328, 21074724	Standard	NR_037792		Approved	MGC20689, LRR-1	uc001wwn.3	Q96L50	OTTHUMG00000140273	ENST00000298288.6:c.378G>A	14.37:g.50074213G>A						SDCCAG1_uc010anj.1_Intron|PPIL5_uc001wwo.2_Intron|PPIL5_uc010ank.2_Silent_p.V67V|PPIL5_uc001wwp.2_RNA	p.V126V	NM_152329	NP_689542	Q96L50	LLR1_HUMAN			3	702	+	all_epithelial(31;0.0021)|Breast(41;0.0124)		126					A5D6X3|B4DDE0|Q52M24|Q86SZ1|Q8N6H9	Silent	SNP	ENST00000298288.6	37	c.378G>A	CCDS9686.1																																																																																				0.368	LRR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410790.1		NM_203467		31	95	0	0	0	0.125774	0	31	95		
NEMF	9147	broad.mit.edu	37	14	50255908	50255908	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:50255908G>A	ENST00000298310.5	-	28	3300	c.2851C>T	c.(2851-2853)Cat>Tat	p.H951Y	NEMF_ENST00000382135.2_Missense_Mutation_p.H151Y|NEMF_ENST00000545773.1_Missense_Mutation_p.H909Y|NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.H930Y			O60524	NEMF_HUMAN	nuclear export mediator factor	951					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.H951Y(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						TGTAACTCATGAGTTATAACC	0.443																																						uc001wxc.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(2851-2853)CAT>TAT		serologically defined colon cancer antigen 1							224.0	214.0	218.0					14																	50255908		2203	4300	6503	SO:0001583	missense	9147					cytoplasm|nucleus		g.chr14:50255908G>A	AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.2851C>T	14.37:g.50255908G>A	ENSP00000298310:p.His951Tyr					SDCCAG1_uc010anj.1_Missense_Mutation_p.H951Y|SDCCAG1_uc001wwz.2_Missense_Mutation_p.H151Y|SDCCAG1_uc001wxa.2_Missense_Mutation_p.H231Y|SDCCAG1_uc010tqi.1_Missense_Mutation_p.H930Y|SDCCAG1_uc001wxe.2_Missense_Mutation_p.H909Y	p.H951Y	NM_004713	NP_004704	O60524	NEMF_HUMAN		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)	28	2919	-	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)	951					A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	ENST00000298310.5	37	c.2851C>T	CCDS9694.1	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027708	0.19512	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000382135;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.45276	0.9;0.91;0.9;0.9	5.55	5.55	0.83447	.	0.451388	0.23698	N	0.045441	T	0.27278	0.0669	N	0.14661	0.345	0.09310	N	0.999992	B;B;B;B;P	0.40731	0.053;0.053;0.087;0.031;0.728	B;B;B;B;B	0.35353	0.053;0.053;0.045;0.024;0.201	T	0.28996	-1.0026	10	0.62326	D	0.03	-0.7378	15.04	0.71781	0.0:0.1418:0.8582:0.0	.	930;926;909;951;151	O60524-3;O60524-5;O60524-4;O60524;O60524-2	.;.;.;NEMF_HUMAN;.	Y	951;909;151;930;723;909	ENSP00000298310:H951Y;ENSP00000438309:H909Y;ENSP00000441016:H930Y;ENSP00000452540:H909Y	ENSP00000298310:H951Y	H	-	1	0	NEMF	49325658	0.987000	0.35691	0.573000	0.28510	0.209000	0.24338	5.324000	0.65863	2.598000	0.87819	0.557000	0.71058	CAT		0.443	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410798.1		NM_004713		53	169	0	0	0	0.139131	0	53	169		
C14orf182	283551	broad.mit.edu	37	14	50472344	50472344	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:50472344G>C	ENST00000399206.1	-	1	1894	c.174C>G	c.(172-174)ctC>ctG	p.L58L	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	58								p.L58L(1)		large_intestine(2)|urinary_tract(1)	3						CCCCGCTACTGAGTGGCAAGA	0.522																																						uc001wxi.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(172-174)CTC>CTG		hypothetical protein LOC283551							171.0	189.0	183.0					14																	50472344		2057	4193	6250	SO:0001819	synonymous_variant	283551							g.chr14:50472344G>C	AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.174C>G	14.37:g.50472344G>C							p.L58L	NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN			1	1895	-			58					A8MYX4	Silent	SNP	ENST00000399206.1	37	c.174C>G	CCDS41949.1																																																																																				0.522	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1		NM_001012706		42	151	0	0	0	0.09836	0	42	151		
ESR2	2100	broad.mit.edu	37	14	64727309	64727309	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:64727309G>A	ENST00000341099.4	-	5	1227	c.810C>T	c.(808-810)ctC>ctT	p.L270L	ESR2_ENST00000357782.2_Silent_p.L270L|ESR2_ENST00000553796.1_Silent_p.L270L|ESR2_ENST00000554572.1_Silent_p.L270L|ESR2_ENST00000557772.1_Silent_p.L270L|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Silent_p.L270L|ESR2_ENST00000358599.5_Silent_p.L270L|ESR2_ENST00000555278.1_Silent_p.L270L|ESR2_ENST00000353772.3_Silent_p.L270L|ESR2_ENST00000542956.1_Silent_p.L270L	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	270	Steroid-binding.				brain development (GO:0007420)|cell-cell signaling (GO:0007267)|epithelial cell maturation involved in prostate gland development (GO:0060743)|extracellular negative regulation of signal transduction (GO:1900116)|gene expression (GO:0010467)|hormone-mediated apoptotic signaling pathway (GO:0008628)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|ovarian follicle development (GO:0001541)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|uterus development (GO:0060065)|vagina development (GO:0060068)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|estrogen receptor activity (GO:0030284)|estrogen response element binding (GO:0034056)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor antagonist activity (GO:0048019)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.L270L(2)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estropipate(DB04574)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCAGGAGGGTGAGCACTAGCT	0.677																																						uc001xha.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	central_nervous_system(2)|ovary(1)	3						c.(808-810)CTC>CTT		estrogen receptor beta isoform 1	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)						37.0	39.0	39.0					14																	64727309		2202	4300	6502	SO:0001819	synonymous_variant	2100				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	g.chr14:64727309G>A	X99101	CCDS9762.1, CCDS32096.1, CCDS55920.1, CCDS61469.1, CCDS61470.1	14q21-q22	2013-01-16			ENSG00000140009	ENSG00000140009		"""Nuclear hormone receptors"""	3468	protein-coding gene	gene with protein product		601663				8769313	Standard	NM_001214902		Approved	NR3A2, Erb	uc001xha.1	Q92731	OTTHUMG00000141306	ENST00000341099.4:c.810C>T	14.37:g.64727309G>A						ESR2_uc001xgu.2_Silent_p.L270L|ESR2_uc001xgv.2_Silent_p.L270L|ESR2_uc001xgw.2_RNA|ESR2_uc001xgx.2_Silent_p.L270L|ESR2_uc001xgy.1_Silent_p.L270L|ESR2_uc001xgz.1_Silent_p.L270L|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Silent_p.L270L|ESR2_uc010aqd.1_RNA	p.L270L	NM_001437	NP_001428	Q92731	ESR2_HUMAN		all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	5	1278	-			270			Steroid-binding.		A8K8K5|G3V5M5|O60608|O60685|O60702|O60703|O75583|O75584|Q0MWT5|Q0MWT6|Q86Z31|Q9UEV6|Q9UHD3|Q9UQK9	Silent	SNP	ENST00000341099.4	37	c.810C>T	CCDS9762.1																																																																																				0.677	ESR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280621.1				21	30	0	0	0	0.055883	0	21	30		
PLEKHG3	26030	broad.mit.edu	37	14	65194411	65194411	+	Missense_Mutation	SNP	C	C	G	rs367708043		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:65194411C>G	ENST00000394691.1	+	2	209	c.62C>G	c.(61-63)tCt>tGt	p.S21C	PLEKHG3_ENST00000247226.7_Missense_Mutation_p.S21C			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	21	Ser-rich.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S21C(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		AGCCTGACCTCTACCACCTCC	0.667																																						uc001xho.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(61-63)TCT>TGT		pleckstrin homology domain containing, family G,							15.0	15.0	15.0					14																	65194411		2191	4268	6459	SO:0001583	missense	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65194411C>G	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.62C>G	14.37:g.65194411C>G	ENSP00000378183:p.Ser21Cys					PLEKHG3_uc001xhn.1_Missense_Mutation_p.S21C|PLEKHG3_uc001xhp.2_Missense_Mutation_p.S21C|PLEKHG3_uc010aqh.1_5'Flank	p.S21C	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	2	331	+			21			Ser-rich.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	ENST00000394691.1	37	c.62C>G		.	.	.	.	.	.	.	.	.	.	C	20.2	3.952571	0.73787	.	.	ENSG00000126822	ENST00000555982;ENST00000247226;ENST00000394691;ENST00000554088;ENST00000554499	T;T;T;T	0.62639	1.75;0.14;0.01;0.65	5.35	5.35	0.76521	.	0.229726	0.36409	N	0.002603	T	0.79100	0.4389	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.81052	-0.1107	10	0.72032	D	0.01	.	17.8197	0.88647	0.0:1.0:0.0:0.0	.	21;21	A1L390;A1L390-3	PKHG3_HUMAN;.	C	21;21;21;42;21	ENSP00000450501:S21C;ENSP00000247226:S21C;ENSP00000378183:S21C;ENSP00000451256:S21C	ENSP00000247226:S21C	S	+	2	0	PLEKHG3	64264164	0.996000	0.38824	0.215000	0.23724	0.408000	0.30992	2.717000	0.47227	2.496000	0.84212	0.561000	0.74099	TCT		0.667	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1		NM_015549		3	10	0	0	0	0.014758	0	3	10		
ZDHHC22	283576	broad.mit.edu	37	14	77605820	77605820	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:77605820G>C	ENST00000319374.4	-	2	464	c.262C>G	c.(262-264)Cca>Gca	p.P88A	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	88					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.P88A(2)		kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GAGGGGCATGGAGTCTTCCTG	0.627																																						uc010asp.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(262-264)CCA>GCA		zinc finger, DHHC domain containing 22							25.0	29.0	28.0					14																	77605820		2087	4202	6289	SO:0001583	missense	283576					integral to membrane	acyltransferase activity|zinc ion binding	g.chr14:77605820G>C	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.262C>G	14.37:g.77605820G>C	ENSP00000318222:p.Pro88Ala						p.P88A	NM_174976	NP_777636	Q8N966	ZDH22_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)	2	465	-			88			DHHC-type.		A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	37	c.262C>G	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.331040	0.01298	.	.	ENSG00000177108	ENST00000319374;ENST00000555389	T	0.55588	0.51	5.57	-0.327	0.12694	.	1.194550	0.05672	N	0.588735	T	0.28466	0.0704	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17228	-1.0376	10	0.15066	T	0.55	.	6.1457	0.20285	0.2488:0.249:0.5022:0.0	.	88	Q8N966	ZDH22_HUMAN	A	88	ENSP00000318222:P88A	ENSP00000318222:P88A	P	-	1	0	ZDHHC22	76675573	1.000000	0.71417	0.000000	0.03702	0.077000	0.17291	3.494000	0.53273	0.253000	0.21552	-0.367000	0.07326	CCA		0.627	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1		NM_174976		5	9	0	0	0	0.014758	0	5	9		
EML5	161436	broad.mit.edu	37	14	89168814	89168814	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:89168814C>G	ENST00000380664.5	-	14	2213	c.2214G>C	c.(2212-2214)ttG>ttC	p.L738F	EML5_ENST00000554922.1_Missense_Mutation_p.L738F|EML5_ENST00000352093.5_Missense_Mutation_p.L738F			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	738						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)	p.L738F(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CGTAGTCTTTCAAAGGATGAA	0.388																																						uc001xxg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)	3						c.(2212-2214)TTG>TTC		echinoderm microtubule associated protein like							91.0	83.0	85.0					14																	89168814		1886	4107	5993	SO:0001583	missense	161436					cytoplasm|microtubule		g.chr14:89168814C>G	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.2214G>C	14.37:g.89168814C>G	ENSP00000370039:p.Leu738Phe					EML5_uc001xxh.1_5'UTR	p.L738F	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			15	2400	-			738			WD 11.		B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Missense_Mutation	SNP	ENST00000380664.5	37	c.2214G>C	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	9.855	1.194634	0.22037	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	T;T;T	0.39787	1.06;2.24;1.06	5.27	2.34	0.29019	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.239529	0.25872	N	0.027751	T	0.38532	0.1044	N	0.26130	0.795	0.38273	D	0.942213	P	0.46064	0.872	P	0.55455	0.776	T	0.36768	-0.9734	10	0.66056	D	0.02	-3.2656	4.1957	0.10441	0.0:0.4924:0.1714:0.3362	.	738	Q05BV3	EMAL5_HUMAN	F	738	ENSP00000451998:L738F;ENSP00000298315:L738F;ENSP00000370039:L738F	ENSP00000298315:L738F	L	-	3	2	EML5	88238567	0.753000	0.28349	0.999000	0.59377	0.997000	0.91878	-0.281000	0.08456	0.747000	0.32809	0.557000	0.71058	TTG		0.388	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1				7	53	0	0	0	0.02938	0	7	53		
CATSPERB	79820	broad.mit.edu	37	14	92088132	92088132	+	Missense_Mutation	SNP	G	G	C	rs143009010		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:92088132G>C	ENST00000256343.3	-	19	2236	c.2080C>G	c.(2080-2082)Cta>Gta	p.L694V		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	694					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)		p.L694V(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				GTGCTCTTTAGAAAGGTCATA	0.383																																						uc001xzs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(2)|skin(2)|ovary(1)	5						c.(2080-2082)CTA>GTA		cation channel, sperm-associated, beta							150.0	133.0	138.0					14																	92088132		2203	4300	6503	SO:0001583	missense	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92088132G>C	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2080C>G	14.37:g.92088132G>C	ENSP00000256343:p.Leu694Val					CATSPERB_uc010aub.1_Missense_Mutation_p.L216V	p.L694V	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			19	2220	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	694					A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	c.2080C>G	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	9.881	1.201510	0.22121	.	.	ENSG00000133962	ENST00000256343	T	0.42900	0.96	5.19	-0.384	0.12474	.	3.193420	0.01047	N	0.004412	T	0.33147	0.0853	L	0.43152	1.355	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.07046	-1.0793	10	0.31617	T	0.26	5.8199	2.2765	0.04103	0.151:0.1279:0.458:0.2631	.	694	Q9H7T0	CTSRB_HUMAN	V	694	ENSP00000256343:L694V	ENSP00000256343:L694V	L	-	1	2	CATSPERB	91157885	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.241000	0.02911	-0.067000	0.12976	0.591000	0.81541	CTA		0.383	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1		NM_024764		51	137	0	0	0	0.139131	0	51	137		
ATG2B	55102	broad.mit.edu	37	14	96752292	96752292	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:96752292C>T	ENST00000359933.4	-	42	6930	c.6037G>A	c.(6037-6039)Gaa>Aaa	p.E2013K		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	2013					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.E2013K(1)		breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GCCGCAGTTTCATAAATGGTC	0.557																																						uc001yfi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|kidney(1)|skin(1)	3						c.(6037-6039)GAA>AAA		ATG2 autophagy related 2 homolog B							40.0	38.0	39.0					14																	96752292		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96752292C>T	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.6037G>A	14.37:g.96752292C>T	ENSP00000353010:p.Glu2013Lys						p.E2013K	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	42	6402	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	2013					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.6037G>A	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	C	30	5.053787	0.93793	.	.	ENSG00000066739	ENST00000359933	T	0.09817	2.94	5.8	5.8	0.92144	Autophagy-related, C-terminal (1);	0.049181	0.85682	D	0.000000	T	0.15262	0.0368	N	0.12746	0.255	0.58432	D	0.999997	D	0.58268	0.982	P	0.60236	0.871	T	0.29731	-1.0002	10	0.13853	T	0.58	.	20.0706	0.97721	0.0:1.0:0.0:0.0	.	2013	Q96BY7	ATG2B_HUMAN	K	2013	ENSP00000353010:E2013K	ENSP00000353010:E2013K	E	-	1	0	ATG2B	95822045	1.000000	0.71417	0.124000	0.21820	0.746000	0.42486	7.468000	0.80943	2.744000	0.94065	0.655000	0.94253	GAA		0.557	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1		NM_018036		6	16	0	0	0	0.069234	0	6	16		
EVL	51466	broad.mit.edu	37	14	100607527	100607527	+	Missense_Mutation	SNP	G	G	A	rs201712062		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:100607527G>A	ENST00000402714.2	+	12	1703	c.1099G>A	c.(1099-1101)Gct>Act	p.A367T	EVL_ENST00000392920.3_Missense_Mutation_p.A369T			Q9UI08	EVL_HUMAN	Enah/Vasp-like	367	EVH2.				actin filament organization (GO:0007015)|actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of stress fiber assembly (GO:0051496)|protein homotetramerization (GO:0051289)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|membrane (GO:0016020)	profilin binding (GO:0005522)|SH3 domain binding (GO:0017124)	p.A369T(1)		cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				GATGAAGCCTGCTGGGAGCGT	0.647																																						uc001ygt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(2)|ovary(1)	3						c.(1099-1101)GCT>ACT		Enah/Vasp-like							109.0	92.0	98.0					14																	100607527		2203	4300	6503	SO:0001583	missense	51466				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding	g.chr14:100607527G>A	AF112209	CCDS9955.1	14q32.2	2014-08-13			ENSG00000196405	ENSG00000196405			20234	protein-coding gene	gene with protein product						10945997, 10993894	Standard	NM_016337		Approved	RNB6	uc001ygu.3	Q9UI08	OTTHUMG00000171530	ENST00000402714.2:c.1099G>A	14.37:g.100607527G>A	ENSP00000384720:p.Ala367Thr					EVL_uc001ygu.2_Missense_Mutation_p.A369T|EVL_uc010avu.2_Missense_Mutation_p.A226T|EVL_uc001ygw.1_5'Flank	p.A367T	NM_016337	NP_057421	Q9UI08	EVL_HUMAN			12	1338	+		Melanoma(154;0.152)	367			EVH2.		A8K105|O95884|Q7Z522|Q8TBV1|Q9UF25|Q9UIC2	Missense_Mutation	SNP	ENST00000402714.2	37	c.1099G>A		.	.	.	.	.	.	.	.	.	.	G	11.12	1.546628	0.27652	.	.	ENSG00000196405	ENST00000402714;ENST00000392920;ENST00000539470;ENST00000554695	T;T	0.70282	-0.45;-0.47	5.03	4.14	0.48551	.	0.565914	0.16395	N	0.216277	T	0.58192	0.2105	L	0.36672	1.1	0.29429	N	0.859963	P;P	0.39480	0.675;0.546	B;B	0.36666	0.23;0.115	T	0.50717	-0.8795	10	0.13853	T	0.58	-0.4037	13.4262	0.61026	0.0764:0.0:0.9236:0.0	.	369;367	Q9UI08-2;Q9UI08	.;EVL_HUMAN	T	367;369;332;163	ENSP00000384720:A367T;ENSP00000376652:A369T	ENSP00000376652:A369T	A	+	1	0	EVL	99677280	0.999000	0.42202	0.556000	0.28293	0.330000	0.28571	5.620000	0.67736	1.118000	0.41863	-0.258000	0.10820	GCT		0.647	EVL-006	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000413958.1				7	38	0	0	0	0.02938	0	7	38		
DYNC1H1	1778	broad.mit.edu	37	14	102442048	102442048	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:102442048G>C	ENST00000360184.4	+	2	420		c.e2-1			NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATGATTTGTAGAGGACGTCGG	0.323																																						uc001yks.2		NaN																	1	Unknown(1)		urinary_tract(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.e2-1		cytoplasmic dynein 1 heavy chain 1							61.0	66.0	64.0					14																	102442048		2203	4300	6503	SO:0001630	splice_region_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102442048G>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.257-1G>C	14.37:g.102442048G>C							p.E86_splice	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			2	421	+								B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Splice_Site	SNP	ENST00000360184.4	37	c.257_splice	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090647	0.76756	.	.	ENSG00000197102	ENST00000360184	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2781	0.94040	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DYNC1H1	101511801	1.000000	0.71417	0.998000	0.56505	0.881000	0.50899	8.958000	0.93099	2.540000	0.85666	0.467000	0.42956	.		0.323	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376	Intron	3	76	0	0	0	0.009096	0	3	76		
INF2	64423	broad.mit.edu	37	14	105181636	105181636	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:105181636C>T	ENST00000392634.4	+	22	3822	c.3710C>T	c.(3709-3711)tCt>tTt	p.S1237F	INF2_ENST00000330634.7_Intron	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1237					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)		p.S1237F(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CCCCCTGATTCTGATGATAAT	0.557																																						uc001ypb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(3709-3711)TCT>TTT		inverted formin 2 isoform 1							158.0	178.0	171.0					14																	105181636		2029	4188	6217	SO:0001583	missense	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105181636C>T	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3710C>T	14.37:g.105181636C>T	ENSP00000376410:p.Ser1237Phe					INF2_uc010tyi.1_Missense_Mutation_p.S1237F|INF2_uc001ypc.2_Intron|INF2_uc010awz.1_RNA	p.S1237F	NM_022489	NP_071934	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	22	3853	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1237					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	ENST00000392634.4	37	c.3710C>T	CCDS9989.2	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072493	0.36566	.	.	ENSG00000203485	ENST00000392634	D	0.83914	-1.78	4.34	4.34	0.51931	.	2.756580	0.01718	U	0.028148	T	0.81128	0.4758	L	0.29908	0.895	0.80722	D	1	P	0.50943	0.94	P	0.44860	0.462	T	0.70461	-0.4865	10	0.56958	D	0.05	.	12.344	0.55109	0.0:1.0:0.0:0.0	.	1237	Q27J81	INF2_HUMAN	F	1237	ENSP00000376410:S1237F	ENSP00000376410:S1237F	S	+	2	0	INF2	104252681	0.977000	0.34250	0.852000	0.33557	0.514000	0.34195	2.611000	0.46334	1.966000	0.57179	0.484000	0.47621	TCT		0.557	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4		NM_022489		48	132	0	0	0	0.139131	0	48	132		
AHNAK2	113146	broad.mit.edu	37	14	105410194	105410194	+	Missense_Mutation	SNP	C	C	T	rs377500233		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr14:105410194C>T	ENST00000333244.5	-	7	11713	c.11594G>A	c.(11593-11595)cGc>cAc	p.R3865H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3865						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.R3865H(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACCTGGCGAGCTTGGAC	0.607																																						uc010axc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(11593-11595)CGC>CAC		AHNAK nucleoprotein 2							130.0	138.0	135.0					14																	105410194		1980	4154	6134	SO:0001583	missense	113146					nucleus		g.chr14:105410194C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11594G>A	14.37:g.105410194C>T	ENSP00000353114:p.Arg3865His					AHNAK2_uc001ypx.2_Missense_Mutation_p.R3765H	p.R3865H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	11714	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3865					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.11594G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	2.362	-0.346299	0.05208	.	.	ENSG00000185567	ENST00000333244	T	0.01068	5.38	3.28	-6.55	0.01854	.	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	P	0.45044	0.849	B	0.35413	0.202	T	0.34153	-0.9840	9	0.45353	T	0.12	.	3.4295	0.07422	0.3015:0.3628:0.2522:0.0835	.	3865	Q8IVF2	AHNK2_HUMAN	H	3865	ENSP00000353114:R3865H	ENSP00000353114:R3865H	R	-	2	0	AHNAK2	104481239	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.027000	0.00310	-4.068000	0.00076	-3.771000	0.00021	CGC		0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		63	154	0	0	0	0.139131	0	63	154		
CYFIP1	23191	broad.mit.edu	37	15	22933811	22933811	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:22933811C>T	ENST00000313077.7	+	8	855	c.730C>T	c.(730-732)Ctg>Ttg	p.L244L	CYFIP1_ENST00000560848.1_Silent_p.L244L	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1									p.L244L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TATTGTGAATCTGTGTGTGGA	0.522																																						uc001yus.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|pancreas(3)|liver(1)|skin(1)	9						c.(730-732)CTG>TTG		cytoplasmic FMR1 interacting protein 1 isoform							155.0	149.0	151.0					15																	22933811		2203	4300	6503	SO:0001819	synonymous_variant	23191				axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding	g.chr15:22933811C>T	D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.730C>T	15.37:g.22933811C>T						CYFIP1_uc001yut.2_Silent_p.L244L|CYFIP1_uc010aya.1_Silent_p.L272L	p.L244L	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)	8	834	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	244						Silent	SNP	ENST00000313077.7	37	c.730C>T	CCDS10009.1																																																																																				0.522	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251136.2		NM_014608		33	148	0	0	0	0.069456	0	33	148		
APBA2	321	broad.mit.edu	37	15	29393870	29393870	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:29393870G>A	ENST00000558402.1	+	11	2006	c.1407G>A	c.(1405-1407)ctG>ctA	p.L469L	APBA2_ENST00000411764.1_Silent_p.L457L|APBA2_ENST00000561069.1_Silent_p.L469L|APBA2_ENST00000558259.1_Silent_p.L469L|APBA2_ENST00000558330.1_Silent_p.L457L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	469	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.L469L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		TTGTAGTGCTGATGGCCAGAC	0.592																																						uc001zck.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1405-1407)CTG>CTA		amyloid beta A4 precursor protein-binding,							104.0	74.0	84.0					15																	29393870		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29393870G>A	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1407G>A	15.37:g.29393870G>A						APBA2_uc010azj.2_Silent_p.L457L|APBA2_uc010uat.1_Silent_p.L457L|APBA2_uc001zcl.2_Silent_p.L457L|APBA2_uc001zcm.1_Silent_p.L161L	p.L469L	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	9	1614	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	469			PID.		E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.1407G>A	CCDS10022.1																																																																																				0.592	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3		NM_005503		4	18	0	0	0	0.014758	0	4	18		
RYR3	6263	broad.mit.edu	37	15	34047305	34047305	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:34047305G>C	ENST00000389232.4	+	58	8509	c.8439G>C	c.(8437-8439)gaG>gaC	p.E2813D	RYR3_ENST00000415757.3_Missense_Mutation_p.E2813D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2813	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E2813D(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTCCATGGAGAAGAGGTTTG	0.443																																						uc001zhi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8437-8439)GAG>GAC		ryanodine receptor 3							103.0	105.0	105.0					15																	34047305		1914	4130	6044	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34047305G>C		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8439G>C	15.37:g.34047305G>C	ENSP00000373884:p.Glu2813Asp					RYR3_uc010bar.2_Missense_Mutation_p.E2813D	p.E2813D	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	58	8509	+		all_lung(180;7.18e-09)	2813			4.|Cytoplasmic (By similarity).|4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8439G>C	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132055	0.77662	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.97665	-0.29;-4.48	5.61	-0.875	0.10628	.	0.000000	0.85682	D	0.000000	D	0.96855	0.8973	M	0.62723	1.935	0.45899	D	0.998745	D;B	0.63046	0.992;0.188	P;B	0.59012	0.85;0.042	D	0.95213	0.8327	10	0.66056	D	0.02	.	11.6229	0.51128	0.5248:0.0:0.4752:0.0	.	2813;2813	Q15413-2;Q15413	.;RYR3_HUMAN	D	2813	ENSP00000373884:E2813D;ENSP00000399610:E2813D	ENSP00000354735:E2813D	E	+	3	2	RYR3	31834597	0.999000	0.42202	0.998000	0.56505	0.974000	0.67602	0.870000	0.28010	-0.087000	0.12528	-0.351000	0.07748	GAG		0.443	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1				4	20	0	0	0	0.014758	0	4	20		
CATSPER2	117155	broad.mit.edu	37	15	43932621	43932621	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:43932621C>T	ENST00000321596.5	-	5	661	c.462G>A	c.(460-462)ttG>ttA	p.L154L	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Silent_p.L154L|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000396879.1_Silent_p.L154L|CATSPER2_ENST00000354127.4_Silent_p.L154L|CATSPER2_ENST00000381761.1_Silent_p.L160L			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	154					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.L154L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TGAAAATAAGCAAGATAAACC	0.418																																						uc001zsh.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(460-462)TTG>TTA		sperm-associated cation channel 2 isoform 2							83.0	82.0	82.0					15																	43932621		2198	4295	6493	SO:0001819	synonymous_variant	117155				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity	g.chr15:43932621C>T	AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.462G>A	15.37:g.43932621C>T						CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Silent_p.L154L|CATSPER2_uc001zsj.2_Silent_p.L154L|CATSPER2_uc001zsk.2_Silent_p.L154L	p.L154L	NM_172095	NP_742093	Q96P56	CTSR2_HUMAN		GBM - Glioblastoma multiforme(94;3.56e-07)	5	677	-		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	154			Helical; Name=Segment S2; (Potential).		Q8NHT9|Q96P54|Q96P55	Silent	SNP	ENST00000321596.5	37	c.462G>A	CCDS10099.1																																																																																				0.418	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2		NM_054020		43	97	0	0	0	0.092188	0	43	97		
ATP8B4	79895	broad.mit.edu	37	15	50152570	50152570	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:50152570G>A	ENST00000284509.6	-	28	3541	c.3400C>T	c.(3400-3402)Cac>Tac	p.H1134Y	ATP8B4_ENST00000559829.1_Missense_Mutation_p.H1134Y	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1134						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.H1134Y(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCTTCTTGGTGAGCAAAAGCA	0.507																																						uc001zxu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(2)|breast(2)|large_intestine(1)	8						c.(3400-3402)CAC>TAC		ATPase class I type 8B member 4							119.0	109.0	113.0					15																	50152570		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50152570G>A	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.3400C>T	15.37:g.50152570G>A	ENSP00000284509:p.His1134Tyr					ATP8B4_uc010ber.2_Missense_Mutation_p.H1007Y|ATP8B4_uc010ufd.1_Missense_Mutation_p.H944Y|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.H137Y	p.H1134Y	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	28	3542	-		all_lung(180;0.00183)	1134			Cytoplasmic (Potential).		Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.3400C>T	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824567	0.90955	.	.	ENSG00000104043	ENST00000284509	T	0.40225	1.04	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.71600	0.3359	M	0.90019	3.08	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77981	-0.2383	10	0.87932	D	0	.	16.8328	0.85949	0.0:0.0:1.0:0.0	.	212;1134	Q6PG43;Q8TF62	.;AT8B4_HUMAN	Y	1134	ENSP00000284509:H1134Y	ENSP00000284509:H1134Y	H	-	1	0	ATP8B4	47939862	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.067000	0.76741	2.574000	0.86865	0.455000	0.32223	CAC		0.507	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1		NM_024837		50	115	0	0	0	0.139131	0	50	115		
TCF12	6938	broad.mit.edu	37	15	57565418	57565418	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:57565418C>G	ENST00000267811.5	+	18	2168	c.1864C>G	c.(1864-1866)Caa>Gaa	p.Q622E	TCF12_ENST00000559703.1_Missense_Mutation_p.Q279E|TCF12_ENST00000343827.3_Missense_Mutation_p.Q452E|TCF12_ENST00000543579.1_Missense_Mutation_p.Q476E|TCF12_ENST00000333725.5_Missense_Mutation_p.Q646E|TCF12_ENST00000537840.1_Missense_Mutation_p.Q386E|TCF12_ENST00000559710.1_Missense_Mutation_p.Q256E|TCF12_ENST00000452095.2_Missense_Mutation_p.Q642E|TCF12_ENST00000438423.2_Missense_Mutation_p.Q646E|TCF12_ENST00000557843.1_Missense_Mutation_p.Q622E	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	622	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)	p.Q646E(2)|p.Q642E(1)|p.Q452E(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TATTCTTCATCAAGCCGTGGC	0.448			T	TEC	extraskeletal myxoid chondrosarcoma																																	uc002aec.2		NaN		Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma		4	Substitution - Missense(4)		urinary_tract(4)	central_nervous_system(5)|ovary(2)|lung(1)	8						c.(1864-1866)CAA>GAA		transcription factor 12 isoform b							89.0	87.0	88.0					15																	57565418		2192	4292	6484	SO:0001583	missense	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57565418C>G	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1864C>G	15.37:g.57565418C>G	ENSP00000267811:p.Gln622Glu					TCF12_uc010ugm.1_Missense_Mutation_p.Q674E|TCF12_uc010ugn.1_Missense_Mutation_p.Q642E|TCF12_uc002aea.2_Missense_Mutation_p.Q646E|TCF12_uc010bfs.2_Missense_Mutation_p.Q43E|TCF12_uc002aeb.2_Missense_Mutation_p.Q646E|TCF12_uc002aed.2_Missense_Mutation_p.Q622E|TCF12_uc002aee.2_Missense_Mutation_p.Q452E|TCF12_uc010bft.2_Missense_Mutation_p.Q476E|TCF12_uc010ugo.1_Missense_Mutation_p.Q386E|TCF12_uc010ugp.1_Missense_Mutation_p.Q279E|TCF12_uc010ugq.1_Missense_Mutation_p.Q256E|TCF12_uc010ugr.1_Missense_Mutation_p.Q235E	p.Q622E	NM_207038	NP_996921	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	18	2148	+		Colorectal(260;0.0907)	622			Helix-loop-helix motif.		Q7Z3D9|Q86TC1|Q86VM2	Missense_Mutation	SNP	ENST00000267811.5	37	c.1864C>G	CCDS10159.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834180	0.91036	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827;ENST00000543417	D;D;D;D;D;D;D	0.97831	-4.56;-4.56;-4.56;-4.56;-4.56;-4.56;-4.56	4.82	4.82	0.62117	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.98757	0.9582	M	0.85710	2.77	0.80722	D	1	D;P;D;D;P;D;D;P;D;P	0.76494	0.989;0.843;0.995;0.999;0.939;0.992;0.986;0.949;0.963;0.954	D;P;D;D;P;D;D;P;D;D	0.78314	0.968;0.894;0.991;0.972;0.681;0.984;0.979;0.844;0.959;0.932	D	0.99399	1.0927	10	0.52906	T	0.07	-34.4586	18.2463	0.89986	0.0:1.0:0.0:0.0	.	642;256;476;386;642;674;476;452;622;646	B4DGI9;B4DZP2;B4DH96;B4E1W1;E9PGY0;F5H6Z6;F5GY10;Q99081-2;Q99081;Q99081-3	.;.;.;.;.;.;.;.;HTF4_HUMAN;.	E	674;622;646;642;646;476;386;452;234	ENSP00000267811:Q622E;ENSP00000388940:Q646E;ENSP00000396881:Q642E;ENSP00000331057:Q646E;ENSP00000440017:Q476E;ENSP00000444696:Q386E;ENSP00000342459:Q452E	ENSP00000267811:Q622E	Q	+	1	0	TCF12	55352710	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.676000	0.84012	2.386000	0.81285	0.655000	0.94253	CAA		0.448	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3		NM_003205		11	40	0	0	0	0.080935	0	11	40		
FAM96A	84191	broad.mit.edu	37	15	64385901	64385901	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:64385901C>T	ENST00000300030.3	-	1	316	c.67G>A	c.(67-69)Gag>Aag	p.E23K	SNX1_ENST00000353874.4_5'Flank|FAM96A_ENST00000557835.1_Missense_Mutation_p.E23K|SNX1_ENST00000561026.1_5'Flank|SNX1_ENST00000559844.1_5'Flank|FAM96A_ENST00000559950.1_Missense_Mutation_p.E23K|SNX1_ENST00000560829.1_5'Flank|FAM96A_ENST00000380290.3_Missense_Mutation_p.E23K|SNX1_ENST00000261889.5_5'Flank	NM_032231.4	NP_115607.1	Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	23					chromosome segregation (GO:0007059)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.E23K(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						GCTCCCGGCTCAGAGAGGCCG	0.582																																						uc002amt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(67-69)GAG>AAG		family with sequence similarity 96, member A							39.0	42.0	41.0					15																	64385901		2203	4300	6503	SO:0001583	missense	84191				chromosome segregation			g.chr15:64385901C>T		CCDS10189.1, CCDS45278.1	15q22.31	2014-01-16			ENSG00000166797	ENSG00000166797			26235	protein-coding gene	gene with protein product						23891004	Standard	NM_032231		Approved	FLJ22875	uc002amt.1	Q9H5X1	OTTHUMG00000132961	ENST00000300030.3:c.67G>A	15.37:g.64385901C>T	ENSP00000300030:p.Glu23Lys					FAM96A_uc002amu.1_Missense_Mutation_p.E23K|FAM96A_uc010uin.1_Missense_Mutation_p.E23K|SNX1_uc010bgv.2_5'Flank|SNX1_uc010uio.1_5'Flank|SNX1_uc002amv.2_5'Flank|SNX1_uc002amw.2_5'Flank|SNX1_uc002amx.2_5'Flank|SNX1_uc002amy.2_5'Flank|SNX1_uc010bgw.2_5'Flank	p.E23K	NM_032231	NP_115607	Q9H5X1	FA96A_HUMAN			1	307	-			23					A6NKS1|B2R5F8|B7Z8Z5	Missense_Mutation	SNP	ENST00000300030.3	37	c.67G>A	CCDS10189.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718037	0.68844	.	.	ENSG00000166797	ENST00000300030;ENST00000380290	.	.	.	5.84	5.84	0.93424	.	0.455842	0.23906	N	0.043390	T	0.34861	0.0912	N	0.14661	0.345	0.37343	D	0.910458	B;B	0.30406	0.278;0.043	B;B	0.24974	0.057;0.011	T	0.36016	-0.9765	9	0.36615	T	0.2	-9.9363	13.2597	0.60098	0.0:0.841:0.159:0.0	.	23;23	B7Z8Z5;Q9H5X1	.;FA96A_HUMAN	K	23	.	ENSP00000300030:E23K	E	-	1	0	FAM96A	62172954	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.403000	0.44530	2.758000	0.94735	0.655000	0.94253	GAG		0.582	FAM96A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256520.1		NM_032231		8	27	0	0	0	0.058154	0	8	27		
ITGA11	22801	broad.mit.edu	37	15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr15:68620499C>A	ENST00000315757.7	-	16	2089	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_ENST00000423218.2_Missense_Mutation_p.C668F	NM_001004439.1	NP_001004439.1	Q9UKX5	ITA11_HUMAN	integrin, alpha 11	668					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|collagen-activated signaling pathway (GO:0038065)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|osteoblast differentiation (GO:0001649)|substrate-dependent cell migration (GO:0006929)	focal adhesion (GO:0005925)|integrin alpha11-beta1 complex (GO:0034681)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)	p.C668F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52						GGCGGCCAGGCAGGTGGCATC	0.577																																						uc002ari.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	kidney(2)|pancreas(1)	3						c.(2002-2004)TGC>TTC		integrin, alpha 11 precursor	Tirofiban(DB00775)						62.0	70.0	67.0					15																	68620499		1992	4157	6149	SO:0001583	missense	22801				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	g.chr15:68620499C>A	AF109681	CCDS45291.1	15q22.3-q23	2010-03-23				ENSG00000137809		"""Integrins"""	6136	protein-coding gene	gene with protein product		604789				10486209	Standard	NM_001004439		Approved	HsT18964	uc002ari.3	Q9UKX5		ENST00000315757.7:c.2003G>T	15.37:g.68620499C>A	ENSP00000327290:p.Cys668Phe					ITGA11_uc010bib.2_Missense_Mutation_p.C668F	p.C668F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN			16	2090	-			668			Extracellular (Potential).		J3KQM2|Q8WYI8|Q9UKQ1	Missense_Mutation	SNP	ENST00000315757.7	37	c.2003G>T	CCDS45291.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563945	0.86335	.	.	ENSG00000137809	ENST00000315757;ENST00000423218;ENST00000535491	T;T	0.61392	0.11;0.11	5.69	5.69	0.88448	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.77246	0.4102	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78254	-0.2275	10	0.62326	D	0.03	.	18.803	0.92025	0.0:1.0:0.0:0.0	.	668;668	A8K8T0;Q9UKX5	.;ITA11_HUMAN	F	668;668;303	ENSP00000327290:C668F;ENSP00000403392:C668F	ENSP00000327290:C668F	C	-	2	0	ITGA11	66407553	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.211000	0.77933	2.692000	0.91855	0.555000	0.69702	TGC		0.577	ITGA11-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_012211		6	38	1	0	1.26484e-09	0.038147	1.40637e-09	6	38		
