#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
INPP5B	3633	broad.mit.edu	37	1	38345863	38345863	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:38345863T>C	ENST00000373026.1	-	14	1675	c.1675A>G	c.(1675-1677)Aaa>Gaa	p.K559E	INPP5B_ENST00000458109.2_3'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.K315E|INPP5B_ENST00000373024.3_Missense_Mutation_p.K479E|INPP5B_ENST00000373023.2_Missense_Mutation_p.K559E			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	559	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTGAATTTTCAGCTATACA	0.398																																						uc001ccf.1																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(943-945)Aaa>Gaa		Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.							86.0	82.0	83.0					1																	38345863		1817	4082	5899	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38345863T>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1675A>G	1.37:g.38345863T>C	ENSP00000362117:p.Lys559Glu					INPP5B_uc009vvk.1_Missense_Mutation_p.K420E|INPP5B_uc001ccg.1_Missense_Mutation_p.K479E|INPP5B_uc010oij.1_Non-coding_Transcript	p.K315E	NM_005540	NP_005531	P32019	I5P2_HUMAN			8	980	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	559					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.943A>G		.	.	.	.	.	.	.	.	.	.	T	19.42	3.823999	0.71143	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024	D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47	5.83	5.83	0.93111	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.175433	0.64402	D	0.000010	D	0.93278	0.7858	M	0.72353	2.195	0.80722	D	1	P;B	0.42296	0.775;0.233	B;B	0.41646	0.362;0.096	D	0.92028	0.5631	10	0.10902	T	0.67	.	16.2009	0.82078	0.0:0.0:0.0:1.0	.	559;479	P32019;P32019-2	I5P2_HUMAN;.	E	315;559;559;559;479	ENSP00000362118:K315E;ENSP00000362114:K559E;ENSP00000362117:K559E;ENSP00000362115:K479E	ENSP00000362114:K559E	K	-	1	0	INPP5B	38118450	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.859000	0.86982	2.235000	0.73313	0.533000	0.62120	AAA		0.398	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540	
CGN	57530	broad.mit.edu	37	1	151491244	151491244	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:151491244G>T	ENST00000271636.7	+	2	382	c.249G>T	c.(247-249)aaG>aaT	p.K83N		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	77	Head.				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)			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)			TCCAAATCAAGGGGGCCAATG	0.592																																						uc009wmw.3																			0				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						c.(247-249)aaG>aaT		Homo sapiens cingulin (CGN), mRNA.							47.0	52.0	51.0					1																	151491244		2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491244G>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.249G>T	1.37:g.151491244G>T	ENSP00000271636:p.Lys83Asn						p.K83N	NM_020770	NP_065821	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		1	393	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		77			Head.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.249G>T	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387938	0.42308	.	.	ENSG00000143375	ENST00000505188;ENST00000502442;ENST00000427934;ENST00000271636	T;T	0.64618	0.83;-0.11	5.06	0.9	0.19278	.	0.049251	0.85682	D	0.000000	T	0.36799	0.0980	L	0.52364	1.645	0.27113	N	0.962334	P	0.48503	0.911	B	0.43251	0.413	T	0.28554	-1.0040	10	0.87932	D	0	-43.9452	8.1366	0.31058	0.5729:0.0:0.4271:0.0	.	77	Q9P2M7	CING_HUMAN	N	83	ENSP00000410836:K83N;ENSP00000271636:K83N	ENSP00000271636:K83N	K	+	3	2	CGN	149757868	1.000000	0.71417	0.745000	0.31077	0.818000	0.46254	0.438000	0.21559	0.074000	0.16767	0.655000	0.94253	AAG		0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	
HRNR	388697	broad.mit.edu	37	1	152187646	152187646	+	Silent	SNP	T	T	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:152187646T>C	ENST00000368801.2	-	3	6534	c.6459A>G	c.(6457-6459)tcA>tcG	p.S2153S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2153					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACGAACCTGAGCTAGATC	0.607																																						uc001ezt.1																			0		p.S2152S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(6457-6459)tcA>tcG		Homo sapiens hornerin (HRNR), mRNA.							334.0	378.0	363.0					1																	152187646		2199	4280	6479	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187646T>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6459A>G	1.37:g.152187646T>C							p.S2153S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	6535	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2153					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6459A>G	CCDS30859.1																																																																																				0.607	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
ABL2	27	broad.mit.edu	37	1	179077669	179077669	+	Silent	SNP	C	C	T	rs569106848		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:179077669C>T	ENST00000502732.1	-	12	2936	c.2733G>A	c.(2731-2733)ccG>ccA	p.P911P	ABL2_ENST00000504405.1_Silent_p.P772P|ABL2_ENST00000344730.3_Silent_p.P793P|ABL2_ENST00000512653.1_Silent_p.P896P|ABL2_ENST00000367623.4_Silent_p.P890P|ABL2_ENST00000408940.3_Silent_p.P875P|ABL2_ENST00000507173.1_Silent_p.P787P|ABL2_ENST00000511413.1_Silent_p.P808P	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	911	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AAGGCCAGCCCGGCTGCTCTC	0.607			T	ETV6	AML																																	uc001gmj.4				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(2731-2733)ccG>ccA		Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						60.0	59.0	60.0					1																	179077669		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077669C>T	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2733G>A	1.37:g.179077669C>T						ABL2_uc010pnf.2_Silent_p.P808P|ABL2_uc010png.2_Silent_p.P787P|ABL2_uc010pnh.2_Silent_p.P890P|ABL2_uc001gmg.4_Silent_p.P793P|ABL2_uc001gmi.4_Silent_p.P896P|ABL2_uc010pne.2_Silent_p.P772P	p.P911P	NM_007314	NP_009298	P42684	ABL2_HUMAN			11	3020	-			911			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.2733G>A	CCDS30947.1																																																																																				0.607	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
SWT1	54823	broad.mit.edu	37	1	185144110	185144110	+	Silent	SNP	A	A	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:185144110A>G	ENST00000367500.4	+	5	996	c.831A>G	c.(829-831)ttA>ttG	p.L277L	SWT1_ENST00000367501.3_Silent_p.L277L	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	277										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						AGGTTTCATTAAATGTGACTA	0.348																																						uc001grg.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						c.(829-831)ttA>ttG		Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.							59.0	63.0	61.0					1																	185144110		2203	4300	6503	SO:0001819	synonymous_variant	54823							g.chr1:185144110A>G	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.831A>G	1.37:g.185144110A>G						SWT1_uc001grh.4_Silent_p.L277L	p.L277L	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN			4	945	+			277					Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	ENST00000367500.4	37	c.831A>G	CCDS1367.1																																																																																				0.348	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1	NM_017673	
CFH	3075	broad.mit.edu	37	1	196709801	196709801	+	Missense_Mutation	SNP	G	G	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:196709801G>T	ENST00000367429.4	+	18	3075	c.2835G>T	c.(2833-2835)atG>atT	p.M945I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	945	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAGCTCACATGTCAGACAGTT	0.353																																						uc001gtj.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(2833-2835)atG>atT		Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							144.0	136.0	138.0					1																	196709801		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196709801G>T	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.2835G>T	1.37:g.196709801G>T	ENSP00000356399:p.Met945Ile					CFH_uc021pgt.1_Intron	p.M945I	NM_000186	NP_000177	P08603	CFAH_HUMAN			17	3075	+			945			Sushi 16.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000367429.4	37	c.2835G>T	CCDS1385.1	.	.	.	.	.	.	.	.	.	.	.	11.41	1.629321	0.28978	.	.	ENSG00000000971	ENST00000367429	T	0.63417	-0.04	6.16	-6.59	0.01830	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.30854	0.0778	N	0.11845	0.185	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14727	-1.0462	9	0.22109	T	0.4	.	1.1115	0.01705	0.3903:0.0982:0.2123:0.2992	.	945	P08603	CFAH_HUMAN	I	945	ENSP00000356399:M945I	ENSP00000356399:M945I	M	+	3	0	CFH	194976424	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.137000	0.03219	-1.033000	0.03299	-0.848000	0.03037	ATG		0.353	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2	NM_000186	
PTPRC	5788	broad.mit.edu	37	1	198703534	198703534	+	Silent	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:198703534C>A	ENST00000367376.2	+	22	2422	c.2251C>A	c.(2251-2253)Cga>Aga	p.R751R	PTPRC_ENST00000348564.6_Silent_p.R592R|PTPRC_ENST00000442510.2_Silent_p.R753R|PTPRC_ENST00000594404.1_Silent_p.R590R|PTPRC_ENST00000352140.3_Silent_p.R703R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	751	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CATGGTCACTCGATGTGAAGA	0.423																																						uc001gur.1																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2251-2253)Cga>Aga		Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.							256.0	263.0	261.0					1																	198703534		2203	4300	6503	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198703534C>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2251C>A	1.37:g.198703534C>A						PTPRC_uc001gut.1_Silent_p.R590R|PTPRC_uc021pgy.1_Silent_p.R705R|PTPRC_uc010ppg.1_Silent_p.R687R	p.R751R	NM_002838	NP_002829	P08575	PTPRC_HUMAN			21	2431	+			751			Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.2251C>A																																																																																					0.423	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
SOX13	9580	broad.mit.edu	37	1	204086257	204086259	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:204086257_204086259delAGC	ENST00000367204.1	+	6	708_710	c.599_601delAGC	c.(598-603)aagcag>aag	p.Q204del	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	204	Gln-rich.				anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGATTGCAAAGCAGCAGCAGCA	0.581																																						uc001ham.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13						c.(598-603)aagcag>aag		Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.																																				SO:0001651	inframe_deletion	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204086257_204086259delAGC		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.599_601delAGC	1.37:g.204086266_204086268delAGC	ENSP00000356172:p.Gln204del					SOX13_uc001hal.3_In_Frame_Del_p.Q204del|SOX13_uc010pqp.2_In_Frame_Del_p.Q204del|SOX13_uc010pqq.2_In_Frame_Del_p.Q71del	p.Q204del	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1194_1196	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		204			Gln-rich.		B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	In_Frame_Del	DEL	ENST00000367204.1	37	c.599_601delAGC	CCDS44299.1																																																																																				0.581	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686	
PIGR	5284	broad.mit.edu	37	1	207108974	207108974	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:207108974C>T	ENST00000356495.4	-	5	1418	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	412	Ig-like V-type 4.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGGGAGAGGCGGCCCTCGTA	0.637											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hez.3																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1234-1236)cGc>cAc		Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.							31.0	35.0	33.0					1																	207108974		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207108974C>T		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.1235G>A	1.37:g.207108974C>T	ENSP00000348888:p.Arg412His		OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2165	PIGR_uc009xbz.3_Missense_Mutation_p.R412H	p.R412H	NM_002644	NP_002635	P01833	PIGR_HUMAN			4	1419	-			412			Ig-like V-type 4.		Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.1235G>A	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.841510	0.91197	.	.	ENSG00000162896	ENST00000356495	T	0.10192	2.9	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.39809	0.1092	M	0.86805	2.84	0.39316	D	0.965168	D	0.89917	1.0	D	0.91635	0.999	T	0.42515	-0.9447	10	0.87932	D	0	-5.0439	16.3623	0.83273	0.0:1.0:0.0:0.0	.	412	P01833	PIGR_HUMAN	H	412	ENSP00000348888:R412H	ENSP00000348888:R412H	R	-	2	0	PIGR	205175597	0.986000	0.35501	0.961000	0.40146	0.005000	0.04900	2.018000	0.40991	2.720000	0.93068	0.655000	0.94253	CGC		0.637	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644	