RNPS1	10921	broad.mit.edu	37	16	2312402	2312402	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:2312402C>T	ENST00000565678.1	-	6	1098	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	RNPS1_ENST00000301730.8_Missense_Mutation_p.G185R|RNPS1_ENST00000566458.1_Missense_Mutation_p.G162R|RNPS1_ENST00000567147.1_Missense_Mutation_p.G162R|RNPS1_ENST00000397086.2_Missense_Mutation_p.G185R|RNPS1_ENST00000320225.5_Missense_Mutation_p.G185R|RNPS1_ENST00000566397.1_Missense_Mutation_p.G8R|RNPS1_ENST00000569598.2_Missense_Mutation_p.G91R|RNPS1_ENST00000568631.1_Missense_Mutation_p.G185R|RNPS1_ENST00000561718.1_Missense_Mutation_p.G8R			Q15287	RNPS1_HUMAN	RNA binding protein S1, serine-rich domain	185	Interaction with SAP18 and ACIN1.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G185R(1)		endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						TTAATTTTCCCATAGGTGGAA	0.488																																						uc002cpt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(553-555)GGG>AGG		RNA-binding protein S1, serine-rich domain							86.0	81.0	83.0					16																	2312402		2198	4300	6498	SO:0001583	missense	10921				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr16:2312402C>T	AF015608	CCDS10465.1, CCDS66907.1, CCDS73811.1	16p13.3	2013-02-12	2001-11-28		ENSG00000205937	ENSG00000205937		"""RNA binding motif (RRM) containing"""	10080	protein-coding gene	gene with protein product		606447	"""RNA-binding protein S1, serine-rich domain"""			9580558, 8543184	Standard	XM_005255048		Approved		uc002cpu.3	Q15287	OTTHUMG00000128828	ENST00000565678.1:c.553G>A	16.37:g.2312402C>T	ENSP00000457723:p.Gly185Arg					RNPS1_uc002cpu.2_Missense_Mutation_p.G185R|RNPS1_uc002cpv.2_Missense_Mutation_p.G8R|RNPS1_uc002cpw.2_Missense_Mutation_p.G185R|RNPS1_uc002cpx.2_Missense_Mutation_p.G162R|RNPS1_uc010uwa.1_RNA	p.G185R	NM_080594	NP_542161	Q15287	RNPS1_HUMAN			6	1099	-			185			Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with the cleaved p110 isoform of CDC2L1.|RRM.		A8K1P0|B4DDU8|B4DZU7|B7ZA17|O75308|Q32P25|Q8WY42|Q9NYG3	Missense_Mutation	SNP	ENST00000565678.1	37	c.553G>A	CCDS10465.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044854	0.75732	.	.	ENSG00000205937	ENST00000320225;ENST00000397086;ENST00000301730	T;T;T	0.47177	0.85;0.85;0.85	4.98	4.98	0.66077	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86178	0.1604	10	0.87932	D	0	-43.8282	15.7997	0.78443	0.0:1.0:0.0:0.0	.	162;185	Q15287-2;Q15287	.;RNPS1_HUMAN	R	185	ENSP00000315859:G185R;ENSP00000380275:G185R;ENSP00000301730:G185R	ENSP00000301730:G185R	G	-	1	0	RNPS1	2252403	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.266000	0.78452	2.593000	0.87608	0.446000	0.29264	GGG		0.488	RNPS1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435415.1		NM_080594		23	50	0	0	0	0.062417	0	23	50		
ZNF205	7755	broad.mit.edu	37	16	3170223	3170223	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:3170223G>A	ENST00000382192.3	+	7	1767	c.1562G>A	c.(1561-1563)cGg>cAg	p.R521Q	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.R521Q|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	521					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.R521Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AACCTGCACCGGCACGAGAAG	0.736																																						uc002cub.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1561-1563)CGG>CAG		zinc finger protein 205							25.0	25.0	25.0					16																	3170223		2196	4298	6494	SO:0001583	missense	7755				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr16:3170223G>A	AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.1562G>A	16.37:g.3170223G>A	ENSP00000371627:p.Arg521Gln					ZNF205_uc002cua.2_Missense_Mutation_p.R521Q	p.R521Q	NM_001042428	NP_001035893	O95201	ZN205_HUMAN			7	1697	+			521			C2H2-type 8.		A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	ENST00000382192.3	37	c.1562G>A	CCDS10494.2	.	.	.	.	.	.	.	.	.	.	G	5.577	0.291346	0.10567	.	.	ENSG00000122386	ENST00000382192;ENST00000219091	T;T	0.07444	3.19;3.19	5.54	4.58	0.56647	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.344528	0.21352	N	0.075947	T	0.02267	0.0070	N	0.08118	0	0.09310	N	1	P	0.42296	0.775	B	0.22601	0.04	T	0.37244	-0.9714	10	0.05436	T	0.98	-19.3714	7.4976	0.27498	0.1767:0.0:0.8233:0.0	.	521	O95201	ZN205_HUMAN	Q	521	ENSP00000371627:R521Q;ENSP00000219091:R521Q	ENSP00000219091:R521Q	R	+	2	0	ZNF205	3110224	0.000000	0.05858	1.000000	0.80357	0.769000	0.43574	-0.395000	0.07287	2.604000	0.88044	0.561000	0.74099	CGG		0.736	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309057.1		NM_003456		9	22	0	0	0	0.047766	0	9	22		
CLUAP1	23059	broad.mit.edu	37	16	3569975	3569975	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:3569975G>A	ENST00000576634.1	+	7	796	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	CLUAP1_ENST00000572600.1_Missense_Mutation_p.E52K|CLUAP1_ENST00000445795.2_5'UTR|CLUAP1_ENST00000571025.1_Missense_Mutation_p.E218K|CLUAP1_ENST00000417763.2_Missense_Mutation_p.E52K|CLUAP1_ENST00000341633.5_Missense_Mutation_p.E218K	NM_015041.2	NP_055856.1	Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	218					cilium assembly (GO:0042384)	centrosome (GO:0005813)|cilium (GO:0005929)|intracellular membrane-bounded organelle (GO:0043231)|intraciliary transport particle B (GO:0030992)|nucleus (GO:0005634)		p.E218K(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						AGCCAAAATCGAAAAGAGAAA	0.383																																						uc002cvk.1		NaN																	2	Substitution - Missense(2)		urinary_tract(1)|large_intestine(1)	ovary(1)|breast(1)|pancreas(1)	3						c.(652-654)GAA>AAA		clusterin associated protein 1 isoform 1							100.0	103.0	102.0					16																	3569975		2197	4300	6497	SO:0001583	missense	23059					nucleus	protein binding	g.chr16:3569975G>A	BC017070	CCDS32381.1, CCDS45398.1	16p13.3	2014-07-18				ENSG00000103351		"""Intraflagellar transport homologs"""	19009	protein-coding gene	gene with protein product	"""flagellar associated protein 22, qilin-like protein, homolog (Chlamydomonas)"", ""cilia and flagella associated protein 22"""					15480429, 9734811, 19253336	Standard	NM_015041		Approved	FLJ13297, KIAA0643, FAP22, CFAP22	uc002cvk.2	Q96AJ1		ENST00000576634.1:c.652G>A	16.37:g.3569975G>A	ENSP00000460850:p.Glu218Lys					CLUAP1_uc002cvj.1_Missense_Mutation_p.E218K|CLUAP1_uc002cvl.1_Missense_Mutation_p.E218K|CLUAP1_uc002cvm.1_Missense_Mutation_p.E52K	p.E218K	NM_015041	NP_055856	Q96AJ1	CLUA1_HUMAN			7	757	+			218			Potential.		O75138|Q65ZA3|Q9H8R4|Q9H8T1	Missense_Mutation	SNP	ENST00000576634.1	37	c.652G>A	CCDS32381.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457052	0.63401	.	.	ENSG00000103351	ENST00000341633;ENST00000417763	T;T	0.43294	0.95;0.95	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.56587	0.1995	L	0.48986	1.54	0.80722	D	1	D;D	0.65815	0.983;0.995	P;D	0.62955	0.714;0.909	T	0.54820	-0.8236	10	0.45353	T	0.12	-9.3317	16.3104	0.82865	0.0:0.0:1.0:0.0	.	52;218	Q96AJ1-2;Q96AJ1	.;CLUA1_HUMAN	K	218;52	ENSP00000344392:E218K;ENSP00000388642:E52K	ENSP00000344392:E218K	E	+	1	0	CLUAP1	3509976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.195000	0.94971	2.444000	0.82710	0.650000	0.86243	GAA		0.383	CLUAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437883.2		NM_024793		40	147	0	0	0	0.09836	0	40	147		
C16orf62	57020	broad.mit.edu	37	16	19621680	19621680	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:19621680G>A	ENST00000251143.5	+	12	978	c.966G>A	c.(964-966)atG>atA	p.M322I	C16orf62_ENST00000438132.3_Missense_Mutation_p.M411I|C16orf62_ENST00000417362.2_Missense_Mutation_p.M322I|C16orf62_ENST00000448695.1_Missense_Mutation_p.M172I|C16orf62_ENST00000542263.1_Missense_Mutation_p.M411I|C16orf62_ENST00000543152.1_Missense_Mutation_p.M71I			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	322						integral component of membrane (GO:0016021)		p.M322I(1)|p.M411I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGACATGCATGATCAGAGGGA	0.547																																						uc002dgn.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(964-966)ATG>ATA		hypothetical protein LOC57020							109.0	83.0	92.0					16																	19621680		2197	4300	6497	SO:0001583	missense	57020					integral to membrane		g.chr16:19621680G>A		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.966G>A	16.37:g.19621680G>A	ENSP00000251143:p.Met322Ile					C16orf62_uc002dgo.1_Missense_Mutation_p.M322I|C16orf62_uc002dgp.1_Missense_Mutation_p.M71I|C16orf62_uc010vas.1_Missense_Mutation_p.M196I|C16orf62_uc002dgm.1_Missense_Mutation_p.M322I	p.M322I	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			12	978	+			322					A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	ENST00000251143.5	37	c.966G>A		.	.	.	.	.	.	.	.	.	.	G	22.3	4.266486	0.80358	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.92	5.92	0.95590	.	0.085303	0.85682	D	0.000000	T	0.47432	0.1445	L	0.57536	1.79	0.80722	D	1	B;B;B;B	0.30236	0.046;0.005;0.029;0.274	B;B;B;B	0.26614	0.029;0.022;0.02;0.071	T	0.33599	-0.9862	9	.	.	.	-24.3617	19.9276	0.97108	0.0:0.0:1.0:0.0	.	322;411;322;411	B3KT69;F5H7K1;Q7Z3J2;E7EWW0	.;.;CP062_HUMAN;.	I	411;411;322;322;172	ENSP00000400815:M411I;ENSP00000442468:M411I;ENSP00000251143:M322I;ENSP00000395973:M322I;ENSP00000398009:M172I	.	M	+	3	0	C16orf62	19529181	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	7.182000	0.77689	2.801000	0.96364	0.650000	0.86243	ATG		0.547	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_020314		5	17	0	0	0	0.021553	0	5	17		
NLRC5	84166	broad.mit.edu	37	16	57063929	57063929	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:57063929G>A	ENST00000262510.6	+	10	2575	c.2350G>A	c.(2350-2352)Gtg>Atg	p.V784M	NLRC5_ENST00000308149.7_Missense_Mutation_p.V784M|NLRC5_ENST00000436936.1_Missense_Mutation_p.V784M|NLRC5_ENST00000539144.1_Missense_Mutation_p.V784M	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	784					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.V784M(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CAGCATCTGCGTGTCAACCCT	0.577																																						uc002ekk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|skin(2)|breast(1)	7						c.(2350-2352)GTG>ATG		nucleotide-binding oligomerization domains 27							132.0	107.0	115.0					16																	57063929		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57063929G>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.2350G>A	16.37:g.57063929G>A	ENSP00000262510:p.Val784Met					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.V533M|NLRC5_uc002ekl.2_Missense_Mutation_p.V589M|NLRC5_uc002ekm.2_Missense_Mutation_p.V589M|NLRC5_uc010ccr.1_RNA	p.V784M	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			10	2575	+		all_neural(199;0.225)	784			LRR 4.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.2350G>A	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.58|13.58	2.278897|2.278897	0.40294|0.40294	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000538805|ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110;ENST00000543030	.|T;T;T;T;T;T	.|0.53857	.|0.64;0.64;0.64;0.64;0.64;0.6	4.86|4.86	0.334|0.334	0.15948|0.15948	.|.	.|1.721060	.|0.03904	.|N	.|0.280762	T|T	0.35278|0.35278	0.0926|0.0926	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.33494	.|0.414;0.377;0.224;0.259	.|B;B;B;B	.|0.26614	.|0.034;0.071;0.04;0.032	T|T	0.17319|0.17319	-1.0373|-1.0373	5|10	.|0.40728	.|T	.|0.16	.|.	3.7923|3.7923	0.08726|0.08726	0.4591:0.0:0.3611:0.1798|0.4591:0.0:0.3611:0.1798	.|.	.|784;784;784;784	.|Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3	.|.;.;.;NLRC5_HUMAN	H|M	536|784;784;784;258;784;291;83	.|ENSP00000262510:V784M;ENSP00000308886:V784M;ENSP00000389739:V784M;ENSP00000441727:V784M;ENSP00000441597:V291M;ENSP00000440153:V83M	.|ENSP00000262510:V784M	R|V	+|+	2|1	0|0	NLRC5|NLRC5	55621430|55621430	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.029000|0.029000	0.11900|0.11900	0.396000|0.396000	0.20867|0.20867	-0.073000|-0.073000	0.12842|0.12842	0.563000|0.563000	0.77884|0.77884	CGT|GTG		0.577	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1		NM_032206		20	58	0	0	0	0.043863	0	20	58		
DOK4	55715	broad.mit.edu	37	16	57508776	57508776	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:57508776G>A	ENST00000340099.4	-	6	899	c.528C>T	c.(526-528)ctC>ctT	p.L176L	DOK4_ENST00000569548.1_Silent_p.L176L|DOK4_ENST00000561918.1_5'Flank|DOK4_ENST00000566936.1_Silent_p.L176L	NM_018110.3	NP_060580.2	Q8TEW6	DOK4_HUMAN	docking protein 4	176	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.L176L(1)		kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GCCACGAGACGAGCTTCACAC	0.637																																						uc010cdb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(526-528)CTC>CTT		docking protein 4							108.0	92.0	98.0					16																	57508776		2198	4300	6498	SO:0001819	synonymous_variant	55715						insulin receptor binding	g.chr16:57508776G>A	BC003541	CCDS10783.1	16q13	2013-01-10			ENSG00000125170	ENSG00000125170		"""Pleckstrin homology (PH) domain containing"""	19868	protein-coding gene	gene with protein product		608333				10493829	Standard	NM_018110		Approved	FLJ10488	uc002elv.4	Q8TEW6	OTTHUMG00000133460	ENST00000340099.4:c.528C>T	16.37:g.57508776G>A						DOK4_uc002elu.1_Silent_p.L176L|DOK4_uc002elv.3_Silent_p.L176L	p.L176L	NM_018110	NP_060580	Q8TEW6	DOK4_HUMAN			5	826	-			176			IRS-type PTB.		O75209|Q9BTP2|Q9NVV3	Silent	SNP	ENST00000340099.4	37	c.528C>T	CCDS10783.1																																																																																				0.637	DOK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257335.3				11	30	0	0	0	0.080935	0	11	30		
DRC7	84229	broad.mit.edu	37	16	57757006	57757006	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:57757006G>A	ENST00000360716.3	+	12	1722	c.1501G>A	c.(1501-1503)Gac>Aac	p.D501N	CCDC135_ENST00000394337.4_Missense_Mutation_p.D501N|CCDC135_ENST00000336825.8_Missense_Mutation_p.D436N			Q8IY82	CC135_HUMAN		501					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.D501N(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCTGAAGACAGACTACTTCAA	0.577																																						uc002emi.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(1501-1503)GAC>AAC		coiled-coil domain containing 135							104.0	102.0	103.0					16																	57757006		2198	4300	6498	SO:0001583	missense	84229					cytoplasm		g.chr16:57757006G>A																												ENST00000360716.3:c.1501G>A	16.37:g.57757006G>A	ENSP00000353942:p.Asp501Asn					CCDC135_uc002emj.2_Missense_Mutation_p.D501N|CCDC135_uc002emk.2_Missense_Mutation_p.D436N	p.D501N	NM_032269	NP_115645	Q8IY82	CC135_HUMAN			11	1590	+			501					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1501G>A	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	17.10	3.303954	0.60305	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.10960	2.98;2.82;2.98	5.4	5.4	0.78164	.	0.099527	0.64402	D	0.000002	T	0.18002	0.0432	M	0.72894	2.215	0.40543	D	0.981046	P;P	0.47545	0.897;0.828	B;B	0.42653	0.294;0.394	T	0.01643	-1.1305	10	0.72032	D	0.01	-50.9391	15.9147	0.79503	0.0:0.0:1.0:0.0	.	436;501	Q8IY82-2;Q8IY82	.;CC135_HUMAN	N	501;436;501	ENSP00000377869:D501N;ENSP00000338938:D436N;ENSP00000353942:D501N	ENSP00000338938:D436N	D	+	1	0	CCDC135	56314507	1.000000	0.71417	0.949000	0.38748	0.024000	0.10985	7.072000	0.76777	2.535000	0.85469	0.650000	0.86243	GAC		0.577	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2				31	75	0	0	0	0.144211	0	31	75		
CCDC113	29070	broad.mit.edu	37	16	58292407	58292407	+	Missense_Mutation	SNP	G	G	A	rs151051990		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:58292407G>A	ENST00000219299.4	+	4	605	c.526G>A	c.(526-528)Gag>Aag	p.E176K	CCDC113_ENST00000443128.2_Missense_Mutation_p.E122K	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	176						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)		p.E176K(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GAAATACATTGAGGACATGAA	0.408																																						uc002ene.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(526-528)GAG>AAG		coiled-coil domain containing 113 isoform 1							71.0	69.0	70.0					16																	58292407		2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58292407G>A	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.526G>A	16.37:g.58292407G>A	ENSP00000219299:p.Glu176Lys					CCDC113_uc010vid.1_Missense_Mutation_p.E122K	p.E176K	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			4	605	+			176			Potential.		B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.526G>A	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234457	0.58886	.	.	ENSG00000103021	ENST00000443128;ENST00000219299	T;T	0.37411	1.23;1.2	5.18	5.18	0.71444	.	0.157644	0.56097	D	0.000039	T	0.46795	0.1411	M	0.72894	2.215	0.52501	D	0.999952	D;D	0.61080	0.986;0.989	P;P	0.50490	0.563;0.642	T	0.36962	-0.9726	10	0.17369	T	0.5	-17.1417	16.5638	0.84573	0.0:0.0:1.0:0.0	.	122;176	B4DR20;Q9H0I3	.;CC113_HUMAN	K	122;176	ENSP00000402588:E122K;ENSP00000219299:E176K	ENSP00000219299:E176K	E	+	1	0	CCDC113	56849908	1.000000	0.71417	0.781000	0.31783	0.046000	0.14306	4.533000	0.60615	2.575000	0.86900	0.655000	0.94253	GAG		0.408	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2		NM_014157		13	61	0	0	0	0.105934	0	13	61		
ZFHX3	463	broad.mit.edu	37	16	72992824	72992824	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:72992824G>A	ENST00000268489.5	-	2	1893	c.1221C>T	c.(1219-1221)acC>acT	p.T407T	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	407					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T407T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTACCGAGCTGGTGAGCCCGC	0.657																																						uc002fck.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(1219-1221)ACC>ACT		zinc finger homeobox 3 isoform A							54.0	66.0	62.0					16																	72992824		2196	4295	6491	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992824G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1221C>T	16.37:g.72992824G>A						ZFHX3_uc002fcl.2_Intron	p.T407T	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	1894	-		Ovarian(137;0.13)	407					D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.1221C>T	CCDS10908.1																																																																																				0.657	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		NM_006885		40	106	0	0	0	0.104719	0	40	106		
CDYL2	124359	broad.mit.edu	37	16	80666970	80666970	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr16:80666970G>T	ENST00000570137.2	-	3	935	c.780C>A	c.(778-780)ttC>ttA	p.F260L	CDYL2_ENST00000563890.1_Missense_Mutation_p.F261L|CDYL2_ENST00000566173.1_Missense_Mutation_p.F261L|CDYL2_ENST00000562812.1_Missense_Mutation_p.F261L	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	260						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.F260L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGATGTGCGTGAACCCTTCTT	0.552																																						uc002ffs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(778-780)TTC>TTA		chromodomain protein, Y-like 2							192.0	139.0	157.0					16																	80666970		2203	4300	6503	SO:0001583	missense	124359					nucleus	catalytic activity|protein binding	g.chr16:80666970G>T	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.780C>A	16.37:g.80666970G>T	ENSP00000476295:p.Phe260Leu						p.F260L	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			3	885	-			260					Q7Z5I8	Missense_Mutation	SNP	ENST00000570137.2	37	c.780C>A	CCDS32493.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546221	0.86022	.	.	ENSG00000166446	ENST00000299564	T	0.62498	0.02	4.52	4.52	0.55395	.	0.057708	0.64402	N	0.000001	T	0.67988	0.2952	L	0.46819	1.47	0.51767	D	0.999938	D	0.56968	0.978	P	0.60789	0.879	T	0.70200	-0.4937	10	0.72032	D	0.01	.	10.0735	0.42347	0.0922:0.0:0.9078:0.0	.	260	Q8N8U2	CDYL2_HUMAN	L	260	ENSP00000299564:F260L	ENSP00000299564:F260L	F	-	3	2	CDYL2	79224471	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	5.060000	0.64312	2.347000	0.79759	0.491000	0.48974	TTC		0.552	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2		NM_152342		31	85	1	0	5.45727e-16	0.134883	6.1106e-16	31	85		
SMG6	23293	broad.mit.edu	37	17	2202737	2202737	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:2202737C>A	ENST00000263073.6	-	2	1360	c.1310G>T	c.(1309-1311)gGa>gTa	p.G437V	SMG6_ENST00000544865.1_Missense_Mutation_p.G406V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	437	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.G437V(1)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTACCAGATCCAAACAAAAG	0.542																																					Melanoma(59;28 1088 11621 25887 46638 50814)	uc002fub.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|lung(1)|kidney(1)	4						c.(1309-1311)GGA>GTA		Smg-6 homolog, nonsense mediated mRNA decay							93.0	104.0	100.0					17																	2202737		2203	4300	6503	SO:0001583	missense	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2202737C>A	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1310G>T	17.37:g.2202737C>A	ENSP00000263073:p.Gly437Val					SMG6_uc002fud.1_Missense_Mutation_p.G406V	p.G437V	NM_017575	NP_060045	Q86US8	EST1A_HUMAN			2	1365	-			437			Interaction with telomeric DNA.		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	ENST00000263073.6	37	c.1310G>T	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171465	0.57584	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.13657	2.58;2.57	5.54	5.54	0.83059	.	0.308380	0.33813	N	0.004539	T	0.20292	0.0488	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.02150	-1.1205	10	0.34782	T	0.22	-5.8631	12.0392	0.53444	0.0:0.9208:0.0:0.0791	.	437	Q86US8	EST1A_HUMAN	V	437;406	ENSP00000263073:G437V;ENSP00000443920:G406V	ENSP00000263073:G437V	G	-	2	0	SMG6	2149487	0.999000	0.42202	1.000000	0.80357	0.948000	0.59901	3.278000	0.51662	2.592000	0.87571	0.650000	0.86243	GGA		0.542	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3				42	78	1	0	1.96642e-18	0.092188	2.22534e-18	42	78		
SRR	63826	broad.mit.edu	37	17	2222174	2222174	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:2222174C>G	ENST00000344595.5	+	4	668	c.350C>G	c.(349-351)gCa>gGa	p.A117G	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	117					aging (GO:0007568)|brain development (GO:0007420)|D-serine biosynthetic process (GO:0070179)|D-serine metabolic process (GO:0070178)|L-serine metabolic process (GO:0006563)|protein homotetramerization (GO:0051289)|pyruvate biosynthetic process (GO:0042866)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|serine family amino acid metabolic process (GO:0009069)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|D-serine ammonia-lyase activity (GO:0008721)|glycine binding (GO:0016594)|L-serine ammonia-lyase activity (GO:0003941)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|serine racemase activity (GO:0030378)|threonine racemase activity (GO:0018114)	p.A117G(1)		NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)	AAAAAACTTGCAATACAAGCC	0.438																																						uc002fue.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(349-351)GCA>GGA		serine racemase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						178.0	172.0	174.0					17																	2222174		2203	4300	6503	SO:0001583	missense	63826				D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity	g.chr17:2222174C>G	AF169974	CCDS11017.1	17p13	2007-01-18			ENSG00000167720	ENSG00000167720			14398	protein-coding gene	gene with protein product		606477				17067558, 15953485, 15193426	Standard	NM_021947		Approved	ILV1, ISO1	uc002fue.1	Q9GZT4	OTTHUMG00000090583	ENST00000344595.5:c.350C>G	17.37:g.2222174C>G	ENSP00000339435:p.Ala117Gly					SRR_uc002fui.1_5'UTR	p.A117G	NM_021947	NP_068766	Q9GZT4	SRR_HUMAN		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	4	418	+		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	117					D3DTI5|Q6IA55	Missense_Mutation	SNP	ENST00000344595.5	37	c.350C>G	CCDS11017.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.376088	0.61735	.	.	ENSG00000167720	ENST00000344595	D	0.96802	-4.13	5.2	5.2	0.72013	Pyridoxal phosphate-dependent enzyme, beta subunit (2);	0.167211	0.53938	D	0.000057	D	0.96358	0.8812	M	0.70595	2.14	0.58432	D	0.999996	B	0.23540	0.087	B	0.36092	0.217	D	0.95095	0.8225	10	0.54805	T	0.06	-16.3651	17.7256	0.88364	0.0:1.0:0.0:0.0	.	117	Q9GZT4	SRR_HUMAN	G	117	ENSP00000339435:A117G	ENSP00000339435:A117G	A	+	2	0	SRR	2168924	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	4.920000	0.63390	2.413000	0.81919	0.650000	0.86243	GCA		0.438	SRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207129.2		NM_021947		57	95	0	0	0	0.139131	0	57	95		
TRPV1	7442	broad.mit.edu	37	17	3494637	3494637	+	Nonsense_Mutation	SNP	G	G	A	rs201084712		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:3494637G>A	ENST00000571088.1	-	3	508	c.295C>T	c.(295-297)Cag>Tag	p.Q99*	TRPV1_ENST00000399756.4_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.Q99*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000174621.6_Silent_p.P73P|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.Q99*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.Q99*	NM_018727.5	NP_061197.4	Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	99					calcium ion transmembrane transport (GO:0070588)|cell surface receptor signaling pathway (GO:0007166)|cellular response to alkaloid (GO:0071312)|cellular response to ATP (GO:0071318)|chemosensory behavior (GO:0007635)|ion transmembrane transport (GO:0034220)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|calcium-release channel activity (GO:0015278)|excitatory extracellular ligand-gated ion channel activity (GO:0005231)|phosphoprotein binding (GO:0051219)|transmembrane signaling receptor activity (GO:0004888)	p.Q99*(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	ACAGAGTCCTGGGACAGCAGC	0.582																																					Melanoma(38;962 1762 15789)	uc010vrr.1		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(1)	1						c.(295-297)CAG>TAG		transient receptor potential cation channel,	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)						39.0	45.0	43.0					17																	3494637		1962	4152	6114	SO:0001587	stop_gained	7442				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding	g.chr17:3494637G>A	AJ272063	CCDS45576.1	17p13.2	2014-08-12	2002-01-29	2002-02-01	ENSG00000196689	ENSG00000262304		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12716	protein-coding gene	gene with protein product		602076	"""vanilloid receptor subtype 1"""	VR1		9349813, 11549313, 16382100	Standard	NM_018727		Approved		uc010vrt.2	Q8NER1	OTTHUMG00000177649	ENST00000571088.1:c.295C>T	17.37:g.3494637G>A	ENSP00000461007:p.Gln99*					TRPV1_uc010vro.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vrp.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vrq.1_Silent_p.P73P|TRPV1_uc010vrs.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vrt.1_Nonsense_Mutation_p.Q99*|TRPV1_uc010vru.1_Nonsense_Mutation_p.Q99*	p.Q99*	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN		Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	2	822	-			99			Cytoplasmic (Potential).		A2RUA9|Q3LU47|Q9H0G9|Q9H303|Q9H304|Q9NQ74|Q9NY22	Nonsense_Mutation	SNP	ENST00000571088.1	37	c.295C>T	CCDS45576.1	.	.	.	.	.	.	.	.	.	.	G	38	7.246795	0.98161	.	.	ENSG00000196689	ENST00000399759;ENST00000399756;ENST00000425167;ENST00000310522	.	.	.	5.21	3.01	0.34805	.	2.240000	0.02593	U	0.100145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-19.6446	7.7262	0.28761	0.0:0.1495:0.5033:0.3472	.	.	.	.	X	99	.	ENSP00000311692:Q99X	Q	-	1	0	TRPV1	3441386	1.000000	0.71417	0.997000	0.53966	0.928000	0.56348	2.135000	0.42112	1.284000	0.44531	0.655000	0.94253	CAG		0.582	TRPV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438254.1		NM_018727		10	12	0	0	0	0.058154	0	10	12		
ASGR1	432	broad.mit.edu	37	17	7080605	7080605	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:7080605G>A	ENST00000269299.3	-	3	510	c.111C>T	c.(109-111)tcC>tcT	p.S37S	ASGR1_ENST00000572879.1_5'UTR|ASGR1_ENST00000380920.4_5'UTR|ASGR1_ENST00000574388.1_Intron	NM_001197216.2|NM_001671.4	NP_001184145.1|NP_001662.1	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	37					cellular response to extracellular stimulus (GO:0031668)|receptor-mediated endocytosis (GO:0006898)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	asialoglycoprotein receptor activity (GO:0004873)|carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.S37S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GGCGAGGTCCGGAGCAGAGAC	0.682											OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002ges.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)|central_nervous_system(1)	2						c.(109-111)TCC>TCT		asialoglycoprotein receptor 1							56.0	65.0	62.0					17																	7080605		2203	4300	6503	SO:0001819	synonymous_variant	432				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding	g.chr17:7080605G>A		CCDS11089.1, CCDS56017.1	17p13-p11	2011-08-30			ENSG00000141505	ENSG00000141505		"""C-type lectin domain containing"""	742	protein-coding gene	gene with protein product		108360					Standard	NM_001671		Approved	CLEC4H1	uc002ges.4	P07306	OTTHUMG00000102159	ENST00000269299.3:c.111C>T	17.37:g.7080605G>A			OREG0024128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	639	ASGR1_uc010clx.1_5'Flank	p.S37S	NM_001671	NP_001662	P07306	ASGR1_HUMAN			3	521	-			37			Cytoplasmic (Probable).		I3L1X1	Silent	SNP	ENST00000269299.3	37	c.111C>T	CCDS11089.1																																																																																				0.682	ASGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220004.3		NM_001671		3	27	0	0	0	0.115264	0	3	27		
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:7577085C>T	ENST00000269305.4	-	8	1042	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.E285K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E285K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTCTCTTCCTCTGTGCGCCGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		165	Substitution - Missense(115)|Substitution - Nonsense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1)	urinary_tract(53)|breast(18)|large_intestine(15)|lung(11)|upper_aerodigestive_tract(10)|stomach(8)|haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(6)|oesophagus(6)|liver(6)|skin(5)|prostate(4)|bone(4)|biliary_tract(3)|ovary(3)|adrenal_gland(1)|soft_tissue(1)|eye(1)|pancreas(1)|thyroid(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM995136	TP53	M	rs112431538	c.(853-855)GAG>AAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							91.0	78.0	82.0					17																	7577085		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577085C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.853G>A	17.37:g.7577085C>T	ENSP00000269305:p.Glu285Lys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K	p.E285K	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1047	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	285		E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.853G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703759	0.88924	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99816	-6.91;-6.91;-6.91;-6.91;-6.91;-6.91	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.89904	3.07	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.87578	0.994;0.983;0.994;0.998	D	0.96661	0.9489	10	0.87932	D	0	-38.0538	15.807	0.78520	0.0:1.0:0.0:0.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	285;285;285;285;285;274;153	ENSP00000352610:E285K;ENSP00000269305:E285K;ENSP00000398846:E285K;ENSP00000391127:E285K;ENSP00000391478:E285K;ENSP00000425104:E153K	ENSP00000269305:E285K	E	-	1	0	TP53	7517810	1.000000	0.71417	0.900000	0.35374	0.716000	0.41182	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		14	24	0	0	0	0.132662	0	14	24		
TP53	7157	broad.mit.edu	37	17	7578188	7578188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:7578188C>A	ENST00000269305.4	-	6	850	c.661G>T	c.(661-663)Gag>Tag	p.E221*	TP53_ENST00000359597.4_Nonsense_Mutation_p.E221*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E221*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E221*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E221*|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Nonsense_Mutation_p.E221*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	221	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E221*(14)|p.?(11)|p.0?(8)|p.E221fs*4(3)|p.E128*(3)|p.E221K(2)|p.Y220_P223delYEPP(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.E221fs*26(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCAGGCGGCTCATAGGGCACC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		48	Substitution - Nonsense(17)|Unknown(11)|Whole gene deletion(8)|Deletion - Frameshift(4)|Deletion - In frame(3)|Insertion - Frameshift(3)|Substitution - Missense(2)	p.0?(7)|p.E221*(5)|p.E221fs*4(3)|p.E221G(2)|p.E221K(2)|p.E221D(2)|p.E221fs*26(2)|p.E221E(2)|p.Y220_P223delYEPP(1)|p.?(1)|p.E221fs*2(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y220fs*25(1)|p.V218fs*26(1)	upper_aerodigestive_tract(9)|biliary_tract(5)|endometrium(5)|urinary_tract(5)|lung(5)|bone(4)|central_nervous_system(3)|oesophagus(2)|ovary(2)|vulva(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|salivary_gland(1)|breast(1)|skin(1)|large_intestine(1)|liver(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(661-663)GAG>TAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							100.0	92.0	94.0					17																	7578188		2203	4300	6503	SO:0001587	stop_gained	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578188C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.661G>T	17.37:g.7578188C>A	ENSP00000269305:p.Glu221*	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Nonsense_Mutation_p.E221*|TP53_uc002gih.2_Nonsense_Mutation_p.E221*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E89*|TP53_uc010cng.1_Nonsense_Mutation_p.E89*|TP53_uc002gii.1_Nonsense_Mutation_p.E89*|TP53_uc010cnh.1_Nonsense_Mutation_p.E221*|TP53_uc010cni.1_Nonsense_Mutation_p.E221*|TP53_uc002gij.2_Nonsense_Mutation_p.E221*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E128*|TP53_uc002gio.2_Nonsense_Mutation_p.E89*|TP53_uc010vug.1_Nonsense_Mutation_p.E182*	p.E221*	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	855	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	221		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.661G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353387	0.95830	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.31	0.51392	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.6014	12.2235	0.54447	0.0:0.9162:0.0:0.0838	.	.	.	.	X	221;221;221;221;221;221;210;128;89;128	.	ENSP00000269305:E221X	E	-	1	0	TP53	7518913	1.000000	0.71417	0.299000	0.25016	0.996000	0.88848	6.045000	0.71020	1.364000	0.46038	0.563000	0.77884	GAG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		15	15	1	0	2.31682e-05	0.132662	2.54931e-05	15	15		
MED24	9862	broad.mit.edu	37	17	38187864	38187864	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:38187864C>G	ENST00000394128.2	-	11	1075	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	MED24_ENST00000394127.2_Missense_Mutation_p.E319Q|MED24_ENST00000501516.3_Missense_Mutation_p.E351Q|MED24_ENST00000394126.1_Missense_Mutation_p.E357Q|MED24_ENST00000479829.1_5'Flank|MED24_ENST00000356271.3_Missense_Mutation_p.E319Q	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	332					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.E332Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TTGACATCCTCAGTGAAGTCC	0.567																																						uc002htt.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(994-996)GAG>CAG		mediator complex subunit 24 isoform 1							87.0	77.0	80.0					17																	38187864		2203	4300	6503	SO:0001583	missense	9862				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:38187864C>G	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.994G>C	17.37:g.38187864C>G	ENSP00000377686:p.Glu332Gln					MED24_uc010wes.1_Missense_Mutation_p.E192Q|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Missense_Mutation_p.E357Q|MED24_uc002htu.2_Missense_Mutation_p.E319Q|MED24_uc010cwn.2_Missense_Mutation_p.E319Q|MED24_uc010weu.1_Missense_Mutation_p.E242Q|MED24_uc010wev.1_Missense_Mutation_p.E282Q|MED24_uc010wew.1_Missense_Mutation_p.E261Q|MED24_uc010wex.1_Missense_Mutation_p.E37Q	p.E332Q	NM_014815	NP_055630	O75448	MED24_HUMAN			11	1307	-	Colorectal(19;0.000442)		332					A8K4S5|B3KMR9|Q14143|Q9NNY5	Missense_Mutation	SNP	ENST00000394128.2	37	c.994G>C	CCDS11359.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.996256	0.54147	.	.	ENSG00000008838	ENST00000394126;ENST00000356271;ENST00000394128;ENST00000535071;ENST00000394127;ENST00000536318;ENST00000431269	T;T;T	0.70516	0.84;0.84;-0.49	5.62	4.65	0.58169	Mediator complex, subunit Med24, N-terminal (1);	0.130404	0.53938	D	0.000043	T	0.69097	0.3073	L	0.38838	1.175	0.58432	D	0.999998	B;D;B;B;B;B	0.61080	0.153;0.989;0.042;0.042;0.052;0.137	B;P;B;B;B;B	0.52957	0.076;0.714;0.093;0.093;0.15;0.093	T	0.65512	-0.6150	10	0.22706	T	0.39	-19.5889	14.1233	0.65203	0.0:0.9268:0.0:0.0732	.	273;282;242;319;332;274	B4DSQ6;F5H5K2;F8W9R9;O75448-2;O75448;F5H0K1	.;.;.;.;MED24_HUMAN;.	Q	332;332;332;282;319;274;242	ENSP00000377686:E332Q;ENSP00000443344:E282Q;ENSP00000377685:E319Q	ENSP00000348610:E332Q	E	-	1	0	MED24	35441390	1.000000	0.71417	0.978000	0.43139	0.990000	0.78478	5.632000	0.67819	1.380000	0.46344	0.655000	0.94253	GAG		0.567	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2		NM_014815		17	69	0	0	0	0.038395	0	17	69		
TMEM99	147184	broad.mit.edu	37	17	38991464	38991464	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:38991464C>T	ENST00000301665.3	+	3	1000	c.696C>T	c.(694-696)ctC>ctT	p.L232L		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	232						integral component of membrane (GO:0016021)		p.L232L(1)		cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGCAAAGCCTCATATTACTCT	0.418																																						uc002hvj.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(1)	1						c.(694-696)CTC>CTT		transmembrane protein 99 precursor							59.0	56.0	57.0					17																	38991464		1858	4059	5917	SO:0001819	synonymous_variant	147184					integral to membrane		g.chr17:38991464C>T	AK097454	CCDS42319.1	17q21.2	2008-11-06			ENSG00000167920	ENSG00000167920			28305	protein-coding gene	gene with protein product						12477932	Standard	NM_001195386		Approved	MGC21518	uc021txc.1	Q8N816	OTTHUMG00000133579	ENST00000301665.3:c.696C>T	17.37:g.38991464C>T							p.L232L	NM_145274	NP_660317	Q8N816	TMM99_HUMAN			3	1003	+		Breast(137;0.000301)	232			Helical; (Potential).		B4DQ34|Q96BP9	Silent	SNP	ENST00000301665.3	37	c.696C>T	CCDS42319.1																																																																																				0.418	TMEM99-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257681.1		NM_145274		45	59	0	0	0	0.104719	0	45	59		
SCN4A	6329	broad.mit.edu	37	17	62020202	62020202	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:62020202G>A	ENST00000435607.1	-	23	4348	c.4272C>T	c.(4270-4272)gtC>gtT	p.V1424V	SCN4A_ENST00000578147.1_Silent_p.V1424V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1424					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V1424V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGACAGGATGACGACCACGA	0.602																																						uc002jds.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4270-4272)GTC>GTT		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						97.0	96.0	96.0					17																	62020202		2199	4290	6489	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62020202G>A	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4272C>T	17.37:g.62020202G>A							p.V1424V	NM_000334	NP_000325	P35499	SCN4A_HUMAN			23	4349	-			1424			Helical; Name=S3 of repeat IV; (Potential).|IV.		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.4272C>T	CCDS45761.1																																																																																				0.602	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_000334		6	22	0	0	0	0.021553	0	6	22		
SGSH	6448	broad.mit.edu	37	17	78188482	78188482	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr17:78188482G>C	ENST00000326317.6	-	4	524	c.438C>G	c.(436-438)ctC>ctG	p.L146L	SGSH_ENST00000572208.1_Intron|SGSH_ENST00000534910.1_5'UTR|SGSH_ENST00000570923.1_Missense_Mutation_p.S158C	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	146			L -> P (in MPS3A; severe). {ECO:0000269|PubMed:9554748}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.L146L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCCCACCTGGAGGACGGAGC	0.612																																						uc002jxz.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(436-438)CTC>CTG		N-sulfoglucosamine sulfohydrolase precursor							75.0	61.0	66.0					17																	78188482		2202	4300	6502	SO:0001819	synonymous_variant	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78188482G>C	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.438C>G	17.37:g.78188482G>C						SGSH_uc002jya.3_5'UTR|SGSH_uc002jxy.2_Silent_p.L146L|SGSH_uc010wue.1_Missense_Mutation_p.S158C	p.L146L	NM_000199	NP_000190	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		4	525	-	all_neural(118;0.0952)		146		L -> P (in MPS3A; severe).			A8K5E2	Silent	SNP	ENST00000326317.6	37	c.438C>G	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	g	12.79	2.043578	0.36085	.	.	ENSG00000181523	ENST00000535808	.	.	.	4.21	-0.992	0.10232	.	.	.	.	.	T	0.52338	0.1728	.	.	.	0.80722	D	1	B	0.14012	0.009	B	0.15484	0.013	T	0.52756	-0.8533	7	0.87932	D	0	-26.0494	13.0639	0.59022	0.0:0.6494:0.2413:0.1093	.	158	B7Z9A6	.	C	158	.	ENSP00000443457:S158C	S	-	2	0	SGSH	75803077	0.758000	0.28405	0.983000	0.44433	0.121000	0.20230	-0.114000	0.10757	0.031000	0.15407	0.558000	0.71614	TCC		0.612	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1		NM_000199		13	30	0	0	0	0.105934	0	13	30		