OR2M5	127059	broad.mit.edu	37	1	248308541	248308541	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:248308541T>C	ENST00000366476.1	+	1	92	c.92T>C	c.(91-93)gTc>gCc	p.V31A		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCTTTCTGGTCCTGGCCATC	0.507																																						uc010pze.2																			0		p.L30L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49						c.(91-93)gTc>gCc		Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.							223.0	225.0	224.0					1																	248308541		2203	4297	6500	SO:0001583	missense	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308541T>C		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.92T>C	1.37:g.248308541T>C	ENSP00000355432:p.Val31Ala						p.V31A	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		0	92	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		31						Missense_Mutation	SNP	ENST00000366476.1	37	c.92T>C	CCDS31105.1	.	.	.	.	.	.	.	.	.	.	t	11.28	1.593307	0.28357	.	.	ENSG00000162727	ENST00000366476	T	0.00575	6.46	3.28	3.28	0.37604	.	1.047600	0.07707	U	0.941472	T	0.02230	0.0069	M	0.84433	2.695	0.09310	N	1	D	0.54964	0.969	P	0.52514	0.701	T	0.46541	-0.9184	10	0.72032	D	0.01	.	11.5465	0.50696	0.0:0.0:0.0:1.0	.	31	A3KFT3	OR2M5_HUMAN	A	31	ENSP00000355432:V31A	ENSP00000355432:V31A	V	+	2	0	OR2M5	246375164	0.092000	0.21681	0.019000	0.16419	0.003000	0.03518	2.901000	0.48695	1.250000	0.43966	0.403000	0.27427	GTC		0.507	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690	
DNAJC9	23234	broad.mit.edu	37	10	75006771	75006771	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr10:75006771G>C	ENST00000372950.4	-	1	1849	c.177C>G	c.(175-177)ttC>ttG	p.F59L	DNAJC9-AS1_ENST00000513954.1_RNA|DNAJC9-AS1_ENST00000440197.2_RNA|MRPS16_ENST00000416782.2_3'UTR|MRPS16_ENST00000479005.1_5'Flank	NM_015190.3	NP_056005.1	Q8WXX5	DNJC9_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 9	59	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				social behavior (GO:0035176)	nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TGCATACCTGGAAGCGGCGGG	0.736																																						uc001jtr.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6						c.(175-177)ttC>ttG		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 9 (DNAJC9), mRNA.							8.0	8.0	8.0					10																	75006771		2107	4164	6271	SO:0001583	missense	23234				protein folding		heat shock protein binding|unfolded protein binding	g.chr10:75006771G>C	AF327347	CCDS7322.1	10q22.3	2011-09-02			ENSG00000213551	ENSG00000213551		"""Heat shock proteins / DNAJ (HSP40)"""	19123	protein-coding gene	gene with protein product		611206					Standard	NM_015190		Approved	JDD1, SB73	uc001jtr.3	Q8WXX5	OTTHUMG00000018461	ENST00000372950.4:c.177C>G	10.37:g.75006771G>C	ENSP00000362041:p.Phe59Leu					DNAJC9_uc010qkg.2_Missense_Mutation_p.F59L|DNAJC9_uc010qkh.1_Non-coding_Transcript|DNAJC9-AS1_uc021ptm.1_5'Flank	p.F59L	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN			0	492	-	Prostate(51;0.0119)		59			J.		B2RMW6	Missense_Mutation	SNP	ENST00000372950.4	37	c.177C>G	CCDS7322.1	.	.	.	.	.	.	.	.	.	.	g	33	5.268829	0.95429	.	.	ENSG00000213551	ENST00000372950	T	0.46063	0.88	5.48	4.56	0.56223	Heat shock protein DnaJ, N-terminal (5);Heat shock protein DnaJ, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.62024	0.2394	M	0.87971	2.92	0.80722	D	1	D	0.54964	0.969	P	0.57502	0.822	T	0.68236	-0.5462	10	0.87932	D	0	.	10.5341	0.44994	0.0908:0.0:0.9092:0.0	.	59	Q8WXX5	DNJC9_HUMAN	L	59	ENSP00000362041:F59L	ENSP00000362041:F59L	F	-	3	2	DNAJC9	74676777	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	3.985000	0.56930	1.294000	0.44707	0.586000	0.80456	TTC		0.736	DNAJC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048643.1	NM_015190	
PTEN	5728	broad.mit.edu	37	10	89717636	89717636	+	Nonsense_Mutation	SNP	A	A	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr10:89717636A>T	ENST00000371953.3	+	7	2018	c.661A>T	c.(661-663)Aag>Tag	p.K221*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	221	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.K221*(1)|p.Q214fs*22(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGCCAGCTAAAGGTGAAGAT	0.413		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		51	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(1)|Substitution - Nonsense(1)|Complex - frameshift(1)|Unknown(1)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K221*(2)|p.K221fs*2(1)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.G165_K342del(1)|p.Q214fs*22(1)	prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|endometrium(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(661-663)Aag>Tag		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							135.0	117.0	123.0					10																	89717636		2203	4300	6503	SO:0001587	stop_gained	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89717636A>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.661A>T	10.37:g.89717636A>T	ENSP00000361021:p.Lys221*	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.K221*	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1693	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	221			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	c.661A>T	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	49	15.656331	0.99841	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.67	5.67	0.87782	.	0.042454	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.264	15.9118	0.79477	1.0:0.0:0.0:0.0	.	.	.	.	X	221	.	.	K	+	1	0	PTEN	89707616	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	2.162000	0.67917	0.477000	0.44152	AAG		0.413	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SLC22A11	55867	broad.mit.edu	37	11	64337166	64337166	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:64337166G>A	ENST00000301891.4	+	9	1799	c.1425G>A	c.(1423-1425)ggG>ggA	p.G475G	SLC22A11_ENST00000377585.3_Silent_p.G367G|SLC22A11_ENST00000377581.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	475					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	GCCGGCTGGGGGCTATGATGG	0.612																																						uc001oai.3																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1423-1425)ggG>ggA		Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	Probenecid(DB01032)						93.0	97.0	96.0					11																	64337166		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64337166G>A	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1425G>A	11.37:g.64337166G>A						SLC22A11_uc009ypq.3_Silent_p.G367G	p.G475G	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			8	1799	+			475					A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.1425G>A	CCDS8074.1																																																																																				0.612	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484	
PHLDB1	23187	broad.mit.edu	37	11	118521224	118521224	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:118521224G>A	ENST00000361417.2	+	21	4257	c.3846G>A	c.(3844-3846)cgG>cgA	p.R1282R	PHLDB1_ENST00000524713.1_Silent_p.R425R|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Silent_p.R333R|PHLDB1_ENST00000356063.5_Silent_p.R1235R	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1282	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTCGACCGGCTCAAGCGCA	0.572																																						uc001ptr.2																			0				breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46						c.(3844-3846)cgG>cgA		Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.							122.0	109.0	113.0					11																	118521224		2200	4295	6495	SO:0001819	synonymous_variant	23187							g.chr11:118521224G>A		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3846G>A	11.37:g.118521224G>A						PHLDB1_uc001pts.3_Silent_p.R1282R|PHLDB1_uc001ptt.3_Silent_p.R1235R|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.R1097R|PHLDB1_uc001ptw.2_Silent_p.R637R|PHLDB1_uc009zai.2_Silent_p.R318R|PHLDB1_uc001ptx.2_Silent_p.R318R	p.R1282R	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)	20	4199	+	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)	1282			PH.		B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Silent	SNP	ENST00000361417.2	37	c.3846G>A	CCDS8401.1																																																																																				0.572	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389279.1	NM_015157	
VPS26B	112936	broad.mit.edu	37	11	134104939	134104939	+	Silent	SNP	G	G	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:134104939G>T	ENST00000281187.5	+	2	850	c.372G>T	c.(370-372)gtG>gtT	p.V124V	VPS26B_ENST00000530402.1_3'UTR|VPS26B_ENST00000525095.2_Silent_p.V124V	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	124					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GGCAGAATGTGAAGCTACGGT	0.562																																					Colon(171;1263 1952 15904 45703 47982)	uc001qhe.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14						c.(370-372)gtG>gtT		Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.							95.0	81.0	86.0					11																	134104939		2201	4297	6498	SO:0001819	synonymous_variant	112936				protein transport|vacuolar transport	cytosol|retromer complex		g.chr11:134104939G>T		CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.372G>T	11.37:g.134104939G>T							p.V124V	NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)	1	828	+	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	124					Q96A55	Silent	SNP	ENST00000281187.5	37	c.372G>T	CCDS8495.1																																																																																				0.562	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875	
NANOG	79923	broad.mit.edu	37	12	7945568	7945568	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:7945568G>A	ENST00000229307.4	+	2	393	c.174G>A	c.(172-174)atG>atA	p.M58I	NANOG_ENST00000526286.1_Missense_Mutation_p.M58I	NM_024865.2	NP_079141.2	Q9H9S0	NANOG_HUMAN	Nanog homeobox	58					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|embryo development (GO:0009790)|embryonic pattern specification (GO:0009880)|endodermal cell fate specification (GO:0001714)|gonad development (GO:0008406)|mesodermal cell fate commitment (GO:0001710)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to retinoic acid (GO:0032526)|somatic stem cell maintenance (GO:0035019)|stem cell division (GO:0017145)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTTCCTCCATGGATCTGCTTA	0.388																																						uc009zfy.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(172-174)atG>atA		Homo sapiens Nanog homeobox (NANOG), mRNA.							101.0	104.0	103.0					12																	7945568		2203	4300	6503	SO:0001583	missense	79923				cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:7945568G>A	AB093576	CCDS31736.1, CCDS73436.1	12p13.31	2011-06-20			ENSG00000111704	ENSG00000111704		"""Homeoboxes / ANTP class : NKL subclass"""	20857	protein-coding gene	gene with protein product		607937				12787505, 12787504	Standard	XM_005253484		Approved	FLJ12581, FLJ40451	uc009zfy.1	Q9H9S0		ENST00000229307.4:c.174G>A	12.37:g.7945568G>A	ENSP00000229307:p.Met58Ile						p.M58I	NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN		Kidney(36;0.0872)	1	390	+			58					D3DUU4|Q2TTG0|Q6JZS5	Missense_Mutation	SNP	ENST00000229307.4	37	c.174G>A	CCDS31736.1	.	.	.	.	.	.	.	.	.	.	.	10.63	1.404063	0.25291	.	.	ENSG00000111704	ENST00000541267;ENST00000229307;ENST00000526286	D;D;D	0.90732	-2.72;-2.72;-2.71	4.55	2.49	0.30216	.	1.486330	0.03320	N	0.191828	D	0.87541	0.6203	L	0.59436	1.845	0.09310	N	1	B	0.33022	0.394	B	0.26614	0.071	T	0.73987	-0.3809	10	0.38643	T	0.18	0.7103	6.2351	0.20758	0.1057:0.1874:0.7069:0.0	.	58	Q9H9S0	NANOG_HUMAN	I	34;58;58	ENSP00000444434:M34I;ENSP00000229307:M58I;ENSP00000435288:M58I	ENSP00000229307:M58I	M	+	3	0	NANOG	7836835	0.289000	0.24334	0.020000	0.16555	0.035000	0.12851	0.333000	0.19768	1.001000	0.39076	0.556000	0.70494	ATG		0.388	NANOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387480.2	NM_024865	
KLRK1	22914	broad.mit.edu	37	12	10539553	10539553	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:10539553G>A	ENST00000240618.6	-	3	237	c.97C>T	c.(97-99)Cga>Tga	p.R33*	RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Nonsense_Mutation_p.R33*|KLRC4-KLRK1_ENST00000539300.1_3'UTR	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	33					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|natural killer cell activation (GO:0030101)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTTTGCCATCGTGTTGAAAAA	0.343																																						uc009zhj.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						c.(97-99)Cga>Tga		Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.							176.0	163.0	167.0					12																	10539553		2203	4298	6501	SO:0001587	stop_gained	22914				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding	g.chr12:10539553G>A	AJ001687	CCDS8623.1	12p13.2-p12.3	2010-02-17	2003-02-19		ENSG00000213809	ENSG00000213809		"""Killer cell lectin-like receptors"", ""CD molecules"""	18788	protein-coding gene	gene with protein product		611817	"""DNA segment on chromosome 12 (unique) 2489 expressed sequence"""	D12S2489E		9683661, 2007850	Standard	NM_007360		Approved	NKG2D, KLR, NKG2-D, CD314	uc009zhj.3	P26718	OTTHUMG00000168574	ENST00000240618.6:c.97C>T	12.37:g.10539553G>A	ENSP00000240618:p.Arg33*					AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Nonsense_Mutation_p.R33*|KLRK1_uc009zhk.3_Nonsense_Mutation_p.R33*|KLRK1_uc001qyd.3_Nonsense_Mutation_p.R33*	p.R33*	NM_007360	NP_001186734	P26718	NKG2D_HUMAN			2	274	-			33					A8K7K5|A8K7P4|Q9NR41	Nonsense_Mutation	SNP	ENST00000240618.6	37	c.97C>T	CCDS8623.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.633901	0.67130	.	.	ENSG00000213809	ENST00000240618;ENST00000540818	.	.	.	4.24	-0.361	0.12564	.	1.870760	0.02864	N	0.130710	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	6.7071	0.23257	0.0:0.1729:0.3367:0.4904	.	.	.	.	X	33	.	ENSP00000240618:R33X	R	-	1	2	KLRK1	10430820	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.413000	0.07123	0.107000	0.17824	0.557000	0.71058	CGA		0.343	KLRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400269.1	NM_007360	