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						uc010dln.2		NaN																	12	Substitution - Missense(12)		endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	skin(3)	3						c.(1429-1431)CGG>CAG		ANKRD26-like family B, member 2							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln					POTEC_uc010xaj.1_RNA	p.R477Q	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			10	1884	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1		XM_496269		4	48	0	0	0	0.009096	0	4	48		
ZNF57	126295	broad.mit.edu	37	19	2918122	2918122	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:2918122G>C	ENST00000306908.5	+	4	1651	c.1503G>C	c.(1501-1503)gaG>gaC	p.E501D	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.E469D	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E501D(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		ACACTGGAGAGAAACCTCACA	0.463																																					NSCLC(150;910 1964 4303 10464 26498)	uc002lwr.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1501-1503)GAG>GAC		zinc finger protein 57							87.0	66.0	73.0					19																	2918122		2203	4300	6503	SO:0001583	missense	126295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2918122G>C	M88368	CCDS12098.1	19p13.3	2013-01-08			ENSG00000171970	ENSG00000171970		"""Zinc fingers, C2H2-type"", ""-"""	13125	protein-coding gene	gene with protein product			"""zinc finger protein 424"""	ZNF424		1505991	Standard	NM_173480		Approved		uc002lwr.3	Q68EA5	OTTHUMG00000164485	ENST00000306908.5:c.1503G>C	19.37:g.2918122G>C	ENSP00000303696:p.Glu501Asp					ZNF57_uc010xha.1_Missense_Mutation_p.E469D	p.E501D	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1651	+			501					Q8N6R9	Missense_Mutation	SNP	ENST00000306908.5	37	c.1503G>C	CCDS12098.1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.378388	0.42207	.	.	ENSG00000171970	ENST00000306908;ENST00000395204;ENST00000523428	T;T	0.26810	1.71;1.71	2.25	-0.202	0.13208	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24890	0.0604	L	0.44542	1.39	0.22066	N	0.999381	D	0.55385	0.971	P	0.49887	0.625	T	0.13495	-1.0507	9	0.62326	D	0.03	.	4.1449	0.10212	0.1437:0.0:0.6299:0.2264	.	501	Q68EA5	ZNF57_HUMAN	D	501;503;469	ENSP00000303696:E501D;ENSP00000430223:E469D	ENSP00000303696:E501D	E	+	3	2	ZNF57	2869122	0.141000	0.22595	0.004000	0.12327	0.130000	0.20726	0.162000	0.16501	-0.108000	0.12066	-0.350000	0.07774	GAG		0.463	ZNF57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378969.1		NM_173480		29	37	0	0	0	0.108266	0	29	37		
MUC16	94025	broad.mit.edu	37	19	9061174	9061174	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:9061174G>C	ENST00000397910.4	-	3	26475	c.26272C>G	c.(26272-26274)Caa>Gaa	p.Q8758E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8760	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.Q8758E(2)|p.Q4391E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGTGGATTGAGCAGGACCT	0.498																																						uc002mkp.2		NaN																	3	Substitution - Missense(3)		urinary_tract(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(26272-26274)CAA>GAA		mucin 16							150.0	136.0	141.0					19																	9061174		1974	4153	6127	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9061174G>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26272C>G	19.37:g.9061174G>C	ENSP00000381008:p.Gln8758Glu						p.Q8758E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	26476	-			8760			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.26272C>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	3.301	-0.142810	0.06669	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	2.37	-3.52	0.04682	.	.	.	.	.	T	0.02012	0.0063	L	0.34521	1.04	.	.	.	B	0.16396	0.017	B	0.17098	0.017	T	0.38950	-0.9637	8	0.87932	D	0	.	6.8415	0.23965	0.0:0.5416:0.2749:0.1835	.	8758	B5ME49	.	E	8758	ENSP00000381008:Q8758E	ENSP00000381008:Q8758E	Q	-	1	0	MUC16	8922174	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.240000	0.18042	-0.650000	0.05423	-0.863000	0.03009	CAA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		22	47	0	0	0	0.062417	0	22	47		
CD97	976	broad.mit.edu	37	19	14516631	14516631	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:14516631C>T	ENST00000242786.5	+	14	1781	c.1701C>T	c.(1699-1701)ctC>ctT	p.L567L	CD97_ENST00000358600.3_Silent_p.L474L|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.L518L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	567					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.L567L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTGCATCCTCACTTTCCTGC	0.632																																						uc002myl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(3)|breast(1)	4						c.(1699-1701)CTC>CTT		CD97 antigen isoform 1 precursor							172.0	130.0	144.0					19																	14516631		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14516631C>T		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1701C>T	19.37:g.14516631C>T						CD97_uc002mym.2_Silent_p.L518L|CD97_uc002myn.2_Silent_p.L474L	p.L567L	NM_078481	NP_510966	P48960	CD97_HUMAN			14	1824	+			567			Helical; Name=1; (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.1701C>T	CCDS32929.1																																																																																				0.632	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2		NM_078481		23	79	0	0	0	0.116897	0	23	79		
PLVAP	83483	broad.mit.edu	37	19	17487865	17487865	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:17487865G>A	ENST00000252590.4	-	1	294	c.233C>T	c.(232-234)aCg>aTg	p.T78M		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	78					MAPK cascade (GO:0000165)|positive regulation of cellular extravasation (GO:0002693)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T78M(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGGAGGCCGTGAGCCCTAG	0.617																																						uc002ngk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(232-234)ACG>ATG		plasmalemma vesicle associated protein							118.0	100.0	106.0					19																	17487865		2203	4300	6503	SO:0001583	missense	83483					caveola|integral to membrane|perinuclear region of cytoplasm		g.chr19:17487865G>A	AF326591	CCDS32952.1	19p13.2	2008-07-17				ENSG00000130300			13635	protein-coding gene	gene with protein product	"""fenestrated-endothelial linked structure protein; PV-1 protein"""	607647				11401446	Standard	NM_031310		Approved	gp68, PV-1, PV1, FELS	uc002ngk.1	Q9BX97		ENST00000252590.4:c.233C>T	19.37:g.17487865G>A	ENSP00000252590:p.Thr78Met						p.T78M	NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN			1	283	-			78			Extracellular (Potential).		Q86VP0|Q8N8Y0|Q8ND68|Q8TER8|Q9BZD5	Missense_Mutation	SNP	ENST00000252590.4	37	c.233C>T	CCDS32952.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497820	0.44455	.	.	ENSG00000130300	ENST00000252590	T	0.36157	1.27	4.77	-0.111	0.13576	.	0.992865	0.08184	N	0.985027	T	0.31482	0.0798	N	0.24115	0.695	0.09310	N	1	P	0.52842	0.956	P	0.52758	0.708	T	0.24440	-1.0160	10	0.49607	T	0.09	-9.9849	4.5482	0.12092	0.2042:0.3576:0.4382:0.0	.	78	Q9BX97	PLVAP_HUMAN	M	78	ENSP00000252590:T78M	ENSP00000252590:T78M	T	-	2	0	PLVAP	17348865	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.064000	0.14437	0.522000	0.28464	-0.258000	0.10820	ACG		0.617	PLVAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463655.1		NM_031310		10	32	0	0	0	0.069234	0	10	32		
ZNF493	284443	broad.mit.edu	37	19	21606279	21606279	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:21606279C>G	ENST00000355504.4	+	2	700	c.434C>G	c.(433-435)tCt>tGt	p.S145C	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.S273C	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S273C(1)|p.S145C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGGCACATCTTTCTACCAA	0.348																																						uc002npx.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(433-435)TCT>TGT		zinc finger protein 493 isoform 1							52.0	54.0	53.0					19																	21606279		2203	4297	6500	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606279C>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.434C>G	19.37:g.21606279C>G	ENSP00000347691:p.Ser145Cys					ZNF493_uc002npw.2_Missense_Mutation_p.S273C|ZNF493_uc002npy.2_Missense_Mutation_p.S145C	p.S145C	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	714	+			145			C2H2-type 5.		G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.434C>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	3.254	-0.152578	0.06585	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.19806	2.12;2.12	0.927	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17704	0.0425	M	0.63208	1.945	0.09310	N	1	B;P	0.37038	0.006;0.579	B;B	0.29785	0.011;0.107	T	0.13361	-1.0512	9	0.52906	T	0.07	.	6.3469	0.21355	0.0:0.4433:0.5567:0.0	.	145;273	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	C	273;145	ENSP00000376110:S273C;ENSP00000347691:S145C	ENSP00000347691:S145C	S	+	2	0	ZNF493	21398119	0.000000	0.05858	0.016000	0.15963	0.016000	0.09150	-0.908000	0.04063	0.378000	0.24764	0.384000	0.25694	TCT		0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1		NM_175910		31	106	0	0	0	0.144211	0	31	106		
PDCD2L	84306	broad.mit.edu	37	19	34900411	34900411	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:34900411C>A	ENST00000246535.3	+	4	729	c.682C>A	c.(682-684)Caa>Aaa	p.Q228K	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	228					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.Q228K(1)		breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTTGCTTTCCCAAAGGTGAGG	0.507																																						uc002nvj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(682-684)CAA>AAA		programmed cell death 2-like							95.0	84.0	88.0					19																	34900411		2203	4300	6503	SO:0001583	missense	84306					cytoplasm		g.chr19:34900411C>A	BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.682C>A	19.37:g.34900411C>A	ENSP00000246535:p.Gln228Lys						p.Q228K	NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		4	715	+	Esophageal squamous(110;0.162)		228						Missense_Mutation	SNP	ENST00000246535.3	37	c.682C>A	CCDS12438.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869547	0.33069	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.86	3.6	0.41247	Programmed cell death protein 2, C-terminal (1);	0.745034	0.13908	N	0.354442	T	0.28566	0.0707	L	0.28608	0.87	0.21184	N	0.999762	B	0.32101	0.356	B	0.31390	0.129	T	0.09100	-1.0690	9	0.07030	T	0.85	-0.2022	13.4692	0.61273	0.0:0.5947:0.4053:0.0	.	228	Q9BRP1	PDD2L_HUMAN	K	228	.	ENSP00000246535:Q228K	Q	+	1	0	PDCD2L	39592251	1.000000	0.71417	0.990000	0.47175	0.973000	0.67179	1.650000	0.37292	1.457000	0.47850	0.655000	0.94253	CAA		0.507	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459251.3		NM_032346		4	44	1	0	0.00909568	0.009096	0.00983818	4	44		
RYR1	6261	broad.mit.edu	37	19	39001344	39001344	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:39001344C>G	ENST00000359596.3	+	60	9045	c.9045C>G	c.(9043-9045)ctC>ctG	p.L3015L	RYR1_ENST00000355481.4_Silent_p.L3015L|RYR1_ENST00000360985.3_Silent_p.L3015L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3015					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.L3015L(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ACCACTGCCTCTATTTCTTGT	0.567																																						uc002oit.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(9043-9045)CTC>CTG		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						180.0	183.0	182.0					19																	39001344		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39001344C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9045C>G	19.37:g.39001344C>G						RYR1_uc002oiu.2_Silent_p.L3015L|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	p.L3015L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		60	9175	+	all_cancers(60;7.91e-06)		3015			Cytoplasmic.		Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.9045C>G	CCDS33011.1																																																																																				0.567	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1				46	152	0	0	0	0.139131	0	46	152		
EID2B	126272	broad.mit.edu	37	19	40023151	40023151	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:40023151C>G	ENST00000326282.4	-	1	343	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	CTB-60E11.9_ENST00000594676.1_RNA|EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1			EP300 interacting inhibitor of differentiation 2B									p.E98Q(1)		endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCAGATACTCGCGGAACAAC	0.612																																						uc002olz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(292-294)GAG>CAG		EP300 interacting inhibitor of differentiation							42.0	46.0	44.0					19																	40023151		2203	4300	6503	SO:0001583	missense	126272				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr19:40023151C>G	AK096263	CCDS12539.1	19q13.2	2008-02-05				ENSG00000176401			26796	protein-coding gene	gene with protein product						15970276	Standard	NM_152361		Approved	EID-3, FLJ38944	uc002olz.1	Q96D98		ENST00000326282.4:c.292G>C	19.37:g.40023151C>G	ENSP00000317564:p.Glu98Gln						p.E98Q	NM_152361	NP_689574	Q96D98	EID2B_HUMAN	Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	344	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		98						Missense_Mutation	SNP	ENST00000326282.4	37	c.292G>C	CCDS12539.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334116	0.41297	.	.	ENSG00000176401	ENST00000326282	T	0.30448	1.53	2.23	1.15	0.20763	.	.	.	.	.	T	0.16041	0.0386	N	0.14661	0.345	0.21697	N	0.999588	B	0.13145	0.007	B	0.04013	0.001	T	0.22836	-1.0205	9	0.33141	T	0.24	.	6.6534	0.22975	0.0:0.3279:0.6721:0.0	.	98	Q96D98	EID2B_HUMAN	Q	98	ENSP00000317564:E98Q	ENSP00000317564:E98Q	E	-	1	0	EID2B	44714991	0.076000	0.21285	0.890000	0.34922	0.903000	0.53119	0.805000	0.27112	0.502000	0.28037	0.306000	0.20318	GAG		0.612	EID2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464961.1		NM_152361		7	52	0	0	0	0.038147	0	7	52		
MEGF8	1954	broad.mit.edu	37	19	42848852	42848852	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:42848852C>G	ENST00000251268.6	+	12	1964	c.1964C>G	c.(1963-1965)tCa>tGa	p.S655*	MEGF8_ENST00000334370.4_Nonsense_Mutation_p.S655*	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	655					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.S655*(2)|p.S196*(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGCAGATCTCAGGCACTGTG	0.687																																						uc002otl.3		NaN																	3	Substitution - Nonsense(3)		urinary_tract(3)	ovary(1)	1						c.(1963-1965)TCA>TGA		multiple EGF-like-domains 8							49.0	53.0	52.0					19																	42848852		2203	4300	6503	SO:0001587	stop_gained	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848852C>G	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1964C>G	19.37:g.42848852C>G	ENSP00000251268:p.Ser655*					MEGF8_uc002otm.3_Nonsense_Mutation_p.S196*	p.S655*	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			12	2599	+		Prostate(69;0.00682)	705			Extracellular (Potential).		A8KAY0|O75097	Nonsense_Mutation	SNP	ENST00000251268.6	37	c.1964C>G		.	.	.	.	.	.	.	.	.	.	C	45	12.013879	0.99627	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-7.6333	15.489	0.75590	0.0:1.0:0.0:0.0	.	.	.	.	X	655	.	ENSP00000251268:S655X	S	+	2	0	MEGF8	47540692	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	4.972000	0.63756	2.252000	0.74401	0.457000	0.33378	TCA		0.687	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1		NM_001410		13	43	0	0	0	0.0333	0	13	43		
CEACAM1	634	broad.mit.edu	37	19	43026092	43026092	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:43026092G>A	ENST00000161559.6	-	3	821	c.687C>T	c.(685-687)gtC>gtT	p.V229V	CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000358394.3_Silent_p.V229V|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000352591.5_Silent_p.V229V|CEACAM1_ENST00000308072.4_Silent_p.V189V|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000599389.1_Silent_p.V229V|CEACAM1_ENST00000403444.3_Silent_p.V229V|CEACAM1_ENST00000403461.1_Silent_p.V229V	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	229	Ig-like C2-type 1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.V229V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	CATTCAAGGTGACTGGGTCAC	0.557																																						uc002otv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)|central_nervous_system(1)	2						c.(685-687)GTC>GTT		carcinoembryonic antigen-related cell adhesion	Arcitumomab(DB00113)						184.0	166.0	172.0					19																	43026092		2203	4300	6503	SO:0001819	synonymous_variant	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43026092G>A	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.687C>T	19.37:g.43026092G>A						uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron|CEACAM1_uc010eii.2_5'Flank|CEACAM1_uc002otw.2_Silent_p.V229V|CEACAM1_uc010eij.2_Silent_p.V229V|CEACAM1_uc002otx.2_Silent_p.V229V|CEACAM1_uc002oty.2_Silent_p.V229V|CEACAM1_uc002otz.2_Silent_p.V229V|CEACAM1_uc010eik.2_Intron|CEACAM1_uc002oua.2_Silent_p.V229V|CEACAM1_uc002oub.2_Silent_p.V229V|CEACAM1_uc002ouc.2_Silent_p.V229V	p.V229V	NM_001712	NP_001703	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	3	800	-		Prostate(69;0.00682)	229			Ig-like C2-type 1.|Extracellular (Potential).		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Silent	SNP	ENST00000161559.6	37	c.687C>T	CCDS12609.1																																																																																				0.557	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2		NM_001712		40	131	0	0	0	0.092188	0	40	131		
ZNF575	284346	broad.mit.edu	37	19	44039832	44039832	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:44039832G>C	ENST00000314228.5	+	4	1243	c.731G>C	c.(730-732)aGa>aCa	p.R244T	ZNF575_ENST00000458714.2_Missense_Mutation_p.R343T|ZNF575_ENST00000601282.1_Missense_Mutation_p.R244T	NM_174945.2	NP_777605.1	Q86XF7	ZN575_HUMAN	zinc finger protein 575	244					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R244T(1)		large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4		Prostate(69;0.0199)				AAGGGGGAGAGAGACTGAGCC	0.612																																						uc002ows.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(730-732)AGA>ACA		zinc finger protein 575							12.0	11.0	12.0					19																	44039832		2197	4284	6481	SO:0001583	missense	284346				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44039832G>C	BC043611	CCDS12623.1	19q13.31	2013-09-20			ENSG00000176472	ENSG00000176472		"""Zinc fingers, C2H2-type"""	27606	protein-coding gene	gene with protein product							Standard	NM_174945		Approved	FLJ32567	uc002ows.3	Q86XF7	OTTHUMG00000182698	ENST00000314228.5:c.731G>C	19.37:g.44039832G>C	ENSP00000315870:p.Arg244Thr					ZNF575_uc002owq.2_Missense_Mutation_p.R343T	p.R244T	NM_174945	NP_777605	Q86XF7	ZN575_HUMAN			4	1259	+		Prostate(69;0.0199)	244					B4DX54	Missense_Mutation	SNP	ENST00000314228.5	37	c.731G>C	CCDS12623.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023077	0.54683	.	.	ENSG00000176472	ENST00000458714;ENST00000314228	T;T	0.09911	2.93;3.16	3.99	1.78	0.24846	Zinc finger, C2H2 (1);	0.174068	0.27700	N	0.018211	T	0.05090	0.0136	N	0.17082	0.46	0.09310	N	1	B;B	0.33694	0.079;0.421	B;B	0.26864	0.032;0.074	T	0.33240	-0.9876	10	0.87932	D	0	-5.325	4.6444	0.12565	0.2072:0.1847:0.608:0.0	.	244;343	Q86XF7;B3KQ07	ZN575_HUMAN;.	T	343;244	ENSP00000413956:R343T;ENSP00000315870:R244T	ENSP00000315870:R244T	R	+	2	0	ZNF575	48731672	0.539000	0.26402	0.003000	0.11579	0.003000	0.03518	0.067000	0.14510	0.425000	0.26087	-0.259000	0.10710	AGA		0.612	ZNF575-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463191.1		NM_174945		5	19	0	0	0	0.021553	0	5	19		
CBLC	23624	broad.mit.edu	37	19	45285644	45285644	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:45285644C>G	ENST00000270279.3	+	4	738	c.675C>G	c.(673-675)ctC>ctG	p.L225L	CBLC_ENST00000341505.4_Silent_p.L225L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	225	Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.|SH2-like.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L225L(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CAACACTCCTCAAGAACTGGC	0.612			M		AML																																	uc002ozs.2		NaN		Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|lung(1)|skin(1)	6						c.(673-675)CTC>CTG		Cas-Br-M (murine) ecotropic retroviral							115.0	111.0	112.0					19																	45285644		2203	4300	6503	SO:0001819	synonymous_variant	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45285644C>G	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.675C>G	19.37:g.45285644C>G						CBLC_uc010ejt.2_Silent_p.L225L	p.L225L	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN			4	738	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	225			SH2-like.|Cbl-PTB.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Silent	SNP	ENST00000270279.3	37	c.675C>G	CCDS12643.1																																																																																				0.612	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2		NM_012116		25	122	0	0	0	0.144211	0	25	122		
TBC1D17	79735	broad.mit.edu	37	19	50387619	50387619	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:50387619C>T	ENST00000221543.5	+	11	1535	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F	TBC1D17_ENST00000535102.2_Silent_p.F379F	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	412	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				autophagy (GO:0006914)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	Rab GTPase activator activity (GO:0005097)	p.F412F(1)		NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TGTATCACTTCGACCTCGGTG	0.662																																						uc002pqo.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1234-1236)TTC>TTT		TBC1 domain family, member 17							140.0	139.0	139.0					19																	50387619		2203	4300	6503	SO:0001819	synonymous_variant	79735					intracellular	Rab GTPase activator activity	g.chr19:50387619C>T	AK090606	CCDS12785.1, CCDS54294.1	19q13.33	2013-07-09				ENSG00000104946			25699	protein-coding gene	gene with protein product						22854040	Standard	NM_024682		Approved	FLJ12168	uc002pqo.3	Q9HA65		ENST00000221543.5:c.1236C>T	19.37:g.50387619C>T						TBC1D17_uc010ybg.1_Silent_p.F379F|TBC1D17_uc002pqp.2_Silent_p.F63F|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Silent_p.F63F|TBC1D17_uc002pqs.2_RNA	p.F412F	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	11	1388	+		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)	412			Rab-GAP TBC.		B4DT12|B9A6L8|F5H1W7	Silent	SNP	ENST00000221543.5	37	c.1236C>T	CCDS12785.1																																																																																				0.662	TBC1D17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466404.1		NM_024682		51	207	0	0	0	0.139131	0	51	207		
KLK3	354	broad.mit.edu	37	19	51361378	51361378	+	Silent	SNP	C	C	G	rs2739452		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:51361378C>G	ENST00000326003.2	+	3	341	c.300C>G	c.(298-300)ctC>ctG	p.L100L	KLK3_ENST00000360617.3_Silent_p.L100L|KLK3_ENST00000595952.1_Intron|KLK3_ENST00000597483.1_Intron|KLK3_ENST00000593997.1_Silent_p.L100L	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	100	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cellular protein metabolic process (GO:0044267)|negative regulation of angiogenesis (GO:0016525)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.L100L(2)		breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		CACACCCGCTCTACGATATGA	0.582																																					Colon(185;1767 2023 13025 30120 37630)	uc002pts.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	upper_aerodigestive_tract(1)|ovary(1)|kidney(1)	3						c.(298-300)CTC>CTG		prostate specific antigen isoform 3							93.0	76.0	81.0					19																	51361378		2203	4300	6503	SO:0001819	synonymous_variant	354				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51361378C>G	X14810	CCDS12807.1, CCDS33083.1, CCDS46155.1	19q13.41	2012-10-02	2006-10-27			ENSG00000142515		"""Kallikreins"""	6364	protein-coding gene	gene with protein product		176820	"""kallikrein 3, (prostate specific antigen)"""	APS		2456523, 2436946, 16800724, 16800723	Standard	NM_001648		Approved	PSA	uc021uyi.1	P07288		ENST00000326003.2:c.300C>G	19.37:g.51361378C>G						KLK3_uc010ycj.1_Silent_p.L100L|KLK3_uc002ptr.1_Intron|KLK3_uc010eof.1_Intron	p.L100L	NM_001030047	NP_001025218	P07288	KLK3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)	3	341	+		all_neural(266;0.057)	100			Peptidase S1.		C9JXH3|G3V0H4|G3XAE3|Q15096|Q16272|Q86TG8|Q8IXI4	Silent	SNP	ENST00000326003.2	37	c.300C>G	CCDS12807.1																																																																																				0.582	KLK3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464067.1		NM_145864		6	46	0	0	0	0.021553	0	6	46		
LILRA3	11026	broad.mit.edu	37	19	54802062	54802062	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:54802062G>A	ENST00000251390.3	-	6	1217	c.1126C>T	c.(1126-1128)Cat>Tat	p.H376Y	LILRA3_ENST00000391744.3_Missense_Mutation_p.H312Y|LILRA3_ENST00000391745.1_Missense_Mutation_p.H393Y	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	376	Ig-like C2-type 4.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.H376Y(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTACTTATGAGATTGGCGC	0.577																																						uc002qfd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1126-1128)CAT>TAT		leukocyte immunoglobulin-like receptor,							132.0	118.0	123.0					19																	54802062		2193	4169	6362	SO:0001583	missense	11026				defense response	extracellular region|plasma membrane	antigen binding|receptor activity	g.chr19:54802062G>A	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.1126C>T	19.37:g.54802062G>A	ENSP00000251390:p.His376Tyr					LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Missense_Mutation_p.H312Y	p.H376Y	NM_006865	NP_006856	Q8N6C8	LIRA3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	6	1191	-	Ovarian(34;0.19)		376			Ig-like C2-type 4.		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.1126C>T	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.647689	0.00792	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.02837	4.14;4.14;4.14	3.07	-6.13	0.02118	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	6.173170	0.00769	N	0.001187	T	0.01835	0.0058	N	0.20685	0.6	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.15870	0.002;0.014	T	0.46205	-0.9208	10	0.02654	T	1	.	7.4339	0.27143	0.0:0.4956:0.2222:0.2822	.	376;376	E7EU74;Q8N6C8	.;LIRA3_HUMAN	Y	376;312;393	ENSP00000251390:H376Y;ENSP00000375624:H312Y;ENSP00000375625:H393Y	ENSP00000251390:H376Y	H	-	1	0	LILRA3	59493874	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.733000	0.00380	-1.190000	0.02698	-0.282000	0.10007	CAT		0.577	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1				33	103	0	0	0	0.059317	0	33	103		
TTYH1	57348	broad.mit.edu	37	19	54932504	54932504	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:54932504C>G	ENST00000376530.3	+	3	462	c.359C>G	c.(358-360)tCc>tGc	p.S120C	TTYH1_ENST00000391739.3_Missense_Mutation_p.S169C|TTYH1_ENST00000301194.4_Missense_Mutation_p.S120C|TTYH1_ENST00000376531.3_Missense_Mutation_p.S120C	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	120					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)	p.S120C(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GATGGGGTGTCCCAGCTCAGC	0.627																																						uc002qfq.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(358-360)TCC>TGC		tweety 1 isoform 1							127.0	103.0	111.0					19																	54932504		2203	4300	6503	SO:0001583	missense	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54932504C>G	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.359C>G	19.37:g.54932504C>G	ENSP00000365713:p.Ser120Cys					TTYH1_uc010yey.1_Missense_Mutation_p.S169C|TTYH1_uc002qfr.2_Missense_Mutation_p.S120C|TTYH1_uc002qft.2_Missense_Mutation_p.S120C|TTYH1_uc002qfu.1_Missense_Mutation_p.S35C	p.S120C	NM_020659	NP_065710	Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	3	451	+	Ovarian(34;0.19)		120			Extracellular (Potential).		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	ENST00000376530.3	37	c.359C>G	CCDS12893.1	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333745	0.60853	.	.	ENSG00000167614	ENST00000444661;ENST00000423529;ENST00000301194;ENST00000376530;ENST00000445095;ENST00000391739;ENST00000376531	T;T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71;2.71	3.75	3.75	0.43078	.	0.158012	0.44483	D	0.000452	T	0.28267	0.0698	L	0.56769	1.78	0.34440	D	0.699467	D;D;D;D;P	0.76494	0.999;0.996;0.986;0.996;0.896	D;P;P;P;P	0.72982	0.979;0.896;0.853;0.896;0.866	T	0.28681	-1.0036	10	0.39692	T	0.17	-20.3928	9.3217	0.37968	0.2149:0.7851:0.0:0.0	.	169;35;120;120;120	B7Z1H9;Q9H313-5;Q9H313-2;Q9H313-3;Q9H313	.;.;.;.;TTYH1_HUMAN	C	92;116;120;120;169;169;120	ENSP00000391282:S116C;ENSP00000301194:S120C;ENSP00000365713:S120C;ENSP00000393592:S169C;ENSP00000375619:S169C;ENSP00000365714:S120C	ENSP00000301194:S120C	S	+	2	0	TTYH1	59624316	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.638000	0.61353	2.021000	0.59480	0.655000	0.94253	TCC		0.627	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1				10	60	0	0	0	0.058154	0	10	60		
NLRP9	338321	broad.mit.edu	37	19	56243927	56243927	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:56243927C>G	ENST00000332836.2	-	2	1297	c.1270G>C	c.(1270-1272)Gag>Cag	p.E424Q		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	424	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.E424Q(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATCACGCCCTCAGACTCAGAT	0.483																																						uc002qly.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(4)|ovary(2)|breast(1)	7						c.(1270-1272)GAG>CAG		NLR family, pyrin domain containing 9							96.0	97.0	97.0					19																	56243927		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56243927C>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1270G>C	19.37:g.56243927C>G	ENSP00000331857:p.Glu424Gln						p.E424Q	NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	2	1298	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	424			NACHT.		B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.1270G>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335451	0.24253	.	.	ENSG00000185792	ENST00000332836;ENST00000333452	D	0.84589	-1.87	2.56	0.318	0.15867	.	.	.	.	.	T	0.78648	0.4316	L	0.41573	1.285	0.09310	N	1	P	0.40794	0.729	B	0.42555	0.391	T	0.68375	-0.5425	9	0.72032	D	0.01	.	5.5418	0.17041	0.0:0.6677:0.2051:0.1273	.	424	Q7RTR0	NALP9_HUMAN	Q	424	ENSP00000331857:E424Q	ENSP00000331857:E424Q	E	-	1	0	NLRP9	60935739	0.003000	0.15002	0.002000	0.10522	0.014000	0.08584	-0.545000	0.06069	0.176000	0.19873	0.644000	0.83932	GAG		0.483	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1		NM_176820		49	187	0	0	0	0.139131	0	49	187		
ZNF582	147948	broad.mit.edu	37	19	56895710	56895710	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:56895710C>T	ENST00000301310.4	-	5	1234	c.1076G>A	c.(1075-1077)aGa>aAa	p.R359K	ZNF582_ENST00000586929.1_Missense_Mutation_p.R359K	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R359K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		GGTATGAATTCTCTGATGTCG	0.418																																					Ovarian(183;1887 2032 4349 30507 51343)	uc002qmz.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|large_intestine(1)	4						c.(1075-1077)AGA>AAA		zinc finger protein 582							89.0	90.0	90.0					19																	56895710		2203	4300	6503	SO:0001583	missense	147948				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56895710C>T	AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1076G>A	19.37:g.56895710C>T	ENSP00000301310:p.Arg359Lys					ZNF582_uc002qmy.2_Missense_Mutation_p.R390K	p.R359K	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN		GBM - Glioblastoma multiforme(193;0.0547)	5	1235	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	359			C2H2-type 7.		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	SNP	ENST00000301310.4	37	c.1076G>A	CCDS33121.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732231	0.30684	.	.	ENSG00000018869	ENST00000301310	T	0.18338	2.22	4.49	3.46	0.39613	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001566	T	0.20088	0.0483	N	0.12527	0.23	0.23162	N	0.9982	D;D	0.76494	0.973;0.999	P;D	0.85130	0.58;0.997	T	0.03608	-1.1020	10	0.42905	T	0.14	.	8.4171	0.32678	0.0:0.8182:0.0:0.1818	.	359;390	Q96NG8;B4DQZ9	ZN582_HUMAN;.	K	359	ENSP00000301310:R359K	ENSP00000301310:R359K	R	-	2	0	ZNF582	61587522	0.008000	0.16893	0.392000	0.26245	0.025000	0.11179	2.406000	0.44557	1.249000	0.43950	0.655000	0.94253	AGA		0.418	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458387.2		NM_144690		25	193	0	0	0	0.083992	0	25	193		
ZNF418	147686	broad.mit.edu	37	19	58438051	58438051	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:58438051G>A	ENST00000396147.1	-	4	1789	c.1498C>T	c.(1498-1500)Cat>Tat	p.H500Y	ZNF418_ENST00000425570.3_Missense_Mutation_p.H521Y|ZNF418_ENST00000599852.1_Missense_Mutation_p.H415Y|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000595830.1_Missense_Mutation_p.H500Y	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H500Y(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACTCTCTGATGAACACGAAAC	0.448																																						uc002qqs.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1498-1500)CAT>TAT		zinc finger protein 418							136.0	138.0	137.0					19																	58438051		2199	4299	6498	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58438051G>A	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1498C>T	19.37:g.58438051G>A	ENSP00000379451:p.His500Tyr					ZNF418_uc010yhn.1_RNA|ZNF418_uc010yho.1_Missense_Mutation_p.H415Y	p.H500Y	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	1790	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	500			C2H2-type 11.		Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1498C>T	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	15.31	2.795105	0.50208	.	.	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	D;D	0.86769	-2.17;-2.17	2.42	1.3	0.21679	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92289	0.7554	H	0.96301	3.8	0.26255	N	0.978668	D	0.54772	0.968	P	0.50231	0.635	D	0.85282	0.1062	9	0.87932	D	0	.	8.5148	0.33239	0.1299:0.0:0.8701:0.0	.	500	Q8TF45	ZN418_HUMAN	Y	500;521;466	ENSP00000379451:H500Y;ENSP00000407039:H521Y	ENSP00000379451:H500Y	H	-	1	0	ZNF418	63129863	0.994000	0.37717	0.001000	0.08648	0.011000	0.07611	2.620000	0.46410	0.324000	0.23333	0.467000	0.42956	CAT		0.448	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1		NM_133460		150	94	0	0	0	0.139131	0	150	94		
ZBTB45	84878	broad.mit.edu	37	19	59028353	59028353	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr19:59028353C>T	ENST00000594051.1	-	2	1168	c.688G>A	c.(688-690)Gag>Aag	p.E230K	ZBTB45_ENST00000354590.3_Missense_Mutation_p.E230K|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E230K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	230					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E230K(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCCTGGCCCTCGCCTGGGCCG	0.672											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(164;1383 2017 5233 27540 46677)	uc002qtd.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(688-690)GAG>AAG		zinc finger and BTB domain containing 45							178.0	186.0	184.0					19																	59028353		2201	4300	6501	SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028353C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.688G>A	19.37:g.59028353C>T	ENSP00000469089:p.Glu230Lys		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_uc002qte.2_Missense_Mutation_p.E230K|ZBTB45_uc002qtf.2_Missense_Mutation_p.E230K	p.E230K	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	980	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	230						Missense_Mutation	SNP	ENST00000594051.1	37	c.688G>A	CCDS12984.1	.	.	.	.	.	.	.	.	.	.	c	18.35	3.604032	0.66445	.	.	ENSG00000119574	ENST00000354590	T	0.08458	3.09	3.13	3.13	0.36017	.	0.557860	0.15694	N	0.249245	T	0.06234	0.0161	N	0.19112	0.55	0.33878	D	0.635783	D	0.57899	0.981	B	0.42555	0.391	T	0.41233	-0.9520	10	0.27082	T	0.32	.	12.5022	0.55962	0.0:1.0:0.0:0.0	.	230	Q96K62	ZBT45_HUMAN	K	230	ENSP00000346603:E230K	ENSP00000346603:E230K	E	-	1	0	ZBTB45	63720165	0.001000	0.12720	0.883000	0.34634	0.701000	0.40568	0.916000	0.28651	2.070000	0.61991	0.467000	0.42956	GAG		0.672	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1		NM_032792		51	270	0	0	0	0.139131	0	51	270		
NTSR2	23620	broad.mit.edu	37	2	11798719	11798719	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:11798719G>A	ENST00000306928.5	-	4	1153	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	373					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.V373V(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	ACAGGGAGCTGACGGCTTCCA	0.562																																						uc002rbq.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1117-1119)GTC>GTT		neurotensin receptor 2	Levocabastine(DB01106)						81.0	83.0	82.0					2																	11798719		2203	4300	6503	SO:0001819	synonymous_variant	23620				sensory perception	integral to plasma membrane		g.chr2:11798719G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1119C>T	2.37:g.11798719G>A							p.V373V	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	4	1193	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		373			Cytoplasmic (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Silent	SNP	ENST00000306928.5	37	c.1119C>T	CCDS1681.1																																																																																				0.562	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1				21	66	0	0	0	0.083992	0	21	66		
APOB	338	broad.mit.edu	37	2	21233133	21233133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:21233133C>G	ENST00000233242.1	-	26	6734	c.6607G>C	c.(6607-6609)Gat>Cat	p.D2203H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2203					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.D2203H(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGATTTCATCAATAATATTA	0.239																																						uc002red.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(6607-6609)GAT>CAT		apolipoprotein B precursor	Atorvastatin(DB01076)						29.0	31.0	31.0					2																	21233133		2176	4270	6446	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21233133C>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6607G>C	2.37:g.21233133C>G	ENSP00000233242:p.Asp2203His						p.D2203H	NM_000384	NP_000375	P04114	APOB_HUMAN			26	6735	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2203					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.6607G>C	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.650393	0.29336	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00776	5.71	5.76	4.7	0.59300	.	0.090693	0.47093	D	0.000252	T	0.02156	0.0067	M	0.73962	2.25	0.24505	N	0.994234	D	0.57571	0.98	P	0.50231	0.635	T	0.32052	-0.9921	10	0.72032	D	0.01	.	11.1582	0.48499	0.0:0.7913:0.1315:0.0772	.	2203	P04114	APOB_HUMAN	H	2203	ENSP00000233242:D2203H	ENSP00000233242:D2203H	D	-	1	0	APOB	21086638	0.997000	0.39634	0.996000	0.52242	0.676000	0.39594	1.053000	0.30442	2.715000	0.92844	0.561000	0.74099	GAT		0.239	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1				24	56	0	0	0	0.076483	0	24	56		
CAD	790	broad.mit.edu	37	2	27460592	27460592	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:27460592G>A	ENST00000403525.1	+	28	4525	c.4381G>A	c.(4381-4383)Gag>Aag	p.E1461K	CAD_ENST00000264705.4_Missense_Mutation_p.E1524K			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E1524K(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCTGGCAGAGGCTGGCGC	0.647																																						uc002rji.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(4570-4572)GAG>AAG		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						38.0	43.0	41.0					2																	27460592		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27460592G>A	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4381G>A	2.37:g.27460592G>A	ENSP00000384510:p.Glu1461Lys					CAD_uc010eyw.2_Missense_Mutation_p.E1461K	p.E1524K	NM_004341	NP_004332	P27708	PYR1_HUMAN			29	4732	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1524			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.4570G>A		.	.	.	.	.	.	.	.	.	.	G	8.638	0.895187	0.17613	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	T;T	0.49139	0.79;0.79	4.75	4.75	0.60458	Amidohydrolase 1 (1);	0.206074	0.50627	D	0.000120	T	0.23846	0.0577	N	0.04162	-0.26	0.41784	D	0.989836	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.17319	-1.0373	10	0.02654	T	1	-7.667	16.3335	0.83051	0.0:0.0:1.0:0.0	.	1461;1524	F8VPD4;P27708	.;PYR1_HUMAN	K	1524;1461	ENSP00000264705:E1524K;ENSP00000384510:E1461K	ENSP00000264705:E1524K	E	+	1	0	CAD	27314096	1.000000	0.71417	0.993000	0.49108	0.866000	0.49608	4.590000	0.61013	2.176000	0.68965	0.555000	0.69702	GAG		0.647	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1				12	32	0	0	0	0.09319	0	12	32		
SRBD1	55133	broad.mit.edu	37	2	45826690	45826690	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:45826690C>G	ENST00000263736.4	-	4	608	c.546G>C	c.(544-546)aaG>aaC	p.K182N		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	182					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.K182N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTTGATTTTCTTTAAAGCGG	0.443																																						uc002rus.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(1)	1						c.(544-546)AAG>AAC		S1 RNA binding domain 1							263.0	251.0	255.0					2																	45826690		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45826690C>G	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.546G>C	2.37:g.45826690C>G	ENSP00000263736:p.Lys182Asn						p.K182N	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		4	622	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	182					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.546G>C	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392489	0.42410	.	.	ENSG00000068784	ENST00000263736	T	0.31247	1.5	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000005	T	0.42177	0.1191	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.29822	-0.9999	10	0.87932	D	0	.	11.0668	0.47980	0.0:0.9161:0.0:0.0839	.	182	Q8N5C6	SRBD1_HUMAN	N	182	ENSP00000263736:K182N	ENSP00000263736:K182N	K	-	3	2	SRBD1	45680194	1.000000	0.71417	1.000000	0.80357	0.052000	0.14988	1.248000	0.32827	2.773000	0.95371	0.585000	0.79938	AAG		0.443	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3		NM_018079		56	254	0	0	0	0.139131	0	56	254		
FSHR	2492	broad.mit.edu	37	2	49244635	49244635	+	Nonsense_Mutation	SNP	G	G	A	rs138079934	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:49244635G>A	ENST00000406846.2	-	4	486	c.367C>T	c.(367-369)Caa>Taa	p.Q123*	FSHR_ENST00000346173.3_Nonsense_Mutation_p.Q123*|FSHR_ENST00000304421.4_Nonsense_Mutation_p.Q123*	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	123					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.Q123*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TACAGATATTGAAGGTTGGGA	0.398									Gonadal Dysgenesis, 46 XX																													uc002rww.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(367-369)CAA>TAA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						128.0	119.0	122.0					2																	49244635		2203	4300	6503	SO:0001587	stop_gained	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49244635G>A		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.367C>T	2.37:g.49244635G>A	ENSP00000384708:p.Gln123*					FSHR_uc002rwx.2_Nonsense_Mutation_p.Q123*|FSHR_uc010fbn.2_Nonsense_Mutation_p.Q123*|FSHR_uc010fbo.1_RNA	p.Q123*	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		4	441	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	123			Extracellular (Potential).|LRR 4.		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Nonsense_Mutation	SNP	ENST00000406846.2	37	c.367C>T	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501309	0.96371	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	.	.	.	5.17	4.29	0.51040	.	0.378699	0.24920	N	0.034541	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1321	0.48354	0.0:0.0:0.8171:0.1829	.	.	.	.	X	123	.	.	Q	-	1	0	FSHR	49098139	0.986000	0.35501	1.000000	0.80357	0.965000	0.64279	2.589000	0.46145	1.371000	0.46172	0.655000	0.94253	CAA		0.398	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2				14	52	0	0	0	0.105934	0	14	52		
SPTBN1	6711	broad.mit.edu	37	2	54874297	54874297	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:54874297G>A	ENST00000356805.4	+	24	5177	c.4896G>A	c.(4894-4896)aaG>aaA	p.K1632K	SPTBN1_ENST00000333896.5_Silent_p.K1619K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1632	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.K1632K(1)|p.K1619K(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCATGTTGAAGAAGCACCAGA	0.552																																						uc002rxu.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(4894-4896)AAG>AAA		spectrin, beta, non-erythrocytic 1 isoform 1							108.0	97.0	101.0					2																	54874297		2203	4300	6503	SO:0001819	synonymous_variant	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54874297G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4896G>A	2.37:g.54874297G>A						SPTBN1_uc002rxx.2_Silent_p.K1619K	p.K1632K	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		24	5145	+			1632			Interaction with ANK2.|Spectrin 13.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	c.4896G>A	CCDS33198.1																																																																																				0.552	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3				25	89	0	0	0	0.0918	0	25	89		
LOXL3	84695	broad.mit.edu	37	2	74779555	74779555	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:74779555G>A	ENST00000264094.3	-	2	278	c.207C>T	c.(205-207)atC>atT	p.I69I	DOK1_ENST00000340004.6_5'Flank|LOXL3_ENST00000484369.1_5'UTR|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Silent_p.I69I|DOK1_ENST00000233668.5_5'Flank|LOXL3_ENST00000409249.1_Silent_p.I69I|LOXL3_ENST00000393937.2_Silent_p.I69I|LOXL3_ENST00000409986.1_Silent_p.I69I	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	69	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.I69I(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CATCATCGCAGATGGTGCCCC	0.652																																						uc002smp.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(205-207)ATC>ATT		lysyl oxidase-like 3 precursor							43.0	41.0	42.0					2																	74779555		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74779555G>A	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.207C>T	2.37:g.74779555G>A						LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Silent_p.I69I|LOXL3_uc002smq.1_Silent_p.I69I|LOXL3_uc010ffn.1_Silent_p.I69I|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank	p.I69I	NM_032603	NP_115992	P58215	LOXL3_HUMAN			2	279	-			69			SRCR 1.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.207C>T	CCDS1953.1																																																																																				0.652	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1		NM_032603		21	46	0	0	0	0.069288	0	21	46		
LMAN2L	81562	broad.mit.edu	37	2	97373526	97373526	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:97373526C>G	ENST00000264963.4	-	7	851	c.829G>C	c.(829-831)Gag>Cag	p.E277Q	LMAN2L_ENST00000426463.2_Missense_Mutation_p.E143Q|LMAN2L_ENST00000537039.1_Missense_Mutation_p.E139Q|LMAN2L_ENST00000534882.1_Missense_Mutation_p.E132Q|LMAN2L_ENST00000377079.4_Missense_Mutation_p.E288Q|FER1L5_ENST00000457909.1_RNA	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	277					ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.E277Q(1)		NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						GGGGTTCTCTCCACTGTCAGT	0.453																																						uc002swu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(829-831)GAG>CAG		lectin, mannose-binding 2-like isoform 2							112.0	111.0	111.0					2																	97373526		2203	4300	6503	SO:0001583	missense	81562				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding	g.chr2:97373526C>G	AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.829G>C	2.37:g.97373526C>G	ENSP00000264963:p.Glu277Gln					LMAN2L_uc002swv.2_Missense_Mutation_p.E288Q|LMAN2L_uc010yut.1_Missense_Mutation_p.E143Q|LMAN2L_uc010yuu.1_Missense_Mutation_p.E141Q|LMAN2L_uc010yuv.1_Missense_Mutation_p.E130Q|LMAN2L_uc010yuw.1_Missense_Mutation_p.E132Q|LMAN2L_uc002sww.2_Missense_Mutation_p.E130Q|LMAN2L_uc010yux.1_Missense_Mutation_p.E132Q	p.E277Q	NM_030805	NP_110432	Q9H0V9	LMA2L_HUMAN			7	865	-			277			Lumenal (Potential).		B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Missense_Mutation	SNP	ENST00000264963.4	37	c.829G>C	CCDS2023.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720193	0.30503	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.78126	0.83;0.83;-1.15;-1.12;-1.14	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase, subgroup (1);	0.346143	0.29558	N	0.011804	T	0.71239	0.3316	L	0.41824	1.3	0.40755	D	0.98295	B;B;B;B;B	0.11235	0.004;0.003;0.002;0.001;0.002	B;B;B;B;B	0.11329	0.002;0.006;0.004;0.002;0.004	T	0.65413	-0.6174	10	0.18710	T	0.47	.	18.4328	0.90632	0.0:1.0:0.0:0.0	.	132;150;143;288;277	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	Q	277;288;143;139;132	ENSP00000264963:E277Q;ENSP00000366280:E288Q;ENSP00000396391:E143Q;ENSP00000441701:E139Q;ENSP00000438501:E132Q	ENSP00000264963:E277Q	E	-	1	0	LMAN2L	96737253	1.000000	0.71417	0.990000	0.47175	0.788000	0.44548	2.764000	0.47613	2.633000	0.89246	0.655000	0.94253	GAG		0.453	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252844.1		NM_030805		40	109	0	0	0	0.086207	0	40	109		
RGPD4	285190	broad.mit.edu	37	2	108488568	108488568	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:108488568G>C	ENST00000408999.3	+	20	4185	c.4108G>C	c.(4108-4110)Gat>Cat	p.D1370H	RGPD4_ENST00000354986.4_Missense_Mutation_p.D1370H	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1370	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)			p.D1370H(1)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATATGATAAAGATGTTGGTCA	0.358																																						uc010ywk.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)	2						c.(4108-4110)GAT>CAT		RANBP2-like and GRIP domain containing 4							7.0	6.0	7.0					2																	108488568		670	1515	2185	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108488568G>C	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4108G>C	2.37:g.108488568G>C	ENSP00000386810:p.Asp1370His					RGPD4_uc002tdu.2_Missense_Mutation_p.D557H|RGPD4_uc010ywl.1_Intron	p.D1370H	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN			20	4190	+			1370			RanBD1 2.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.4108G>C	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	8.647	0.897410	0.17686	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.48522	0.81;0.81	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.66307	0.2776	M	0.88310	2.945	0.25677	N	0.985834	P	0.45902	0.868	P	0.54401	0.751	T	0.59091	-0.7519	9	0.72032	D	0.01	-36.6979	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1370	Q7Z3J3	RGPD4_HUMAN	H	1370	ENSP00000347081:D1370H;ENSP00000386810:D1370H	ENSP00000347081:D1370H	D	+	1	0	RGPD4	107855000	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	6.335000	0.72949	1.303000	0.44873	0.162000	0.16502	GAT		0.358	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2		XM_496581		6	373	0	0	0	0.02938	0	6	373		
GCC2	9648	broad.mit.edu	37	2	109100719	109100719	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:109100719G>A	ENST00000309863.6	+	13	4279	c.3565G>A	c.(3565-3567)Gaa>Aaa	p.E1189K		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1189					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.E1189K(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTGGAGCAAGAAATAAAAAT	0.254																																						uc002tec.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(3565-3567)GAA>AAA		GRIP and coiled-coil domain-containing 2							38.0	40.0	39.0					2																	109100719		2199	4294	6493	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109100719G>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3565G>A	2.37:g.109100719G>A	ENSP00000307939:p.Glu1189Lys					GCC2_uc002ted.2_Missense_Mutation_p.E1088K	p.E1189K	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			13	3719	+			1189			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3565G>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.814816	0.90790	.	.	ENSG00000135968	ENST00000309863	T	0.34275	1.37	5.98	5.98	0.97165	.	0.061350	0.64402	D	0.000003	T	0.61160	0.2325	M	0.69823	2.125	0.47214	D	0.999356	D	0.76494	0.999	D	0.77004	0.989	T	0.51403	-0.8710	10	0.27082	T	0.32	.	20.452	0.99131	0.0:0.0:1.0:0.0	.	1189	Q8IWJ2	GCC2_HUMAN	K	1189	ENSP00000307939:E1189K	ENSP00000307939:E1189K	E	+	1	0	GCC2	108467151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.072000	0.71238	2.838000	0.97847	0.591000	0.81541	GAA		0.254	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635		21	50	0	0	0	0.049695	0	21	50		
DDX18	8886	broad.mit.edu	37	2	118582552	118582552	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:118582552C>T	ENST00000263239.2	+	9	1371	c.1243C>T	c.(1243-1245)Ctg>Ttg	p.L415L		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	415	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)	p.L415L(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAGATTCCTTCTGCTCTTTAC	0.368																																						uc002tlh.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(2)|ovary(1)|lung(1)	4						c.(1243-1245)CTG>TTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 18							116.0	111.0	113.0					2																	118582552		2203	4300	6503	SO:0001819	synonymous_variant	8886						ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr2:118582552C>T	X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1243C>T	2.37:g.118582552C>T							p.L415L	NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN			9	1342	+			415			Helicase C-terminal.		Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Silent	SNP	ENST00000263239.2	37	c.1243C>T	CCDS2120.1																																																																																				0.368	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129632.3		NM_006773		40	138	0	0	0	0.074837	0	40	138		
SCTR	6344	broad.mit.edu	37	2	120194518	120194518	+	IGR	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:120194518C>T	ENST00000019103.5	-	0	1865				TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_Silent_p.F25F|TMEM37_ENST00000409826.1_Silent_p.F37F	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.F25F(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TTGAATCCTTCATCCGGACCC	0.617																																						uc002tly.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	breast(1)	1						c.(73-75)TTC>TTT		transmembrane protein 37							72.0	72.0	72.0					2																	120194518		2203	4300	6503	SO:0001628	intergenic_variant	140738					integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr2:120194518C>T		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194518C>T							p.F25F	NM_183240	NP_899063	Q8WXS4	CCGL_HUMAN			2	109	+			25			Helical; (Potential).		Q12961|Q13213|Q53T00	Silent	SNP	ENST00000019103.5	37	c.75C>T	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756691	0.31137	.	.	ENSG00000171227	ENST00000417645	.	.	.	4.93	1.12	0.20585	.	.	.	.	.	T	0.63733	0.2536	.	.	.	0.49051	D	0.999742	.	.	.	.	.	.	T	0.63125	-0.6707	5	0.87932	D	0	-17.2497	9.3493	0.38129	0.0:0.7133:0.0:0.2867	.	.	.	.	L	31	.	ENSP00000400770:S31L	S	+	2	0	TMEM37	119910988	0.248000	0.23930	0.753000	0.31225	0.947000	0.59692	-0.290000	0.08354	0.029000	0.15352	0.655000	0.94253	TCA		0.617	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2				37	57	0	0	0	0.064281	0	37	57		
RAB3GAP1	22930	broad.mit.edu	37	2	135883809	135883809	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:135883809G>A	ENST00000264158.8	+	10	932	c.889G>A	c.(889-891)Gat>Aat	p.D297N	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.D253N|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.D297N	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	297					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.D297N(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TGTGGATAATGATGTTTATTC	0.308																																						uc002tuj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(889-891)GAT>AAT		RAB3 GTPase-activating protein							115.0	115.0	115.0					2																	135883809		2203	4295	6498	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135883809G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.889G>A	2.37:g.135883809G>A	ENSP00000264158:p.Asp297Asn					RAB3GAP1_uc010fnf.2_Missense_Mutation_p.D297N|RAB3GAP1_uc010fng.2_Missense_Mutation_p.D122N|RAB3GAP1_uc010fnh.1_RNA	p.D297N	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	10	914	+			297					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.889G>A	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779655	0.90195	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.64991	-0.13;-0.13;-0.13	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	N	0.25890	0.77	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.61874	0.895;0.895	T	0.60875	-0.7176	10	0.19147	T	0.46	-14.9218	19.0756	0.93159	0.0:0.0:1.0:0.0	.	297;297	C9J837;Q15042	.;RB3GP_HUMAN	N	297;253;297	ENSP00000264158:D297N;ENSP00000444306:D253N;ENSP00000411418:D297N	ENSP00000264158:D297N	D	+	1	0	RAB3GAP1	135600279	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.778000	0.99011	2.494000	0.84150	0.591000	0.81541	GAT		0.308	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2		NM_012233		28	86	0	0	0	0.116897	0	28	86		
NEB	4703	broad.mit.edu	37	2	152349881	152349881	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:152349881C>T	ENST00000172853.10	-	143	19330	c.19183G>A	c.(19183-19185)Gaa>Aaa	p.E6395K	NEB_ENST00000409198.1_Missense_Mutation_p.E6395K|NEB_ENST00000604864.1_Missense_Mutation_p.E8251K|RIF1_ENST00000457745.1_Intron|NEB_ENST00000397336.2_Missense_Mutation_p.E226K|NEB_ENST00000603639.1_Missense_Mutation_p.E8251K|NEB_ENST00000397345.3_Missense_Mutation_p.E8251K|NEB_ENST00000509223.2_Missense_Mutation_p.E164K|NEB_ENST00000498015.2_Intron|NEB_ENST00000427231.2_Missense_Mutation_p.E8251K			P20929	NEBU_HUMAN	nebulin	6395					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.E6395*(1)|p.E6395K(1)|p.E8251K(1)|p.E8251*(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTAATGTTTTCTTGGTTGCGC	0.383																																						uc010fnx.2		NaN																	4	Substitution - Nonsense(2)|Substitution - Missense(2)		urinary_tract(2)|large_intestine(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(19183-19185)GAA>AAA		nebulin isoform 3							121.0	109.0	113.0					2																	152349881		1848	4101	5949	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152349881C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19183G>A	2.37:g.152349881C>T	ENSP00000172853:p.Glu6395Lys					NEB_uc002txr.2_Intron|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Missense_Mutation_p.E164K|NEB_uc002txq.2_Missense_Mutation_p.E274K|NEB_uc010zca.1_Missense_Mutation_p.E226K|NEB_uc010zcb.1_Missense_Mutation_p.E164K	p.E6395K	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	143	19374	-			6395			Nebulin 176.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.19183G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.95|15.95	2.982616|2.982616	0.53827|0.53827	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000397336;ENST00000509223|ENST00000421461	T;T;T;T;T;T|.	0.42513|.	0.97;0.97;0.97;0.97;0.97;0.97|.	5.98|5.98	5.09|5.09	0.68999|0.68999	.|.	0.454150|.	0.23658|.	N|.	0.045858|.	T|T	0.56140|0.56140	0.1965|0.1965	L|L	0.29908|0.29908	0.895|0.895	0.46279|0.46279	D|D	0.998961|0.998961	P;P;B;D;D|.	0.76494|.	0.846;0.623;0.106;0.999;0.999|.	P;P;B;D;D|.	0.73708|.	0.759;0.587;0.129;0.981;0.968|.	T|T	0.52328|0.52328	-0.8590|-0.8590	10|5	0.45353|.	T|.	0.12|.	.|.	16.8063|16.8063	0.85706|0.85706	0.0:0.8709:0.1291:0.0|0.0:0.8709:0.1291:0.0	.|.	164;226;164;6395;8251|.	B7Z6B9;B7Z6P9;B7Z6N8;P20929;F8WCL5|.	.;.;.;NEBU_HUMAN;.|.	K|K	6395;8251;8251;6395;226;164|396	ENSP00000386259:E6395K;ENSP00000380505:E8251K;ENSP00000416578:E8251K;ENSP00000172853:E6395K;ENSP00000380497:E226K;ENSP00000427083:E164K|.	ENSP00000172853:E6395K|.	E|R	-|-	1|2	0|0	NEB|NEB	152058127|152058127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.332000|3.332000	0.52083|0.52083	1.513000|1.513000	0.48852|0.48852	0.655000|0.655000	0.94253|0.94253	GAA|AGA		0.383	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543		14	40	0	0	0	0.132662	0	14	40		
NOSTRIN	115677	broad.mit.edu	37	2	169717349	169717349	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:169717349G>A	ENST00000317647.7	+	14	1453	c.1224G>A	c.(1222-1224)atG>atA	p.M408I	NOSTRIN_ENST00000397209.2_Missense_Mutation_p.M380I|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.M330I|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.M465I|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.M330I|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.M380I|NOSTRIN_ENST00000444448.2_Missense_Mutation_p.M465I	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	408					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)	p.M465I(1)|p.M408I(1)		kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						CTTTTTTAATGAAGAGATTAG	0.378																																						uc002ueg.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(1222-1224)ATG>ATA		nitric oxide synthase trafficker isoform 2							104.0	97.0	99.0					2																	169717349		1846	4084	5930	SO:0001583	missense	115677				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding	g.chr2:169717349G>A	AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.1224G>A	2.37:g.169717349G>A	ENSP00000318921:p.Met408Ile					NOSTRIN_uc002uef.2_Missense_Mutation_p.M465I|NOSTRIN_uc002uei.2_Missense_Mutation_p.M291I|NOSTRIN_uc010fpu.2_Missense_Mutation_p.M380I|NOSTRIN_uc002ueh.2_Missense_Mutation_p.M330I|NOSTRIN_uc002uej.2_Missense_Mutation_p.M291I|NOSTRIN_uc002uek.2_Missense_Mutation_p.M92I	p.M408I	NM_001039724	NP_001034813	Q8IVI9	NOSTN_HUMAN			14	1228	+			408					A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Missense_Mutation	SNP	ENST00000317647.7	37	c.1224G>A	CCDS42771.1	.	.	.	.	.	.	.	.	.	.	G	0.181	-1.062285	0.01950	.	.	ENSG00000163072	ENST00000458381;ENST00000444448;ENST00000317647;ENST00000445023;ENST00000397206;ENST00000397209;ENST00000421711	T;T;T;T;T;T;T	0.36520	1.46;1.46;1.25;1.45;1.45;1.45;1.45	5.8	-1.28	0.09318	Src homology-3 domain (1);	0.807093	0.12061	N	0.503195	T	0.19685	0.0473	N	0.25144	0.715	0.45261	D	0.998261	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.0;0.001	T	0.07501	-1.0769	10	0.37606	T	0.19	0.0466	5.0689	0.14596	0.4177:0.0:0.4458:0.1365	.	380;330;465;302;408;465	Q8IVI9-2;Q8IVI9-3;B3KSF5;D3DPB9;Q8IVI9;E7EPT9	.;.;.;.;NOSTN_HUMAN;.	I	465;465;408;330;330;380;380	ENSP00000402140:M465I;ENSP00000394051:M465I;ENSP00000318921:M408I;ENSP00000404413:M330I;ENSP00000380390:M330I;ENSP00000380392:M380I;ENSP00000401316:M380I	ENSP00000318921:M408I	M	+	3	0	NOSTRIN	169425595	0.419000	0.25449	0.116000	0.21606	0.399000	0.30720	0.322000	0.19576	-0.024000	0.13941	0.650000	0.86243	ATG		0.378	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333356.4		NM_052946		26	75	0	0	0	0.108266	0	26	75		
TTN	7273	broad.mit.edu	37	2	179440567	179440567	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179440567C>G	ENST00000591111.1	-	276	65593	c.65369G>C	c.(65368-65370)aGa>aCa	p.R21790T	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R23431T|TTN_ENST00000342992.6_Missense_Mutation_p.R20863T|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R14366T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14491T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14558T|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21790	Ig-like 114.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R14558T(1)|p.R14491T(1)|p.R14366T(1)|p.R20863T(1)|p.R20861T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCAAGACTCTGACGTTCAC	0.502																																						uc010zfg.1		NaN																	5	Substitution - Missense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(62587-62589)AGA>ACA		titin isoform N2-A							99.0	108.0	105.0					2																	179440567		2094	4237	6331	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179440567C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65369G>C	2.37:g.179440567C>G	ENSP00000465570:p.Arg21790Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R14558T|TTN_uc010zfi.1_Missense_Mutation_p.R14491T|TTN_uc010zfj.1_Missense_Mutation_p.R14366T|uc002umv.1_5'Flank	p.R20863T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	62812	-			21790					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.62588G>C		.	.	.	.	.	.	.	.	.	.	C	9.166	1.019932	0.19355	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.76	2.95	0.34219	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42607	0.1210	N	0.16130	0.375	0.29213	N	0.874452	B;B;B;B	0.31459	0.324;0.181;0.181;0.324	B;B;B;B	0.34038	0.174;0.051;0.051;0.174	T	0.43893	-0.9363	9	0.87932	D	0	.	4.49	0.11808	0.151:0.5374:0.0:0.3116	.	14366;14491;14558;21790	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	20863;14366;14558;14491;14364	ENSP00000343764:R20863T;ENSP00000434586:R14366T;ENSP00000340554:R14558T;ENSP00000352154:R14491T	ENSP00000340554:R14558T	R	-	2	0	TTN	179148813	1.000000	0.71417	0.996000	0.52242	0.990000	0.78478	1.504000	0.35726	0.774000	0.33427	0.655000	0.94253	AGA		0.502	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		48	131	0	0	0	0.139131	0	48	131		
TTN	7273	broad.mit.edu	37	2	179481949	179481949	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179481949C>A	ENST00000591111.1	-	205	43074	c.42850G>T	c.(42850-42852)Gaa>Taa	p.E14284*	TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E15925*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E13357*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.E6860*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E6985*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E7052*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14284	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E13357*(2)|p.E7052*(1)|p.E6985*(1)|p.E6860*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCCTTTTTCCAATCCGGTA	0.323																																						uc010zfg.1		NaN																	5	Substitution - Nonsense(5)		urinary_tract(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(40069-40071)GAA>TAA		titin isoform N2-A							36.0	33.0	34.0					2																	179481949		1799	4046	5845	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481949C>A	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.42850G>T	2.37:g.179481949C>A	ENSP00000465570:p.Glu14284*					TTN_uc010zfh.1_Nonsense_Mutation_p.E7052*|TTN_uc010zfi.1_Nonsense_Mutation_p.E6985*|TTN_uc010zfj.1_Nonsense_Mutation_p.E6860*	p.E13357*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		204	40293	-			14284					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.40069G>T		.	.	.	.	.	.	.	.	.	.	C	58	30.880217	0.99978	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.03	0.35	0.16037	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.2531	0.31739	0.0:0.2921:0.2512:0.4567	.	.	.	.	X	13357;6860;7052;6985;6860	.	ENSP00000340554:E7052X	E	-	1	0	TTN	179190194	1.000000	0.71417	0.452000	0.26994	0.009000	0.06853	2.593000	0.46180	0.105000	0.17753	-0.951000	0.02657	GAA		0.323	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		3	6	1	0	0.004672	0.115264	0.005088	3	6		
TTN	7273	broad.mit.edu	37	2	179604510	179604510	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179604510C>T	ENST00000591111.1	-	46	12723	c.12499G>A	c.(12499-12501)Gaa>Aaa	p.E4167K	TTN_ENST00000589042.1_Missense_Mutation_p.E4484K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E4121K|TTN_ENST00000359218.5_Missense_Mutation_p.E4246K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4313K|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E4246K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTCTATTTCCTCATATATA	0.378																																						uc010zfh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(12937-12939)GAA>AAA		titin isoform novex-2							180.0	178.0	178.0					2																	179604510		1869	4103	5972	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179604510C>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.12499G>A	2.37:g.179604510C>T	ENSP00000465570:p.Glu4167Lys					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E4246K|TTN_uc010zfj.1_Missense_Mutation_p.E4121K|TTN_uc002umz.1_Intron	p.E4313K	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	13161	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.12937G>A		.	.	.	.	.	.	.	.	.	.	C	10.63	1.403279	0.25291	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.71461	-0.47;-0.56;-0.57	5.56	5.56	0.83823	.	.	.	.	.	T	0.68007	0.2954	L	0.58101	1.795	0.33924	D	0.641206	P;P;P	0.42456	0.78;0.78;0.78	B;B;B	0.38106	0.265;0.265;0.265	T	0.80466	-0.1370	9	0.87932	D	0	.	15.0569	0.71921	0.0:0.8585:0.1415:0.0	.	4121;4246;4313	D3DPF9;E7EQE6;E7ET18	.;.;.	K	4121;4313;4246;4121	ENSP00000434586:E4121K;ENSP00000340554:E4313K;ENSP00000352154:E4246K	ENSP00000340554:E4313K	E	-	1	0	TTN	179312755	1.000000	0.71417	0.999000	0.59377	0.033000	0.12548	4.646000	0.61411	2.632000	0.89209	0.655000	0.94253	GAA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		62	282	0	0	0	0.139131	0	62	282		
TTN	7273	broad.mit.edu	37	2	179605584	179605584	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:179605584C>T	ENST00000591111.1	-	46	11649	c.11425G>A	c.(11425-11427)Gaa>Aaa	p.E3809K	TTN_ENST00000589042.1_Missense_Mutation_p.E4126K|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3763K|TTN_ENST00000359218.5_Missense_Mutation_p.E3888K|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3955K|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E3888K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGCTTTCAGGAGTGAGC	0.448																																						uc010zfh.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11863-11865)GAA>AAA		titin isoform novex-2							147.0	143.0	144.0					2																	179605584		1921	4140	6061	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179605584C>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.11425G>A	2.37:g.179605584C>T	ENSP00000465570:p.Glu3809Lys					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.E3888K|TTN_uc010zfj.1_Missense_Mutation_p.E3763K|TTN_uc002umz.1_Intron	p.E3955K	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	12087	-			3883					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.11863G>A		.	.	.	.	.	.	.	.	.	.	C	14.58	2.576511	0.45902	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.66099	-0.16;-0.17;-0.19	5.19	4.3	0.51218	.	.	.	.	.	T	0.46870	0.1415	N	0.19112	0.55	0.25246	N	0.989712	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.43376	-0.9395	9	0.87932	D	0	.	9.3023	0.37853	0.0:0.7716:0.1519:0.0765	.	3763;3888;3955	D3DPF9;E7EQE6;E7ET18	.;.;.	K	3763;3955;3888;3763	ENSP00000434586:E3763K;ENSP00000340554:E3955K;ENSP00000352154:E3888K	ENSP00000340554:E3955K	E	-	1	0	TTN	179313829	0.994000	0.37717	0.742000	0.31022	0.148000	0.21650	3.492000	0.53259	1.280000	0.44463	0.655000	0.94253	GAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		38	146	0	0	0	0.086207	0	38	146		
DNAH7	56171	broad.mit.edu	37	2	196636429	196636429	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:196636429C>T	ENST00000312428.6	-	61	11488	c.11388G>A	c.(11386-11388)ctG>ctA	p.L3796L	DNAH7_ENST00000409063.1_Silent_p.L279L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3796					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L3796L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTATGGTCTTCAGTAACTTAT	0.383																																						uc002utj.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	skin(10)|ovary(2)	12						c.(11386-11388)CTG>CTA		dynein, axonemal, heavy chain 7							238.0	214.0	221.0					2																	196636429		1901	4138	6039	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196636429C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.11388G>A	2.37:g.196636429C>T						DNAH7_uc002uti.3_Silent_p.L279L	p.L3796L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			61	11489	-			3796					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.11388G>A	CCDS42794.1																																																																																				0.383	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897		71	177	0	0	0	0.139131	0	71	177		
SGOL2	151246	broad.mit.edu	37	2	201437629	201437629	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:201437629G>C	ENST00000357799.4	+	7	2658	c.2560G>C	c.(2560-2562)Gaa>Caa	p.E854Q		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	854					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.E854Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AACAATTTCTGAAAATCTACA	0.308																																						uc002uvw.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)	4						c.(2560-2562)GAA>CAA		shugoshin-like 2 isoform 1							86.0	83.0	84.0					2																	201437629		1803	4067	5870	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201437629G>C	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2560G>C	2.37:g.201437629G>C	ENSP00000350447:p.Glu854Gln					SGOL2_uc010zhd.1_Missense_Mutation_p.E854Q|SGOL2_uc010zhe.1_Missense_Mutation_p.E854Q	p.E854Q	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN			7	2673	+			854					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.2560G>C	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	3.079	-0.189394	0.06299	.	.	ENSG00000163535	ENST00000357799	T	0.15256	2.44	4.7	1.88	0.25563	.	1.113100	0.06908	N	0.807136	T	0.19886	0.0478	L	0.51422	1.61	0.09310	N	1	P;P;P	0.43701	0.782;0.557;0.815	B;B;B	0.43251	0.329;0.219;0.413	T	0.23476	-1.0187	10	0.62326	D	0.03	-1.7722	6.8605	0.24064	0.2946:0.0:0.7054:0.0	.	854;854;854	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	Q	854	ENSP00000350447:E854Q	ENSP00000350447:E854Q	E	+	1	0	SGOL2	201145874	0.095000	0.21747	0.021000	0.16686	0.024000	0.10985	0.766000	0.26560	0.297000	0.22615	0.585000	0.79938	GAA		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1		NM_152524		48	144	0	0	0	0.139131	0	48	144		
INO80D	54891	broad.mit.edu	37	2	206884568	206884568	+	Splice_Site	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:206884568T>A	ENST00000403263.1	-	7	1704	c.1300A>T	c.(1300-1302)Ata>Tta	p.I434L		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	434					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.I434L(1)|p.I329L(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GTCCGGCTTATGCTAAGGAAA	0.418																																						uc002vaz.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(1300-1302)ATA>TTA		INO80 complex subunit D							72.0	68.0	69.0					2																	206884568		1915	4127	6042	SO:0001630	splice_region_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206884568T>A		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1299-1A>T	2.37:g.206884568T>A							p.I434L	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			7	1705	-			434					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	ENST00000403263.1	37	c.1300A>T	CCDS46500.1	.	.	.	.	.	.	.	.	.	.	T	7.827	0.718921	0.15372	.	.	ENSG00000114933	ENST00000403263;ENST00000233270;ENST00000424117	T;T	0.75050	-0.9;-0.9	5.9	2.23	0.28157	.	0.657977	0.17142	N	0.185416	T	0.52141	0.1716	N	0.14661	0.345	0.21604	N	0.999627	B	0.02656	0.0	B	0.01281	0.0	T	0.32666	-0.9898	10	0.27785	T	0.31	.	5.9446	0.19211	0.0:0.1366:0.2717:0.5918	.	434	Q53TQ3-2	.	L	434;434;329	ENSP00000384198:I434L;ENSP00000402369:I329L	ENSP00000233270:I434L	I	-	1	0	INO80D	206592813	1.000000	0.71417	0.992000	0.48379	0.703000	0.40648	0.612000	0.24283	0.148000	0.19059	0.533000	0.62120	ATA		0.418	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1		NM_017759	Missense_Mutation	7	36	0	0	0	0.02938	0	7	36		
NDUFS1	4719	broad.mit.edu	37	2	207009718	207009718	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:207009718A>C	ENST00000233190.6	-	9	1036	c.770T>G	c.(769-771)gTt>gGt	p.V257G	NDUFS1_ENST00000440274.1_Missense_Mutation_p.V221G|NDUFS1_ENST00000449699.1_Missense_Mutation_p.V257G|NDUFS1_ENST00000455934.2_Missense_Mutation_p.V271G|NDUFS1_ENST00000457011.1_Missense_Mutation_p.V141G|NDUFS1_ENST00000432169.1_Missense_Mutation_p.V146G|NDUFS1_ENST00000423725.1_Missense_Mutation_p.V200G	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	257	4Fe-4S Mo/W bis-MGD-type. {ECO:0000255|PROSITE-ProRule:PRU01004}.				apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.V257G(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTACTTCCAACCGCATCCAT	0.393																																						uc002vbe.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(769-771)GTT>GGT		NADH dehydrogenase (ubiquinone) Fe-S protein 1,	NADH(DB00157)						178.0	151.0	161.0					2																	207009718		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:207009718A>C		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.770T>G	2.37:g.207009718A>C	ENSP00000233190:p.Val257Gly					NDUFS1_uc010ziq.1_Missense_Mutation_p.V271G|NDUFS1_uc010zir.1_Missense_Mutation_p.V221G|NDUFS1_uc010zis.1_Missense_Mutation_p.V200G|NDUFS1_uc010zit.1_Missense_Mutation_p.V146G|NDUFS1_uc010ziu.1_Missense_Mutation_p.V141G	p.V257G	NM_005006	NP_004997	P28331	NDUS1_HUMAN			9	897	-			257					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.770T>G	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.564855	0.86439	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.17	5.17	0.71159	.	0.188653	0.46758	D	0.000280	D	0.90937	0.7151	M	0.80028	2.48	0.80722	D	1	D;D;P;P	0.56035	0.974;0.961;0.843;0.905	P;P;P;P	0.57620	0.751;0.824;0.655;0.739	D	0.92368	0.5903	10	0.87932	D	0	-4.497	15.3068	0.73998	1.0:0.0:0.0:0.0	.	146;221;271;257	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	G	257;200;141;221;271;257;146	ENSP00000233190:V257G;ENSP00000397760:V200G;ENSP00000400976:V141G;ENSP00000409766:V221G;ENSP00000392709:V271G;ENSP00000399912:V257G;ENSP00000409689:V146G	ENSP00000233190:V257G	V	-	2	0	NDUFS1	206717963	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.213000	0.95133	2.072000	0.62099	0.533000	0.62120	GTT		0.393	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4		NM_005006		20	77	0	0	0	0.049695	0	20	77		
DNPEP	23549	broad.mit.edu	37	2	220246839	220246839	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:220246839C>T	ENST00000273075.4	-	11	1179	c.959G>A	c.(958-960)gGa>gAa	p.G320E	DNPEP_ENST00000373972.1_Missense_Mutation_p.G245E|DNPEP_ENST00000490371.1_5'Flank|DNPEP_ENST00000523282.1_Missense_Mutation_p.G328E	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	310					peptide metabolic process (GO:0006518)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G320E(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACTGTGCTCCCTGTGCACT	0.602																																						uc010zlg.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(982-984)GGA>GAA		aspartyl aminopeptidase	L-Glutamic Acid(DB00142)						47.0	53.0	51.0					2																	220246839		2120	4238	6358	SO:0001583	missense	23549				peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding	g.chr2:220246839C>T		CCDS42823.1	2q36.1	2008-05-22			ENSG00000123992	ENSG00000123992			2981	protein-coding gene	gene with protein product		611367				9632644	Standard	NM_012100		Approved	DAP, ASPEP	uc002vle.2	Q9ULA0	OTTHUMG00000058919	ENST00000273075.4:c.959G>A	2.37:g.220246839C>T	ENSP00000273075:p.Gly320Glu					DNPEP_uc010zlf.1_RNA|DNPEP_uc002vle.2_Missense_Mutation_p.G320E|DNPEP_uc002vlf.1_Missense_Mutation_p.G306E|DNPEP_uc002vlh.2_Missense_Mutation_p.G267E|DNPEP_uc002vli.1_Missense_Mutation_p.G267E	p.G328E	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1065	-		Renal(207;0.0474)	310					Q9BW44|Q9NUV5	Missense_Mutation	SNP	ENST00000273075.4	37	c.983G>A	CCDS42823.1	.	.	.	.	.	.	.	.	.	.	C	34	5.325809	0.95708	.	.	ENSG00000123992	ENST00000273075;ENST00000337010;ENST00000373972;ENST00000523282;ENST00000535056;ENST00000457935	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	H	0.99444	4.57	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.95085	0.8217	9	0.87932	D	0	-15.1297	19.1174	0.93346	0.0:1.0:0.0:0.0	.	328;328;310;320	E7ETB3;B7Z7F0;Q9ULA0;Q53SB6	.;.;DNPEP_HUMAN;.	E	320;320;245;328;213;292	.	ENSP00000273075:G320E	G	-	2	0	DNPEP	219955083	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.562000	0.82300	2.746000	0.94184	0.655000	0.94253	GGA		0.602	DNPEP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000130212.1		NM_012100		6	20	0	0	0	0.021553	0	6	20		