GRIN2B	2904	broad.mit.edu	37	12	13906747	13906747	+	Missense_Mutation	SNP	C	C	T	rs201377003		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:13906747C>T	ENST00000609686.1	-	3	723	c.514G>A	c.(514-516)Gtc>Atc	p.V172I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	172					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TAGGTGGTGACGATAGAAAAG	0.463																																						uc001rbt.2																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(514-516)Gtc>Atc		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						122.0	117.0	118.0					12																	13906747		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906747C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.514G>A	12.37:g.13906747C>T	ENSP00000477455:p.Val172Ile						p.V172I	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			2	693	-			172					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.514G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595130	0.66219	.	.	ENSG00000150086	ENST00000279593	D	0.85629	-2.01	5.13	5.13	0.70059	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.86518	0.5952	L	0.39147	1.195	0.80722	D	1	P	0.50710	0.938	P	0.55391	0.775	T	0.83355	-0.0001	10	0.19590	T	0.45	.	18.5808	0.91170	0.0:1.0:0.0:0.0	.	172	Q13224	NMDE2_HUMAN	I	172	ENSP00000279593:V172I	ENSP00000279593:V172I	V	-	1	0	GRIN2B	13798014	1.000000	0.71417	0.982000	0.44146	0.994000	0.84299	6.027000	0.70881	2.373000	0.80994	0.561000	0.74099	GTC		0.463	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2		
ESPL1	9700	broad.mit.edu	37	12	53662559	53662559	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:53662559C>A	ENST00000257934.4	+	2	100	c.9C>A	c.(7-9)agC>agA	p.S3R	ESPL1_ENST00000552462.1_Missense_Mutation_p.S3R	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	3					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCATGAGGAGCTTCAAAAGAG	0.527																																					Colon(53;1069 1201 2587 5382)	uc001sck.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(7-9)agC>agA		Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.							43.0	41.0	41.0					12																	53662559		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53662559C>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.9C>A	12.37:g.53662559C>A	ENSP00000257934:p.Ser3Arg					ESPL1_uc001scj.2_5'UTR	p.S3R	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			1	100	+			3						Missense_Mutation	SNP	ENST00000257934.4	37	c.9C>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.963211	0.53507	.	.	ENSG00000135476	ENST00000257934;ENST00000552462	T;T	0.11821	2.74;2.74	5.95	4.13	0.48395	.	0.509465	0.21510	N	0.073395	T	0.15782	0.0380	M	0.62723	1.935	0.24652	N	0.993513	B	0.14438	0.01	B	0.14023	0.01	T	0.12734	-1.0536	10	0.66056	D	0.02	.	9.5396	0.39244	0.0:0.8373:0.0:0.1627	.	3	Q14674	ESPL1_HUMAN	R	3	ENSP00000257934:S3R;ENSP00000449831:S3R	ENSP00000257934:S3R	S	+	3	2	ESPL1	51948826	0.998000	0.40836	0.996000	0.52242	0.881000	0.50899	1.863000	0.39459	1.527000	0.49086	0.655000	0.94253	AGC		0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291	
VWA8	23078	broad.mit.edu	37	13	42142433	42142433	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr13:42142433C>A	ENST00000379310.3	-	45	5686	c.5618G>T	c.(5617-5619)aGa>aTa	p.R1873I	MIR5006_ENST00000583027.1_RNA	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1873	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TGGTAAAGTTCTCTGAAGCCT	0.502																																						uc001uyj.3																			0				endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						c.(5617-5619)aGa>aTa		Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.							92.0	93.0	93.0					13																	42142433		1903	4106	6009	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42142433C>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.5618G>T	13.37:g.42142433C>A	ENSP00000368612:p.Arg1873Ile						p.R1873I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	44	5688	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1873			VWFA.		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.5618G>T	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.258606	0.80246	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.15139	2.45	6.06	2.63	0.31362	von Willebrand factor, type A (2);	0.290655	0.39146	N	0.001445	T	0.29423	0.0733	M	0.71581	2.175	0.80722	D	1	P	0.50819	0.939	P	0.52267	0.694	T	0.07065	-1.0792	10	0.66056	D	0.02	.	11.4385	0.50083	0.0:0.7453:0.0:0.2547	.	1873	A3KMH1	K0564_HUMAN	I	1777;1873	ENSP00000368612:R1873I	ENSP00000251030:R1777I	R	-	2	0	KIAA0564	41040433	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.727000	0.25999	0.709000	0.31976	0.655000	0.94253	AGA		0.502	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058	
SYNE3	161176	broad.mit.edu	37	14	95932331	95932331	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr14:95932331G>A	ENST00000334258.5	-	3	578	c.564C>T	c.(562-564)agC>agT	p.S188S	SYNE3_ENST00000557275.1_Silent_p.S188S|SYNE3_ENST00000553340.1_Silent_p.S188S	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	188					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						CTTCGTCCACGCTGGGGTCCC	0.627																																						uc001yei.4																			0		p.P187P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(562-564)agC>agT		Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.							128.0	102.0	111.0					14																	95932331		2203	4300	6503	SO:0001819	synonymous_variant	161176				cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	g.chr14:95932331G>A	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.564C>T	14.37:g.95932331G>A						C14orf49_uc010avi.3_Silent_p.S188S|C14orf49_uc001yej.1_Silent_p.S188S	p.S188S	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN		COAD - Colon adenocarcinoma(157;0.245)	2	579	-		all_cancers(154;0.0937)	188					A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	37	c.564C>T	CCDS9935.1																																																																																				0.627	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
RP11-467N20.5	0	broad.mit.edu	37	15	23412214	23412214	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:23412214C>A	ENST00000558241.1	-	2	333	c.243G>T	c.(241-243)aaG>aaT	p.K81N																	endometrium(1)	1						TTATTTTCTTCTTTTTGGTGT	0.512																																						uc010uab.1																			0				NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						c.(109-111)aaG>aaT		Homo sapiens golgin A6 family-like 1 (GOLGA6L1), mRNA.																																				SO:0001583	missense	283767							g.chr15:23412214C>A																												ENST00000558241.1:c.243G>T	15.37:g.23412214C>A	ENSP00000453436:p.Lys81Asn						p.K37N	NM_001001413	NP_001001413					1	136	-									Missense_Mutation	SNP	ENST00000558241.1	37	c.111G>T																																																																																					0.512	RP11-467N20.5-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000415942.1		
CHRFAM7A	89832	broad.mit.edu	37	15	30664456	30664456	+	Silent	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:30664456C>T	ENST00000299847.2	-	7	870	c.417G>A	c.(415-417)agG>agA	p.R139R	CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000397827.3_Silent_p.R48R|CHRFAM7A_ENST00000401522.3_Silent_p.R48R	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	139						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		AGTAGAGCGTCCTGCGGCGCA	0.572																																						uc001zdt.1																			0				large_intestine(3)|lung(1)|skin(2)	6						c.(415-417)agG>agA		Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.							58.0	56.0	56.0					15																	30664456		1622	3534	5156	SO:0001819	synonymous_variant	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30664456C>T	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.417G>A	15.37:g.30664456C>T						DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.R48R|CHRFAM7A_uc010azn.2_Silent_p.R48R	p.R139R	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	6	983	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	139					A8KAB9	Silent	SNP	ENST00000299847.2	37	c.417G>A	CCDS32184.1																																																																																				0.572	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	NM_148911	
RYR3	6263	broad.mit.edu	37	15	33952594	33952594	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:33952594T>A	ENST00000389232.4	+	34	4662	c.4592T>A	c.(4591-4593)aTg>aAg	p.M1531K	RYR3_ENST00000415757.3_Missense_Mutation_p.M1531K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1531	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)			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)		CCCCTGCAGATGATGGCGCTC	0.672																																						uc001zhi.3																			0				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						c.(4591-4593)aTg>aAg		Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.							15.0	17.0	16.0					15																	33952594		2124	4257	6381	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33952594T>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.4592T>A	15.37:g.33952594T>A	ENSP00000373884:p.Met1531Lys					RYR3_uc010bar.3_Missense_Mutation_p.M1531K	p.M1531K	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)	33	4662	+		all_lung(180;7.18e-09)	1531			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.4592T>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	19.69	3.875560	0.72180	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96856	-4.14;-4.15	4.84	4.84	0.62591	.	0.047434	0.85682	D	0.000000	D	0.95652	0.8586	M	0.80847	2.515	0.58432	D	0.999999	P;B	0.39131	0.661;0.258	B;B	0.37267	0.245;0.157	D	0.96116	0.9081	10	0.72032	D	0.01	.	14.5951	0.68400	0.0:0.0:0.0:1.0	.	1531;1531	Q15413-2;Q15413	.;RYR3_HUMAN	K	1531	ENSP00000373884:M1531K;ENSP00000399610:M1531K	ENSP00000354735:M1531K	M	+	2	0	RYR3	31739886	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.820000	0.86633	2.035000	0.60131	0.533000	0.62120	ATG		0.672	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
WDR72	256764	broad.mit.edu	37	15	53998128	53998128	+	Silent	SNP	A	A	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:53998128A>G	ENST00000396328.1	-	10	1337	c.1098T>C	c.(1096-1098)ccT>ccC	p.P366P	WDR72_ENST00000559418.1_Silent_p.P376P|WDR72_ENST00000557913.1_Silent_p.P363P|WDR72_ENST00000360509.5_Silent_p.P366P	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	366										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACTTACCTCTAGGAGAACCAT	0.383																																						uc002acj.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1096-1098)ccT>ccC		Homo sapiens WD repeat domain 72 (WDR72), mRNA.							93.0	90.0	91.0					15																	53998128		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53998128A>G	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1098T>C	15.37:g.53998128A>G						WDR72_uc010bfi.1_Silent_p.P366P	p.P366P	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	9	1140	-			366					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.1098T>C	CCDS10151.1																																																																																				0.383	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758	
PCSK6	5046	broad.mit.edu	37	15	101972225	101972225	+	Silent	SNP	G	G	A	rs117473739	byFrequency	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:101972225G>A	ENST00000348070.1	-	4	479	c.480C>T	c.(478-480)aaC>aaT	p.N160N	PCSK6_ENST00000398181.2_Silent_p.N160N|PCSK6_ENST00000344273.2_Silent_p.N160N|PCSK6_ENST00000358417.3_Silent_p.N160N|PCSK6_ENST00000331826.7_5'Flank|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	161					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAATGGGGTCGTTGAAGTAAA	0.512													G|||	8	0.00159744	0.0	0.0	5008	,	,		17700	0.0079		0.0	False		,,,				2504	0.0					uc002bxa.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(478-480)aaC>aaT		Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.							85.0	101.0	96.0					15																	101972225		1938	4125	6063	SO:0001819	synonymous_variant	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101972225G>A		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.480C>T	15.37:g.101972225G>A						PCSK6_uc010bpd.3_Silent_p.N31N|PCSK6_uc002bwy.3_Silent_p.N160N|PCSK6_uc010bpe.3_Silent_p.N157N|PCSK6_uc002bxb.2_Silent_p.N160N|PCSK6_uc002bxc.1_Silent_p.N160N|PCSK6_uc002bxd.1_Silent_p.N160N|PCSK6_uc002bxe.3_Silent_p.N160N|PCSK6_uc002bxg.1_Silent_p.N160N	p.N160N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		3	794	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		161			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Silent	SNP	ENST00000348070.1	37	c.480C>T																																																																																					0.512	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