SH3BP4	23677	broad.mit.edu	37	2	235943740	235943740	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:235943740G>A	ENST00000409212.1	+	3	601	c.94G>A	c.(94-96)Gag>Aag	p.E32K	SH3BP4_ENST00000344528.4_Missense_Mutation_p.E32K|SH3BP4_ENST00000392011.2_Missense_Mutation_p.E32K			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	32					cellular response to amino acid stimulus (GO:0071230)|endocytosis (GO:0006897)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of GTPase activity (GO:0034260)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|protein localization to lysosome (GO:0061462)|regulation of catalytic activity (GO:0050790)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	GDP-dissociation inhibitor activity (GO:0005092)|identical protein binding (GO:0042802)|Ras GTPase binding (GO:0017016)	p.E32K(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		AGGGTTTTCAGAGACGAGCTT	0.532																																						uc002vvp.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(3)|ovary(1)	4						c.(94-96)GAG>AAG		SH3-domain binding protein 4							78.0	78.0	78.0					2																	235943740		2203	4300	6503	SO:0001583	missense	23677				endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	g.chr2:235943740G>A	AF147747	CCDS2513.1	2q37.1-q37.2	2008-05-15			ENSG00000130147	ENSG00000130147			10826	protein-coding gene	gene with protein product		605611				10644451	Standard	NM_014521		Approved		uc002vvp.3	Q9P0V3	OTTHUMG00000133292	ENST00000409212.1:c.94G>A	2.37:g.235943740G>A	ENSP00000386862:p.Glu32Lys					SH3BP4_uc010fym.2_Missense_Mutation_p.E32K|SH3BP4_uc002vvq.2_Missense_Mutation_p.E32K	p.E32K	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)	3	487	+		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)	32					O95082|Q309A3|Q53QD0|Q53TD1	Missense_Mutation	SNP	ENST00000409212.1	37	c.94G>A	CCDS2513.1	.	.	.	.	.	.	.	.	.	.	G	15.15	2.746852	0.49257	.	.	ENSG00000130147	ENST00000392011;ENST00000420127;ENST00000416021;ENST00000409212;ENST00000344528;ENST00000444916;ENST00000446904;ENST00000454947	T;T;T;T;T	0.31247	2.84;1.5;2.84;2.84;1.68	4.91	4.91	0.64330	Src homology-3 domain (1);	0.105410	0.64402	D	0.000006	T	0.25082	0.0609	L	0.29908	0.895	0.51482	D	0.999924	P;P	0.35656	0.514;0.514	B;B	0.33521	0.165;0.165	T	0.09122	-1.0689	10	0.62326	D	0.03	-35.3817	15.6121	0.76733	0.0:0.0:1.0:0.0	.	32;32	A8K594;Q9P0V3	.;SH3B4_HUMAN	K	32	ENSP00000375867:E32K;ENSP00000403251:E32K;ENSP00000386862:E32K;ENSP00000340237:E32K;ENSP00000415391:E32K	ENSP00000340237:E32K	E	+	1	0	SH3BP4	235608479	1.000000	0.71417	0.198000	0.23420	0.018000	0.09664	8.939000	0.92951	2.275000	0.75901	0.655000	0.94253	GAG		0.532	SH3BP4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329763.1				8	36	0	0	0	0.038147	0	8	36		
COL6A3	1293	broad.mit.edu	37	2	238277324	238277324	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:238277324G>C	ENST00000295550.4	-	10	5234	c.4782C>G	c.(4780-4782)ttC>ttG	p.F1594L	COL6A3_ENST00000346358.4_Missense_Mutation_p.F1394L|COL6A3_ENST00000472056.1_Missense_Mutation_p.F987L|COL6A3_ENST00000347401.3_Missense_Mutation_p.F1393L|COL6A3_ENST00000409809.1_Missense_Mutation_p.F1388L|COL6A3_ENST00000353578.4_Missense_Mutation_p.F1388L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1594	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F1594L(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCGCACTGTGAAGACCAGTC	0.547																																						uc002vwl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(4780-4782)TTC>TTG		alpha 3 type VI collagen isoform 1 precursor							189.0	169.0	176.0					2																	238277324		2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238277324G>C	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4782C>G	2.37:g.238277324G>C	ENSP00000295550:p.Phe1594Leu					COL6A3_uc002vwo.2_Missense_Mutation_p.F1388L|COL6A3_uc010znj.1_Missense_Mutation_p.F987L	p.F1594L	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	10	5067	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1594			VWFA 8.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.4782C>G	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569988	0.45798	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.36	4.47	0.54385	von Willebrand factor, type A (3);	0.107759	0.41712	D	0.000833	T	0.78084	0.4228	L	0.55481	1.735	0.09310	N	0.999999	P;P;B	0.44946	0.846;0.603;0.007	P;B;B	0.47786	0.557;0.283;0.008	T	0.68682	-0.5344	10	0.37606	T	0.19	.	6.7435	0.23449	0.1536:0.1566:0.6897:0.0	.	987;1388;1594	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	L	1594;1393;1388;987;1388;1394	ENSP00000295550:F1594L;ENSP00000315609:F1393L;ENSP00000315873:F1388L;ENSP00000418285:F987L;ENSP00000386844:F1388L;ENSP00000295546:F1394L	ENSP00000295550:F1594L	F	-	3	2	COL6A3	237942063	1.000000	0.71417	0.989000	0.46669	0.979000	0.70002	1.398000	0.34554	1.237000	0.43756	0.655000	0.94253	TTC		0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		33	229	0	0	0	0.059317	0	33	229		
COL6A3	1293	broad.mit.edu	37	2	238283544	238283544	+	Missense_Mutation	SNP	G	G	A	rs369810455		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr2:238283544G>A	ENST00000295550.4	-	8	3642	c.3190C>T	c.(3190-3192)Cgg>Tgg	p.R1064W	COL6A3_ENST00000346358.4_Missense_Mutation_p.R864W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R457W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R863W|COL6A3_ENST00000392004.3_Missense_Mutation_p.R858W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R657W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R858W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R858W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1064	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.		R -> Q (in UCMD; dbSNP:rs112638391). {ECO:0000269|PubMed:15689448}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1064W(2)|p.R858W(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGCGGACCCGGTCCTGGCCC	0.592																																						uc002vwl.2		NaN																	3	Substitution - Missense(3)		urinary_tract(2)|large_intestine(1)	ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(3190-3192)CGG>TGG		alpha 3 type VI collagen isoform 1 precursor		G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	57.0	57.0	57.0		3190,1969,2572,1369,2572	4.4	0.5	2		57	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	COL6A3	NM_004369.3,NM_057164.4,NM_057165.4,NM_057166.4,NM_057167.3	101,101,101,101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1064/3178,657/1037,858/1238,457/2571,858/2972	238283544	1,13005	2203	4300	6503	SO:0001583	missense	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238283544G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3190C>T	2.37:g.238283544G>A	ENSP00000295550:p.Arg1064Trp					COL6A3_uc002vwo.2_Missense_Mutation_p.R858W|COL6A3_uc010znj.1_Missense_Mutation_p.R457W|COL6A3_uc002vwq.2_Missense_Mutation_p.R858W|COL6A3_uc002vwr.2_Missense_Mutation_p.R657W	p.R1064W	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	8	3475	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	1064		R -> Q (in UCMD).	Nonhelical region.|VWFA 6.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	c.3190C>T	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578035	0.65878	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.33	4.44	0.53790	von Willebrand factor, type A (3);	0.304703	0.23429	N	0.048267	D	0.88923	0.6569	L	0.61218	1.895	0.40860	D	0.983828	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;0.998	D;D;D;D;P	0.79784	0.993;0.953;0.954;0.992;0.88	D	0.89908	0.4049	10	0.72032	D	0.01	.	12.7842	0.57496	0.0:0.0:0.5524:0.4476	.	457;657;858;858;1064	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	W	1064;863;858;457;858;864;858;657	ENSP00000295550:R1064W;ENSP00000315609:R863W;ENSP00000315873:R858W;ENSP00000418285:R457W;ENSP00000386844:R858W;ENSP00000295546:R864W;ENSP00000375861:R858W;ENSP00000375860:R657W	ENSP00000295550:R1064W	R	-	1	2	COL6A3	237948283	1.000000	0.71417	0.520000	0.27837	0.826000	0.46750	2.984000	0.49353	1.361000	0.45981	-0.182000	0.12963	CGG		0.592	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369		13	31	0	0	0	0.105934	0	13	31		
HNF4A	3172	broad.mit.edu	37	20	43030114	43030114	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:43030114G>A	ENST00000316099.4	+	1	191	c.102G>A	c.(100-102)ttG>ttA	p.L34L	HNF4A_ENST00000415691.2_Silent_p.L34L|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000609795.1_Intron|HNF4A_ENST00000316673.4_Intron|HNF4A_ENST00000443598.2_Silent_p.L34L	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	34					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L34L(2)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TGCAGGTGTTGACGATGGGCA	0.587																																					Colon(79;2 1269 8820 14841 52347)	uc002xma.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(1)|lung(1)|skin(1)	3						c.(100-102)TTG>TTA		hepatocyte nuclear factor 4 alpha isoform b							143.0	109.0	121.0					20																	43030114		2203	4300	6503	SO:0001819	synonymous_variant	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43030114G>A	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.102G>A	20.37:g.43030114G>A						HNF4A_uc010zwo.1_Intron|HNF4A_uc002xlt.2_Intron|HNF4A_uc002xlu.2_Intron|HNF4A_uc002xlv.2_Intron|uc002xlw.1_Intron|HNF4A_uc002xly.2_Silent_p.L34L|HNF4A_uc002xlz.2_Silent_p.L34L|HNF4A_uc010ggq.2_5'UTR	p.L34L	NM_000457	NP_000448	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		1	191	+		Myeloproliferative disorder(115;0.0122)	34					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	ENST00000316099.4	37	c.102G>A	CCDS13330.1																																																																																				0.587	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3				5	36	0	0	0	0.021553	0	5	36		
C20orf85	128602	broad.mit.edu	37	20	56728657	56728657	+	Silent	SNP	G	G	A	rs536022748		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:56728657G>A	ENST00000371168.3	+	2	187	c.126G>A	c.(124-126)ggG>ggA	p.G42G		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	42								p.G42G(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AGAACTGGGGGTTTTTAACAA	0.428																																						uc002xyv.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(124-126)GGG>GGA		hypothetical protein LOC128602							70.0	74.0	73.0					20																	56728657		2203	4300	6503	SO:0001819	synonymous_variant	128602							g.chr20:56728657G>A	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.126G>A	20.37:g.56728657G>A							p.G42G	NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)		2	164	+	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		42						Silent	SNP	ENST00000371168.3	37	c.126G>A	CCDS13465.1																																																																																				0.428	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2		NM_178456		24	106	0	0	0	0.083992	0	24	106		
CDH4	1002	broad.mit.edu	37	20	60419818	60419818	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:60419818C>G	ENST00000360469.5	+	5	759	c.671C>G	c.(670-672)tCc>tGc	p.S224C	CDH4_ENST00000543233.1_Missense_Mutation_p.S150C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	224	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S224C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGCATTGACTCCATGTCCGGC	0.617																																						uc002ybn.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(3)|ovary(2)|skin(1)	6						c.(670-672)TCC>TGC		cadherin 4, type 1 preproprotein							78.0	67.0	71.0					20																	60419818		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60419818C>G	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.671C>G	20.37:g.60419818C>G	ENSP00000353656:p.Ser224Cys					CDH4_uc002ybp.1_Missense_Mutation_p.S150C	p.S224C	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		5	685	+			224			Cadherin 1.|Extracellular (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.671C>G	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874819	0.72180	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.53640	0.61;0.61	3.68	3.68	0.42216	Cadherin (5);Cadherin-like (1);	0.122535	0.56097	D	0.000034	T	0.53850	0.1822	L	0.45352	1.415	0.43489	D	0.99572	D	0.59767	0.986	P	0.56343	0.796	T	0.54309	-0.8313	9	.	.	.	.	15.7299	0.77792	0.0:1.0:0.0:0.0	.	224	P55283	CADH4_HUMAN	C	224;132;150	ENSP00000353656:S224C;ENSP00000443301:S150C	.	S	+	2	0	CDH4	59853213	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.491000	0.81471	1.753000	0.51906	0.313000	0.20887	TCC		0.617	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2		NM_001794		15	34	0	0	0	0.146539	0	15	34		
NPBWR2	2832	broad.mit.edu	37	20	62737520	62737520	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr20:62737520A>C	ENST00000369768.1	-	1	1004	c.665T>G	c.(664-666)gTg>gGg	p.V222G		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	222					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)	p.V222G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACGGGCAGCACGAAGCCCAG	0.657																																						uc011abt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(1)	1						c.(664-666)GTG>GGG		neuropeptides B/W receptor 2							60.0	52.0	54.0					20																	62737520		2202	4291	6493	SO:0001583	missense	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737520A>C	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.665T>G	20.37:g.62737520A>C	ENSP00000358783:p.Val222Gly						p.V222G	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	665	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		222			Helical; Name=5; (Potential).		Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	37	c.665T>G	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	A	8.772	0.926132	0.18056	.	.	ENSG00000125522	ENST00000369768	T	0.74526	-0.85	3.59	-2.34	0.06704	GPCR, rhodopsin-like superfamily (1);	0.147662	0.43110	U	0.000617	T	0.71525	0.3350	M	0.75777	2.31	0.37994	D	0.933991	B	0.31351	0.32	B	0.35182	0.197	T	0.69669	-0.5083	10	0.87932	D	0	.	11.9667	0.53040	0.1769:0.0:0.8231:0.0	.	222	P48146	NPBW2_HUMAN	G	222	ENSP00000358783:V222G	ENSP00000358783:V222G	V	-	2	0	NPBWR2	62207964	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.306000	0.19279	-0.444000	0.07170	-0.415000	0.06103	GTG		0.657	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1		NM_005286		8	19	0	0	0	0.069234	0	8	19		
KRTAP24-1	643803	broad.mit.edu	37	21	31654758	31654758	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr21:31654758G>C	ENST00000340345.4	-	1	518	c.493C>G	c.(493-495)Cta>Gta	p.L165V		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	165						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.L165V(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						CAGTGGTTTAGAGTTTGGAAA	0.443																																						uc002ynv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(493-495)CTA>GTA		keratin associated protein 24-1							134.0	130.0	131.0					21																	31654758		1886	4119	6005	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654758G>C	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.493C>G	21.37:g.31654758G>C	ENSP00000339238:p.Leu165Val						p.L165V	NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN			1	519	-			165					Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.493C>G	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	G	6.840	0.524199	0.13066	.	.	ENSG00000188694	ENST00000340345	T	0.04809	3.55	4.93	0.876	0.19138	.	0.868547	0.09547	N	0.787381	T	0.03871	0.0109	L	0.44542	1.39	0.09310	N	1	B	0.27013	0.166	B	0.30179	0.112	T	0.45991	-0.9223	10	0.02654	T	1	0.3794	4.0686	0.09872	0.2859:0.0:0.5314:0.1827	.	165	Q3LI83	KR241_HUMAN	V	165	ENSP00000339238:L165V	ENSP00000339238:L165V	L	-	1	2	KRTAP24-1	30576629	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.098000	0.15189	0.042000	0.15717	0.563000	0.77884	CTA		0.443	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2		NM_001085455		40	121	0	0	0	0.104719	0	40	121		
DYRK1A	1859	broad.mit.edu	37	21	38862650	38862650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr21:38862650G>C	ENST00000398960.2	+	6	913	c.838G>C	c.(838-840)Gaa>Caa	p.E280Q	DYRK1A_ENST00000338785.3_Missense_Mutation_p.E280Q|DYRK1A_ENST00000455387.2_Missense_Mutation_p.E52Q|DYRK1A_ENST00000451934.1_Missense_Mutation_p.E280Q|DYRK1A_ENST00000398956.2_Missense_Mutation_p.E280Q|DYRK1A_ENST00000321219.8_Missense_Mutation_p.E280Q|DYRK1A_ENST00000339659.4_Missense_Mutation_p.E271Q	NM_001396.3|NM_130438.2	NP_001387.2|NP_569122.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	280	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				circadian rhythm (GO:0007623)|mitotic cell cycle (GO:0000278)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|nervous system development (GO:0007399)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of protein deacetylation (GO:0090312)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|tau protein binding (GO:0048156)	p.E280Q(1)		breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TGCGACTCCAGAACTTAGTAT	0.428																																					Melanoma(114;464 1602 31203 43785 45765)	uc002ywk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|lung(1)|breast(1)	4						c.(838-840)GAA>CAA		dual-specificity tyrosine-(Y)-phosphorylation							102.0	94.0	96.0					21																	38862650		2203	4300	6503	SO:0001583	missense	1859				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity	g.chr21:38862650G>C	U52373	CCDS13653.1, CCDS13654.1, CCDS42925.1, CCDS42926.1	21q22.13	2010-04-21			ENSG00000157540	ENSG00000157540			3091	protein-coding gene	gene with protein product		600855		DYRK1, DYRK, MNBH		9284911	Standard	NM_130436		Approved		uc002ywk.3	Q13627	OTTHUMG00000086657	ENST00000398960.2:c.838G>C	21.37:g.38862650G>C	ENSP00000381932:p.Glu280Gln					DYRK1A_uc002ywi.2_Missense_Mutation_p.E280Q|DYRK1A_uc002ywj.2_Missense_Mutation_p.E271Q|DYRK1A_uc002ywl.2_Missense_Mutation_p.E280Q|DYRK1A_uc002ywm.2_Missense_Mutation_p.E280Q|DYRK1A_uc011aei.1_Missense_Mutation_p.E41Q	p.E280Q	NM_001396	NP_001387	Q13627	DYR1A_HUMAN			6	913	+			280			Protein kinase.		O60769|Q92582|Q92810|Q9UNM5	Missense_Mutation	SNP	ENST00000398960.2	37	c.838G>C	CCDS42925.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066406	0.76187	.	.	ENSG00000157540	ENST00000338785;ENST00000339659;ENST00000321219;ENST00000451934;ENST00000398960;ENST00000398956;ENST00000455387	T;T;T;T;T;T;T	0.58797	0.39;0.31;0.41;0.39;0.33;0.4;0.82	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.48714	0.1515	N	0.12961	0.28	0.80722	D	1	B;B;B;B;B	0.33266	0.002;0.002;0.404;0.352;0.002	B;B;B;B;B	0.36534	0.012;0.012;0.227;0.146;0.012	T	0.52601	-0.8554	10	0.72032	D	0.01	.	20.2989	0.98608	0.0:0.0:1.0:0.0	.	280;280;280;271;280	Q13627-3;Q13627-4;Q13627;Q13627-2;Q13627-5	.;.;DYR1A_HUMAN;.;.	Q	280;271;280;280;280;280;52	ENSP00000342690:E280Q;ENSP00000340373:E271Q;ENSP00000319032:E280Q;ENSP00000416089:E280Q;ENSP00000381932:E280Q;ENSP00000381929:E280Q;ENSP00000407854:E52Q	ENSP00000319032:E280Q	E	+	1	0	DYRK1A	37784520	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.767000	0.98960	2.794000	0.96219	0.573000	0.79308	GAA		0.428	DYRK1A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194804.1		NM_001396		5	124	0	0	0	0.014758	0	5	124		
CAND2	23066	broad.mit.edu	37	3	12858016	12858016	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:12858016T>A	ENST00000456430.2	+	10	1626	c.1585T>A	c.(1585-1587)Tgt>Agt	p.C529S	CAND2_ENST00000295989.5_Missense_Mutation_p.C436S	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	529					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.C436S(1)|p.C529S(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGTGATGGCCTGTGTGGCTGA	0.647																																					GBM(43;676 868 1633 6395 37496)	uc003bxk.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(3)|pancreas(1)	4						c.(1585-1587)TGT>AGT		TBP-interacting protein isoform 1							45.0	50.0	49.0					3																	12858016		2098	4206	6304	SO:0001583	missense	23066				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr3:12858016T>A		CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1585T>A	3.37:g.12858016T>A	ENSP00000387641:p.Cys529Ser					CAND2_uc003bxj.2_Missense_Mutation_p.C436S	p.C529S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN			10	1634	+			529			HEAT 11.		B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	c.1585T>A	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.464324	0.63513	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64085	-0.08;-0.08	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	L	0.41824	1.3	0.80722	D	1	B;D	0.58970	0.435;0.984	B;D	0.71656	0.218;0.974	T	0.66492	-0.5910	10	0.30078	T	0.28	-23.022	12.9041	0.58141	0.0:0.0:0.0:1.0	.	529;436	O75155;O75155-2	CAND2_HUMAN;.	S	436;529	ENSP00000295989:C436S;ENSP00000387641:C529S	ENSP00000295989:C436S	C	+	1	0	CAND2	12833016	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	7.933000	0.87642	1.941000	0.56285	0.459000	0.35465	TGT		0.647	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4		XM_371617		3	37	0	0	0	0.115264	0	3	37		
TBC1D5	9779	broad.mit.edu	37	3	17349598	17349598	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:17349598C>T	ENST00000253692.7	-	14	2688	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	TBC1D5_ENST00000446818.2_Missense_Mutation_p.E342K|TBC1D5_ENST00000429383.4_Missense_Mutation_p.E342K|TBC1D5_ENST00000429924.2_Missense_Mutation_p.E294K|TBC1D5_ENST00000414318.2_5'UTR	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	342	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)	p.E342K(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGGGGGAACTCTCGTCCAAAT	0.438																																						uc003cbf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1024-1026)GAG>AAG		TBC1 domain family, member 5 isoform b							52.0	51.0	51.0					3																	17349598		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17349598C>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.1024G>A	3.37:g.17349598C>T	ENSP00000253692:p.Glu342Lys					TBC1D5_uc010heu.2_5'UTR|TBC1D5_uc010hev.2_Missense_Mutation_p.E342K|TBC1D5_uc003cbe.2_Missense_Mutation_p.E342K|TBC1D5_uc010hew.1_Missense_Mutation_p.E294K	p.E342K	NM_014744	NP_055559	Q92609	TBCD5_HUMAN			14	2689	-			342			Rab-GAP TBC.		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.1024G>A	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	C	36	5.712540	0.96830	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.31247	1.5;1.5;1.5;1.5	5.65	5.65	0.86999	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.68348	0.2991	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.76926	-0.2778	10	0.87932	D	0	-20.8701	19.718	0.96131	0.0:1.0:0.0:0.0	.	294;342;342	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	K	342;342;342;294	ENSP00000253692:E342K;ENSP00000398127:E342K;ENSP00000402935:E342K;ENSP00000411925:E294K	ENSP00000253692:E342K	E	-	1	0	TBC1D5	17324602	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.683000	0.84093	2.645000	0.89757	0.585000	0.79938	GAG		0.438	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3		NM_014744		11	14	0	0	0	0.11911	0	11	14		
CCDC12	151903	broad.mit.edu	37	3	46963564	46963564	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:46963564T>G	ENST00000546280.1	-	7	531	c.484A>C	c.(484-486)Acc>Ccc	p.T162P	CCDC12_ENST00000425441.1_Missense_Mutation_p.T175P|CCDC12_ENST00000605358.1_5'Flank|CCDC12_ENST00000292314.2_Missense_Mutation_p.T175P	NM_144716.3	NP_653317.2	Q8WUD4	CCD12_HUMAN	coiled-coil domain containing 12	162								p.T162P(1)		endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		GAGTCACAGGTCTTTTGTTCG	0.617																																						uc003cqo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(523-525)ACC>CCC		coiled-coil domain containing 12							104.0	98.0	100.0					3																	46963564		2203	4300	6503	SO:0001583	missense	151903							g.chr3:46963564T>G	BC020830	CCDS2748.1, CCDS2748.2, CCDS2748.3, CCDS63612.1	3p21.31	2006-10-24			ENSG00000160799	ENSG00000160799			28332	protein-coding gene	gene with protein product						12477932	Standard	NM_001277074		Approved	MGC23918	uc003cqo.3	Q8WUD4	OTTHUMG00000133513	ENST00000546280.1:c.484A>C	3.37:g.46963564T>G	ENSP00000441327:p.Thr162Pro						p.T175P	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)	7	532	-		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)	162					Q8N8I4	Missense_Mutation	SNP	ENST00000546280.1	37	c.523A>C		.	.	.	.	.	.	.	.	.	.	T	7.015	0.557518	0.13436	.	.	ENSG00000160799	ENST00000425441;ENST00000292314;ENST00000546280	.	.	.	4.48	1.69	0.24217	.	0.324363	0.36034	N	0.002830	T	0.16599	0.0399	N	0.08118	0	0.09310	N	0.999997	B	0.13145	0.007	B	0.11329	0.006	T	0.17319	-1.0373	9	0.33940	T	0.23	.	7.9396	0.29950	0.0:0.7152:0.0:0.2848	.	162	Q8WUD4	CCD12_HUMAN	P	175;175;162	.	ENSP00000292314:T175P	T	-	1	0	CCDC12	46938568	0.977000	0.34250	0.875000	0.34327	0.026000	0.11368	0.424000	0.21330	0.608000	0.30000	-1.067000	0.02272	ACC		0.617	CCDC12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_144716		4	14	0	0	0	0.014758	0	4	14		
SETD2	29072	broad.mit.edu	37	3	47142947	47142947	+	Splice_Site	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:47142947C>T	ENST00000409792.3	-	8	5058		c.e8+1			NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2						angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)	p.?(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ACAATACTTACCCATATCTCT	0.358			"""N, F, S, Mis"""		clear cell renal carcinoma																																	uc003cqs.2		NaN		Rec	yes		3	3p21.31	29072	N|F|S|Mis	SET domain containing 2			E			clear cell renal carcinoma		2	Unknown(2)		urinary_tract(2)	kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1)	32						c.e8+1		SET domain containing 2							155.0	161.0	159.0					3																	47142947		2203	4300	6503	SO:0001630	splice_region_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47142947C>T	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.5015+1G>A	3.37:g.47142947C>T						SETD2_uc003cqv.2_Splice_Site_p.G1739_splice	p.G1672_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	8	5068	-		Acute lymphoblastic leukemia(5;0.0169)						O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Splice_Site	SNP	ENST00000409792.3	37	c.5015_splice	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	C	32	5.109301	0.94292	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SETD2	47117951	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.735000	0.84939	2.820000	0.97059	0.650000	0.86243	.		0.358	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	Intron	39	89	0	0	0	0.09836	0	39	89		
PTPRG	5793	broad.mit.edu	37	3	62261595	62261595	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:62261595G>A	ENST00000474889.1	+	24	3890	c.3513G>A	c.(3511-3513)caG>caA	p.Q1171Q	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG_ENST00000295874.10_Silent_p.Q1142Q|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1171	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.Q1171Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TCAGTGCTCAGAAAGAGTGTA	0.318																																						uc003dlb.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|lung(2)	7						c.(3511-3513)CAG>CAA		protein tyrosine phosphatase, receptor type, G							114.0	114.0	114.0					3																	62261595		2203	4300	6503	SO:0001819	synonymous_variant	5793				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr3:62261595G>A	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3513G>A	3.37:g.62261595G>A						PTPRG_uc003dlc.2_Silent_p.Q1142Q|PTPRG_uc011bfi.1_Silent_p.Q417Q|uc010hno.2_Intron|uc003dld.3_Intron|uc010hnp.2_Intron|uc003dle.3_Intron	p.Q1171Q	NM_002841	NP_002832	P23470	PTPRG_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)	24	4232	+			1171			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	ENST00000474889.1	37	c.3513G>A	CCDS2895.1																																																																																				0.318	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1		NM_002841		20	27	0	0	0	0.069288	0	20	27		
PPP4R2	151987	broad.mit.edu	37	3	73114035	73114035	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:73114035C>G	ENST00000356692.5	+	8	924	c.671C>G	c.(670-672)tCa>tGa	p.S224*	PPP4R2_ENST00000295862.9_Nonsense_Mutation_p.S168*|PPP4R2_ENST00000394284.3_Nonsense_Mutation_p.S167*			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	224					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)	p.S224*(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GAAGTTTCCTCAGTGAGCCCT	0.378																																						uc003dph.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	lung(1)	1						c.(670-672)TCA>TGA		protein phosphatase 4, regulatory subunit 2							54.0	61.0	59.0					3																	73114035		2201	4298	6499	SO:0001587	stop_gained	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73114035C>G	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.671C>G	3.37:g.73114035C>G	ENSP00000349124:p.Ser224*					PPP4R2_uc003dpi.1_Nonsense_Mutation_p.S167*	p.S224*	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	8	741	+		Prostate(10;0.0187)|Lung SC(41;0.236)	224					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Nonsense_Mutation	SNP	ENST00000356692.5	37	c.671C>G	CCDS2917.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.00|12.00	1.807447|1.807447	0.31961|0.31961	.|.	.|.	ENSG00000163605|ENSG00000163605	ENST00000460360|ENST00000356692;ENST00000488810;ENST00000394284;ENST00000295862	.|.	.|.	.|.	5.56|5.56	2.29|2.29	0.28610|0.28610	.|.	.|0.732597	.|0.13537	.|N	.|0.380540	T|.	0.29817|.	0.0745|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33369|.	-0.9871|.	3|.	.|0.22706	.|T	.|0.39	.|.	5.3631|5.3631	0.16099|0.16099	0.3153:0.5107:0.0:0.174|0.3153:0.5107:0.0:0.174	.|.	.|.	.|.	.|.	E|X	56|224;199;167;168	.|.	.|ENSP00000295862:S168X	Q|S	+|+	1|2	0|0	PPP4R2|PPP4R2	73196725|73196725	0.957000|0.957000	0.32711|0.32711	0.375000|0.375000	0.26029|0.26029	0.550000|0.550000	0.35303|0.35303	2.095000|2.095000	0.41729|0.41729	0.797000|0.797000	0.33971|0.33971	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.378	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1		NM_174907		25	58	0	0	0	0.083992	0	25	58		
PPP4R2	151987	broad.mit.edu	37	3	73114241	73114241	+	Silent	SNP	C	C	A	rs372171443		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:73114241C>A	ENST00000356692.5	+	8	1130	c.877C>A	c.(877-879)Cgg>Agg	p.R293R	PPP4R2_ENST00000295862.9_Silent_p.R237R|PPP4R2_ENST00000394284.3_Silent_p.R236R			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	293					cellular protein modification process (GO:0006464)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA processing (GO:0006397)|regulation of catalytic activity (GO:0050790)|regulation of double-strand break repair via homologous recombination (GO:0010569)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)	protein binding, bridging (GO:0030674)|protein phosphatase type 4 regulator activity (GO:0030362)	p.R293R(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		CCGTTGTACCCGGCAGCACTG	0.428																																						uc003dph.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(1)	1						c.(877-879)CGG>AGG		protein phosphatase 4, regulatory subunit 2							40.0	44.0	43.0					3																	73114241		2203	4300	6503	SO:0001819	synonymous_variant	151987				mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	g.chr3:73114241C>A	AJ271448	CCDS2917.1	3q29	2010-06-18			ENSG00000163605	ENSG00000163605		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	18296	protein-coding gene	gene with protein product		613822				10769191	Standard	NM_174907		Approved		uc003dph.1	Q9NY27	OTTHUMG00000158816	ENST00000356692.5:c.877C>A	3.37:g.73114241C>A						PPP4R2_uc003dpi.1_Silent_p.R236R	p.R293R	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)	8	947	+		Prostate(10;0.0187)|Lung SC(41;0.236)	293					A8K1I6|Q2TAJ9|Q498B8|Q8WXX6	Silent	SNP	ENST00000356692.5	37	c.877C>A	CCDS2917.1																																																																																				0.428	PPP4R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352321.1		NM_174907		3	34	1	0	0.004672	0.115264	0.005088	3	34		
C3orf52	79669	broad.mit.edu	37	3	111821711	111821711	+	Missense_Mutation	SNP	G	G	C	rs139531193	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:111821711G>C	ENST00000264848.5	+	3	354	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	C3orf52_ENST00000431717.2_Missense_Mutation_p.E99Q|C3orf52_ENST00000430855.1_Missense_Mutation_p.E99Q	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	99						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.E99Q(2)		endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						AGATGAAAATGAAATACTTGA	0.343																																						uc003dyq.3		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(295-297)GAA>CAA		TPA-induced transmembrane protein							64.0	57.0	59.0					3																	111821711		1851	4095	5946	SO:0001583	missense	79669					endoplasmic reticulum membrane|integral to membrane		g.chr3:111821711G>C	AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.295G>C	3.37:g.111821711G>C	ENSP00000264848:p.Glu99Gln					C3orf52_uc011bhs.1_Missense_Mutation_p.E99Q|C3orf52_uc011bht.1_Missense_Mutation_p.E99Q	p.E99Q	NM_024616	NP_078892	Q5BVD1	TTMP_HUMAN			3	368	+			99					B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	Missense_Mutation	SNP	ENST00000264848.5	37	c.295G>C	CCDS46887.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.75|19.75	3.884819|3.884819	0.72410|0.72410	.|.	.|.	ENSG00000114529|ENSG00000114529	ENST00000430855;ENST00000431717;ENST00000264848|ENST00000484828	T;T;T|.	0.09630|.	2.96;2.96;2.96|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.066246|.	0.64402|.	D|.	0.000015|.	T|.	0.68751|.	0.3035|.	M|M	0.68952|0.68952	2.095|2.095	0.34900|0.34900	D|D	0.746392|0.746392	D;D;D|.	0.89917|.	0.999;1.0;0.999|.	D;D;D|.	0.74674|.	0.984;0.984;0.984|.	T|.	0.75513|.	-0.3291|.	10|.	0.38643|.	T|.	0.18|.	-3.9477|-3.9477	15.2166|15.2166	0.73270|0.73270	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	99;99;99|.	Q5BVD1-2;Q5BVD1-3;Q5BVD1|.	.;.;TTMP_HUMAN|.	Q|S	99|89	ENSP00000390333:E99Q;ENSP00000399392:E99Q;ENSP00000264848:E99Q|.	ENSP00000264848:E99Q|.	E|X	+|+	1|2	0|2	C3orf52|C3orf52	113304401|113304401	0.991000|0.991000	0.36638|0.36638	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	2.008000|2.008000	0.40893|0.40893	2.672000|2.672000	0.90937|0.90937	0.298000|0.298000	0.19748|0.19748	GAA|TGA		0.343	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353961.1		NM_024616		2	5	0	0	0	0.115264	0	2	5		
SLC9C1	285335	broad.mit.edu	37	3	111996650	111996650	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:111996650G>C	ENST00000305815.5	-	5	628	c.376C>G	c.(376-378)Ctg>Gtg	p.L126V	SLC9C1_ENST00000487372.1_Missense_Mutation_p.L126V|SLC9C1_ENST00000467397.1_5'Flank	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	126					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)	p.L126V(1)									ACAGATGCCAGATGCCAAAGA	0.343																																						uc003dyu.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|breast(2)	5						c.(376-378)CTG>GTG		sperm-specific sodium proton exchanger							71.0	78.0	75.0					3																	111996650		2203	4300	6503	SO:0001583	missense	285335				cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity	g.chr3:111996650G>C	AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.376C>G	3.37:g.111996650G>C	ENSP00000306627:p.Leu126Val					SLC9A10_uc011bhu.1_Translation_Start_Site|SLC9A10_uc010hqc.2_Missense_Mutation_p.L126V	p.L126V	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN			5	598	-			126					Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	c.376C>G	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	G	4.678	0.126149	0.08931	.	.	ENSG00000172139	ENST00000305815;ENST00000487372;ENST00000486574	T;T;T	0.15256	2.44;2.44;2.44	5.13	3.33	0.38152	Cation/H+ exchanger (1);	0.000000	0.39615	N	0.001316	T	0.26085	0.0636	L	0.42245	1.32	0.25628	N	0.986334	P;D	0.89917	0.708;1.0	B;D	0.87578	0.332;0.998	T	0.10222	-1.0639	10	0.11182	T	0.66	.	8.2069	0.31461	0.1864:0.0:0.8136:0.0	.	126;126	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	V	126;126;53	ENSP00000306627:L126V;ENSP00000420688:L126V;ENSP00000417274:L53V	ENSP00000306627:L126V	L	-	1	2	SLC9A10	113479340	0.991000	0.36638	0.946000	0.38457	0.077000	0.17291	1.120000	0.31271	0.552000	0.29026	0.655000	0.94253	CTG		0.343	SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1		NM_183061		29	95	0	0	0	0.125774	0	29	95		
HEG1	57493	broad.mit.edu	37	3	124746337	124746337	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:124746337G>A	ENST00000311127.4	-	3	692	c.625C>T	c.(625-627)Cac>Tac	p.H209Y		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	209					cardiac atrium morphogenesis (GO:0003209)|cell-cell junction assembly (GO:0007043)|endothelial cell morphogenesis (GO:0001886)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|lymph circulation (GO:0003017)|lymph vessel development (GO:0001945)|multicellular organism growth (GO:0035264)|pericardium development (GO:0060039)|post-embryonic development (GO:0009791)|regulation of body fluid levels (GO:0050878)|vasculogenesis (GO:0001570)|venous blood vessel morphogenesis (GO:0048845)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.H209Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GATGGCAGGTGAAGACTTTCT	0.453																																						uc003ehs.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(625-627)CAC>TAC		HEG homolog 1 precursor							52.0	48.0	49.0					3																	124746337		1864	4097	5961	SO:0001583	missense	57493					extracellular region|integral to membrane	calcium ion binding	g.chr3:124746337G>A	AK074987	CCDS46898.1	3q21.2	2013-03-08	2013-03-08		ENSG00000173706	ENSG00000173706			29227	protein-coding gene	gene with protein product	"""heart of glass"""	614182	"""HEG homolog 1 (zebrafish)"""			10574462, 19151727, 23007647	Standard	NM_020733		Approved	KIAA1237, HEG	uc003ehs.4	Q9ULI3	OTTHUMG00000159486	ENST00000311127.4:c.625C>T	3.37:g.124746337G>A	ENSP00000311502:p.His209Tyr					HEG1_uc011bke.1_Missense_Mutation_p.H209Y	p.H209Y	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN			3	693	-			209			Extracellular (Potential).		Q6NX66|Q8NC40|Q9BSV0	Missense_Mutation	SNP	ENST00000311127.4	37	c.625C>T	CCDS46898.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.564715	0.27915	.	.	ENSG00000173706	ENST00000311127	D	0.88975	-2.45	4.86	3.06	0.35304	.	.	.	.	.	T	0.82042	0.4951	L	0.29908	0.895	0.09310	N	1	P;P	0.42296	0.775;0.666	B;B	0.40825	0.341;0.184	T	0.71906	-0.4451	9	0.52906	T	0.07	.	7.5152	0.27596	0.1943:0.0:0.8057:0.0	.	209;209	Q9ULI3-2;Q9ULI3	.;HEG1_HUMAN	Y	209	ENSP00000311502:H209Y	ENSP00000311502:H209Y	H	-	1	0	HEG1	126229027	0.015000	0.18098	0.002000	0.10522	0.003000	0.03518	1.161000	0.31773	0.758000	0.33059	-0.145000	0.13849	CAC		0.453	HEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355732.2		XM_087386		6	27	0	0	0	0.021553	0	6	27		
TPRA1	131601	broad.mit.edu	37	3	127295478	127295478	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:127295478C>T	ENST00000355552.3	-	6	856	c.480G>A	c.(478-480)ctG>ctA	p.L160L	TPRA1_ENST00000465915.1_5'Flank|TPRA1_ENST00000489960.1_Silent_p.L160L|TPRA1_ENST00000450633.2_Silent_p.L160L|TPRA1_ENST00000296210.7_Silent_p.L160L	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	160					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.L160L(1)		endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						CAGAGTAGGCCAGGGACAGCA	0.617																																						uc003ejl.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(478-480)CTG>CTA		G protein-coupled receptor 175 isoform 1							46.0	38.0	41.0					3																	127295478		2202	4300	6502	SO:0001819	synonymous_variant	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127295478C>T	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.480G>A	3.37:g.127295478C>T						TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.L160L|TPRA1_uc010hsk.2_Silent_p.L160L|TPRA1_uc003ejn.2_Silent_p.L160L	p.L160L	NM_016372	NP_057456	Q86W33	TPRA1_HUMAN			5	771	-			160			Helical; Name=4; (Potential).		A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Silent	SNP	ENST00000355552.3	37	c.480G>A	CCDS3042.1																																																																																				0.617	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1		NM_016372		3	14	0	0	0	0.115264	0	3	14		
EPHB1	2047	broad.mit.edu	37	3	134920360	134920360	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:134920360C>G	ENST00000398015.3	+	12	2545	c.2175C>G	c.(2173-2175)ctC>ctG	p.L725L	EPHB1_ENST00000493838.1_Silent_p.L286L	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	725	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.L725L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGGTATGCTCAGGGGCATCG	0.507																																						uc003eqt.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(2173-2175)CTC>CTG		ephrin receptor EphB1 precursor							227.0	225.0	226.0					3																	134920360		2203	4300	6503	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134920360C>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.2175C>G	3.37:g.134920360C>G						EPHB1_uc003equ.2_Silent_p.L286L	p.L725L	NM_004441	NP_004432	P54762	EPHB1_HUMAN			12	2395	+			725			Cytoplasmic (Potential).|Protein kinase.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.2175C>G	CCDS46921.1																																																																																				0.507	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1		NM_004441		54	139	0	0	0	0.139131	0	54	139		
PCCB	5096	broad.mit.edu	37	3	136045670	136045670	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:136045670G>C	ENST00000251654.4	+	11	1186	c.1116G>C	c.(1114-1116)gtG>gtC	p.V372V	PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000462637.1_Silent_p.V349V|PCCB_ENST00000468777.1_Silent_p.V403V|PCCB_ENST00000469217.1_Silent_p.V392V|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000466072.1_Silent_p.V392V|PCCB_ENST00000483687.1_Silent_p.V353V|PCCB_ENST00000471595.1_Silent_p.V372V|PCCB_ENST00000490504.1_Silent_p.V315V|PCCB_ENST00000482086.1_Silent_p.V256V	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	372	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.V372V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	ATTCATCTGTGAAAGGGGCTC	0.408																																						uc003eqy.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1114-1116)GTG>GTC		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						244.0	233.0	237.0					3																	136045670		2203	4300	6503	SO:0001819	synonymous_variant	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136045670G>C		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.1116G>C	3.37:g.136045670G>C						PCCB_uc003eqz.1_Silent_p.V372V|PCCB_uc011bmc.1_Silent_p.V392V|PCCB_uc011bmd.1_Silent_p.V289V	p.V372V	NM_000532	NP_000523	P05166	PCCB_HUMAN			11	1167	+			372			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Silent	SNP	ENST00000251654.4	37	c.1116G>C	CCDS3089.1																																																																																				0.408	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1				44	208	0	0	0	0.117977	0	44	208		
CP	1356	broad.mit.edu	37	3	148897410	148897410	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:148897410G>A	ENST00000264613.6	-	15	2856	c.2594C>T	c.(2593-2595)tCt>tTt	p.S865F		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	865	F5/8 type A 3.|Plastocyanin-like 5.				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)	p.S865F(1)		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)	TCCAGCTCCAGATCTTTCTGG	0.363																																						uc003ewy.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2593-2595)TCT>TTT		ceruloplasmin precursor	Drotrecogin alfa(DB00055)						113.0	99.0	104.0					3																	148897410		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148897410G>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.2594C>T	3.37:g.148897410G>A	ENSP00000264613:p.Ser865Phe					CP_uc011bnr.1_RNA|CP_uc003eww.3_Missense_Mutation_p.S17F|CP_uc003ewx.3_Missense_Mutation_p.S646F|CP_uc003ewz.2_Missense_Mutation_p.S865F	p.S865F	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		15	2847	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	865			Plastocyanin-like 5.|F5/8 type A 3.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2594C>T	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624811	0.87560	.	.	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.98822	-5.16;-5.16	5.71	5.71	0.89125	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.167289	0.53938	D	0.000045	D	0.99039	0.9671	M	0.70108	2.13	0.80722	D	1	D;D;D;D	0.76494	0.993;0.997;0.998;0.999	D;D;D;D	0.78314	0.95;0.963;0.98;0.991	D	0.99890	1.1132	10	0.87932	D	0	-21.6337	19.8608	0.96783	0.0:0.0:1.0:0.0	.	865;865;865;578	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	F	865;648	ENSP00000264613:S865F;ENSP00000420545:S648F	ENSP00000264613:S865F	S	-	2	0	CP	150380100	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.842000	0.92136	2.680000	0.91292	0.557000	0.71058	TCT		0.363	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1		NM_000096		11	68	0	0	0	0.09319	0	11	68		
PLCH1	23007	broad.mit.edu	37	3	155232664	155232664	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:155232664T>A	ENST00000340059.7	-	11	1443	c.1444A>T	c.(1444-1446)Acc>Tcc	p.T482S	PLCH1_ENST00000460012.1_Missense_Mutation_p.T464S|PLCH1_ENST00000414191.1_Missense_Mutation_p.T464S|PLCH1_ENST00000447496.2_Missense_Mutation_p.T482S|PLCH1_ENST00000334686.6_Missense_Mutation_p.T464S|PLCH1_ENST00000494598.1_Missense_Mutation_p.T482S	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	482					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.T482S(1)|p.T464S(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCTCAGTGGTCCCATTACTC	0.348																																						uc011bok.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	skin(3)|ovary(1)	4						c.(1444-1446)ACC>TCC		phospholipase C eta 1 isoform a							79.0	73.0	75.0					3																	155232664		2203	4300	6503	SO:0001583	missense	23007				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:155232664T>A	AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1444A>T	3.37:g.155232664T>A	ENSP00000345988:p.Thr482Ser					PLCH1_uc011boj.1_Missense_Mutation_p.T482S|PLCH1_uc011bol.1_Missense_Mutation_p.T464S	p.T482S	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		11	1721	-			482					Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	ENST00000340059.7	37	c.1444A>T	CCDS46939.1	.	.	.	.	.	.	.	.	.	.	T	15.72	2.915416	0.52546	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96	5.8	5.8	0.92144	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.222990	0.47093	D	0.000246	T	0.48768	0.1518	M	0.72894	2.215	0.34083	D	0.659846	P;P;B	0.44946	0.846;0.599;0.125	P;B;B	0.47786	0.557;0.146;0.138	T	0.62914	-0.6753	10	0.30854	T	0.27	.	10.7801	0.46374	0.0:0.079:0.0:0.921	.	464;482;482	Q4KWH8-2;Q4KWH8;Q4KWH8-3	.;PLCH1_HUMAN;.	S	482;464;482;482;464;464	ENSP00000419100:T482S;ENSP00000417502:T464S;ENSP00000402759:T482S;ENSP00000345988:T482S;ENSP00000335469:T464S;ENSP00000412977:T464S	ENSP00000335469:T464S	T	-	1	0	PLCH1	156715358	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	4.084000	0.57650	2.209000	0.71365	0.533000	0.62120	ACC		0.348	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351125.1		NM_014996		18	55	0	0	0	0.038395	0	18	55		
TRIM59	286827	broad.mit.edu	37	3	160156757	160156757	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:160156757G>C	ENST00000309784.4	-	3	400	c.215C>G	c.(214-216)tCt>tGt	p.S72C	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.S72C|TRIM59_ENST00000543469.1_Missense_Mutation_p.S72C	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	72					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S72C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AACAGGTAAAGATTCAATGCC	0.393																																						uc003fdm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(214-216)TCT>TGT		tripartite motif-containing 59							110.0	114.0	113.0					3																	160156757		2203	4300	6503	SO:0001583	missense	286827					integral to membrane|intracellular	zinc ion binding	g.chr3:160156757G>C	AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.215C>G	3.37:g.160156757G>C	ENSP00000311219:p.Ser72Cys					IFT80_uc003fda.2_RNA	p.S72C	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	410	-			72					A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	c.215C>G	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168662	0.78339	.	.	ENSG00000213186	ENST00000543469;ENST00000309784;ENST00000479460;ENST00000471396;ENST00000496222;ENST00000471155;ENST00000494486	T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18	6.17	5.29	0.74685	Zinc finger, RING/FYVE/PHD-type (1);	0.231097	0.46442	D	0.000298	T	0.44891	0.1315	M	0.69823	2.125	0.39718	D	0.971439	D	0.89917	1.0	D	0.69142	0.962	T	0.24048	-1.0171	9	.	.	.	-8.8745	15.9972	0.80260	0.065:0.0:0.935:0.0	.	72	Q8IWR1	TRI59_HUMAN	C	72;72;72;72;100;72;72	ENSP00000444313:S72C;ENSP00000311219:S72C;ENSP00000417081:S72C;ENSP00000420520:S72C;ENSP00000418856:S100C;ENSP00000418699:S72C;ENSP00000417605:S72C	.	S	-	2	0	TRIM59	161639451	0.997000	0.39634	1.000000	0.80357	0.987000	0.75469	3.849000	0.55910	2.941000	0.99782	0.655000	0.94253	TCT		0.393	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1		NM_173084		41	123	0	0	0	0.086207	0	41	123		
PIK3CA	5290	broad.mit.edu	37	3	178952074	178952074	+	Missense_Mutation	SNP	G	G	T	rs121913283		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:178952074G>T	ENST00000263967.3	+	21	3286	c.3129G>T	c.(3127-3129)atG>atT	p.M1043I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, 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.M1043I(66)		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)	TGAAACAAATGAATGATGCAC	0.368		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		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		66	Substitution - Missense(66)	p.M1043I(33)|p.M1043V(14)|p.M1043T(3)	large_intestine(36)|endometrium(11)|breast(6)|urinary_tract(4)|lung(4)|cervix(2)|thyroid(1)|central_nervous_system(1)|ovary(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.(3127-3129)ATG>ATT		phosphoinositide-3-kinase, catalytic, alpha							98.0	88.0	91.0					3																	178952074		1907	4120	6027	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.chr3:178952074G>T		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.3129G>T	3.37:g.178952074G>T	ENSP00000263967:p.Met1043Ile	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1043I	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)		21	3286	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1043		M -> I (in cancer; shows an increase in lipid kinase activity).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3129G>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.919429	0.52653	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.00500	-1.43	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.58662	-0.7597	10	0.02654	T	1	-20.5202	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1043	P42336	PK3CA_HUMAN	I	1043	ENSP00000263967:M1043I	ENSP00000263967:M1043I	M	+	3	0	PIK3CA	180434768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	ATG		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2				28	55	1	0	2.4375e-19	0.125774	2.7683e-19	28	55		
USP13	8975	broad.mit.edu	37	3	179399668	179399668	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:179399668T>A	ENST00000263966.3	+	2	642	c.171T>A	c.(169-171)aaT>aaA	p.N57K	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_5'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	57					autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.N57K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCTTCTAGAATTCTGAAGGTG	0.423																																						uc003fkh.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(169-171)AAT>AAA		ubiquitin thiolesterase 13							185.0	185.0	185.0					3																	179399668		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179399668T>A	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.171T>A	3.37:g.179399668T>A	ENSP00000263966:p.Asn57Lys					USP13_uc003fkf.2_Missense_Mutation_p.N57K	p.N57K	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		2	252	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		57					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.171T>A	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	T	12.90	2.076520	0.36662	.	.	ENSG00000058056	ENST00000263966	T	0.13089	2.62	5.67	3.39	0.38822	.	0.263896	0.43416	D	0.000568	T	0.04003	0.0112	N	0.01576	-0.805	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.01281	0.0;0.0	T	0.37291	-0.9712	10	0.30078	T	0.28	-12.9312	4.1029	0.10023	0.0:0.2018:0.1766:0.6216	.	57;57	Q92995;A8K2S3	UBP13_HUMAN;.	K	57	ENSP00000263966:N57K	ENSP00000263966:N57K	N	+	3	2	USP13	180882362	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	2.132000	0.42083	0.487000	0.27698	0.455000	0.32223	AAT		0.423	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1				73	205	0	0	0	0.139131	0	73	205		
IQCG	84223	broad.mit.edu	37	3	197616472	197616472	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr3:197616472C>G	ENST00000265239.6	-	12	1735	c.1311G>C	c.(1309-1311)aaG>aaC	p.K437N	IQCG_ENST00000455191.1_Missense_Mutation_p.K437N	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	437						extracellular vesicular exosome (GO:0070062)		p.K437N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGCCTCTCCTCTTATCCTTGC	0.443																																						uc003fyo.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(1309-1311)AAG>AAC		IQ motif containing G							357.0	312.0	327.0					3																	197616472		2203	4300	6503	SO:0001583	missense	84223							g.chr3:197616472C>G	AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1311G>C	3.37:g.197616472C>G	ENSP00000265239:p.Lys437Asn					IQCG_uc003fyn.2_Missense_Mutation_p.K339N|IQCG_uc003fyp.2_Missense_Mutation_p.K437N|IQCG_uc003fym.2_Missense_Mutation_p.K138N	p.K437N	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)	11	1457	-	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		437					Q9BST2|Q9HAG8	Missense_Mutation	SNP	ENST00000265239.6	37	c.1311G>C	CCDS3331.1	.	.	.	.	.	.	.	.	.	.	C	5.434	0.265213	0.10294	.	.	ENSG00000114473	ENST00000265239;ENST00000455191	T;T	0.57752	0.38;0.38	4.25	1.51	0.23008	.	0.532611	0.19918	N	0.103142	T	0.44582	0.1300	M	0.70275	2.135	0.09310	N	0.999997	B	0.26876	0.162	B	0.28465	0.09	T	0.31971	-0.9924	10	0.30078	T	0.28	-16.8423	3.4326	0.07434	0.1768:0.4062:0.0:0.4169	.	437	Q9H095	IQCG_HUMAN	N	437	ENSP00000265239:K437N;ENSP00000407736:K437N	ENSP00000265239:K437N	K	-	3	2	IQCG	199100869	0.054000	0.20591	0.006000	0.13384	0.082000	0.17680	0.156000	0.16382	0.341000	0.23771	0.650000	0.86243	AAG		0.443	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339730.1		NM_032263		4	184	0	0	0	0.014758	0	4	184		
JAKMIP1	152789	broad.mit.edu	37	4	6087327	6087327	+	Silent	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:6087327C>G	ENST00000282924.5	-	4	1139	c.654G>C	c.(652-654)gtG>gtC	p.V218V	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409021.3_Silent_p.V218V|JAKMIP1_ENST00000410077.2_Silent_p.V53V|JAKMIP1_ENST00000409371.3_Silent_p.V53V|JAKMIP1_ENST00000409831.1_Silent_p.V218V	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	218	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.V218V(2)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGCCAGAATCACACGGTCTT	0.522																																						uc003giu.3		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(652-654)GTG>GTC		janus kinase and microtubule interacting protein							127.0	126.0	126.0					4																	6087327		2203	4300	6503	SO:0001819	synonymous_variant	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6087327C>G	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.654G>C	4.37:g.6087327C>G						JAKMIP1_uc010idb.1_Silent_p.V218V|JAKMIP1_uc010idc.1_Silent_p.V53V|JAKMIP1_uc010idd.1_Silent_p.V218V|JAKMIP1_uc011bwc.1_Silent_p.V53V|JAKMIP1_uc003giv.3_Silent_p.V218V|JAKMIP1_uc010ide.2_Silent_p.V218V	p.V218V	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			4	930	-			218			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	ENST00000282924.5	37	c.654G>C	CCDS3385.1																																																																																				0.522	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2		NM_144720		35	117	0	0	0	0.059317	0	35	117		
WDR1	9948	broad.mit.edu	37	4	10083020	10083020	+	Silent	SNP	G	G	A	rs190162322		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:10083020G>A	ENST00000499869.2	-	11	1438	c.1245C>T	c.(1243-1245)gtC>gtT	p.V415V	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Silent_p.V275V|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000382451.2_Silent_p.V275V|WDR1_ENST00000382452.2_Silent_p.V415V			O75083	WDR1_HUMAN	WD repeat domain 1	415					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.V415V(1)|p.V416V(1)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCCCGGGGCCGACGGCTACGC	0.567													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15348	0.0		0.0	False		,,,				2504	0.0					uc003gmf.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	ovary(2)|pancreas(1)	3						c.(1243-1245)GTC>GTT		WD repeat-containing protein 1 isoform 1		G	,	0,4072		0,0,2036	82.0	91.0	88.0		825,1245	-8.3	0.1	4		88	5,8351		0,5,4173	no	coding-synonymous,coding-synonymous	WDR1	NM_005112.4,NM_017491.3	,	0,5,6209	AA,AG,GG		0.0598,0.0,0.0402	,	275/467,415/607	10083020	5,12423	2036	4178	6214	SO:0001819	synonymous_variant	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10083020G>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1245C>T	4.37:g.10083020G>A						WDR1_uc003gmg.2_Silent_p.V275V|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	p.V415V	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	11	1528	-			415					A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Silent	SNP	ENST00000499869.2	37	c.1245C>T	CCDS54740.1																																																																																				0.567	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1				14	31	0	0	0	0.132662	0	14	31		
ATP10D	57205	broad.mit.edu	37	4	47593107	47593107	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:47593107G>C	ENST00000273859.3	+	23	4259	c.3990G>C	c.(3988-3990)ctG>ctC	p.L1330L		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1330					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L1330L(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTCCAATTCTGAGAGCTAAGC	0.413																																						uc003gxk.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(2)|pancreas(1)	3						c.(3988-3990)CTG>CTC		ATPase, class V, type 10D							77.0	83.0	81.0					4																	47593107		2203	4299	6502	SO:0001819	synonymous_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47593107G>C	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3990G>C	4.37:g.47593107G>C						ATP10D_uc003gxl.1_Silent_p.L578L	p.L1330L	NM_020453	NP_065186	Q9P241	AT10D_HUMAN			23	4154	+			1330			Cytoplasmic (Potential).		A2RRC8|D6REN2|Q8NC70|Q96SR3	Silent	SNP	ENST00000273859.3	37	c.3990G>C	CCDS3476.1																																																																																				0.413	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1		NM_020453		30	92	0	0	0	0.134883	0	30	92		
GNRHR	2798	broad.mit.edu	37	4	68619664	68619664	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:68619664G>A	ENST00000226413.4	-	1	414	c.390C>T	c.(388-390)ttC>ttT	p.F130F	UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.F130F|UBA6-AS1_ENST00000500538.2_RNA	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	130					cellular response to gonadotropin-releasing hormone (GO:0097211)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	gonadotropin-releasing hormone receptor activity (GO:0004968)	p.F130F(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Buserelin(DB06719)|Cetrorelix(DB00050)|Danazol(DB01406)|Degarelix(DB06699)|Gonadorelin(DB00644)|Goserelin(DB00014)|Leuprolide(DB00007)|Nafarelin(DB00666)	CCACCATCATGAAGGCTGGGG	0.507																																						uc003hdn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(388-390)TTC>TTT		gonadotropin-releasing hormone receptor isoform	Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)						81.0	81.0	81.0					4																	68619664		2203	4300	6503	SO:0001819	synonymous_variant	2798				multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	g.chr4:68619664G>A		CCDS3517.1, CCDS47064.1	4q21.2	2012-08-08			ENSG00000109163	ENSG00000109163		"""GPCR / Class A : Gonadotropin-releasing hormone receptors"""	4421	protein-coding gene	gene with protein product		138850		GRHR		8386108	Standard	NM_000406		Approved	LHRHR	uc003hdn.3	P30968	OTTHUMG00000129302	ENST00000226413.4:c.390C>T	4.37:g.68619664G>A						LOC550112_uc003hdl.3_Intron|GNRHR_uc003hdm.2_Silent_p.F130F	p.F130F	NM_000406	NP_000397	P30968	GNRHR_HUMAN			1	2141	-			130			Helical; Name=3; (Potential).		O75793|Q14D13|Q92644	Silent	SNP	ENST00000226413.4	37	c.390C>T	CCDS3517.1																																																																																				0.507	GNRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251432.2				12	42	0	0	0	0.105934	0	12	42		
MANBA	4126	broad.mit.edu	37	4	103595103	103595103	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:103595103G>A	ENST00000226578.4	-	8	1184	c.1085C>T	c.(1084-1086)tCa>tTa	p.S362L	MANBA_ENST00000505239.1_Missense_Mutation_p.S305L	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	362					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)	p.S362L(1)|p.S362*(1)		cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		GTCCTGGAATGAATCTGCTGG	0.368																																						uc003hwg.2		NaN																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		urinary_tract(1)|large_intestine(1)	ovary(1)	1						c.(1084-1086)TCA>TTA		mannosidase, beta A, lysosomal precursor							78.0	85.0	83.0					4																	103595103		2203	4300	6503	SO:0001583	missense	4126				carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding	g.chr4:103595103G>A		CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1085C>T	4.37:g.103595103G>A	ENSP00000226578:p.Ser362Leu					MANBA_uc011ces.1_Missense_Mutation_p.S305L	p.S362L	NM_005908	NP_005899	O00462	MANBA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)	8	1185	-		Hepatocellular(203;0.217)	362					Q96BC3|Q9NYX9	Missense_Mutation	SNP	ENST00000226578.4	37	c.1085C>T	CCDS3658.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564265	0.45694	.	.	ENSG00000109323	ENST00000226578;ENST00000505239	T;T	0.64085	-0.08;-0.08	5.63	4.79	0.61399	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.387274	0.29616	N	0.011644	T	0.67439	0.2893	M	0.72353	2.195	0.44214	D	0.99704	P;B	0.45044	0.849;0.1	P;B	0.47299	0.543;0.098	T	0.67158	-0.5741	10	0.33141	T	0.24	-13.258	14.6467	0.68767	0.0699:0.0:0.9301:0.0	.	305;362	E9PFW2;O00462	.;MANBA_HUMAN	L	362;305	ENSP00000226578:S362L;ENSP00000427322:S305L	ENSP00000226578:S362L	S	-	2	0	MANBA	103814151	1.000000	0.71417	0.014000	0.15608	0.898000	0.52572	7.556000	0.82233	1.370000	0.46153	0.561000	0.74099	TCA		0.368	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253803.2				36	104	0	0	0	0.074837	0	36	104		
LEF1	51176	broad.mit.edu	37	4	109004529	109004529	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:109004529G>A	ENST00000265165.1	-	5	1275	c.621C>T	c.(619-621)atC>atT	p.I207I	LEF1_ENST00000512172.1_Silent_p.I139I|LEF1_ENST00000510624.1_Silent_p.I139I|LEF1_ENST00000438313.2_Silent_p.I207I|LEF1_ENST00000379951.2_Silent_p.I207I	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	207	Pro-rich.				alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.I207I(1)|p.I139I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GAGGTGGGGTGATCTGTCCAA	0.463																																						uc003hyt.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	large_intestine(1)	1						c.(619-621)ATC>ATT		lymphoid enhancer-binding factor 1 isoform 1							130.0	114.0	119.0					4																	109004529		2203	4300	6503	SO:0001819	synonymous_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:109004529G>A		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.621C>T	4.37:g.109004529G>A						LEF1_uc011cfj.1_Silent_p.I92I|LEF1_uc011cfk.1_Silent_p.I139I|LEF1_uc003hyu.1_Silent_p.I207I|LEF1_uc003hyv.1_Silent_p.I207I|LEF1_uc010imb.1_RNA	p.I207I	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	5	1276	-			207			Pro-rich.		B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Silent	SNP	ENST00000265165.1	37	c.621C>T	CCDS3679.1																																																																																				0.463	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2				18	39	0	0	0	0.043863	0	18	39		
NAA15	80155	broad.mit.edu	37	4	140309202	140309202	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:140309202T>A	ENST00000296543.5	+	20	2888	c.2565T>A	c.(2563-2565)agT>agA	p.S855R	NAA15_ENST00000398947.1_Missense_Mutation_p.S854R|NAA15_ENST00000515576.1_Intron	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	855	Interaction with HYPK.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)	p.S855R(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGGAGATAGTTCTGCAGAAG	0.353																																						uc003ihu.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(2563-2565)AGT>AGA		NMDA receptor regulated 1							75.0	68.0	70.0					4																	140309202		1860	4100	5960	SO:0001583	missense	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140309202T>A	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.2565T>A	4.37:g.140309202T>A	ENSP00000296543:p.Ser855Arg						p.S855R	NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN			20	2821	+			855					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	ENST00000296543.5	37	c.2565T>A	CCDS43270.1	.	.	.	.	.	.	.	.	.	.	T	8.028	0.761072	0.15914	.	.	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.43294	0.95;0.95	5.86	3.47	0.39725	.	0.100005	0.64402	D	0.000001	T	0.26774	0.0655	L	0.35723	1.085	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07597	-1.0764	10	0.20519	T	0.43	-15.4426	4.4333	0.11538	0.1331:0.2112:0.0:0.6557	.	855	Q9BXJ9	NAA15_HUMAN	R	855;729;854	ENSP00000296543:S855R;ENSP00000381920:S854R	ENSP00000296543:S855R	S	+	3	2	NAA15	140528652	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.345000	0.19979	0.498000	0.27948	-0.256000	0.11100	AGT		0.353	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2		NM_057175		36	85	0	0	0	0.064281	0	36	85		
CLGN	1047	broad.mit.edu	37	4	141320087	141320087	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:141320087C>G	ENST00000325617.5	-	8	1242	c.802G>C	c.(802-804)Gaa>Caa	p.E268Q	CLGN_ENST00000414773.1_Missense_Mutation_p.E268Q|CLGN_ENST00000537281.1_Missense_Mutation_p.E268Q	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	268					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.E268Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TTGGGATCTTCAATTTCTTTG	0.408																																						uc011chi.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(1)	3						c.(802-804)GAA>CAA		calmegin precursor							172.0	168.0	169.0					4																	141320087		2203	4300	6503	SO:0001583	missense	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141320087C>G	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.802G>C	4.37:g.141320087C>G	ENSP00000326699:p.Glu268Gln					CLGN_uc003iii.2_Missense_Mutation_p.E268Q	p.E268Q	NM_001130675	NP_001124147	O14967	CLGN_HUMAN			9	1020	-	all_hematologic(180;0.162)		268			Lumenal (Potential).|1-1.		B3KS90|B4DXV8|D3DNY8	Missense_Mutation	SNP	ENST00000325617.5	37	c.802G>C	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.882277	0.91740	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.50813	0.73;0.73;0.73	5.74	5.74	0.90152	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);	0.150319	0.64402	D	0.000011	T	0.65407	0.2688	L	0.60455	1.87	0.46701	D	0.999162	D	0.61080	0.989	P	0.61940	0.896	T	0.65327	-0.6195	10	0.62326	D	0.03	-13.227	19.9228	0.97093	0.0:1.0:0.0:0.0	.	268	O14967	CLGN_HUMAN	Q	268;268;268;185	ENSP00000326699:E268Q;ENSP00000392782:E268Q;ENSP00000439381:E268Q	ENSP00000326699:E268Q	E	-	1	0	CLGN	141539537	1.000000	0.71417	0.990000	0.47175	0.812000	0.45895	7.776000	0.85560	2.709000	0.92574	0.637000	0.83480	GAA		0.408	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2		NM_004362		9	215	0	0	0	0.047766	0	9	215		
SMARCA5	8467	broad.mit.edu	37	4	144469207	144469207	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:144469207G>C	ENST00000283131.3	+	22	3361	c.2899G>C	c.(2899-2901)Gaa>Caa	p.E967Q		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	967	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.E967Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ATTTGACAAAGAAAATGTTTA	0.373																																						uc003ijg.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(1)	1						c.(2899-2901)GAA>CAA		SWI/SNF-related matrix-associated							88.0	86.0	86.0					4																	144469207		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144469207G>C	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2899G>C	4.37:g.144469207G>C	ENSP00000283131:p.Glu967Gln						p.E967Q	NM_003601	NP_003592	O60264	SMCA5_HUMAN			22	3361	+	all_hematologic(180;0.158)		967			SANT 2.			Missense_Mutation	SNP	ENST00000283131.3	37	c.2899G>C	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.695586	0.88830	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91740	-2.9	5.93	5.93	0.95920	SANT domain, DNA binding (1);SLIDE (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.94308	0.8171	M	0.89095	3.005	0.80722	D	1	B	0.28552	0.215	B	0.32762	0.152	D	0.92614	0.6102	10	0.72032	D	0.01	-0.4002	20.3368	0.98748	0.0:0.0:1.0:0.0	.	967	O60264	SMCA5_HUMAN	Q	967;910;910	ENSP00000283131:E967Q	ENSP00000283131:E967Q	E	+	1	0	SMARCA5	144688657	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.859000	0.99545	2.805000	0.96524	0.655000	0.94253	GAA		0.373	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3				27	69	0	0	0	0.099896	0	27	69		
ARFIP1	27236	broad.mit.edu	37	4	153791962	153791962	+	Missense_Mutation	SNP	G	G	A	rs142219628		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr4:153791962G>A	ENST00000451320.2	+	4	424	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000429148.2_Intron|ARFIP1_ENST00000356064.3_Intron|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000353617.2_Missense_Mutation_p.R87Q			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	87					intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)		p.R87Q(2)	ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GCAGCTAGTCGACTGGCTCAG	0.443																																						uc003imz.2		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(1)	1						c.(259-261)CGA>CAA		ADP-ribosylation factor interacting protein 1		G	,GLN/ARG,	0,4406		0,0,2203	118.0	103.0	108.0		,260,	-0.6	0.0	4	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron	ARFIP1	NM_001025593.1,NM_001025595.1,NM_014447.2	,43,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,benign,	,87/374,	153791962	1,13005	2203	4300	6503	SO:0001583	missense	27236				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane		g.chr4:153791962G>A	U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.260G>A	4.37:g.153791962G>A	ENSP00000395083:p.Arg87Gln					ARFIP1_uc003inb.2_Intron|ARFIP1_uc003ina.2_Intron|ARFIP1_uc003inc.2_Missense_Mutation_p.R87Q|ARFIP1_uc011cij.1_Intron	p.R87Q	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN			4	536	+	all_hematologic(180;0.093)		87					Q2M2X4|Q3SYL4|Q9Y2X6	Missense_Mutation	SNP	ENST00000451320.2	37	c.260G>A	CCDS34080.1	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157736	0.38119	0.0	1.16E-4	ENSG00000164144	ENST00000451320;ENST00000353617	T;T	0.78246	-1.16;-1.16	6.04	-0.596	0.11657	.	0.556355	0.16769	N	0.200287	T	0.65943	0.2740	L	0.47716	1.5	0.58432	D	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.49744	-0.8907	10	0.18276	T	0.48	0.4814	10.0454	0.42184	0.4789:0.0:0.5211:0.0	.	87	P53367	ARFP1_HUMAN	Q	87	ENSP00000395083:R87Q;ENSP00000296557:R87Q	ENSP00000296557:R87Q	R	+	2	0	ARFIP1	154011412	0.925000	0.31364	0.034000	0.17996	0.995000	0.86356	0.495000	0.22483	-0.493000	0.06678	0.563000	0.77884	CGA		0.443	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365032.1		NM_014447		19	66	0	0	0	0.049695	0	19	66		
ADCY2	108	broad.mit.edu	37	5	7817056	7817056	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:7817056C>T	ENST00000338316.4	+	23	3050	c.2961C>T	c.(2959-2961)atC>atT	p.I987I	ADCY2_ENST00000537121.1_Silent_p.I807I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	987					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)	p.I987I(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TGGATGCCATCAACAAGCACT	0.502											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003jdz.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(5)|pancreas(1)|skin(1)	7						c.(2959-2961)ATC>ATT		adenylate cyclase 2							210.0	160.0	177.0					5																	7817056		2203	4300	6503	SO:0001819	synonymous_variant	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7817056C>T	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.2961C>T	5.37:g.7817056C>T			OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	ADCY2_uc011cmo.1_Silent_p.I807I|ADCY2_uc010itm.1_Silent_p.I183I	p.I987I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN			23	3028	+			987			Cytoplasmic (Potential).		B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.2961C>T	CCDS3872.2																																																																																				0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546		15	52	0	0	0	0.132662	0	15	52		
MARCH6	10299	broad.mit.edu	37	5	10391798	10391798	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:10391798G>A	ENST00000274140.5	+	7	853	c.721G>A	c.(721-723)Gac>Aac	p.D241N	MARCH6_ENST00000449913.2_Missense_Mutation_p.D193N|MARCH6_ENST00000503788.1_Missense_Mutation_p.D136N	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	241					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D241N(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						ggaggaagatgaCGCTGGTGT	0.552																																						uc003jet.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)	2						c.(721-723)GAC>AAC		membrane-associated ring finger (C3HC4) 6							137.0	101.0	113.0					5																	10391798		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10391798G>A	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.721G>A	5.37:g.10391798G>A	ENSP00000274140:p.Asp241Asn					MARCH6_uc011cmu.1_Missense_Mutation_p.D193N|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.D136N	p.D241N	NM_005885	NP_005876	O60337	MARH6_HUMAN			7	904	+			241			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.721G>A	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121693	0.56613	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140	T;T;T	0.42900	2.0;0.96;1.98	5.92	5.92	0.95590	.	0.152553	0.64402	D	0.000014	T	0.32645	0.0836	N	0.21097	0.63	0.80722	D	1	B;B;B	0.28128	0.065;0.003;0.201	B;B;B	0.24848	0.056;0.003;0.055	T	0.06180	-1.0841	10	0.21014	T	0.42	-10.6051	19.9352	0.97137	0.0:0.0:1.0:0.0	.	136;193;241	B4DKJ2;B4DT33;O60337	.;.;MARH6_HUMAN	N	193;136;241	ENSP00000414643:D193N;ENSP00000425930:D136N;ENSP00000274140:D241N	ENSP00000274140:D241N	D	+	1	0	MARCH6	10444798	1.000000	0.71417	0.239000	0.24122	0.964000	0.63967	8.078000	0.89507	2.818000	0.97014	0.655000	0.94253	GAC		0.552	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2		NM_005885		6	18	0	0	0	0.021553	0	6	18		
C5orf42	65250	broad.mit.edu	37	5	37185055	37185055	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:37185055T>A	ENST00000508244.1	-	24	4409	c.4316A>T	c.(4315-4317)gAa>gTa	p.E1439V	C5orf42_ENST00000425232.2_Missense_Mutation_p.E1439V|C5orf42_ENST00000274258.7_Missense_Mutation_p.E320V			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1439						integral component of membrane (GO:0016021)		p.E320V(1)|p.E1439V(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGTTTCTCTTCTTCAATTGG	0.428																																						uc011cpa.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)	ovary(4)|breast(2)|skin(1)	7						c.(4315-4317)GAA>GTA		hypothetical protein LOC65250							146.0	131.0	136.0					5																	37185055		2203	4300	6503	SO:0001583	missense	65250							g.chr5:37185055T>A		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.4316A>T	5.37:g.37185055T>A	ENSP00000421690:p.Glu1439Val					C5orf42_uc011coy.1_5'Flank|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.E514V|C5orf42_uc011cpb.1_Missense_Mutation_p.E320V	p.E1439V	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		25	4547	-	all_lung(31;0.000616)		1439					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	ENST00000508244.1	37	c.4316A>T	CCDS34146.2	.	.	.	.	.	.	.	.	.	.	T	26.4	4.735010	0.89482	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	6.08	6.08	0.98989	.	0.127019	0.36134	N	0.002769	T	0.57227	0.2039	N	0.19112	0.55	0.39578	D	0.969399	P;D	0.56521	0.936;0.976	P;P	0.50405	0.512;0.64	T	0.64271	-0.6447	10	0.72032	D	0.01	.	6.761	0.23540	0.1357:0.0699:0.0:0.7944	.	1439;320	E9PH94;Q9H799	.;CE042_HUMAN	V	1439;1439;320;487;320	ENSP00000421690:E1439V;ENSP00000389014:E1439V;ENSP00000274258:E320V;ENSP00000424223:E487V	ENSP00000274258:E320V	E	-	2	0	C5orf42	37220812	0.998000	0.40836	0.998000	0.56505	0.989000	0.77384	2.149000	0.42244	2.333000	0.79357	0.482000	0.46254	GAA		0.428	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1		NM_023073		43	101	0	0	0	0.117977	0	43	101		
PAIP1	10605	broad.mit.edu	37	5	43533846	43533846	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:43533846C>T	ENST00000306846.3	-	9	1478	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	PAIP1_ENST00000514514.1_Missense_Mutation_p.D337N|PAIP1_ENST00000338972.4_Missense_Mutation_p.D304N|PAIP1_ENST00000436644.2_Missense_Mutation_p.D337N	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	416					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.D416N(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					ATACCTGGATCAGCTGCAGTG	0.358																																						uc003job.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(1246-1248)GAT>AAT		poly(A) binding protein interacting protein 1							178.0	181.0	180.0					5																	43533846		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43533846C>T	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1246G>A	5.37:g.43533846C>T	ENSP00000302768:p.Asp416Asn					PAIP1_uc003joa.2_Missense_Mutation_p.D337N|PAIP1_uc010ivp.2_Missense_Mutation_p.D337N|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Missense_Mutation_p.D304N	p.D416N	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN			9	1493	-	Lung NSC(6;2.07e-05)		416					A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.1246G>A	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	C	35	5.441456	0.96187	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000514816;ENST00000338972;ENST00000514514	T;T;T;T	0.42900	1.09;1.18;1.22;0.96	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.62380	0.2423	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.61926	-0.6962	10	0.72032	D	0.01	-19.4155	20.0609	0.97674	0.0:1.0:0.0:0.0	.	337;416;337	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	N	416;337;17;304;337	ENSP00000302768:D416N;ENSP00000387729:D337N;ENSP00000339622:D304N;ENSP00000425084:D337N	ENSP00000302768:D416N	D	-	1	0	PAIP1	43569603	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.082000	0.76851	2.755000	0.94549	0.655000	0.94253	GAT		0.358	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1		NM_006451		30	130	0	0	0	0.134883	0	30	130		
ZFYVE16	9765	broad.mit.edu	37	5	79732916	79732916	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:79732916C>T	ENST00000338008.5	+	3	592	c.412C>T	c.(412-414)Cat>Tat	p.H138Y	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.H138Y|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.H138Y	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	138					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)	p.H138Y(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TAACTTAGTTCATGCAACCAA	0.358																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(412-414)CAT>TAT		zinc finger, FYVE domain containing 16							126.0	138.0	134.0					5																	79732916		2203	4300	6503	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79732916C>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.412C>T	5.37:g.79732916C>T	ENSP00000337159:p.His138Tyr					ZFYVE16_uc010jak.1_Missense_Mutation_p.H138Y|ZFYVE16_uc003kgp.2_Missense_Mutation_p.H138Y|ZFYVE16_uc003kgq.3_Missense_Mutation_p.H138Y|ZFYVE16_uc003kgs.3_Missense_Mutation_p.H138Y	p.H138Y	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	4	714	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	138					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.412C>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.187772	0.38609	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.39229	1.09;1.09;1.09	5.01	4.15	0.48705	.	0.225511	0.31519	N	0.007504	T	0.48314	0.1493	L	0.60455	1.87	0.24518	N	0.994176	P;D	0.61080	0.83;0.989	P;P	0.50314	0.497;0.637	T	0.43718	-0.9374	10	0.32370	T	0.25	0.2401	14.9163	0.70801	0.1447:0.8553:0.0:0.0	.	138;138	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	Y	138	ENSP00000337159:H138Y;ENSP00000423663:H138Y;ENSP00000426848:H138Y	ENSP00000337159:H138Y	H	+	1	0	ZFYVE16	79768672	1.000000	0.71417	0.996000	0.52242	0.932000	0.56968	2.824000	0.48088	1.257000	0.44085	-0.355000	0.07637	CAT		0.358	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2		NM_014733		17	245	0	0	0	0.146539	0	17	245		