TSC2	7249	broad.mit.edu	37	16	2134267	2134267	+	Missense_Mutation	SNP	C	C	A	rs137854084		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:2134267C>A	ENST00000219476.3	+	34	4674	c.4044C>A	c.(4042-4044)caC>caA	p.H1348Q	TSC2_ENST00000382538.6_Missense_Mutation_p.H1233Q|TSC2_ENST00000439673.2_Missense_Mutation_p.H1245Q|TSC2_ENST00000568454.1_Missense_Mutation_p.H1292Q|TSC2_ENST00000401874.2_Missense_Mutation_p.H1281Q|TSC2_ENST00000353929.4_Missense_Mutation_p.H1305Q|TSC2_ENST00000350773.4_Missense_Mutation_p.H1325Q	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1348					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGTCGCTCCACGCGGAGGAGC	0.657			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.3			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56						c.(4042-4044)caC>caA		Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.							26.0	23.0	24.0					16																	2134267		2186	4295	6481	SO:0001583	missense	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2134267C>A	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.4044C>A	16.37:g.2134267C>A	ENSP00000219476:p.His1348Gln					TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.H1325Q|TSC2_uc002coo.3_Missense_Mutation_p.H1281Q|TSC2_uc010uvv.2_Missense_Mutation_p.H1245Q|TSC2_uc010uvw.2_Missense_Mutation_p.H1233Q|TSC2_uc002cop.3_Missense_Mutation_p.H1104Q|TSC2_uc002coq.3_Missense_Mutation_p.H123Q	p.H1348Q	NM_000548	NP_000539	P49815	TSC2_HUMAN			33	4150	+		Hepatocellular(780;0.0202)	1348					A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.4044C>A	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	0.075	-1.195284	0.01594	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.88277	-2.27;-2.26;-2.36;-2.32;-2.27	4.85	-4.23	0.03789	.	0.918081	0.09297	N	0.821531	T	0.71676	0.3368	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B;B	0.34241	0.025;0.043;0.043;0.444;0.043;0.043;0.215	B;B;B;B;B;B;B	0.30943	0.024;0.052;0.052;0.122;0.052;0.052;0.03	T	0.60239	-0.7302	10	0.27785	T	0.31	-0.3367	10.6133	0.45434	0.0:0.3955:0.0:0.6045	.	1233;1245;1325;123;1304;1281;1348	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	Q	1348;1282;1305;1245;1233;1325	ENSP00000219476:H1348Q;ENSP00000248099:H1305Q;ENSP00000399232:H1245Q;ENSP00000371978:H1233Q;ENSP00000344383:H1325Q	ENSP00000219476:H1348Q	H	+	3	2	TSC2	2074268	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-4.236000	0.00268	-1.222000	0.02587	-0.300000	0.09419	CAC		0.657	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						uc002edh.1																			0											c.(262-264)aaA>aaC		Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																																						386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G						SLC6A10P_uc002edi.1_Non-coding_Transcript	p.K88N							4	440	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.264A>C																																																																																					0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2		
CHD9	80205	broad.mit.edu	37	16	53190198	53190198	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:53190198C>A	ENST00000398510.3	+	1	284	c.197C>A	c.(196-198)aCt>aAt	p.T66N	CHD9_ENST00000566029.1_Missense_Mutation_p.T66N|CHD9_ENST00000447540.1_Missense_Mutation_p.T66N|CHD9_ENST00000564845.1_Missense_Mutation_p.T66N			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	66					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGAAGATGACTGATTTTGAA	0.363																																						uc002ehb.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(196-198)aCt>aAt		Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.							95.0	89.0	91.0					16																	53190198		1859	4092	5951	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53190198C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.197C>A	16.37:g.53190198C>A	ENSP00000381522:p.Thr66Asn					CHD9_uc002egy.3_Missense_Mutation_p.T66N|CHD9_uc002egz.1_Missense_Mutation_p.T66N|CHD9_uc002ehc.3_Missense_Mutation_p.T66N	p.T66N	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			0	361	+		all_cancers(37;0.0212)	66					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.197C>A		.	.	.	.	.	.	.	.	.	.	C	10.06	1.246408	0.22796	.	.	ENSG00000177200	ENST00000447540;ENST00000398510	T;T	0.63913	-0.07;-0.07	5.84	2.58	0.30949	.	0.417116	0.21864	N	0.067981	T	0.40272	0.1110	N	0.12182	0.205	0.20975	N	0.999814	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.28364	-1.0046	10	0.42905	T	0.14	-2.9064	8.8215	0.35030	0.3365:0.3309:0.3326:0.0	.	66;66;66;66	Q3L8U1-3;Q3L8U1;Q8NAR9;Q3L8U1-2	.;CHD9_HUMAN;.;.	N	66	ENSP00000396345:T66N;ENSP00000381522:T66N	ENSP00000381522:T66N	T	+	2	0	CHD9	51747699	0.998000	0.40836	0.998000	0.56505	0.998000	0.95712	0.595000	0.24029	0.758000	0.33059	0.650000	0.86243	ACT		0.363	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
SLC38A7	55238	broad.mit.edu	37	16	58705012	58705012	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:58705012C>G	ENST00000570101.1	-	9	2051	c.1168G>C	c.(1168-1170)Gac>Cac	p.D390H	SLC38A7_ENST00000219320.4_Missense_Mutation_p.D390H|SLC38A7_ENST00000564010.1_Missense_Mutation_p.D301H|SLC38A7_ENST00000564100.1_Intron|SLC38A7_ENST00000566953.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	390					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TTGCCGATGTCAGGGATGAAG	0.667																																						uc002eod.1																			0				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1168-1170)Gac>Cac		Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.							34.0	32.0	33.0					16																	58705012		2196	4298	6494	SO:0001583	missense	55238				amino acid transport|sodium ion transport	integral to membrane		g.chr16:58705012C>G	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.1168G>C	16.37:g.58705012C>G	ENSP00000454646:p.Asp390His					SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Missense_Mutation_p.D301H	p.D390H	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN			9	1561	-			390					Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	37	c.1168G>C	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026859	0.93518	.	.	ENSG00000103042	ENST00000219320	T	0.02197	4.4	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.13970	0.0338	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00128	-1.2017	9	.	.	.	.	18.7738	0.91902	0.0:1.0:0.0:0.0	.	390	Q9NVC3	S38A7_HUMAN	H	390	ENSP00000219320:D390H	.	D	-	1	0	SLC38A7	57262513	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.402000	0.79972	2.684000	0.91462	0.555000	0.69702	GAC		0.667	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231	
C16orf70	80262	broad.mit.edu	37	16	67183810	67183810	+	IGR	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:67183810C>A	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Silent_p.L193L	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		AGGCCCAGAGCAGGATGTCCG	0.642																																						uc002erg.1																			0											c.(211-213)agC>agA		Homo sapiens cDNA clone IMAGE:3530459, **** WARNING: chimeric clone ****.							33.0	34.0	34.0					16																	67183810		2004	4177	6181	SO:0001628	intergenic_variant	84752							g.chr16:67183810C>A	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67183810C>A						B3GNT9_uc002erf.3_Silent_p.L193L|B3GNT9_uc021tka.1_Silent_p.L193L	p.S71R							0	692	+								Q9HA86	Silent	SNP	ENST00000219139.3	37	c.213C>A	CCDS10828.1																																																																																				0.642	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	
C16orf70	80262	broad.mit.edu	37	16	67184087	67184087	+	IGR	SNP	T	T	G	rs201858011		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:67184087T>G	ENST00000219139.3	+	0	2865				B3GNT9_ENST00000449549.3_Missense_Mutation_p.N101T	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70											cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		GTGCGGCTGGTTAATGAGCAG	0.672																																						uc021tka.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(301-303)aAc>aCc		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 (B3GNT9), mRNA.							8.0	10.0	9.0					16																	67184087		1863	4028	5891	SO:0001628	intergenic_variant	84752				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	g.chr16:67184087T>G	AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510		16.37:g.67184087T>G						B3GNT9_uc002erf.3_Missense_Mutation_p.N101T|BC007896_uc002erg.1_Missense_Mutation_p.L164V	p.N101T	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN			0	302	-			101					Q9HA86	Missense_Mutation	SNP	ENST00000219139.3	37	c.302A>C	CCDS10828.1	.	.	.	.	.	.	.	.	.	.	t	14.28	2.487031	0.44249	.	.	ENSG00000237172	ENST00000449549	T	0.33438	1.41	4.41	3.31	0.37934	.	.	.	.	.	T	0.50000	0.1590	M	0.66297	2.02	0.26345	N	0.977308	D	0.76494	0.999	D	0.70935	0.971	T	0.35871	-0.9771	9	0.87932	D	0	.	9.3217	0.37968	0.1609:0.0:0.0:0.8391	.	101	Q6UX72	B3GN9_HUMAN	T	101	ENSP00000400157:N101T	ENSP00000400157:N101T	N	-	2	0	B3GNT9	65741588	1.000000	0.71417	0.999000	0.59377	0.061000	0.15899	4.950000	0.63603	0.552000	0.29026	-0.792000	0.03331	AAC		0.672	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268829.2	NM_025187	
ARHGAP44	9912	broad.mit.edu	37	17	12887884	12887884	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr17:12887884C>A	ENST00000379672.5	+	20	2276	c.1976C>A	c.(1975-1977)cCc>cAc	p.P659H	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.P653H|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.P659H	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	659					exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						CCCAAGGTCCCCTTTGGCCAG	0.582																																						uc002gnr.4																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						c.(1975-1977)cCc>cAc		Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA.							41.0	44.0	43.0					17																	12887884		1852	4096	5948	SO:0001583	missense	9912				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr17:12887884C>A		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.1976C>A	17.37:g.12887884C>A	ENSP00000368994:p.Pro659His					ARHGAP44_uc010vvk.2_Missense_Mutation_p.P659H|ARHGAP44_uc010vvl.2_Missense_Mutation_p.P653H|ARHGAP44_uc002gns.4_Missense_Mutation_p.P453H|ARHGAP44_uc010vvm.2_Missense_Mutation_p.P653H|ARHGAP44_uc010vvn.2_Non-coding_Transcript|ARHGAP44_uc021tqh.1_5'Flank	p.P659H	NM_014859	NP_055674	Q17R89	RHG44_HUMAN			19	2303	+			659					A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	37	c.1976C>A	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404214	0.83230	.	.	ENSG00000006740	ENST00000379672;ENST00000544416;ENST00000340825;ENST00000262444	T;T	0.28454	1.61;1.63	4.9	4.9	0.64082	.	0.063063	0.64402	D	0.000004	T	0.49133	0.1539	L	0.49778	1.585	0.46396	D	0.999022	D;D;D;D	0.89917	0.986;0.993;1.0;0.992	P;D;D;P	0.68943	0.754;0.924;0.961;0.754	T	0.51092	-0.8749	10	0.87932	D	0	.	15.5808	0.76439	0.0:1.0:0.0:0.0	.	653;117;315;659	A6NCP5;E7ERK8;F5H6L3;Q17R89	.;.;.;RHG44_HUMAN	H	659;315;653;117	ENSP00000368994:P659H;ENSP00000342566:P653H	ENSP00000262444:P117H	P	+	2	0	ARHGAP44	12828609	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.935000	0.75886	2.267000	0.75376	0.455000	0.32223	CCC		0.582	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	
NEUROD2	4761	broad.mit.edu	37	17	37762281	37762281	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr17:37762281G>A	ENST00000302584.4	-	2	792	c.572C>T	c.(571-573)aCt>aTt	p.T191I		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	191					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|cellular response to calcium ion (GO:0071277)|cellular response to electrical stimulus (GO:0071257)|cerebellar cortex development (GO:0021695)|negative regulation of synapse maturation (GO:2000297)|nervous system development (GO:0007399)|neuron development (GO:0048666)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|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 transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CTTGCACAGAGTCTGCACGTA	0.622																																						uc002hry.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8						c.(571-573)aCt>aTt		Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.							30.0	32.0	31.0					17																	37762281		2203	4300	6503	SO:0001583	missense	4761				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr17:37762281G>A	U58681	CCDS11338.1	17q12	2013-05-21	2012-02-22		ENSG00000171532	ENSG00000171532		"""Basic helix-loop-helix proteins"""	7763	protein-coding gene	gene with protein product		601725	"""neurogenic differentiation 2"""			9119405	Standard	XM_005257409		Approved	NDRF, bHLHa1	uc002hry.3	Q15784	OTTHUMG00000133211	ENST00000302584.4:c.572C>T	17.37:g.37762281G>A	ENSP00000306754:p.Thr191Ile					NEUROD2_uc021tws.1_Missense_Mutation_p.T191I	p.T191I	NM_006160	NP_006151	Q15784	NDF2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)		1	772	-	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		191					Q8TBI7|Q9UQC6	Missense_Mutation	SNP	ENST00000302584.4	37	c.572C>T	CCDS11338.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645208	0.67358	.	.	ENSG00000171532	ENST00000302584	T	0.66099	-0.19	5.29	5.29	0.74685	Neurogenic differentiation factor, domain of unknown function (1);	0.000000	0.85682	U	0.000000	T	0.69620	0.3131	M	0.75777	2.31	0.80722	D	1	P	0.48162	0.906	P	0.46825	0.528	T	0.73325	-0.4018	10	0.49607	T	0.09	-13.3143	17.6966	0.88283	0.0:0.0:1.0:0.0	.	191	Q15784	NDF2_HUMAN	I	191	ENSP00000306754:T191I	ENSP00000306754:T191I	T	-	2	0	NEUROD2	35015807	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.788000	0.85771	2.460000	0.83146	0.561000	0.74099	ACT		0.622	NEUROD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256931.2	NM_006160	