NR2F1	7025	broad.mit.edu	37	5	92929285	92929285	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:92929285G>A	ENST00000327111.3	+	3	2696	c.1009G>A	c.(1009-1011)Gat>Aat	p.D337N	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	337					cerebral cortex regionalization (GO:0021796)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|retinoic acid-responsive element binding (GO:0044323)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.D337N(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		TGGCCTGTCGGATGCGGCCCA	0.587																																						uc003kkj.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	urinary_tract(1)|ovary(1)|lung(1)	3						c.(1009-1011)GAT>AAT		nuclear receptor subfamily 2, group F, member 1							71.0	80.0	77.0					5																	92929285		2203	4300	6503	SO:0001583	missense	7025				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr5:92929285G>A	BC004154	CCDS4068.1	5q14	2013-01-16			ENSG00000175745	ENSG00000175745		"""Nuclear hormone receptors"""	7975	protein-coding gene	gene with protein product		132890		ERBAL3, TFCOUP1		8530078	Standard	NM_005654		Approved	EAR-3, COUP-TFI, TCFCOUP1, SVP44	uc003kkj.3	P10589	OTTHUMG00000119079	ENST00000327111.3:c.1009G>A	5.37:g.92929285G>A	ENSP00000325819:p.Asp337Asn						p.D337N	NM_005654	NP_005645	P10589	COT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)	3	2696	+		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	337						Missense_Mutation	SNP	ENST00000327111.3	37	c.1009G>A	CCDS4068.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.967466	0.74131	.	.	ENSG00000175745	ENST00000327111	T	0.50813	0.73	6.17	6.17	0.99709	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.050523	0.85682	D	0.000000	T	0.57080	0.2029	L	0.28054	0.825	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.42155	-0.9468	10	0.14252	T	0.57	.	20.4898	0.99202	0.0:0.0:1.0:0.0	.	337	P10589	COT1_HUMAN	N	337	ENSP00000325819:D337N	ENSP00000325819:D337N	D	+	1	0	NR2F1	92955041	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.010000	0.88615	2.941000	0.99782	0.655000	0.94253	GAT		0.587	NR2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239293.2		NM_005654		28	90	0	0	0	0.134883	0	28	90		
SLCO6A1	133482	broad.mit.edu	37	5	101834305	101834305	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:101834305C>G	ENST00000506729.1	-	1	415	c.244G>C	c.(244-246)Gat>Cat	p.D82H	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.D82H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.D82H|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.D82H|RP11-58B2.1_ENST00000502494.1_RNA|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.D82H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D82H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAACTGTCATCCACTTCTCCC	0.493																																						uc003knn.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(3)|central_nervous_system(1)	7						c.(244-246)GAT>CAT		solute carrier organic anion transporter family,							121.0	127.0	125.0					5																	101834305		2203	4300	6503	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834305C>G	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.244G>C	5.37:g.101834305C>G	ENSP00000421339:p.Asp82His					SLCO6A1_uc003kno.2_Missense_Mutation_p.D82H|SLCO6A1_uc003knp.2_Missense_Mutation_p.D82H|SLCO6A1_uc003knq.2_Missense_Mutation_p.D82H	p.D82H	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	416	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	82			Cytoplasmic (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.244G>C	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211746	0.39102	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.48201	0.85;0.85;0.89;0.82;0.82	3.52	-4.47	0.03525	.	3.478970	0.01044	N	0.004347	T	0.44456	0.1294	N	0.19112	0.55	0.09310	N	1	D;P;D	0.60160	0.981;0.93;0.987	P;P;P	0.62089	0.898;0.451;0.788	T	0.42361	-0.9456	10	0.46703	T	0.11	.	1.9699	0.03404	0.1548:0.4805:0.1564:0.2083	.	82;82;82	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	H	82	ENSP00000421339:D82H;ENSP00000369135:D82H;ENSP00000373671:D82H;ENSP00000421990:D82H;ENSP00000369138:D82H	ENSP00000369135:D82H	D	-	1	0	SLCO6A1	101862204	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.098000	0.15189	-1.005000	0.03417	-0.350000	0.07774	GAT		0.493	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1		NM_173488		61	115	0	0	0	0.139131	0	61	115		
TSSK1B	83942	broad.mit.edu	37	5	112770004	112770004	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:112770004G>A	ENST00000390666.3	-	1	724	c.533C>T	c.(532-534)tCa>tTa	p.S178L	CTD-2201G3.1_ENST00000510381.2_RNA|CTD-2201G3.1_ENST00000416046.2_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000383058.4_RNA	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	178	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	cytoplasmic vesicle (GO:0031410)|motile cilium (GO:0031514)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S178L(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		ATACGCTGGTGACCCACAGAA	0.567																																						uc003kqm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|skin(2)|stomach(1)	5						c.(532-534)TCA>TTA		testis-specific serine kinase 1							63.0	62.0	62.0					5																	112770004		2202	4300	6502	SO:0001583	missense	83942				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:112770004G>A	AF348076	CCDS4112.1	5q22.2	2008-10-23	2007-01-30	2007-01-30	ENSG00000212122	ENSG00000212122			14968	protein-coding gene	gene with protein product		610709	"""serine/threonine kinase 22D (spermiogenesis associated)"", ""testis-specific serine kinase 1"""	STK22D, TSSK1		15044604	Standard	NM_032028		Approved	SPOGA4, FKSG81	uc003kqm.2	Q9BXA7	OTTHUMG00000128835	ENST00000390666.3:c.533C>T	5.37:g.112770004G>A	ENSP00000375081:p.Ser178Leu					MCC_uc003kql.3_Intron	p.S178L	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)	1	725	-		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)	178			Protein kinase.		B2R8D9	Missense_Mutation	SNP	ENST00000390666.3	37	c.533C>T	CCDS4112.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925379	0.52759	.	.	ENSG00000212122	ENST00000390666	T	0.28666	1.6	1.24	1.24	0.21308	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.30383	U	0.009743	T	0.61248	0.2332	H	0.95679	3.705	0.31820	N	0.62613	D	0.89917	1.0	D	0.91635	0.999	T	0.67753	-0.5589	10	0.87932	D	0	.	7.9215	0.29848	0.0:0.0:1.0:0.0	.	178	Q9BXA7	TSSK1_HUMAN	L	178	ENSP00000375081:S178L	ENSP00000375081:S178L	S	-	2	0	TSSK1B	112797903	0.986000	0.35501	0.941000	0.38009	0.531000	0.34715	6.537000	0.73847	0.635000	0.30488	0.313000	0.20887	TCA		0.567	TSSK1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250774.2		NM_032028		7	28	0	0	0	0.038147	0	7	28		
MEGF10	84466	broad.mit.edu	37	5	126734416	126734416	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:126734416G>C	ENST00000274473.6	+	8	975	c.708G>C	c.(706-708)caG>caC	p.Q236H	MEGF10_ENST00000503335.2_Missense_Mutation_p.Q236H|MEGF10_ENST00000418761.2_Missense_Mutation_p.Q236H|MEGF10_ENST00000508365.1_Missense_Mutation_p.Q236H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	236	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.Q236H(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGTGTGAGCAGAGATGCCCTT	0.507																																						uc003kuh.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(706-708)CAG>CAC		multiple EGF-like-domains 10 precursor							245.0	179.0	201.0					5																	126734416		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126734416G>C	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.708G>C	5.37:g.126734416G>C	ENSP00000274473:p.Gln236His					MEGF10_uc010jdc.1_Missense_Mutation_p.Q236H|MEGF10_uc010jdd.1_Missense_Mutation_p.Q236H|MEGF10_uc003kui.3_Missense_Mutation_p.Q236H	p.Q236H	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	8	1070	+		Prostate(80;0.165)	236			Extracellular (Potential).|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.|EGF-like 4.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.708G>C	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270202	0.40194	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.61274	0.12;0.12;0.12;0.12	5.9	5.03	0.67393	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.151159	0.41294	D	0.000910	T	0.51753	0.1693	L	0.56769	1.78	0.36015	D	0.838322	B;B	0.06786	0.001;0.001	B;B	0.11329	0.003;0.006	T	0.57069	-0.7874	10	0.41790	T	0.15	-7.6691	9.4379	0.38650	0.211:0.0:0.789:0.0	.	236;236	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	H	236	ENSP00000423354:Q236H;ENSP00000423195:Q236H;ENSP00000416284:Q236H;ENSP00000274473:Q236H	ENSP00000274473:Q236H	Q	+	3	2	MEGF10	126762315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.894000	0.56250	1.499000	0.48617	0.650000	0.86243	CAG		0.507	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2		NM_032446		23	71	0	0	0	0.069288	0	23	71		
FCHSD1	89848	broad.mit.edu	37	5	141025388	141025388	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:141025388C>G	ENST00000435817.2	-	13	1311	c.1261G>C	c.(1261-1263)Gag>Cag	p.E421Q	FCHSD1_ENST00000522783.1_Splice_Site_p.E347Q|FCHSD1_ENST00000522126.1_Missense_Mutation_p.E345Q|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	421								p.E421Q(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCCGCTCCTGCTCCACC	0.642																																						uc003llk.2		NaN																FCHSD1/BRAF(2)	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1261-1263)GAG>CAG		FCH and double SH3 domains 1							13.0	16.0	15.0					5																	141025388		1970	4135	6105	SO:0001583	missense	89848							g.chr5:141025388C>G	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1261G>C	5.37:g.141025388C>G	ENSP00000399259:p.Glu421Gln					FCHSD1_uc010jgg.2_Missense_Mutation_p.E104Q|FCHSD1_uc003llj.2_RNA	p.E421Q	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1312	-			421					Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.1261G>C	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.597921	0.87055	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783;ENST00000518499	T;T;T	0.51325	1.61;0.71;1.52	5.71	4.84	0.62591	.	1.245070	0.06047	N	0.655920	T	0.70002	0.3174	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.80764	0.994;0.985	T	0.52815	-0.8525	10	0.56958	D	0.05	-20.1342	13.6397	0.62243	0.0:0.9243:0.0:0.0757	.	101;421	Q86WN1-2;Q86WN1	.;FCSD1_HUMAN	Q	421;345;347;104	ENSP00000399259:E421Q;ENSP00000427796:E345Q;ENSP00000428677:E347Q	ENSP00000399259:E421Q	E	-	1	0	FCHSD1	141005572	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	6.740000	0.74832	1.415000	0.47037	0.557000	0.71058	GAG		0.642	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2		NM_033449		4	9	0	0	0	0.047766	0	4	9		
GABRB2	2561	broad.mit.edu	37	5	160758051	160758051	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:160758051C>T	ENST00000393959.1	-	8	915	c.916G>A	c.(916-918)Gac>Aac	p.D306N	GABRB2_ENST00000353437.6_Missense_Mutation_p.D306N|GABRB2_ENST00000517901.1_Missense_Mutation_p.D243N|GABRB2_ENST00000517547.1_Missense_Mutation_p.D146N|GABRB2_ENST00000274547.2_Missense_Mutation_p.D306N|GABRB2_ENST00000520240.1_Missense_Mutation_p.D306N			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	306	Allosteric effector binding. {ECO:0000250}.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)	p.D306N(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGGTACATGTCAATGGCCTTC	0.483																																						uc003lys.1		NaN																	2	Substitution - Missense(2)		urinary_tract(2)		0						c.(916-918)GAC>AAC		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						158.0	162.0	160.0					5																	160758051		2203	4300	6503	SO:0001583	missense	2561				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160758051C>T		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.916G>A	5.37:g.160758051C>T	ENSP00000377531:p.Asp306Asn					GABRB2_uc011deh.1_Missense_Mutation_p.D145N|GABRB2_uc003lyr.1_Missense_Mutation_p.D306N|GABRB2_uc003lyt.1_Missense_Mutation_p.D306N|GABRB2_uc010jiu.1_Missense_Mutation_p.D243N	p.D306N	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		9	1134	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	306			Helical; (Probable).		A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Missense_Mutation	SNP	ENST00000393959.1	37	c.916G>A	CCDS4355.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398705	0.96030	.	.	ENSG00000145864	ENST00000393959;ENST00000274547;ENST00000353437;ENST00000520240;ENST00000517901;ENST00000517547	D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.26	5.26	0.73747	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.051139	0.85682	D	0.000000	D	0.94318	0.8174	M	0.84433	2.695	0.80722	D	1	D;D;D;D	0.89917	0.999;0.995;1.0;1.0	D;D;D;D	0.97110	0.958;0.996;1.0;0.993	D	0.95009	0.8150	10	0.87932	D	0	.	18.8686	0.92303	0.0:1.0:0.0:0.0	.	146;243;306;306	B7Z279;E7EV50;P47870;P47870-1	.;.;GBRB2_HUMAN;.	N	306;306;306;306;243;146	ENSP00000377531:D306N;ENSP00000274547:D306N;ENSP00000274546:D306N;ENSP00000429320:D306N;ENSP00000430532:D243N;ENSP00000429750:D146N	ENSP00000274547:D306N	D	-	1	0	GABRB2	160690629	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.726000	0.84824	2.451000	0.82905	0.563000	0.77884	GAC		0.483	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1				58	134	0	0	0	0.139131	0	58	134		
PDLIM7	9260	broad.mit.edu	37	5	176910713	176910713	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:176910713C>G	ENST00000355841.2	-	13	1372	c.1306G>C	c.(1306-1308)Gaa>Caa	p.E436Q	PDLIM7_ENST00000505746.1_5'Flank|PDLIM7_ENST00000359895.2_Missense_Mutation_p.E402Q|PDLIM7_ENST00000356618.4_3'UTR	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	436	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)	p.E436Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCTTTCCTTCCAGGTTGATC	0.587																																						uc003mhc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(1306-1308)GAA>CAA		PDZ and LIM domain 7 isoform 1							72.0	67.0	69.0					5																	176910713		2203	4300	6503	SO:0001583	missense	9260				cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding	g.chr5:176910713C>G	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.1306G>C	5.37:g.176910713C>G	ENSP00000348099:p.Glu436Gln					PDLIM7_uc003mha.1_Missense_Mutation_p.E330Q|PDLIM7_uc003mhb.1_Missense_Mutation_p.E402Q|PDLIM7_uc003mhd.1_Missense_Mutation_p.E288Q|PDLIM7_uc003mhe.1_RNA	p.E436Q	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		13	1391	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	436			LIM zinc-binding 3.		Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	ENST00000355841.2	37	c.1306G>C	CCDS4422.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361475	0.82353	.	.	ENSG00000196923	ENST00000359895;ENST00000355841	D;D	0.87809	-2.3;-2.3	5.4	4.52	0.55395	Zinc finger, LIM-type (4);	0.000000	0.64402	D	0.000004	D	0.89897	0.6848	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.89429	0.3715	10	0.46703	T	0.11	.	14.2573	0.66060	0.0:0.9256:0.0:0.0744	.	436;402	Q9NR12;Q9NR12-2	PDLI7_HUMAN;.	Q	402;436	ENSP00000352964:E402Q;ENSP00000348099:E436Q	ENSP00000348099:E436Q	E	-	1	0	PDLIM7	176843319	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.672000	0.83956	2.559000	0.86315	0.555000	0.69702	GAA		0.587	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1		NM_005451		6	27	0	0	0	0.021553	0	6	27		
TBC1D9B	23061	broad.mit.edu	37	5	179318451	179318451	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr5:179318451G>A	ENST00000356834.3	-	6	1009	c.972C>T	c.(970-972)ttC>ttT	p.F324F	TBC1D9B_ENST00000355235.3_Silent_p.F324F	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	324	GRAM 2.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.F324F(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTGGAGATGAACATCTGGC	0.597																																						uc003mlh.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	breast(1)|skin(1)	2						c.(970-972)TTC>TTT		TBC1 domain family, member 9B (with GRAM domain)							142.0	134.0	136.0					5																	179318451		2203	4300	6503	SO:0001819	synonymous_variant	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179318451G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.972C>T	5.37:g.179318451G>A						TBC1D9B_uc003mli.2_Silent_p.F324F|TBC1D9B_uc003mlj.2_Silent_p.F324F	p.F324F	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	1009	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	324			GRAM 2.		D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	ENST00000356834.3	37	c.972C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301380	0.23736	.	.	ENSG00000197226	ENST00000524222	.	.	.	4.96	4.07	0.47477	.	.	.	.	.	T	0.54663	0.1872	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51826	-0.8656	4	.	.	.	-24.0004	5.3798	0.16186	0.358:0.0:0.642:0.0	.	.	.	.	L	54	.	.	S	-	2	0	TBC1D9B	179251057	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.559000	0.36320	1.284000	0.44531	0.561000	0.74099	TCA		0.597	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3		NM_015043		32	61	0	0	0	0.054565	0	32	61		
DSP	1832	broad.mit.edu	37	6	7581491	7581491	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:7581491G>A	ENST00000379802.3	+	23	5409	c.5068G>A	c.(5068-5070)Gaa>Aaa	p.E1690K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1690	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E1690K(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAAGGCGATAGAAGATAAAAG	0.458																																						uc003mxp.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(6)|ovary(2)|skin(1)	9						c.(5068-5070)GAA>AAA		desmoplakin isoform I							87.0	94.0	92.0					6																	7581491		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581491G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5068G>A	6.37:g.7581491G>A	ENSP00000369129:p.Glu1690Lys					DSP_uc003mxq.1_Intron	p.E1690K	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	5347	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1690			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.5068G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228673	0.58777	.	.	ENSG00000096696	ENST00000379802	D	0.82893	-1.66	6.02	6.02	0.97574	.	0.000000	0.64402	D	0.000004	D	0.87224	0.6124	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.84415	0.0568	10	0.39692	T	0.17	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	1690	P15924	DESP_HUMAN	K	1690	ENSP00000369129:E1690K	ENSP00000369129:E1690K	E	+	1	0	DSP	7526490	1.000000	0.71417	0.725000	0.30721	0.032000	0.12392	7.863000	0.87023	2.865000	0.98341	0.655000	0.94253	GAA		0.458	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2		NM_004415		31	57	0	0	0	0.134883	0	31	57		
HIST1H3I	8354	broad.mit.edu	37	6	27839872	27839872	+	Silent	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:27839872C>T	ENST00000328488.2	-	1	227	c.222G>A	c.(220-222)gaG>gaA	p.E74E		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	74					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E74E(1)		endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCTGTGCGATCTCCCGTACCA	0.622																																						uc003njy.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(1)	1						c.(220-222)GAG>GAA		histone cluster 1, H3i							83.0	88.0	87.0					6																	27839872		2203	4300	6503	SO:0001819	synonymous_variant	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839872C>T	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.222G>A	6.37:g.27839872C>T							p.E74E	NM_003533	NP_003524	P68431	H31_HUMAN			1	228	-			74					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Silent	SNP	ENST00000328488.2	37	c.222G>A	CCDS4636.1																																																																																				0.622	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1		NM_003533		28	38	0	0	0	0.116897	0	28	38		
BAG6	7917	broad.mit.edu	37	6	31617000	31617000	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:31617000G>A	ENST00000375964.6	-	4	712	c.399C>T	c.(397-399)gtC>gtT	p.V133V	BAG6_ENST00000439687.2_Silent_p.V133V|BAG6_ENST00000375976.4_Silent_p.V133V|BAG6_ENST00000404765.2_Silent_p.V133V|BAG6_ENST00000211379.5_Silent_p.V133V|BAG6_ENST00000362049.6_Silent_p.V133V	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	133					brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)	p.V133V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						TTCCAACCATGACATAGCTGT	0.552																																						uc003nvg.3		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(397-399)GTC>GTT		HLA-B associated transcript-3 isoform a							121.0	141.0	134.0					6																	31617000		1510	2709	4219	SO:0001819	synonymous_variant	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31617000G>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.399C>T	6.37:g.31617000G>A						BAT3_uc003nvf.3_Silent_p.V133V|BAT3_uc003nvh.3_Silent_p.V133V|BAT3_uc003nvi.3_Silent_p.V133V|BAT3_uc011dnw.1_Silent_p.V133V|BAT3_uc011dnx.1_Silent_p.V133V|BAT3_uc003nvj.1_Silent_p.V133V	p.V133V	NM_004639	NP_004630	P46379	BAG6_HUMAN			4	713	-			133					A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Silent	SNP	ENST00000375964.6	37	c.399C>T	CCDS47403.1																																																																																				0.552	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_080703		45	67	0	0	0	0.117977	0	45	67		
TNXB	7148	broad.mit.edu	37	6	32017875	32017875	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:32017875G>A	ENST00000375244.3	-	27	9540	c.9339C>T	c.(9337-9339)gtC>gtT	p.V3113V	TNXB_ENST00000375247.2_Silent_p.V3111V			P22105	TENX_HUMAN	tenascin XB	3158	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.V3113V(1)|p.V3178V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGAGATGGTGACCCCGTCCT	0.632																																						uc003nzl.2		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)		0						c.(9331-9333)GTC>GTT		tenascin XB isoform 1 precursor							59.0	64.0	63.0					6																	32017875		1204	2505	3709	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32017875G>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.9339C>T	6.37:g.32017875G>A							p.V3111V	NM_019105	NP_061978	P22105	TENX_HUMAN			27	9535	-			3158			Fibronectin type-III 23.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.9333C>T																																																																																					0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2		NM_019105		15	14	0	0	0	0.0333	0	15	14		
PPP2R5D	5528	broad.mit.edu	37	6	42978430	42978430	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:42978430G>C	ENST00000485511.1	+	14	1689	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.E496Q|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.E472Q|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.E398Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	504					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|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)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.E504Q(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGAAAGGGAAGAGATGTGGCA	0.542																																					Melanoma(63;587 1613 29742 31770)	uc003oth.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)|central_nervous_system(1)	2						c.(1510-1512)GAG>CAG		delta isoform of regulatory subunit B56, protein							72.0	77.0	76.0					6																	42978430		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42978430G>C	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1510G>C	6.37:g.42978430G>C	ENSP00000417963:p.Glu504Gln					MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Missense_Mutation_p.E472Q|PPP2R5D_uc010jyd.2_Missense_Mutation_p.E398Q|PPP2R5D_uc011dva.1_Missense_Mutation_p.E353Q|PPP2R5D_uc003oti.2_Missense_Mutation_p.E353Q|PPP2R5D_uc003otj.2_Missense_Mutation_p.E335Q	p.E504Q	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		14	1596	+			504					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.1510G>C	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.21|17.21	3.331437|3.331437	0.60853|0.60853	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467;ENST00000486843	T;T;T;T|.	0.49139|.	0.8;0.79;0.79;0.8|.	5.93|5.93	5.06|5.06	0.68205|0.68205	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.62171|0.62171	0.2406|0.2406	M|M	0.68728|0.68728	2.09|2.09	0.52501|0.52501	D|D	0.999954|0.999954	B;B;B;B|.	0.30146|.	0.113;0.27;0.168;0.067|.	B;B;B;B|.	0.28232|.	0.083;0.083;0.087;0.024|.	T|T	0.64253|0.64253	-0.6451|-0.6451	10|5	0.45353|.	T|.	0.12|.	-28.2873|-28.2873	13.4003|13.4003	0.60879|0.60879	0.0:0.1208:0.7535:0.1257|0.0:0.1208:0.7535:0.1257	.|.	398;486;504;472|.	Q14738-3;F5GYS1;Q14738;Q14738-2|.	.;.;2A5D_HUMAN;.|.	Q|T	504;472;496;486;398|405;135	ENSP00000417963:E504Q;ENSP00000377669:E472Q;ENSP00000420550:E496Q;ENSP00000420674:E398Q|.	ENSP00000377669:E472Q|.	E|R	+|+	1|2	0|0	PPP2R5D|PPP2R5D	43086408|43086408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.869000|9.869000	0.99810|0.99810	1.498000|1.498000	0.48600|0.48600	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.542	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3		NM_006245		22	38	0	0	0	0.069288	0	22	38		
CUL9	23113	broad.mit.edu	37	6	43156401	43156401	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:43156401G>C	ENST00000252050.4	+	8	2212	c.2128G>C	c.(2128-2130)Gag>Cag	p.E710Q	CUL9_ENST00000372647.2_Missense_Mutation_p.E710Q|CUL9_ENST00000354495.3_Missense_Mutation_p.E600Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	710					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)	p.E710Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCAGGCTGTGGAGGAGGTCAC	0.577																																						uc003ouk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(2128-2130)GAG>CAG		p53-associated parkin-like cytoplasmic protein							78.0	69.0	72.0					6																	43156401		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43156401G>C	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2128G>C	6.37:g.43156401G>C	ENSP00000252050:p.Glu710Gln					CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Missense_Mutation_p.E710Q|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR	p.E710Q	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			8	2203	+			710					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.2128G>C	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994328	0.74703	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.38722	1.12;1.12;1.12	4.75	4.75	0.60458	Armadillo-type fold (1);	0.108216	0.38492	N	0.001678	T	0.27098	0.0664	N	0.19112	0.55	0.39573	D	0.969305	D;D	0.53885	0.963;0.963	P;P	0.49999	0.628;0.628	T	0.07443	-1.0772	10	0.51188	T	0.08	-21.053	14.759	0.69590	0.0:0.0:1.0:0.0	.	710;710	E9PEZ1;Q8IWT3	.;CUL9_HUMAN	Q	710;600;710	ENSP00000252050:E710Q;ENSP00000346490:E600Q;ENSP00000361730:E710Q	ENSP00000252050:E710Q	E	+	1	0	CUL9	43264379	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.377000	0.66184	2.447000	0.82792	0.563000	0.77884	GAG		0.577	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089		15	22	0	0	0	0.11911	0	15	22		
COL12A1	1303	broad.mit.edu	37	6	75843060	75843060	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:75843060G>T	ENST00000322507.8	-	34	6052	c.5743C>A	c.(5743-5745)Ccc>Acc	p.P1915T	COL12A1_ENST00000345356.6_Missense_Mutation_p.P751T|COL12A1_ENST00000416123.2_Missense_Mutation_p.P1915T|COL12A1_ENST00000483888.2_Missense_Mutation_p.P1915T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1915	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P1915T(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTATAAACGGGAACTACAGTC	0.373																																						uc003phs.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(5743-5745)CCC>ACC		collagen, type XII, alpha 1 long isoform							126.0	118.0	120.0					6																	75843060		1873	4100	5973	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75843060G>T	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.5743C>A	6.37:g.75843060G>T	ENSP00000325146:p.Pro1915Thr					COL12A1_uc003pht.2_Missense_Mutation_p.P751T	p.P1915T	NM_004370	NP_004361	Q99715	COCA1_HUMAN			34	5909	-			1915			Fibronectin type-III 14.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.5743C>A	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.970158	0.53614	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.63	4.74	0.60224	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.079566	0.53938	D	0.000054	T	0.65533	0.2700	M	0.82716	2.605	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.73852	-0.3852	10	0.72032	D	0.01	.	16.7509	0.85485	0.0:0.1293:0.8707:0.0	.	751;1915	Q99715-2;Q99715	.;COCA1_HUMAN	T	1915;1915;751;1915;1915	ENSP00000325146:P1915T;ENSP00000305147:P751T;ENSP00000412864:P1915T;ENSP00000421216:P1915T	ENSP00000325146:P1915T	P	-	1	0	COL12A1	75899780	1.000000	0.71417	0.995000	0.50966	0.055000	0.15305	9.030000	0.93725	1.459000	0.47892	0.650000	0.86243	CCC		0.373	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3		NM_004370		27	59	1	0	5.61819e-17	0.108266	6.31302e-17	27	59		
RIPPLY2	134701	broad.mit.edu	37	6	84563822	84563822	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr6:84563822G>A	ENST00000369689.1	+	3	332	c.181G>A	c.(181-183)Gat>Aat	p.D61N	RIPPLY2_ENST00000369687.1_Missense_Mutation_p.D3N	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	61					bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756)	nucleus (GO:0005634)		p.D61N(1)		large_intestine(2)|lung(4)|urinary_tract(1)	7						CCAGATGCCCGATGGCCCTGG	0.577																																						uc003pke.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(181-183)GAT>AAT		ripply2 protein							108.0	100.0	103.0					6																	84563822		2203	4300	6503	SO:0001583	missense	134701				somite rostral/caudal axis specification	nucleus		g.chr6:84563822G>A	BC130460	CCDS34493.1	6q14.2	2013-07-23	2013-07-23	2008-05-07	ENSG00000203877	ENSG00000203877			21390	protein-coding gene	gene with protein product		609891	"""chromosome 6 open reading frame 159"", ""ripply2 homolog (zebrafish)"""	C6orf159			Standard	NM_001009994		Approved	dJ237I15.1	uc003pke.3	Q5TAB7	OTTHUMG00000015117	ENST00000369689.1:c.181G>A	6.37:g.84563822G>A	ENSP00000358703:p.Asp61Asn						p.D61N	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN			3	332	+			61					Q5TAB6	Missense_Mutation	SNP	ENST00000369689.1	37	c.181G>A	CCDS34493.1	.	.	.	.	.	.	.	.	.	.	G	5.773	0.326999	0.10900	.	.	ENSG00000203877	ENST00000369689;ENST00000369687	.	.	.	4.29	-2.3	0.06785	.	5.811590	0.00465	N	0.000108	T	0.08714	0.0216	N	0.25647	0.755	0.09310	N	1	B	0.17465	0.022	B	0.09377	0.004	T	0.06041	-1.0849	9	0.15952	T	0.53	-0.0403	4.0672	0.09866	0.4261:0.0:0.3181:0.2558	.	61	Q5TAB7	RIPP2_HUMAN	N	61;3	.	ENSP00000358701:D3N	D	+	1	0	RIPPLY2	84620541	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.291000	0.08343	-0.868000	0.04058	-0.263000	0.10527	GAT		0.577	RIPPLY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041360.1		NM_001009994		17	34	0	0	0	0.049695	0	17	34		
DGKB	1607	broad.mit.edu	37	7	14733765	14733765	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:14733765G>A	ENST00000403951.2	-	9	1065	c.646C>T	c.(646-648)Ctg>Ttg	p.L216L	DGKB_ENST00000406247.3_Silent_p.L216L|DGKB_ENST00000399322.3_Silent_p.L216L|DGKB_ENST00000407950.1_Silent_p.L209L|DGKB_ENST00000444700.2_Silent_p.L209L|DGKB_ENST00000402815.1_Silent_p.L216L|DGKB_ENST00000258767.5_Silent_p.L216L|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	216	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.L216L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CATTCCTCCAGAGACACGGTT	0.443																																						uc003ssz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(646-648)CTG>TTG		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						76.0	73.0	74.0					7																	14733765		1944	4157	6101	SO:0001819	synonymous_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14733765G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.646C>T	7.37:g.14733765G>A						DGKB_uc011jxt.1_Silent_p.L209L|DGKB_uc003sta.2_Silent_p.L216L|DGKB_uc011jxu.1_Silent_p.L216L|DGKB_uc011jxv.1_Silent_p.L216L	p.L216L	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			8	833	-			216			EF-hand 2.|2 (Potential).		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.646C>T	CCDS47547.1																																																																																				0.443	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2		NM_004080		6	7	0	0	0	0.038147	0	6	7		
AHR	196	broad.mit.edu	37	7	17378911	17378911	+	Nonsense_Mutation	SNP	G	G	T	rs544271397		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:17378911G>T	ENST00000242057.4	+	10	2105	c.1462G>T	c.(1462-1464)Gaa>Taa	p.E488*	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	488					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E488*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CTTTTTCAACGAATCTATGAA	0.398																																						uc011jxz.1		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	urinary_tract(1)|kidney(1)|pancreas(1)	3						c.(1462-1464)GAA>TAA		aryl hydrocarbon receptor precursor							85.0	85.0	85.0					7																	17378911		2203	4300	6503	SO:0001587	stop_gained	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17378911G>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1462G>T	7.37:g.17378911G>T	ENSP00000242057:p.Glu488*					AHR_uc003stt.3_RNA	p.E488*	NM_001621	NP_001612	P35869	AHR_HUMAN			10	2075	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		488					A4D130|Q13728|Q13803|Q13804	Nonsense_Mutation	SNP	ENST00000242057.4	37	c.1462G>T	CCDS5366.1	.	.	.	.	.	.	.	.	.	.	G	37	6.234790	0.97399	.	.	ENSG00000106546	ENST00000242057	.	.	.	6.02	0.72	0.18214	.	1.168480	0.05911	N	0.631596	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	7.0055	0.24833	0.2062:0.3386:0.4552:0.0	.	.	.	.	X	488	.	ENSP00000242057:E488X	E	+	1	0	AHR	17345436	0.018000	0.18449	0.000000	0.03702	0.005000	0.04900	1.700000	0.37815	-0.145000	0.11294	-0.172000	0.13284	GAA		0.398	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2		NM_001621		44	122	1	0	8.01111e-26	0.117977	9.13094e-26	44	122		
GTF2IRD1	9569	broad.mit.edu	37	7	73933938	73933938	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:73933938G>C	ENST00000265755.3	+	6	1198	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E269Q|GTF2IRD1_ENST00000476977.1_Missense_Mutation_p.E269Q|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E301Q|GTF2IRD1_ENST00000489094.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	269					multicellular organismal development (GO:0007275)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transition between slow and fast fiber (GO:0014886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E269Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGCCATCCGAGAGCTCAAGCA	0.687																																						uc003uaq.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(4)	4						c.(805-807)GAG>CAG		GTF2I repeat domain containing 1 isoform 1							54.0	48.0	50.0					7																	73933938		2203	4300	6503	SO:0001583	missense	9569					nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr7:73933938G>C	AF151354	CCDS5571.1, CCDS47613.1, CCDS56492.1	7q11.23	2008-04-18	2002-01-14		ENSG00000006704	ENSG00000006704			4661	protein-coding gene	gene with protein product	"""binding factor for early enhancer"""	604318	"""GTF2I repeat domain-containing 1"""	WBSCR11		9774679, 10198167	Standard	NM_016328		Approved	MusTRD1, RBAP2, GTF3, WBSCR12, BEN, Cream1	uc010lbq.3	Q9UHL9	OTTHUMG00000023782	ENST00000265755.3:c.805G>C	7.37:g.73933938G>C	ENSP00000265755:p.Glu269Gln					GTF2IRD1_uc010lbq.2_Missense_Mutation_p.E301Q|GTF2IRD1_uc003uap.2_Missense_Mutation_p.E269Q|GTF2IRD1_uc003uar.1_Missense_Mutation_p.E269Q	p.E269Q	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN			6	1198	+			269					O95444|Q6DSU6|Q75MX7|Q86UM3|Q8WVC4|Q9UHK8|Q9UI91	Missense_Mutation	SNP	ENST00000265755.3	37	c.805G>C	CCDS5571.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992032	0.74703	.	.	ENSG00000006704	ENST00000265755;ENST00000455841;ENST00000424337;ENST00000476977	T;T;T;T	0.34859	1.35;1.34;1.35;1.34	4.91	3.99	0.46301	.	0.053009	0.64402	D	0.000001	T	0.41488	0.1161	L	0.27053	0.805	0.40596	D	0.981532	P;P;D;D	0.63880	0.941;0.89;0.993;0.991	P;B;P;P	0.61275	0.616;0.34;0.827;0.886	T	0.31475	-0.9942	10	0.46703	T	0.11	-16.8325	11.9398	0.52894	0.0:0.0:0.826:0.174	.	301;269;269;269	Q6DSU6;E9PFE2;Q9UHL9;Q9UHL9-2	.;.;GT2D1_HUMAN;.	Q	269;301;269;269	ENSP00000265755:E269Q;ENSP00000397566:E301Q;ENSP00000408477:E269Q;ENSP00000418383:E269Q	ENSP00000265755:E269Q	E	+	1	0	GTF2IRD1	73571874	1.000000	0.71417	0.849000	0.33467	0.984000	0.73092	6.355000	0.73041	1.122000	0.41944	0.561000	0.74099	GAG		0.687	GTF2IRD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252654.2		NM_016328		12	45	0	0	0	0.09319	0	12	45		
SSC4D	136853	broad.mit.edu	37	7	76033741	76033741	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:76033741C>T	ENST00000275560.3	-	2	363	c.16G>A	c.(16-18)Gag>Aag	p.E6K	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1												p.E6K(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						ATTAGCATCTCTGCTTCCTTG	0.542																																						uc003ufb.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	pancreas(1)	1						c.(16-18)GAG>AAG		scavenger receptor cysteine rich domain							136.0	128.0	131.0					7																	76033741		2203	4300	6503	SO:0001583	missense	136853					extracellular region|membrane	scavenger receptor activity	g.chr7:76033741C>T																												ENST00000275560.3:c.16G>A	7.37:g.76033741C>T	ENSP00000275560:p.Glu6Lys					ZP3_uc003ufc.3_Intron	p.E6K	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN			2	364	-			6						Missense_Mutation	SNP	ENST00000275560.3	37	c.16G>A	CCDS5585.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297007	0.60086	.	.	ENSG00000146700	ENST00000275560	T	0.01272	5.07	4.99	4.09	0.47781	.	0.826433	0.10648	N	0.650169	T	0.02342	0.0072	L	0.59436	1.845	0.80722	D	1	B	0.31318	0.319	B	0.24155	0.051	T	0.51710	-0.8671	10	0.62326	D	0.03	.	11.4779	0.50308	0.0:0.8188:0.1812:0.0	.	6	Q8WTU2	SRB4D_HUMAN	K	6	ENSP00000275560:E6K	ENSP00000275560:E6K	E	-	1	0	SRCRB4D	75871677	1.000000	0.71417	0.507000	0.27676	0.225000	0.24961	2.031000	0.41117	1.443000	0.47586	0.552000	0.68991	GAG		0.542	SRCRB4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253001.3				10	71	0	0	0	0.058154	0	10	71		
RSBN1L	222194	broad.mit.edu	37	7	77408178	77408178	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:77408178C>G	ENST00000334955.8	+	8	2261	c.2234C>G	c.(2233-2235)tCt>tGt	p.S745C	RSBN1L_ENST00000445288.1_Missense_Mutation_p.S475C	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	745						nucleus (GO:0005634)		p.S745C(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAACTTCATTCTAAATATGAA	0.363																																						uc010ldt.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)	1						c.(2233-2235)TCT>TGT		round spermatid basic protein 1-like							84.0	77.0	79.0					7																	77408178		1839	4094	5933	SO:0001583	missense	222194					nucleus		g.chr7:77408178C>G	AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.2234C>G	7.37:g.77408178C>G	ENSP00000334040:p.Ser745Cys					RSBN1L_uc003ugm.2_Missense_Mutation_p.S527C	p.S745C	NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN			8	2278	+			745					C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	ENST00000334955.8	37	c.2234C>G	CCDS43607.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.602742	0.66445	.	.	ENSG00000187257	ENST00000334955;ENST00000445288	.	.	.	5.84	5.84	0.93424	.	0.284054	0.30781	N	0.008887	T	0.65322	0.2680	L	0.36672	1.1	0.35850	D	0.826703	D	0.67145	0.996	P	0.56514	0.8	T	0.72114	-0.4388	9	0.87932	D	0	-7.0096	19.757	0.96298	0.0:1.0:0.0:0.0	.	745	Q6PCB5	RSBNL_HUMAN	C	745;475	.	ENSP00000334040:S745C	S	+	2	0	RSBN1L	77246114	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.357000	0.66058	2.779000	0.95612	0.591000	0.81541	TCT		0.363	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340455.3		NM_198467		35	85	0	0	0	0.050027	0	35	85		
ACN9	57001	broad.mit.edu	37	7	96810512	96810512	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:96810512G>C	ENST00000432641.2	+	2	1497	c.363G>C	c.(361-363)atG>atC	p.M121I	ACN9_ENST00000360382.4_3'UTR|ACN9_ENST00000479853.1_3'UTR	NM_020186.2	NP_064571.1			ACN9 homolog (S. cerevisiae)									p.M121I(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					CTGAGTCTATGAAACCAAAAT	0.318																																						uc003uoo.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)		0						c.(361-363)ATG>ATC		ACN9 homolog precursor							39.0	42.0	41.0					7																	96810512		2203	4300	6503	SO:0001583	missense	57001				regulation of gluconeogenesis	mitochondrial intermembrane space		g.chr7:96810512G>C	BC028409	CCDS5648.1	7q22.1	2006-02-09			ENSG00000196636	ENSG00000196636			21752	protein-coding gene	gene with protein product		615773					Standard	NM_020186		Approved	DC11	uc003uoo.4	Q9NRP4	OTTHUMG00000154064	ENST00000432641.2:c.363G>C	7.37:g.96810512G>C	ENSP00000414066:p.Met121Ile						p.M121I	NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN			2	1494	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)		121						Missense_Mutation	SNP	ENST00000432641.2	37	c.363G>C	CCDS5648.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057447	0.19907	.	.	ENSG00000196636	ENST00000432641	.	.	.	5.13	-7.68	0.01268	.	0.680627	0.14978	N	0.287451	T	0.14313	0.0346	N	0.22421	0.69	0.22982	N	0.998475	B	0.02656	0.0	B	0.01281	0.0	T	0.08207	-1.0733	9	0.34782	T	0.22	-0.9828	1.8135	0.03096	0.4084:0.2212:0.261:0.1094	.	121	Q9NRP4	ACN9_HUMAN	I	121	.	ENSP00000414066:M121I	M	+	3	0	ACN9	96648448	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.507000	0.06352	-0.970000	0.03569	-1.239000	0.01543	ATG		0.318	ACN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333685.3		NM_020186		9	30	0	0	0	0.058154	0	9	30		
OR2F2	135948	broad.mit.edu	37	7	143633147	143633147	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr7:143633147C>G	ENST00000408955.2	+	1	889	c.822C>G	c.(820-822)atC>atG	p.I274M		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I274M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					AGAAGCTGATCTCTGTCTTCT	0.483																																						uc011ktv.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(3)|skin(1)	4						c.(820-822)ATC>ATG		olfactory receptor, family 2, subfamily F,							100.0	101.0	101.0					7																	143633147		2197	4300	6497	SO:0001583	missense	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143633147C>G		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.822C>G	7.37:g.143633147C>G	ENSP00000386222:p.Ile274Met						p.I274M	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	822	+	Melanoma(164;0.0903)		274			Helical; Name=7; (Potential).		A4D2G0|Q6IFP8	Missense_Mutation	SNP	ENST00000408955.2	37	c.822C>G	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	C	0.676	-0.799938	0.02841	.	.	ENSG00000221910	ENST00000408955	T	0.40756	1.02	3.57	-3.78	0.04333	GPCR, rhodopsin-like superfamily (1);	0.140258	0.32952	N	0.005444	T	0.29458	0.0734	L	0.38175	1.15	0.09310	N	1	B	0.12013	0.005	B	0.26693	0.072	T	0.15464	-1.0436	10	0.42905	T	0.14	-17.209	11.2291	0.48901	0.0:0.2515:0.0:0.7485	.	274	O95006	OR2F2_HUMAN	M	274	ENSP00000386222:I274M	ENSP00000386222:I274M	I	+	3	3	OR2F2	143264080	0.000000	0.05858	0.038000	0.18304	0.046000	0.14306	-3.409000	0.00481	-1.123000	0.02940	-0.339000	0.08088	ATC		0.483	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1				23	78	0	0	0	0.083992	0	23	78		
SOX7	83595	broad.mit.edu	37	8	10584142	10584142	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:10584142C>G	ENST00000304501.1	-	2	351	c.273G>C	c.(271-273)aaG>aaC	p.K91N	SOX7_ENST00000553390.1_Missense_Mutation_p.K143N|SOX7_ENST00000554914.1_Missense_Mutation_p.K143N|CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	91					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.K91N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		CGTACGGCCTCTTCTGGGACA	0.647																																						uc003wtf.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(271-273)AAG>AAC		SRY-box 7							42.0	44.0	44.0					8																	10584142		2203	4300	6503	SO:0001583	missense	83595				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	g.chr8:10584142C>G	AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.273G>C	8.37:g.10584142C>G	ENSP00000301921:p.Lys91Asn					SOX7_uc011kwz.1_Missense_Mutation_p.K143N|uc003wtg.1_5'Flank	p.K91N	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN		COAD - Colon adenocarcinoma(149;0.0732)	2	352	-			91			HMG box.		B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	c.273G>C	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755799	0.89843	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.99515	-6.06;-6.06;-6.06	4.85	4.85	0.62838	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.99809	0.9917	H	0.99609	4.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96529	0.9391	10	0.72032	D	0.01	.	17.137	0.86743	0.0:1.0:0.0:0.0	.	143;91	B4DKV0;Q9BT81	.;SOX7_HUMAN	N	91;143;143	ENSP00000301921:K91N;ENSP00000452017:K143N;ENSP00000451145:K143N	ENSP00000346908:K143N	K	-	3	2	SOX7;CTD-2135J3.4	10621552	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.776000	0.62354	2.518000	0.84900	0.561000	0.74099	AAG		0.647	SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1				6	16	0	0	0	0.047766	0	6	16		
MTUS1	57509	broad.mit.edu	37	8	17612647	17612647	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:17612647C>G	ENST00000262102.6	-	2	894	c.670G>C	c.(670-672)Gat>Cat	p.D224H	MTUS1_ENST00000381862.3_Missense_Mutation_p.D224H|MTUS1_ENST00000381869.3_Missense_Mutation_p.D224H|MTUS1_ENST00000519263.1_Missense_Mutation_p.D224H	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	224					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.D224H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTTCTCTATCATAAGTAGTT	0.418																																						uc003wxv.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|skin(1)	2						c.(670-672)GAT>CAT		mitochondrial tumor suppressor 1 isoform 1							184.0	159.0	167.0					8																	17612647		1898	4117	6015	SO:0001583	missense	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17612647C>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.670G>C	8.37:g.17612647C>G	ENSP00000262102:p.Asp224His					MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.D224H|MTUS1_uc010lsz.2_Missense_Mutation_p.D224H	p.D224H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	2	1144	-			224					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Missense_Mutation	SNP	ENST00000262102.6	37	c.670G>C	CCDS43717.1	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318424	0.40996	.	.	ENSG00000129422	ENST00000381869;ENST00000262102;ENST00000519263;ENST00000381862	T;T;T;T	0.22336	2.93;2.98;2.93;1.96	4.25	2.31	0.28768	.	1.114640	0.06825	N	0.792842	T	0.20861	0.0502	L	0.27053	0.805	0.09310	N	1	P;P;P	0.43094	0.799;0.681;0.681	P;B;B	0.48141	0.568;0.299;0.299	T	0.25082	-1.0142	9	.	.	.	-0.2914	6.3919	0.21591	0.0:0.7287:0.0:0.2713	.	224;224;224	Q9ULD2-5;Q9ULD2-2;Q9ULD2	.;.;MTUS1_HUMAN	H	224	ENSP00000371293:D224H;ENSP00000262102:D224H;ENSP00000430167:D224H;ENSP00000371286:D224H	.	D	-	1	0	MTUS1	17656927	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.048000	0.14078	0.634000	0.30469	0.563000	0.77884	GAT		0.418	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1		XM_372031		25	150	0	0	0	0.083992	0	25	150		
UNC5D	137970	broad.mit.edu	37	8	35406937	35406937	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:35406937G>A	ENST00000404895.2	+	2	559	c.231G>A	c.(229-231)gcG>gcA	p.A77A	UNC5D_ENST00000420357.1_Silent_p.A77A|UNC5D_ENST00000416672.1_Silent_p.A77A|UNC5D_ENST00000287272.2_Silent_p.A77A|UNC5D_ENST00000453357.2_Silent_p.A72A	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	77	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.A72A(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGTGCAAAGCGAGGCCAGCCA	0.512																																						uc003xjr.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(229-231)GCG>GCA		unc-5 homolog D precursor							63.0	57.0	59.0					8																	35406937		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406937G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.231G>A	8.37:g.35406937G>A						UNC5D_uc003xjs.1_Silent_p.A72A	p.A77A	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	559	+			77			Extracellular (Potential).|Ig-like.		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.231G>A	CCDS6093.2																																																																																				0.512	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2				12	39	0	0	0	0.080935	0	12	39		
SDCBP	6386	broad.mit.edu	37	8	59494245	59494245	+	Splice_Site	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:59494245G>C	ENST00000260130.4	+	9	993	c.843G>C	c.(841-843)cgG>cgC	p.R281R	SDCBP_ENST00000447182.2_Splice_Site_p.R280R|SDCBP_ENST00000424270.2_Splice_Site_p.R275R|SDCBP_ENST00000447267.2_Splice_Site_p.R227R|SDCBP_ENST00000422546.2_Splice_Site_p.R280R|SDCBP_ENST00000520168.1_Splice_Site_p.R222R|SDCBP_ENST00000523483.1_Splice_Site_p.R301R|SDCBP_ENST00000413219.2_Splice_Site_p.R281R	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	281					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)	p.R281R(1)		breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCTCTTGTAGGATGGCACCAA	0.383																																						uc003xtn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(841-843)CGG>CGC		syntenin isoform 1							126.0	113.0	117.0					8																	59494245		2203	4300	6503	SO:0001630	splice_region_variant	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59494245G>C	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.843-1G>C	8.37:g.59494245G>C						SDCBP_uc003xto.2_Silent_p.R280R|SDCBP_uc003xtr.2_Silent_p.R280R|SDCBP_uc003xtp.2_Silent_p.R275R|SDCBP_uc003xtq.2_Silent_p.R281R|SDCBP_uc003xts.2_Silent_p.R287R|SDCBP_uc011led.1_Silent_p.R222R	p.R281R	NM_005625	NP_005616	O00560	SDCB1_HUMAN			9	993	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	281					B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Silent	SNP	ENST00000260130.4	37	c.843G>C	CCDS6172.1																																																																																				0.383	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1		NM_005625	Silent	24	71	0	0	0	0.076483	0	24	71		
ZFHX4	79776	broad.mit.edu	37	8	77764240	77764240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:77764240C>T	ENST00000521891.2	+	10	5531	c.5083C>T	c.(5083-5085)Cag>Tag	p.Q1695*	ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.Q1650*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.Q1650*|ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.Q1669*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1650	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Q1695*(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCACAAATTCAGATGCAACT	0.428										HNSCC(33;0.089)																												uc003yav.2		NaN																	1	Substitution - Nonsense(1)		urinary_tract(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4948-4950)CAG>TAG		zinc finger homeodomain 4							109.0	108.0	108.0					8																	77764240		2055	4232	6287	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77764240C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.5083C>T	8.37:g.77764240C>T	ENSP00000430497:p.Gln1695*	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Nonsense_Mutation_p.Q1695*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q1650*	p.Q1650*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	5335	+			1650			Gln-rich.		G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.4948C>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	46	12.736550	0.99692	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	4.48	4.48	0.54585	.	0.000000	0.42172	U	0.000758	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	17.7137	0.88330	0.0:1.0:0.0:0.0	.	.	.	.	X	1695;1695;1650;1650;1669	.	ENSP00000050961:Q1650X	Q	+	1	0	ZFHX4	77926795	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.541000	0.82084	2.486000	0.83907	0.637000	0.83480	CAG		0.428	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		23	61	0	0	0	0.069288	0	23	61		
COX6C	1345	broad.mit.edu	37	8	100904266	100904266	+	De_novo_Start_OutOfFrame	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:100904266G>C	ENST00000520468.2	-	0	438				COX6C_ENST00000522940.1_De_novo_Start_OutOfFrame|COX6C_ENST00000297564.2_De_novo_Start_OutOfFrame|COX6C_ENST00000524245.1_De_novo_Start_OutOfFrame|COX6C_ENST00000518171.1_De_novo_Start_OutOfFrame|COX6C_ENST00000517682.2_De_novo_Start_OutOfFrame|COX6C_ENST00000523016.1_De_novo_Start_OutOfFrame|COX6C_ENST00000520271.1_De_novo_Start_OutOfFrame	NM_004374.3	NP_004365.1	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc						cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)		HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TACTGTCCTTGATACGTAtgc	0.448			T	HMGA2	uterine leiomyoma																																NSCLC(46;1123 1136 1705 23767 45086)	uc003yiy.1		NaN		Dom	yes		8	8q22-q23	1345	T	cytochrome c oxidase subunit VIc			M	HMGA2		uterine leiomyoma	HMGA2/COX6C(2)	0				soft_tissue(2)	2						c.(-18--14)ATCAA>ATGAA		cytochrome c oxidase subunit VIc proprotein							70.0	68.0	69.0					8																	100904266		2203	4300	6503			1345				respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity	g.chr8:100904266G>C	X13238	CCDS6284.1	8q22.2	2011-07-04			ENSG00000164919	ENSG00000164919	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2285	protein-coding gene	gene with protein product		124090				10072584	Standard	NM_004374		Approved		uc003yiy.2	P09669	OTTHUMG00000164703	ENST00000520468.2:c.-17C>G	8.37:g.100904266G>C								NM_004374	NP_004365	P09669	COX6C_HUMAN	all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		2	44	-								B2R4D7	Translation_Start_Site	SNP	ENST00000520468.2	37	c.-16C>G	CCDS6284.1																																																																																				0.448	COX6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379834.3		NM_004374		28	73	0	0	0	0.134883	0	28	73		
DPYS	1807	broad.mit.edu	37	8	105459566	105459566	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:105459566C>T	ENST00000351513.2	-	3	721	c.589G>A	c.(589-591)Gac>Aac	p.D197N		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	197					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)	p.D197N(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GCAATTAAGTCTCCATTTTCC	0.453																																						uc003yly.3		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(589-591)GAC>AAC		dihydropyrimidinase							111.0	102.0	105.0					8																	105459566		2203	4300	6503	SO:0001583	missense	1807				protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding	g.chr8:105459566C>T	D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.589G>A	8.37:g.105459566C>T	ENSP00000276651:p.Asp197Asn						p.D197N	NM_001385	NP_001376	Q14117	DPYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	718	-			197						Missense_Mutation	SNP	ENST00000351513.2	37	c.589G>A	CCDS6302.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590394	0.86851	.	.	ENSG00000147647	ENST00000351513;ENST00000521573	D;D	0.91068	-2.6;-2.78	6.02	6.02	0.97574	Amidohydrolase 1 (1);	0.046356	0.85682	D	0.000000	D	0.94202	0.8139	M	0.90922	3.16	0.80722	D	1	B	0.25743	0.133	B	0.34346	0.18	D	0.92023	0.5627	10	0.66056	D	0.02	-38.6014	20.547	0.99278	0.0:1.0:0.0:0.0	.	197	Q14117	DPYS_HUMAN	N	197;144	ENSP00000276651:D197N;ENSP00000430246:D144N	ENSP00000276651:D197N	D	-	1	0	DPYS	105528742	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.850000	0.98022	0.650000	0.86243	GAC		0.453	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380814.1		NM_001385		12	34	0	0	0	0.09319	0	12	34		
OXR1	55074	broad.mit.edu	37	8	107763046	107763046	+	Silent	SNP	G	G	A	rs186196779	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:107763046G>A	ENST00000442977.2	+	16	2601	c.2502G>A	c.(2500-2502)gcG>gcA	p.A834A	OXR1_ENST00000312046.6_Silent_p.A799A|OXR1_ENST00000297447.6_Silent_p.A203A|OXR1_ENST00000517566.2_Silent_p.A833A|OXR1_ENST00000452423.2_Silent_p.A254A|OXR1_ENST00000531443.1_Silent_p.A806A|OXR1_ENST00000445937.1_Silent_p.A806A|OXR1_ENST00000449762.2_Silent_p.A176A|OXR1_ENST00000521592.1_Silent_p.A79A	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	834	TLD.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)	p.A834A(1)|p.A718A(1)|p.A203A(1)		NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GAGAATTTGCGCTTTGGCTTG	0.323													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17066	0.0		0.0	False		,,,				2504	0.0					uc011lht.1		NaN																	3	Substitution - coding silent(3)		urinary_tract(3)		0						c.(2500-2502)GCG>GCA		oxidation resistance 1 isoform 1							77.0	78.0	78.0					8																	107763046		2203	4300	6503	SO:0001819	synonymous_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107763046G>A	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.2502G>A	8.37:g.107763046G>A						OXR1_uc003ymf.2_Silent_p.A806A|OXR1_uc011lhu.1_Silent_p.A799A|OXR1_uc010mcg.2_RNA|OXR1_uc010mch.2_Silent_p.A462A|OXR1_uc003ymk.2_Silent_p.A203A|OXR1_uc003yml.2_Silent_p.A176A	p.A834A	NM_018002	NP_060472	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		16	2601	+			834			TLD.		A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Silent	SNP	ENST00000442977.2	37	c.2502G>A	CCDS56548.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	11.03	1.517642	0.27123	.	.	ENSG00000164830	ENST00000519415	.	.	.	5.59	-1.89	0.07689	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21999	-1.0229	4	.	.	.	-15.6458	2.2088	0.03943	0.1458:0.1925:0.1679:0.4938	.	.	.	.	H	478	.	.	R	+	2	0	OXR1	107832222	0.601000	0.26907	0.945000	0.38365	0.961000	0.63080	-0.184000	0.09698	-0.729000	0.04875	-1.737000	0.00689	CGC		0.323	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_181354		25	115	0	0	0	0.0918	0	25	115		
CSMD3	114788	broad.mit.edu	37	8	113348981	113348981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:113348981G>A	ENST00000297405.5	-	44	7163	c.6919C>T	c.(6919-6921)Caa>Taa	p.Q2307*	CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q2237*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q2203*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q2267*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2307	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q2267*(1)|p.Q2307*(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAACAATCTTGAAAGTTTGGA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	2	Substitution - Nonsense(2)		urinary_tract(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(6919-6921)CAA>TAA		CUB and Sushi multiple domains 3 isoform 1							100.0	95.0	96.0					8																	113348981		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113348981G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6919C>T	8.37:g.113348981G>A	ENSP00000297405:p.Gln2307*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Nonsense_Mutation_p.Q1509*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Q2267*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Q2203*|CSMD3_uc003ynw.1_Nonsense_Mutation_p.Q18*	p.Q2307*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			44	7078	-			2307			Extracellular (Potential).|CUB 13.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.6919C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	50	16.116380	0.99854	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	.	.	.	X	2267;2307;1577;2203;2237	.	ENSP00000297405:Q2307X	Q	-	1	0	CSMD3	113418157	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.318000	0.72866	2.937000	0.99478	0.650000	0.86243	CAA		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		34	135	0	0	0	0.064281	0	34	135		
MTBP	27085	broad.mit.edu	37	8	121530149	121530149	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr8:121530149C>T	ENST00000305949.1	+	19	2350	c.2305C>T	c.(2305-2307)Cac>Tac	p.H769Y		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	769	Interaction with MDM2. {ECO:0000250}.				cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)		p.H769Y(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAATAGTAATCACTATCATCA	0.393																																						uc003ypc.1		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	skin(2)|ovary(1)	3						c.(2305-2307)CAC>TAC		Mdm2, transformed 3T3 cell double minute 2, p53							102.0	81.0	88.0					8																	121530149		2203	4299	6502	SO:0001583	missense	27085				cell cycle arrest			g.chr8:121530149C>T		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2305C>T	8.37:g.121530149C>T	ENSP00000303398:p.His769Tyr						p.H769Y	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		19	2350	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		769			Interaction with MDM2 (By similarity).		B4DUR5|Q9HA89	Missense_Mutation	SNP	ENST00000305949.1	37	c.2305C>T	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	C	3.350	-0.132831	0.06711	.	.	ENSG00000172167	ENST00000305949	.	.	.	4.04	3.16	0.36331	.	1.184740	0.05906	N	0.630886	T	0.27663	0.0680	L	0.50333	1.59	0.09310	N	1	P	0.35575	0.51	B	0.31245	0.126	T	0.18524	-1.0334	9	0.05525	T	0.97	-0.1884	7.5914	0.28023	0.2016:0.7061:0.0:0.0923	.	769	Q96DY7	MTBP_HUMAN	Y	769	.	ENSP00000303398:H769Y	H	+	1	0	MTBP	121599330	0.009000	0.17119	0.003000	0.11579	0.001000	0.01503	2.497000	0.45354	1.304000	0.44892	-0.251000	0.11542	CAC		0.393	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1		NM_022045		25	79	0	0	0	0.0918	0	25	79		
FREM1	158326	broad.mit.edu	37	9	14776080	14776080	+	Missense_Mutation	SNP	C	C	T	rs61735747	byFrequency	TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:14776080C>T	ENST00000380880.3	-	25	5347	c.4564G>A	c.(4564-4566)Gtg>Atg	p.V1522M	FREM1_ENST00000422223.2_Missense_Mutation_p.V1522M|FREM1_ENST00000380894.1_Missense_Mutation_p.V58M|FREM1_ENST00000380881.4_Missense_Mutation_p.V1523M|FREM1_ENST00000486223.1_5'Flank			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1522					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)	p.V1523M(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AGCAGGCCCACGGCCCCTTGG	0.617													C|||	12	0.00239617	0.0091	0.0	5008	,	,		18824	0.0		0.0	False		,,,				2504	0.0					uc003zlm.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(4564-4566)GTG>ATG		FRAS1 related extracellular matrix 1 precursor		C	MET/VAL,MET/VAL	25,3989		0,25,1982	109.0	120.0	117.0		172,4564	1.2	0.0	9	dbSNP_129	117	0,8328		0,0,4164	yes	missense,missense	FREM1	NM_001177704.1,NM_144966.5	21,21	0,25,6146	TT,TC,CC		0.0,0.6228,0.2026	benign,benign	58/716,1522/2180	14776080	25,12317	2007	4164	6171	SO:0001583	missense	158326				cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	g.chr9:14776080C>T	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.4564G>A	9.37:g.14776080C>T	ENSP00000370262:p.Val1522Met					FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Missense_Mutation_p.V58M	p.V1522M	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN		GBM - Glioblastoma multiforme(50;3.53e-06)	25	5154	-			1522			CSPG 11.		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	ENST00000380880.3	37	c.4564G>A	CCDS47952.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	C	5.022	0.189662	0.09547	0.006228	0.0	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880	T;T;T;T	0.79554	0.95;0.95;-1.28;0.95	6.16	1.19	0.21007	.	0.534242	0.22251	N	0.062551	T	0.41834	0.1176	N	0.01188	-0.97	0.09310	N	1	B;B	0.17268	0.002;0.021	B;B	0.06405	0.002;0.002	T	0.42103	-0.9471	10	0.38643	T	0.18	0.1534	6.5721	0.22545	0.0:0.1308:0.2581:0.611	.	1522;58	Q5H8C1;B7ZBX4	FREM1_HUMAN;.	M	1523;1522;58;1522	ENSP00000370263:V1523M;ENSP00000412940:V1522M;ENSP00000370278:V58M;ENSP00000370262:V1522M	ENSP00000370262:V1522M	V	-	1	0	FREM1	14766080	0.000000	0.05858	0.011000	0.14972	0.151000	0.21798	0.368000	0.20399	-0.035000	0.13691	-0.312000	0.09012	GTG		0.617	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339474.2		NM_144966		27	67	0	0	0	0.108266	0	27	67		
HAUS6	54801	broad.mit.edu	37	9	19082988	19082988	+	Missense_Mutation	SNP	C	C	G	rs146901356		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:19082988C>G	ENST00000380502.3	-	8	1220	c.753G>C	c.(751-753)gaG>gaC	p.E251D	HAUS6_ENST00000380496.1_Missense_Mutation_p.E115D	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	251					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.E251D(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAACTTCTCTCTCTTTTTCCA	0.353																																						uc003znk.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(751-753)GAG>GAC		HAUS augmin-like complex, subunit 6							43.0	42.0	42.0					9																	19082988		2203	4293	6496	SO:0001583	missense	54801				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		g.chr9:19082988C>G	AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.753G>C	9.37:g.19082988C>G	ENSP00000369871:p.Glu251Asp					HAUS6_uc011lmz.1_Missense_Mutation_p.E6D|HAUS6_uc003znl.1_Missense_Mutation_p.E115D|HAUS6_uc003znm.1_Missense_Mutation_p.E6D	p.E251D	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN			8	1006	-			251					B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	ENST00000380502.3	37	c.753G>C	CCDS6489.1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341377	0.60963	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	T;T	0.23754	1.89;1.89	5.61	-1.37	0.09056	.	0.097154	0.64402	N	0.000001	T	0.43077	0.1231	M	0.80183	2.485	0.37080	D	0.898962	P;D;B;D	0.89917	0.549;1.0;0.269;1.0	B;D;B;D	0.91635	0.188;0.999;0.136;0.999	T	0.43893	-0.9363	10	0.62326	D	0.03	-6.8211	4.7025	0.12834	0.0:0.2449:0.3087:0.4463	.	251;251;115;251	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	D	251;115	ENSP00000369871:E251D;ENSP00000369865:E115D	ENSP00000369865:E115D	E	-	3	2	HAUS6	19072988	0.982000	0.34865	0.995000	0.50966	0.737000	0.42083	-0.076000	0.11412	-0.127000	0.11661	-0.990000	0.02549	GAG		0.353	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051825.1		NM_017645		19	36	0	0	0	0.049695	0	19	36		
KIF27	55582	broad.mit.edu	37	9	86457231	86457231	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:86457231C>G	ENST00000297814.2	-	17	3785	c.3642G>C	c.(3640-3642)aaG>aaC	p.K1214N	KIF27_ENST00000334204.2_Missense_Mutation_p.K1117N|RP11-575L7.4_ENST00000591217.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K1148N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1214					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K1214N(1)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GGCTGGTTTTCTTATAGAAAT	0.368																																						uc004ana.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	lung(4)|skin(1)	5						c.(3640-3642)AAG>AAC		kinesin family member 27							32.0	30.0	30.0					9																	86457231		2202	4297	6499	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86457231C>G	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.3642G>C	9.37:g.86457231C>G	ENSP00000297814:p.Lys1214Asn					KIF27_uc010mpw.2_Missense_Mutation_p.K1148N|KIF27_uc010mpx.2_Missense_Mutation_p.K1117N	p.K1214N	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN			17	3786	-			1214			Potential.		B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.3642G>C	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.868567	0.72065	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.79141	-1.13;-1.24;-1.17	4.24	4.24	0.50183	.	0.000000	0.56097	D	0.000022	D	0.86661	0.5986	M	0.68593	2.085	0.43803	D	0.996355	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.994	D	0.87957	0.2727	10	0.56958	D	0.05	.	16.9081	0.86133	0.0:1.0:0.0:0.0	.	1117;1148;1214	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	N	1214;1148;1117	ENSP00000297814:K1214N;ENSP00000401688:K1148N;ENSP00000333928:K1117N	ENSP00000297814:K1214N	K	-	3	2	KIF27	85647051	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.382000	0.66213	2.201000	0.70794	0.465000	0.42564	AAG		0.368	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1		NM_017576		23	45	0	0	0	0.0918	0	23	45		
RNF20	56254	broad.mit.edu	37	9	104309797	104309797	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:104309797G>A	ENST00000389120.3	+	9	1179	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	363					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L363L(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ATGAAAAGCTGAAGGTAGGAA	0.453																																						uc004bbn.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)	ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1)	8						c.(1087-1089)CTG>CTA		ring finger protein 20							56.0	57.0	57.0					9																	104309797		2203	4300	6503	SO:0001819	synonymous_variant	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104309797G>A	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1089G>A	9.37:g.104309797G>A							p.L363L	NM_019592	NP_062538	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	9	1179	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	363			Potential.		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Silent	SNP	ENST00000389120.3	37	c.1089G>A	CCDS35084.1																																																																																				0.453	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1		NM_019592		11	29	0	0	0	0.069234	0	11	29		
ABCA1	19	broad.mit.edu	37	9	107547853	107547853	+	Missense_Mutation	SNP	C	C	G	rs529867682		TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:107547853C>G	ENST00000374736.3	-	49	6863	c.6469G>C	c.(6469-6471)Gat>Cat	p.D2157H		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2157					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.D2157H(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCAAAGAAATCCTGGACAGGC	0.438																																						uc004bcl.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(6469-6471)GAT>CAT		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						98.0	100.0	99.0					9																	107547853		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107547853C>G	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.6469G>C	9.37:g.107547853C>G	ENSP00000363868:p.Asp2157His					NIPSNAP3B_uc004bcj.1_Intron	p.D2157H	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	49	6782	-			2157					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.6469G>C	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515301	0.64634	.	.	ENSG00000165029	ENST00000374736	D	0.83250	-1.7	6.0	6.0	0.97389	.	0.222293	0.47455	D	0.000227	T	0.76285	0.3966	N	0.20766	0.605	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.69075	-0.5241	10	0.59425	D	0.04	.	20.5469	0.99278	0.0:1.0:0.0:0.0	.	2157	O95477	ABCA1_HUMAN	H	2157	ENSP00000363868:D2157H	ENSP00000363868:D2157H	D	-	1	0	ABCA1	106587674	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.234000	0.51320	2.850000	0.98022	0.650000	0.86243	GAT		0.438	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502		33	79	0	0	0	0.059317	0	33	79		
TRIM32	22954	broad.mit.edu	37	9	119460323	119460323	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:119460323G>A	ENST00000450136.1	+	2	463	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R101Q|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	101					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R101Q(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCATGTGTCGGTCCTGTGGG	0.597																																					Esophageal Squamous(92;212 1916 19711 26951)	uc004bjx.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	central_nervous_system(2)|kidney(1)	3						c.(301-303)CGG>CAG		tripartite motif-containing 32							66.0	66.0	66.0					9																	119460323		2203	4300	6503	SO:0001583	missense	22954	Bardet-Biedl_syndrome			fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119460323G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.302G>A	9.37:g.119460323G>A	ENSP00000408292:p.Arg101Gln					ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R101Q	p.R101Q	NM_001099679	NP_001093149	Q13049	TRI32_HUMAN			2	460	+			101					Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.302G>A	CCDS6817.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.431893	0.25813	.	.	ENSG00000119401	ENST00000450136;ENST00000373983;ENST00000411410	T;T;T	0.56444	0.46;0.46;1.03	5.36	5.36	0.76844	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (2);	0.177050	0.32488	N	0.006035	T	0.28034	0.0691	N	0.14661	0.345	0.31695	N	0.641395	B	0.32071	0.355	B	0.20384	0.029	T	0.27806	-1.0063	9	.	.	.	-15.2231	6.9847	0.24721	0.2117:0.0:0.7883:0.0	.	101	Q13049	TRI32_HUMAN	Q	101	ENSP00000408292:R101Q;ENSP00000363095:R101Q;ENSP00000412603:R101Q	.	R	+	2	0	TRIM32	118500144	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	4.065000	0.57513	2.486000	0.83907	0.655000	0.94253	CGG		0.597	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2		NM_012210		25	78	0	0	0	0.134883	0	25	78		
FIBCD1	84929	broad.mit.edu	37	9	133780649	133780649	+	Silent	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chr9:133780649G>C	ENST00000372338.4	-	6	1340	c.1098C>G	c.(1096-1098)ctC>ctG	p.L366L	FIBCD1_ENST00000448616.1_Silent_p.L366L|FIBCD1_ENST00000372337.2_Silent_p.L208L|FIBCD1_ENST00000253018.4_Intron	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	366	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitin binding (GO:0008061)|metal ion binding (GO:0046872)	p.L366L(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGCCACGGTGAGCGGGTACC	0.657																																						uc004bzz.2		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(1096-1098)CTC>CTG		fibrinogen C domain containing 1							50.0	44.0	46.0					9																	133780649		2203	4300	6503	SO:0001819	synonymous_variant	84929				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding	g.chr9:133780649G>C	AK027716	CCDS6937.1	9q34.2	2013-02-06			ENSG00000130720	ENSG00000130720		"""Fibrinogen C domain containing"""	25922	protein-coding gene	gene with protein product		613357				12975309	Standard	NM_001145106		Approved	FLJ14810	uc004bzz.3	Q8N539	OTTHUMG00000020814	ENST00000372338.4:c.1098C>G	9.37:g.133780649G>C						FIBCD1_uc011mcc.1_Silent_p.L366L	p.L366L	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)	6	1343	-	all_hematologic(7;0.0028)		366			Fibrinogen C-terminal.|Extracellular (Potential).		A3KFK0|Q6UXK6|Q96SJ7	Silent	SNP	ENST00000372338.4	37	c.1098C>G	CCDS6937.1																																																																																				0.657	FIBCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054687.2		NM_032843		7	24	0	0	0	0.038147	0	7	24		
KDM6A	7403	broad.mit.edu	37	X	44969327	44969327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:44969327G>T	ENST00000377967.4	+	28	4050	c.4009G>T	c.(4009-4011)Gag>Tag	p.E1337*	KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.E1344*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.E1258*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.E1292*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1337					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.E1337*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AAAACAGGTGGAGGTTTTTGA	0.348			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		7	Whole gene deletion(6)|Substitution - Nonsense(1)		oesophagus(2)|breast(2)|pancreas(2)|urinary_tract(1)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(4009-4011)GAG>TAG		ubiquitously transcribed tetratricopeptide							80.0	73.0	75.0					X																	44969327		2203	4299	6502	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969327G>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4009G>T	X.37:g.44969327G>T	ENSP00000367203:p.Glu1337*					KDM6A_uc011mkz.1_Nonsense_Mutation_p.E1389*|KDM6A_uc011mla.1_Nonsense_Mutation_p.E1292*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.E1344*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.E1041*|KDM6A_uc011mld.1_Nonsense_Mutation_p.E976*	p.E1337*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			28	4384	+			1337					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.4009G>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	40|40	8.406753|8.406753	0.98799|0.98799	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797;ENST00000431196	.|.	.|.	.|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76054	.|0.3934	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74839	.|-0.3528	.|3	0.87932|.	D|.	0|.	-13.155|-13.155	18.8218|18.8218	0.92100|0.92100	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	1034;1337;1292;1344;1258|934;979;96	.|.	ENSP00000334340:E1034X|.	E|G	+|+	1|2	0|0	KDM6A|KDM6A	44854271|44854271	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.471000|9.471000	0.97696|0.97696	2.391000|2.391000	0.81399|0.81399	0.600000|0.600000	0.82982|0.82982	GAG|GGA		0.348	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		8	71	1	0	0.00307968	0.038147	0.00337703	8	71		
APEX2	27301	broad.mit.edu	37	X	55033263	55033263	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:55033263G>A	ENST00000374987.3	+	6	1018	c.952G>A	c.(952-954)Gca>Aca	p.A318T	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	318					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)	p.A318T(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CTCTGTGCCTGCAAAACAGTG	0.567								Other BER factors																														uc004dtz.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	breast(1)	1						c.(952-954)GCA>ACA	Other_BER_factors	apurinic/apyrimidinic endonuclease 2							54.0	46.0	49.0					X																	55033263		2203	4300	6503	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55033263G>A	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.952G>A	X.37:g.55033263G>A	ENSP00000364126:p.Ala318Thr					APEX2_uc011mom.1_Missense_Mutation_p.A147T	p.A318T	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			6	1028	+			318					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.952G>A	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094570	0.36952	.	.	ENSG00000169188	ENST00000374987	T	0.60424	0.19	4.43	3.45	0.39498	.	0.488658	0.22985	N	0.053275	T	0.55800	0.1943	M	0.69823	2.125	0.36451	D	0.866078	B	0.21225	0.053	B	0.25405	0.06	T	0.60073	-0.7334	10	0.48119	T	0.1	-9.0302	10.242	0.43319	0.118:0.0:0.882:0.0	.	318	Q9UBZ4	APEX2_HUMAN	T	318	ENSP00000364126:A318T	ENSP00000364126:A318T	A	+	1	0	APEX2	55049988	0.994000	0.37717	0.667000	0.29798	0.742000	0.42306	2.525000	0.45598	0.869000	0.35703	0.600000	0.82982	GCA		0.567	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1				13	24	0	0	0	0.105934	0	13	24		
KIAA2022	340533	broad.mit.edu	37	X	73964271	73964271	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:73964271G>C	ENST00000055682.6	-	3	732	c.121C>G	c.(121-123)Cta>Gta	p.L41V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	41					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.L41V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCAGCTTCTAGAGCTGCAAAT	0.463																																						uc004eby.2		NaN																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(121-123)CTA>GTA		hypothetical protein LOC340533							38.0	38.0	38.0					X																	73964271		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73964271G>C		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.121C>G	X.37:g.73964271G>C	ENSP00000055682:p.Leu41Val						p.L41V	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	738	-			41					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.121C>G	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.787591	0.31593	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.32515	1.45;1.45	4.25	3.38	0.38709	.	0.484192	0.20052	N	0.100273	T	0.21427	0.0516	N	0.22421	0.69	0.26007	N	0.982044	B	0.06786	0.001	B	0.09377	0.004	T	0.16689	-1.0394	10	0.48119	T	0.1	-1.8521	12.3849	0.55327	0.0:0.5498:0.4502:0.0	.	41	Q5QGS0	K2022_HUMAN	V	41	ENSP00000362567:L41V;ENSP00000055682:L41V	ENSP00000055682:L41V	L	-	1	2	KIAA2022	73880996	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.318000	0.43779	1.123000	0.41961	0.600000	0.82982	CTA		0.463	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2		NM_001008537		12	10	0	0	0	0.105934	0	12	10		
CDR1	1038	broad.mit.edu	37	X	139865962	139865962	+	Silent	SNP	G	G	A			TCGA-DK-A1AB-01A-11D-A13W-08	TCGA-DK-A1AB-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f0fb2ba-0351-4ce0-8b74-31aa3deecae1	6bb1a3eb-1659-4df1-935d-f8b2d710ace4	g.chrX:139865962G>A	ENST00000370532.2	-	1	761	c.570C>T	c.(568-570)ttC>ttT	p.F190F		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	190	5 X 6 AA approximate repeats.							p.F190F(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				ACGTCTTCCAGAAAATCCATG	0.448																																						uc004fbg.1		NaN																	1	Substitution - coding silent(1)		urinary_tract(1)		0						c.(568-570)TTC>TTT		cerebellar degeneration-related protein 1,							134.0	132.0	133.0					X																	139865962		2203	4300	6503	SO:0001819	synonymous_variant	1038							g.chrX:139865962G>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.570C>T	X.37:g.139865962G>A						uc004fbf.1_RNA	p.F190F	NM_004065	NP_004056	P51861	CDR1_HUMAN			1	762	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	190			5 X 6 AA approximate repeats.|3.		Q5JXH6	Silent	SNP	ENST00000370532.2	37	c.570C>T	CCDS14670.1																																																																																				0.448	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1		NM_004065		69	139	0	0	0	0.139131	0	69	139		