ZNF516	9658	broad.mit.edu	37	18	74090999	74090999	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr18:74090999G>A	ENST00000443185.2	-	4	3388	c.3071C>T	c.(3070-3072)gCg>gTg	p.A1024V	RP11-504I13.3_ENST00000583287.1_RNA|ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1024					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGCAAGGCCGCGTCGCCCCT	0.721																																						uc021ulp.1																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(3070-3072)gCg>gTg		Homo sapiens zinc finger protein 516 (ZNF516), mRNA.							22.0	26.0	25.0					18																	74090999		1921	4089	6010	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74090999G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3071C>T	18.37:g.74090999G>A	ENSP00000394757:p.Ala1024Val					ZNF516_uc002lmd.3_Non-coding_Transcript	p.A1024V	NM_014643	NP_055458	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	3389	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	1024						Missense_Mutation	SNP	ENST00000443185.2	37	c.3071C>T		.	.	.	.	.	.	.	.	.	.	g	7.970	0.748888	0.15710	.	.	ENSG00000101493	ENST00000443185	T	0.09817	2.94	3.82	2.94	0.34122	.	1.555390	0.04036	N	0.302271	T	0.10680	0.0261	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31081	-0.9956	9	0.46703	T	0.11	.	10.1695	0.42902	0.0948:0.0:0.9052:0.0	.	1024	Q92618	ZN516_HUMAN	V	1024	ENSP00000394757:A1024V	ENSP00000394757:A1024V	A	-	2	0	ZNF516	72219987	0.892000	0.30473	0.001000	0.08648	0.059000	0.15707	5.710000	0.68392	0.960000	0.38005	-0.436000	0.05848	GCG		0.721	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
EVI5L	115704	broad.mit.edu	37	19	7928493	7928493	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:7928493C>A	ENST00000270530.4	+	19	2486	c.2290C>A	c.(2290-2292)Cgc>Agc	p.R764S	EVI5L_ENST00000538904.2_Missense_Mutation_p.R775S	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	764					negative regulation of cilium assembly (GO:1902018)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGCTTCTTCCGCCGTCTGGA	0.687																																						uc010xjz.2																			0				breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						c.(2323-2325)Cgc>Agc		Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.							14.0	11.0	12.0					19																	7928493		2167	4265	6432	SO:0001583	missense	115704					intracellular	protein binding|Rab GTPase activator activity	g.chr19:7928493C>A	BC014111	CCDS12188.1, CCDS54209.1	19p13	2013-07-09				ENSG00000142459			30464	protein-coding gene	gene with protein product						23669355	Standard	NM_001159944		Approved		uc010xjz.2	Q96CN4		ENST00000270530.4:c.2290C>A	19.37:g.7928493C>A	ENSP00000270530:p.Arg764Ser					EVI5L_uc002min.3_Missense_Mutation_p.R764S	p.R775S	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN			18	2370	+			764					B9A6I9	Missense_Mutation	SNP	ENST00000270530.4	37	c.2323C>A	CCDS12188.1	.	.	.	.	.	.	.	.	.	.	C	6.810	0.518482	0.13005	.	.	ENSG00000142459	ENST00000270530;ENST00000538904	T;T	0.07327	3.2;3.2	4.37	2.15	0.27550	.	0.188543	0.33161	N	0.005202	T	0.04137	0.0115	N	0.14661	0.345	0.29750	N	0.836428	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.41324	-0.9515	10	0.07175	T	0.84	-15.7693	10.1115	0.42565	0.5512:0.4488:0.0:0.0	.	775;764	B9A6I9;Q96CN4	.;EVI5L_HUMAN	S	764;775	ENSP00000270530:R764S;ENSP00000445905:R775S	ENSP00000270530:R764S	R	+	1	0	EVI5L	7834493	0.995000	0.38212	0.814000	0.32528	0.031000	0.12232	1.039000	0.30266	0.432000	0.26286	-0.448000	0.05591	CGC		0.687	EVI5L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000461347.1	NM_145245	
CILP2	148113	broad.mit.edu	37	19	19654993	19654993	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:19654993G>A	ENST00000291495.5	+	8	1724	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	CILP2_ENST00000586018.1_Missense_Mutation_p.V553M	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	547						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGTGCCGGCGTGTACCACGA	0.622																																						uc002nmw.4																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						c.(1657-1659)Gtg>Atg		Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.							64.0	68.0	67.0					19																	19654993		2203	4300	6503	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19654993G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.1639G>A	19.37:g.19654993G>A	ENSP00000291495:p.Val547Met					CILP2_uc002nmv.4_Missense_Mutation_p.V547M	p.V553M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			7	1742	+			547					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.1657G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634166	0.47049	.	.	ENSG00000160161	ENST00000291495	T	0.51574	0.7	3.77	3.77	0.43336	Carbohydrate-binding-like fold (1);	0.078660	0.52532	D	0.000075	T	0.63988	0.2558	M	0.64404	1.975	0.41635	D	0.989045	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.68743	-0.5328	10	0.72032	D	0.01	-21.0925	13.1452	0.59456	0.0:0.0:1.0:0.0	.	547;547	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	M	547	ENSP00000291495:V547M	ENSP00000291495:V547M	V	+	1	0	CILP2	19515993	1.000000	0.71417	0.830000	0.32933	0.769000	0.43574	4.248000	0.58760	1.662000	0.50781	0.430000	0.28490	GTG		0.622	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3	NM_153221	
PSG3	5671	broad.mit.edu	37	19	43233959	43233959	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:43233959C>T	ENST00000327495.5	-	4	1143	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PSG3_ENST00000595140.1_Missense_Mutation_p.R320H	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	320	Ig-like C2-type 2.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGGGTAACTGCGGATGCCACC	0.493																																						uc002oue.3																			0		p.R320C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						c.(958-960)cGc>cAc		Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.							172.0	155.0	161.0					19																	43233959		1511	2709	4220	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233959C>T		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.959G>A	19.37:g.43233959C>T	ENSP00000332215:p.Arg320His					PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	p.R320H	NM_021016	NP_066296	Q16557	PSG3_HUMAN			3	1091	-		Prostate(69;0.00682)	320			Ig-like C2-type 2.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.959G>A	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	c	6.209	0.406675	0.11754	.	.	ENSG00000221826	ENST00000327495	T	0.12672	2.66	1.36	-1.54	0.08584	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.13841	0.0335	M	0.71206	2.165	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.13407	0.005;0.009	T	0.31138	-0.9954	9	0.49607	T	0.09	.	4.4009	0.11386	0.0:0.579:0.0:0.421	.	298;320	Q08266;Q16557	.;PSG3_HUMAN	H	320	ENSP00000332215:R320H	ENSP00000332215:R320H	R	-	2	0	PSG3	47925799	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.201000	0.09464	-0.448000	0.07128	0.400000	0.26472	CGC		0.493	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016	
RUVBL2	10856	broad.mit.edu	37	19	49510608	49510608	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:49510608C>T	ENST00000595090.1	+	6	909	c.445C>T	c.(445-447)Cga>Tga	p.R149*	RUVBL2_ENST00000601968.1_Nonsense_Mutation_p.R104*|RUVBL2_ENST00000413176.2_Nonsense_Mutation_p.R104*	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	149					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGATTGATCGACCAGCAAC	0.587																																						uc002plr.1																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(445-447)Cga>Tga		Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.							114.0	123.0	120.0					19																	49510608		2098	4240	6338	SO:0001587	stop_gained	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49510608C>T	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.445C>T	19.37:g.49510608C>T	ENSP00000473172:p.Arg149*					RUVBL2_uc010yab.2_Nonsense_Mutation_p.R149*|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Nonsense_Mutation_p.R104*	p.R149*	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	5	458	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	149					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Nonsense_Mutation	SNP	ENST00000595090.1	37	c.445C>T	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	C	48	13.908641	0.99769	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.4016	10.7461	0.46181	0.1897:0.8103:0.0:0.0	.	.	.	.	X	149;104	.	ENSP00000221413:R149X	R	+	1	2	RUVBL2	54202420	0.912000	0.30974	0.894000	0.35097	0.674000	0.39518	1.780000	0.38634	2.667000	0.90743	0.561000	0.74099	CGA		0.587	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1		
LHB	3972	broad.mit.edu	37	19	49519328	49519328	+	Silent	SNP	G	G	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:49519328G>T	ENST00000221421.2	-	3	422	c.423C>A	c.(421-423)ctC>ctA	p.L141L	CTB-60B18.10_ENST00000600007.1_lincRNA	NM_000894.2	NP_000885.1	P01229	LSHB_HUMAN	luteinizing hormone beta polypeptide	141					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|male gonad development (GO:0008584)|peptide hormone processing (GO:0016486)|progesterone biosynthetic process (GO:0006701)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		AGGGTCTTTAGAGGAAGAGGA	0.622																																						uc002plt.3																			0				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(421-423)ctC>ctA		Homo sapiens luteinizing hormone beta polypeptide (LHB), mRNA.	Lutropin alfa(DB00044)|Menotropins(DB00032)						55.0	62.0	60.0					19																	49519328		2203	4300	6503	SO:0001819	synonymous_variant	3972				cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49519328G>T		CCDS12748.1	19q13.3	2013-02-26				ENSG00000104826		"""Endogenous ligands"""	6584	protein-coding gene	gene with protein product	"""lutropin, beta chain"", ""interstitial cell stimulating hormone, beta chain"", ""luteinizing hormone beta subunit"""	152780				1191677	Standard	NM_000894		Approved	LSH-B, CGB4, hLHB	uc002plt.3	P01229		ENST00000221421.2:c.423C>A	19.37:g.49519328G>T							p.L141L	NM_000894	NP_000885	P01229	LSHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	2	432	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	141					Q9UDI0	Silent	SNP	ENST00000221421.2	37	c.423C>A	CCDS12748.1	.	.	.	.	.	.	.	.	.	.	G	0.311	-0.967875	0.02232	.	.	ENSG00000104826	ENST00000391870	.	.	.	4.71	3.64	0.41730	.	.	.	.	.	T	0.70833	0.3269	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73464	-0.3974	5	0.87932	D	0	.	10.9763	0.47467	0.0:0.19:0.81:0.0	.	.	.	.	Y	156	.	ENSP00000375743:S156Y	S	-	2	0	LHB	54211140	0.988000	0.35896	0.929000	0.37066	0.029000	0.11900	1.584000	0.36589	1.064000	0.40671	0.462000	0.41574	TCT		0.622	LHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466246.1	NM_000894	
AP2A1	160	broad.mit.edu	37	19	50270423	50270423	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:50270423G>A	ENST00000359032.5	+	1	33	c.33G>A	c.(31-33)cgG>cgA	p.R11R	AP2A1_ENST00000354293.5_Silent_p.R11R|RNU6-841P_ENST00000383872.1_RNA|AP2A1_ENST00000600199.1_3'UTR	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	11					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGGGATGCGGGGGCTCGCGG	0.706																																						uc002ppn.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19						c.(31-33)cgG>cgA		Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.							24.0	27.0	26.0					19																	50270423		1856	4058	5914	SO:0001819	synonymous_variant	160				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity	g.chr19:50270423G>A	AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.33G>A	19.37:g.50270423G>A						AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.3_Silent_p.R11R	p.R11R	NM_014203	NP_055018	O95782	AP2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)	0	244	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	11					Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	c.33G>A	CCDS46148.1																																																																																				0.706	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1		
CEACAM18	729767	broad.mit.edu	37	19	51981792	51981792	+	5'Flank	SNP	C	C	G	rs140323408	byFrequency	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:51981792C>G	ENST00000396477.4	+	0	0				CEACAM18_ENST00000451626.1_Missense_Mutation_p.R27G	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18									p.R27*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCTGGGAGACGAGACCGGCA	0.647																																						uc002pwv.1																			1	Substitution - Nonsense(1)	p.R27*(1)	ovary(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17						c.(79-81)Cga>Gga		Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.							13.0	16.0	15.0					19																	51981792		1944	4139	6083	SO:0001631	upstream_gene_variant	729767					integral to membrane		g.chr19:51981792C>G			19q13.41	2013-01-29				ENSG00000213822		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31949	protein-coding gene	gene with protein product							Standard	NM_001278392		Approved		uc002pwv.1	A8MTB9			19.37:g.51981792C>G	Exception_encountered						p.R27G	NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	79	+		all_neural(266;0.0529)	27					C9JN24	Missense_Mutation	SNP	ENST00000396477.4	37	c.79C>G		.	.	.	.	.	.	.	.	.	.	.	3.267	-0.149956	0.06585	.	.	ENSG00000213822	ENST00000451626	T	0.08102	3.13	2.51	-5.01	0.02991	.	.	.	.	.	T	0.03178	0.0093	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42120	-0.9470	9	0.87932	D	0	.	1.3422	0.02156	0.2541:0.3772:0.2242:0.1444	.	27	A8MTB9	CEA18_HUMAN	G	27	ENSP00000402203:R27G	ENSP00000402203:R27G	R	+	1	2	CEACAM18	56673604	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.690000	0.05138	-0.948000	0.03668	-2.366000	0.00237	CGA		0.647	CEACAM18-001	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000323114.2		
PRKCG	5582	broad.mit.edu	37	19	54395012	54395012	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:54395012G>A	ENST00000263431.3	+	6	896	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	PRKCG_ENST00000536044.1_Missense_Mutation_p.R205Q|PRKCG_ENST00000540413.1_Missense_Mutation_p.R205Q|PRKCG_ENST00000542049.1_Missense_Mutation_p.R92Q	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	205	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)	p.R205Q(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCAGACCCTCGGAACCTGACG	0.532																																						uc002qcq.1																			1	Substitution - Missense(1)	p.R205Q(1)	large_intestine(1)	large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(613-615)cGg>cAg		Homo sapiens protein kinase C, gamma (PRKCG), mRNA.							144.0	121.0	129.0					19																	54395012		2203	4300	6503	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54395012G>A	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.614G>A	19.37:g.54395012G>A	ENSP00000263431:p.Arg205Gln					PRKCG_uc010eqz.1_Missense_Mutation_p.R205Q|PRKCG_uc010yef.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeg.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeh.1_Missense_Mutation_p.R92Q|Mir_324_uc021vbc.1_5'Flank	p.R205Q	NM_002739	NP_002730	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	5	896	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		205			C2.		B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.614G>A	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	15.70	2.911921	0.52439	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.25	3.08	0.35506	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.22666	0.0547	N	0.25647	0.755	0.30652	N	0.755333	P;B;B;B;B	0.39181	0.663;0.008;0.091;0.01;0.003	B;B;B;B;B	0.19391	0.025;0.003;0.014;0.006;0.003	T	0.17715	-1.0360	9	0.52906	T	0.07	.	7.8663	0.29539	0.2622:0.0:0.7378:0.0	.	92;205;205;205;205	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	Q	205;205;205;92	ENSP00000440541:R205Q;ENSP00000443493:R205Q;ENSP00000263431:R205Q;ENSP00000438090:R92Q	ENSP00000263431:R205Q	R	+	2	0	PRKCG	59086824	1.000000	0.71417	0.998000	0.56505	0.949000	0.60115	5.870000	0.69620	1.364000	0.46038	-0.258000	0.10820	CGG		0.532	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
NLRP2	55655	broad.mit.edu	37	19	55494705	55494705	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:55494705A>T	ENST00000543010.1	+	6	1782	c.1639A>T	c.(1639-1641)Aac>Tac	p.N547Y	NLRP2_ENST00000538819.1_Missense_Mutation_p.N523Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.N524Y|NLRP2_ENST00000263437.6_Missense_Mutation_p.N544Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.N525Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.N525Y|NLRP2_ENST00000391721.4_Missense_Mutation_p.N523Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.N547Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	547					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAGACTCAGGAACCCCGACCT	0.567																																						uc021vbq.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1639-1641)Aac>Tac		Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.							86.0	80.0	82.0					19																	55494705		2203	4300	6503	SO:0001583	missense	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494705A>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1639A>T	19.37:g.55494705A>T	ENSP00000445135:p.Asn547Tyr					NLRP2_uc010yfp.2_Missense_Mutation_p.N524Y|NLRP2_uc002qij.3_Missense_Mutation_p.N547Y|NLRP2_uc010esp.3_Missense_Mutation_p.N525Y|NLRP2_uc010esn.3_Missense_Mutation_p.N523Y|NLRP2_uc010eso.3_Missense_Mutation_p.N544Y	p.N547Y	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	5	1750	+			547					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Missense_Mutation	SNP	ENST00000543010.1	37	c.1639A>T	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	A	13.48	2.249642	0.39797	.	.	ENSG00000022556	ENST00000543010;ENST00000391721;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000538819;ENST00000263437	T;T;T;T;T;T;T;T	0.75367	-0.89;-0.83;-0.83;-0.89;-0.83;-0.93;-0.83;-0.88	1.79	1.79	0.24919	.	0.000000	0.36338	N	0.002652	T	0.79203	0.4406	L	0.60455	1.87	0.26162	N	0.979981	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.984;0.998;0.994;0.998;0.994	T	0.65882	-0.6060	10	0.52906	T	0.07	.	5.6681	0.17707	1.0:0.0:0.0:0.0	.	524;525;544;523;547	B4DZL7;Q9NX02-2;A8K9G6;Q9NX02-4;Q9NX02	.;.;.;.;NALP2_HUMAN	Y	547;523;525;547;525;524;523;544	ENSP00000445135:N547Y;ENSP00000375601:N523Y;ENSP00000344074:N525Y;ENSP00000409370:N547Y;ENSP00000440601:N525Y;ENSP00000402474:N524Y;ENSP00000441133:N523Y;ENSP00000263437:N544Y	ENSP00000263437:N544Y	N	+	1	0	NLRP2	60186517	0.001000	0.12720	0.109000	0.21407	0.058000	0.15608	0.737000	0.26144	1.096000	0.41439	0.459000	0.35465	AAC		0.567	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
KCNK3	3777	broad.mit.edu	37	2	26950700	26950700	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:26950700G>A	ENST00000302909.3	+	2	574	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	150					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CTGGGCATGCGGCGCGCCGAC	0.652																																					GBM(80;1457 1631 27100 45946)	uc002rhn.2																			0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(448-450)cGg>cAg		Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.							71.0	65.0	67.0					2																	26950700		2203	4300	6503	SO:0001583	missense	3777				synaptic transmission	integral to plasma membrane		g.chr2:26950700G>A	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.449G>A	2.37:g.26950700G>A	ENSP00000306275:p.Arg150Gln						p.R150Q	NM_002246	NP_002237	O14649	KCNK3_HUMAN			1	612	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		150					Q53SU2	Missense_Mutation	SNP	ENST00000302909.3	37	c.449G>A	CCDS1727.1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376075	0.61735	.	.	ENSG00000171303	ENST00000538762;ENST00000302909	T	0.23950	1.88	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.29556	0.0737	M	0.68952	2.095	0.45662	D	0.998581	B	0.29188	0.236	B	0.23150	0.044	T	0.04781	-1.0927	10	0.41790	T	0.15	.	16.7393	0.85455	0.0:0.0:1.0:0.0	.	150	O14649	KCNK3_HUMAN	Q	27;150	ENSP00000306275:R150Q	ENSP00000306275:R150Q	R	+	2	0	KCNK3	26804204	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.757000	0.74924	2.619000	0.88677	0.561000	0.74099	CGG		0.652	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	NM_002246	
THADA	63892	broad.mit.edu	37	2	43458375	43458375	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:43458375G>A	ENST00000405006.4	-	38	5925	c.5574C>T	c.(5572-5574)tcC>tcT	p.S1858S	AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000405975.2_Silent_p.S1858S|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Silent_p.S1539S	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1858										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACGCCAGCCGGACTTTGAGA	0.517																																						uc002rsw.4																			0				breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66						c.(5572-5574)tcC>tcT		Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.							37.0	39.0	38.0					2																	43458375		1938	4136	6074	SO:0001819	synonymous_variant	63892						binding	g.chr2:43458375G>A	AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5574C>T	2.37:g.43458375G>A						THADA_uc010far.3_Silent_p.S1053S|THADA_uc002rsx.4_Silent_p.S1858S|THADA_uc002rsy.4_Non-coding_Transcript	p.S1858S	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN			37	5926	-		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)	1858					A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Silent	SNP	ENST00000405006.4	37	c.5574C>T	CCDS46268.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.418654	0.01136	.	.	ENSG00000115970	ENST00000407351	.	.	.	5.08	-9.92	0.00455	.	.	.	.	.	T	0.17662	0.0424	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19582	-1.0301	4	.	.	.	-37.9496	5.3039	0.15793	0.1725:0.0851:0.5568:0.1856	.	.	.	.	L	1098	.	.	P	-	2	0	THADA	43311879	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.494000	0.02296	-1.365000	0.02158	-1.077000	0.02231	CCG		0.517	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326070.3	NM_022065	
CNTNAP5	129684	broad.mit.edu	37	2	125555882	125555882	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:125555882C>A	ENST00000431078.1	+	19	3563	c.3199C>A	c.(3199-3201)Ctg>Atg	p.L1067M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1067	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGTGGTTGTTCTGCTCTGCAA	0.498																																						uc010flu.3																			0		p.L1067L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3202-3204)Ctg>Atg		Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.							105.0	103.0	104.0					2																	125555882		1979	4169	6148	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125555882C>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3199C>A	2.37:g.125555882C>A	ENSP00000399013:p.Leu1067Met					CNTNAP5_uc002tno.3_Missense_Mutation_p.L1067M	p.L1068M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	18	3566	+			1067			Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.3202C>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841227	0.32513	.	.	ENSG00000155052	ENST00000431078	T	0.51574	0.7	5.92	1.95	0.26073	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.429288	0.17463	N	0.173390	T	0.59362	0.2188	M	0.80982	2.52	0.19945	N	0.999945	P	0.47106	0.89	P	0.58820	0.846	T	0.49360	-0.8948	10	0.40728	T	0.16	.	3.8417	0.08917	0.2446:0.5275:0.1088:0.1191	.	1067	Q8WYK1	CNTP5_HUMAN	M	1067	ENSP00000399013:L1067M	ENSP00000399013:L1067M	L	+	1	2	CNTNAP5	125272352	0.281000	0.24258	0.900000	0.35374	0.998000	0.95712	0.793000	0.26944	0.067000	0.16545	0.650000	0.86243	CTG		0.498	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
UBR3	130507	broad.mit.edu	37	2	170850840	170850840	+	Silent	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:170850840G>A	ENST00000272793.5	+	26	3842	c.3792G>A	c.(3790-3792)ggG>ggA	p.G1264G	UBR3_ENST00000418381.1_Silent_p.G1264G|UBR3_ENST00000392631.1_Silent_p.G85G			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1264					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TAGTTTTGGGGCAGTGCCGTG	0.418																																						uc010zdi.2																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						c.(3790-3792)ggG>ggA		Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.							112.0	109.0	110.0					2																	170850840		2203	4300	6503	SO:0001819	synonymous_variant	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170850840G>A	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3792G>A	2.37:g.170850840G>A						UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Silent_p.G85G|UBR3_uc002uft.4_Silent_p.G117G	p.G1264G	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			25	3792	+			1264					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Silent	SNP	ENST00000272793.5	37	c.3792G>A		.	.	.	.	.	.	.	.	.	.	G	9.447	1.089638	0.20390	.	.	ENSG00000144357	ENST00000392632	T	0.39056	1.1	5.01	1.11	0.20524	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.16364	-1.0405	7	0.49607	T	0.09	.	3.3158	0.07032	0.136:0.1165:0.5073:0.2402	.	.	.	.	D	322	ENSP00000376409:G322D	ENSP00000376409:G322D	G	+	2	0	UBR3	170559086	0.999000	0.42202	0.998000	0.56505	0.997000	0.91878	0.466000	0.22019	-0.083000	0.12618	-0.137000	0.14449	GGC		0.418	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
FAM126B	285172	broad.mit.edu	37	2	201853144	201853144	+	Splice_Site	SNP	C	C	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:201853144C>G	ENST00000418596.3	-	11	1019	c.832G>C	c.(832-834)Gtt>Ctt	p.V278L	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	278						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCATTGGCAACCTACAATGAT	0.338																																						uc002uws.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.e11-1		Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.							92.0	94.0	93.0					2																	201853144		2203	4300	6503	SO:0001630	splice_region_variant	285172					intracellular		g.chr2:201853144C>G	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.832-1G>C	2.37:g.201853144C>G						FAM126B_uc002uwu.3_Splice_Site_p.V196_splice|FAM126B_uc002uwv.3_Splice_Site_p.V278_splice	p.V278_splice	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN			11	1020	-			278					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.832_splice	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070253	0.36566	.	.	ENSG00000155744	ENST00000418596	T	0.78246	-1.16	5.68	5.68	0.88126	.	0.146987	0.47093	D	0.000248	T	0.74680	0.3748	L	0.43152	1.355	0.80722	D	1	B;B	0.21821	0.061;0.008	B;B	0.23574	0.047;0.028	T	0.69191	-0.5210	10	0.46703	T	0.11	-13.5389	19.7908	0.96456	0.0:1.0:0.0:0.0	.	84;278	B3KUG1;Q8IXS8	.;F126B_HUMAN	L	278	ENSP00000393667:V278L	ENSP00000393667:V278L	V	-	1	0	FAM126B	201561389	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.309000	0.65774	2.686000	0.91538	0.491000	0.48974	GTT		0.338	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	Missense_Mutation
PLEKHM3	389072	broad.mit.edu	37	2	208841553	208841553	+	Silent	SNP	A	A	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:208841553A>G	ENST00000427836.2	-	3	1857	c.1368T>C	c.(1366-1368)aaT>aaC	p.N456N	PLEKHM3_ENST00000389247.4_Silent_p.N456N|PLEKHM3_ENST00000457206.1_Silent_p.N456N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	456	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTCGCCACATTGGCAGCTA	0.522																																						uc002vcl.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1366-1368)aaT>aaC		Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.							85.0	83.0	83.0					2																	208841553		2004	4190	6194	SO:0001819	synonymous_variant	389072				intracellular signal transduction		metal ion binding	g.chr2:208841553A>G	AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.1368T>C	2.37:g.208841553A>G						PLEKHM3_uc002vcm.2_Silent_p.N456N	p.N456N	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN			2	1858	-			456			PH 2.		B9EKV2|Q8WW68	Silent	SNP	ENST00000427836.2	37	c.1368T>C	CCDS42808.1	.	.	.	.	.	.	.	.	.	.	A	0.606	-0.826926	0.02734	.	.	ENSG00000178385	ENST00000447645	.	.	.	5.82	-5.64	0.02466	.	.	.	.	.	T	0.43567	0.1253	.	.	.	0.26643	N	0.972244	.	.	.	.	.	.	T	0.43686	-0.9376	4	.	.	.	.	16.5715	0.84613	0.4161:0.0:0.5839:0.0	.	.	.	.	R	208	.	.	C	-	1	0	PLEKHM3	208549798	0.000000	0.05858	0.002000	0.10522	0.346000	0.29079	-1.472000	0.02341	-1.103000	0.03019	0.533000	0.62120	TGT		0.522	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337036.1	NM_001080475	
CEBPB	1051	broad.mit.edu	37	20	48807614	48807614	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr20:48807614C>T	ENST00000303004.3	+	1	239	c.44C>T	c.(43-45)cCg>cTg	p.P15L		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	15	Required for Lys-174 sumoylation.				acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cellular response to amino acid stimulus (GO:0071230)|embryonic placenta development (GO:0001892)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary gland epithelial cell differentiation (GO:0060644)|mammary gland epithelial cell proliferation (GO:0033598)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|response to lipopolysaccharide (GO:0032496)|transcription from RNA polymerase II promoter (GO:0006366)	condensed chromosome, centromeric region (GO:0000779)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CTCCCCCTGCCGCCGCCGCCG	0.726																																						uc002xvi.2																			0				NS(1)|lung(1)	2						c.(43-45)cCg>cTg		Homo sapiens CCAAT/enhancer binding protein (C/EBP), beta (CEBPB), mRNA.							6.0	8.0	7.0					20																	48807614		1712	3460	5172	SO:0001583	missense	1051				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr20:48807614C>T	AY193834	CCDS13429.1	20q13.1	2013-01-10			ENSG00000172216	ENSG00000172216		"""basic leucine zipper proteins"""	1834	protein-coding gene	gene with protein product	"""liver-enriched transcriptional activator protein"", ""nuclear factor of interleukin 6"", ""interleukin 6-dependent DNA-binding protein"""	189965		TCF5		1535333, 1840554	Standard	NM_005194		Approved	LAP, CRP2, NFIL6, IL6DBP, C/EBP-beta	uc002xvi.2	P17676	OTTHUMG00000032715	ENST00000303004.3:c.44C>T	20.37:g.48807614C>T	ENSP00000305422:p.Pro15Leu						p.P15L	NM_005194	NP_005185	P17676	CEBPB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)		0	495	+			15			Required for Lys-174 sumoylation.		A8K671|Q96IH2|Q9H4Z5	Missense_Mutation	SNP	ENST00000303004.3	37	c.44C>T	CCDS13429.1	.	.	.	.	.	.	.	.	.	.	C	1.312	-0.601808	0.03744	.	.	ENSG00000172216	ENST00000303004	T	0.37058	1.22	.	.	.	.	0.182268	0.23704	U	0.045385	T	0.24236	0.0587	N	0.14661	0.345	0.40358	D	0.97921	D	0.58620	0.983	P	0.53450	0.726	T	0.17228	-1.0376	8	0.02654	T	1	-11.516	.	.	.	.	15	P17676	CEBPB_HUMAN	L	15	ENSP00000305422:P15L	ENSP00000305422:P15L	P	+	2	0	CEBPB	48241021	0.998000	0.40836	0.996000	0.52242	0.923000	0.55619	0.385000	0.20685	0.119000	0.18210	0.121000	0.15741	CCG		0.726	CEBPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079672.1	NM_005194	
HIRA	7290	broad.mit.edu	37	22	19365576	19365576	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr22:19365576C>T	ENST00000263208.5	-	14	1685	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_ENST00000541063.1_Missense_Mutation_p.A433T|HIRA_ENST00000340170.4_Missense_Mutation_p.A477T|HIRA_ENST00000546308.1_Missense_Mutation_p.A433T	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	477	Interaction with ASF1A.|Interaction with CCNA1.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTAAAGAATGCCGTGGAGAAG	0.488																																						uc002zpf.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1429-1431)Gca>Aca		Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.							80.0	92.0	88.0					22																	19365576		2203	4300	6503	SO:0001583	missense	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19365576C>T	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1429G>A	22.37:g.19365576C>T	ENSP00000263208:p.Ala477Thr					HIRA_uc011agx.1_Missense_Mutation_p.A343T|HIRA_uc010grn.1_Missense_Mutation_p.A477T|HIRA_uc010gro.2_Missense_Mutation_p.A433T|HIRA_uc010grp.3_Non-coding_Transcript	p.A477T	NM_003325	NP_003316	P54198	HIRA_HUMAN			13	1649	-	Colorectal(54;0.0993)		477			Interaction with ASF1A.|Interaction with CCNA1.		Q05BU9|Q8IXN2	Missense_Mutation	SNP	ENST00000263208.5	37	c.1429G>A	CCDS13759.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030001	0.93575	.	.	ENSG00000100084	ENST00000340170;ENST00000263208;ENST00000541063;ENST00000546308	T;T;T;T	0.72282	-0.4;-0.64;-0.48;-0.46	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.75845	0.3905	L	0.29908	0.895	0.80722	D	1	D;D;P	0.67145	0.974;0.996;0.956	P;D;P	0.79784	0.647;0.993;0.549	T	0.69228	-0.5200	10	0.16896	T	0.51	-16.2298	19.1181	0.93350	0.0:1.0:0.0:0.0	.	433;477;477	F5H4M2;P54198-2;P54198	.;.;HIRA_HUMAN	T	477;477;433;433	ENSP00000345350:A477T;ENSP00000263208:A477T;ENSP00000446073:A433T;ENSP00000441870:A433T	ENSP00000263208:A477T	A	-	1	0	HIRA	17745576	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.297000	0.72757	2.756000	0.94617	0.655000	0.94253	GCA		0.488	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325	
TRIOBP	11078	broad.mit.edu	37	22	38119801	38119801	+	Missense_Mutation	SNP	A	A	G	rs71317064		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr22:38119801A>G	ENST00000406386.3	+	7	1493	c.1238A>G	c.(1237-1239)aAa>aGa	p.K413R		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	413					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.K413R(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GACAATCCCAAAGCCTCCAGA	0.582																																						uc003atr.3																			2	Substitution - Missense(2)	p.K413R(2)	NS(1)|lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1237-1239)aAa>aGa		Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.							119.0	123.0	122.0					22																	38119801		1926	4146	6072	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119801A>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1238A>G	22.37:g.38119801A>G	ENSP00000384312:p.Lys413Arg					TRIOBP_uc003atu.3_Missense_Mutation_p.K241R|TRIOBP_uc003atq.1_Missense_Mutation_p.K413R|TRIOBP_uc003ats.1_Missense_Mutation_p.K241R	p.K413R	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			6	1509	+	Melanoma(58;0.0574)		413					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.1238A>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	2.948	-0.217370	0.06101	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.16073	2.37	2.48	-4.11	0.03928	.	.	.	.	.	T	0.05135	0.0137	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	9	0.44086	T	0.13	.	4.7887	0.13238	0.3678:0.1561:0.4761:0.0	.	413	Q9H2D6	TARA_HUMAN	R	413	ENSP00000384312:K413R	ENSP00000384312:K413R	K	+	2	0	TRIOBP	36449747	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.094000	0.11094	-1.251000	0.02494	-1.450000	0.01041	AAA		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
SSUH2	51066	broad.mit.edu	37	3	8661576	8661576	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:8661576C>A	ENST00000317371.4	-	19	2265	c.1040G>T	c.(1039-1041)tGc>tTc	p.C347F	SSUH2_ENST00000544814.1_Missense_Mutation_p.C369F|SSUH2_ENST00000415132.1_3'UTR|SSUH2_ENST00000341795.3_Missense_Mutation_p.C347F			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	347						cytoplasm (GO:0005737)											ACAGCCACAGCAATACCGCTC	0.507																																						uc011atg.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						c.(1105-1107)tGc>tTc		Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.							163.0	132.0	142.0					3																	8661576		2203	4300	6503	SO:0001583	missense	51066							g.chr3:8661576C>A	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.1040G>T	3.37:g.8661576C>A	ENSP00000324551:p.Cys347Phe					C3orf32_uc003bqz.3_Missense_Mutation_p.C347F|C3orf32_uc003bqs.1_Non-coding_Transcript|C3orf32_uc003bqt.3_Missense_Mutation_p.C296F|C3orf32_uc003bqu.3_Missense_Mutation_p.C347F|C3orf32_uc003bqv.3_Missense_Mutation_p.C296F|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.C347F	p.C369F	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN			11	1146	-			347					A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	ENST00000317371.4	37	c.1106G>T	CCDS2568.1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787962	0.49997	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000544814	T;T;T	0.57595	0.42;0.42;0.39	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.70298	0.3208	M	0.70595	2.14	0.41034	D	0.985174	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.74665	-0.3589	10	0.87932	D	0	-15.0897	13.3568	0.60633	0.0:1.0:0.0:0.0	.	369;347	F5H2S5;Q9Y2M2	.;CC032_HUMAN	F	347;347;369	ENSP00000339150:C347F;ENSP00000324551:C347F;ENSP00000439378:C369F	ENSP00000324551:C347F	C	-	2	0	C3orf32	8636576	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	2.767000	0.47637	2.192000	0.70111	0.467000	0.42956	TGC		0.507	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337900.1	NM_015931	
ACKR2	1238	broad.mit.edu	37	3	42905968	42905968	+	5'UTR	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:42905968C>T	ENST00000422265.1	+	0	149				ACKR2_ENST00000442925.1_5'UTR|ACKR2_ENST00000273145.2_5'UTR|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2						chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										CACTACAGGACGTCGGGACTG	0.527																																						uc003cme.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26								Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.							39.0	39.0	39.0					3																	42905968		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1238				chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	g.chr3:42905968C>T	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.-27C>T	3.37:g.42905968C>T						CCBP2_uc003cmf.3_5'UTR|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_5'Flank		NM_001296	NP_001287	O00590	CCBP2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.241)	2		+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Translation_Start_Site	SNP	ENST00000422265.1	37		CCDS2706.1																																																																																				0.527	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296	
PCNP	57092	broad.mit.edu	37	3	101304326	101304326	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:101304326G>A	ENST00000265260.3	+	3	446	c.325G>A	c.(325-327)Gta>Ata	p.V109I	PCNP_ENST00000486406.1_Intron|PCNP_ENST00000296024.5_Missense_Mutation_p.V109I|PCNP_ENST00000469941.1_5'UTR	NM_020357.1	NP_065090.1	Q8WW12	PCNP_HUMAN	PEST proteolytic signal containing nuclear protein	109					cell cycle (GO:0007049)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)				large_intestine(1)|lung(1)	2						AACTCTTTCAGTAGCAGCAGC	0.299																																						uc003dva.3																			0				large_intestine(1)|lung(1)	2						c.(325-327)Gta>Ata		Homo sapiens PEST proteolytic signal containing nuclear protein (PCNP), mRNA.							96.0	95.0	95.0					3																	101304326		2203	4297	6500	SO:0001583	missense	57092				cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding	g.chr3:101304326G>A		CCDS2942.1	3q12.3	2006-03-09			ENSG00000081154	ENSG00000081154			30023	protein-coding gene	gene with protein product		615210				12176013	Standard	NM_020357		Approved		uc003dva.3	Q8WW12	OTTHUMG00000159108	ENST00000265260.3:c.325G>A	3.37:g.101304326G>A	ENSP00000265260:p.Val109Ile					PCNP_uc003dvb.3_Non-coding_Transcript|PCNP_uc003dvc.3_Non-coding_Transcript|PCNP_uc003dvd.3_Missense_Mutation_p.V109I	p.V109I	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN			2	343	+			109					B2RBE7|D3DN52|Q53GF3|Q6AI44|Q96CU3|Q9NS81	Missense_Mutation	SNP	ENST00000265260.3	37	c.325G>A	CCDS2942.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.462975	0.63513	.	.	ENSG00000081154	ENST00000265260;ENST00000296024	.	.	.	5.86	5.86	0.93980	.	0.066310	0.64402	D	0.000009	T	0.69806	0.3152	M	0.69358	2.11	0.45439	D	0.998416	P;P	0.47191	0.891;0.762	P;B	0.47299	0.543;0.445	T	0.69591	-0.5104	9	0.45353	T	0.12	.	20.1858	0.98214	0.0:0.0:1.0:0.0	.	109;109	Q8WW12-2;Q8WW12	.;PCNP_HUMAN	I	109	.	ENSP00000265260:V109I	V	+	1	0	PCNP	102787016	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.358000	0.59442	2.777000	0.95525	0.591000	0.81541	GTA		0.299	PCNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353338.2	NM_020357	
RP11-93K22.13	0	broad.mit.edu	37	3	129811972	129811972	+	lincRNA	SNP	G	G	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:129811972G>C	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							TTGACGGACAGAACCTTCCTT	0.408																																						uc011bld.2																			0											c.(280-282)caG>caC		Homo sapiens asparagine-linked glycosylation 1-like 2 (ALG1L2), mRNA.							81.0	64.0	69.0					3																	129811972		692	1591	2283			644974				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129811972G>C																													3.37:g.129811972G>C						ALG1L2_uc010hth.3_Non-coding_Transcript	p.Q94H	NM_001136152	NP_001129624	C9J202	AG1L2_HUMAN			3	468	+			94						Missense_Mutation	SNP	ENST00000514010.1	37	c.282G>C																																																																																					0.408	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1		
DNAJC19	131118	broad.mit.edu	37	3	180702463	180702463	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:180702463C>T	ENST00000382564.2	-	6	486	c.316G>A	c.(316-318)Gct>Act	p.A106T	DNAJC19_ENST00000479269.1_Missense_Mutation_p.A81T|DNAJC19_ENST00000491873.1_Missense_Mutation_p.A81T|DNAJC19_ENST00000486355.1_3'UTR	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	106	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			AAATCTTTAGCTTCATTGATT	0.284																																						uc003fkt.3																			0				large_intestine(2)|lung(1)	3						c.(316-318)Gct>Act		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							55.0	53.0	54.0					3																	180702463		2199	4289	6488	SO:0001583	missense	131118				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding	g.chr3:180702463C>T		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.316G>A	3.37:g.180702463C>T	ENSP00000372005:p.Ala106Thr					DNAJC19_uc021xhv.1_Missense_Mutation_p.A81T|DNAJC19_uc021xhw.1_Missense_Mutation_p.A81T|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	p.A106T	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)		5	488	-	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		106			J.		B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	37	c.316G>A	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	C	34	5.386885	0.95967	.	.	ENSG00000205981	ENST00000382564;ENST00000491873;ENST00000479269	T;T;T	0.64438	-0.1;-0.1;-0.1	5.97	5.97	0.96955	Heat shock protein DnaJ, N-terminal (5);	0.107611	0.64402	D	0.000002	D	0.88097	0.6345	H	0.98276	4.19	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92004	0.5613	10	0.87932	D	0	-11.0545	18.6193	0.91316	0.0:1.0:0.0:0.0	.	106	Q96DA6	TIM14_HUMAN	T	106;81;81	ENSP00000372005:A106T;ENSP00000420767:A81T;ENSP00000419191:A81T	ENSP00000372005:A106T	A	-	1	0	DNAJC19	182185157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.927000	0.70080	2.836000	0.97738	0.655000	0.94253	GCT		0.284	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261	
DRD5	1816	broad.mit.edu	37	4	9784083	9784083	+	Missense_Mutation	SNP	A	A	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:9784083A>T	ENST00000304374.2	+	1	826	c.430A>T	c.(430-432)Agg>Tgg	p.R144W		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	144					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCCATCTCCAGGCCCTTCCG	0.597																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(430-432)Agg>Tgg		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						38.0	37.0	37.0					4																	9784083		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784083A>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.430A>T	4.37:g.9784083A>T	ENSP00000306129:p.Arg144Trp						p.R144W	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	826	+			144					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.430A>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	a	19.23	3.788204	0.70337	.	.	ENSG00000169676	ENST00000304374	T	0.38887	1.11	4.35	3.13	0.36017	GPCR, rhodopsin-like superfamily (1);	0.238250	0.49305	N	0.000160	T	0.54615	0.1869	L	0.58925	1.835	0.42626	D	0.993366	D	0.65815	0.995	D	0.65684	0.937	T	0.53989	-0.8360	10	0.56958	D	0.05	.	9.4174	0.38530	0.8409:0.0:0.0:0.1591	.	144	P21918	DRD5_HUMAN	W	144	ENSP00000306129:R144W	ENSP00000306129:R144W	R	+	1	2	DRD5	9393181	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.866000	0.75506	0.669000	0.31146	0.254000	0.18369	AGG		0.597	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
SEPSECS	51091	broad.mit.edu	37	4	25127315	25127315	+	Splice_Site	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:25127315C>T	ENST00000382103.2	-	10	1284		c.e10+1		SEPSECS_ENST00000515272.1_5'UTR|SEPSECS_ENST00000302922.3_Splice_Site	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase						selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				AACATACTTACCTGGCTCCAG	0.388																																						uc003grg.3																			0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.e10+1		Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	Pyridoxal Phosphate(DB00114)						50.0	48.0	49.0					4																	25127315		2203	4299	6502	SO:0001630	splice_region_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25127315C>T	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.1211+1G>A	4.37:g.25127315C>T						SEPSECS_uc003gri.3_Splice_Site_p.R403_splice|SEPSECS_uc003grh.3_Splice_Site_p.R325_splice	p.R404_splice	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN			10	1424	-		Breast(46;0.173)	404					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Splice_Site	SNP	ENST00000382103.2	37	c.1211_splice	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106968	0.77096	.	.	ENSG00000109618	ENST00000302922;ENST00000382103	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEPSECS	24736413	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	6.911000	0.75746	2.421000	0.82119	0.557000	0.71058	.		0.388	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955	Intron
CCKAR	886	broad.mit.edu	37	4	26491828	26491828	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:26491828C>A	ENST00000295589.3	-	1	256	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	21					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATTTTCGAGCCCGAGTTCACA	0.493																																						uc003gse.1																			0		p.L20L(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29						c.(61-63)gGg>gTg		Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	Ceruletide(DB00403)						121.0	101.0	108.0					4																	26491828		2203	4300	6503	SO:0001583	missense	886				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	g.chr4:26491828C>A	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.62G>T	4.37:g.26491828C>A	ENSP00000295589:p.Gly21Val						p.G21V	NM_000730	NP_000721	P32238	CCKAR_HUMAN			0	215	-		Breast(46;0.0503)	21					B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	c.62G>T	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441579	0.25900	.	.	ENSG00000163394	ENST00000295589	T	0.51817	0.69	5.27	4.41	0.53225	Cholecystokinin A receptor, N-terminal (2);	0.388616	0.22009	N	0.065896	T	0.47097	0.1427	M	0.71581	2.175	0.21527	N	0.999656	B	0.27882	0.192	B	0.30716	0.119	T	0.37686	-0.9695	10	0.28530	T	0.3	.	11.1877	0.48666	0.3549:0.6451:0.0:0.0	.	21	P32238	CCKAR_HUMAN	V	21	ENSP00000295589:G21V	ENSP00000295589:G21V	G	-	2	0	CCKAR	26100926	0.005000	0.15991	0.071000	0.20095	0.990000	0.78478	1.633000	0.37113	1.190000	0.43042	0.655000	0.94253	GGG		0.493	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2		
RBM47	54502	broad.mit.edu	37	4	40440439	40440439	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:40440439T>C	ENST00000381793.2	-	3	868	c.472A>G	c.(472-474)Atc>Gtc	p.I158V	RBM47_ENST00000319592.4_Missense_Mutation_p.I158V|RBM47_ENST00000295971.7_Missense_Mutation_p.I158V|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.I158V|RBM47_ENST00000514014.1_Missense_Mutation_p.I120V			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	158	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATCTTGGGGATCCCGCCGATG	0.637																																						uc003gvc.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(472-474)Atc>Gtc		Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.							45.0	42.0	43.0					4																	40440439		2199	4291	6490	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440439T>C	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.472A>G	4.37:g.40440439T>C	ENSP00000371212:p.Ile158Val					RBM47_uc003gvd.2_Missense_Mutation_p.I158V|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.I120V|RBM47_uc003gvg.1_Missense_Mutation_p.I158V	p.I158V	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			3	1182	-			158			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.472A>G	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543485	0.45280	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473;ENST00000505414	T;T;T;T;T;T;T;T	0.27720	2.38;2.38;2.38;2.38;2.38;2.38;1.81;1.65	5.47	4.26	0.50523	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.47691	0.1459	L	0.41079	1.255	0.80722	D	1	P;B	0.37370	0.592;0.048	D;P	0.65233	0.933;0.456	T	0.41342	-0.9514	10	0.51188	T	0.08	-20.4398	12.5823	0.56397	0.0:0.0:0.139:0.861	.	158;158	A0AV96-2;A0AV96	.;RBM47_HUMAN	V	158;158;158;158;120;158;158;158	ENSP00000320108:I158V;ENSP00000371212:I158V;ENSP00000371214:I158V;ENSP00000295971:I158V;ENSP00000423243:I120V;ENSP00000422564:I158V;ENSP00000421589:I158V;ENSP00000423527:I158V	ENSP00000295971:I158V	I	-	1	0	RBM47	40135196	1.000000	0.71417	0.998000	0.56505	0.549000	0.35272	6.186000	0.72026	0.885000	0.36088	0.260000	0.18958	ATC		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
SRD5A1	6715	broad.mit.edu	37	5	6662995	6662995	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:6662995C>T	ENST00000274192.5	+	4	863	c.629C>T	c.(628-630)gCc>gTc	p.A210V	SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A163V	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	210					androgen biosynthetic process (GO:0006702)|cell differentiation (GO:0030154)|sex determination (GO:0007530)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|electron carrier activity (GO:0009055)			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)|Levonorgestrel(DB00367)|Spironolactone(DB00421)	TGTGGCTATGCCCTGGCCAGC	0.423																																						uc003jdw.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(628-630)gCc>gTc		Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	Dutasteride(DB01126)|Finasteride(DB01216)						136.0	128.0	131.0					5																	6662995		2203	4300	6503	SO:0001583	missense	6715				androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity	g.chr5:6662995C>T	M32313	CCDS3870.1	5p15.31	2008-02-05			ENSG00000145545	ENSG00000145545	1.3.99.5		11284	protein-coding gene	gene with protein product		184753				1686016	Standard	XR_427663		Approved		uc003jdw.3	P18405	OTTHUMG00000090456	ENST00000274192.5:c.629C>T	5.37:g.6662995C>T	ENSP00000274192:p.Ala210Val					SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Missense_Mutation_p.A163V	p.A210V	NM_001047	NP_001038	P18405	S5A1_HUMAN			3	819	+			210					B2R7Q1|Q9UHY4|Q9UP36|Q9UP37	Missense_Mutation	SNP	ENST00000274192.5	37	c.629C>T	CCDS3870.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762947	0.49574	.	.	ENSG00000145545	ENST00000274192;ENST00000538824	T;T	0.36157	1.27;1.27	4.66	2.83	0.33086	3-oxo-5-alpha-steroid 4-dehydrogenase, C-terminal (2);	0.107759	0.64402	D	0.000006	T	0.58807	0.2148	M	0.82823	2.61	0.80722	D	1	D;P	0.58268	0.982;0.736	P;P	0.61201	0.885;0.641	T	0.65619	-0.6124	10	0.87932	D	0	-3.0288	13.988	0.64348	0.0:0.684:0.316:0.0	.	163;210	F5GXK9;P18405	.;S5A1_HUMAN	V	210;163	ENSP00000274192:A210V;ENSP00000440186:A163V	ENSP00000274192:A210V	A	+	2	0	SRD5A1	6715995	0.998000	0.40836	0.177000	0.23020	0.027000	0.11550	3.905000	0.56333	0.466000	0.27193	0.655000	0.94253	GCC		0.423	SRD5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206903.1	NM_001047	
ZNF622	90441	broad.mit.edu	37	5	16453250	16453250	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:16453250T>A	ENST00000308683.2	-	5	1304	c.1178A>T	c.(1177-1179)cAt>cTt	p.H393L		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	393					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of kinase activity (GO:0033674)|positive regulation of MAPK cascade (GO:0043410)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAAGGAGCGATGACCCACTCT	0.463																																						uc003jfq.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(1177-1179)cAt>cTt		Homo sapiens zinc finger protein 622 (ZNF622), mRNA.							101.0	101.0	101.0					5																	16453250		2203	4300	6503	SO:0001583	missense	90441					cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr5:16453250T>A	AY046059	CCDS3886.1	5p15.1	2012-10-05			ENSG00000173545	ENSG00000173545			30958	protein-coding gene	gene with protein product		608694				11802789, 12645566	Standard	NM_033414		Approved	MGC2485, MGC17552, ZPR9	uc003jfq.3	Q969S3	OTTHUMG00000090567	ENST00000308683.2:c.1178A>T	5.37:g.16453250T>A	ENSP00000310042:p.His393Leu						p.H393L	NM_033414	NP_219482	Q969S3	ZN622_HUMAN			4	1298	-			393						Missense_Mutation	SNP	ENST00000308683.2	37	c.1178A>T	CCDS3886.1	.	.	.	.	.	.	.	.	.	.	T	29.3	4.996070	0.93167	.	.	ENSG00000173545	ENST00000308683	.	.	.	5.7	5.7	0.88788	.	0.097634	0.64402	D	0.000001	T	0.73305	0.3570	H	0.94847	3.59	0.80722	D	1	P	0.45902	0.868	B	0.39876	0.312	T	0.82579	-0.0387	9	0.87932	D	0	-12.7271	15.9541	0.79871	0.0:0.0:0.0:1.0	.	393	Q969S3	ZN622_HUMAN	L	393	.	ENSP00000310042:H393L	H	-	2	0	ZNF622	16506250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.503000	0.81632	2.163000	0.67991	0.533000	0.62120	CAT		0.463	ZNF622-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207105.1	NM_033414	
NPR3	4883	broad.mit.edu	37	5	32739137	32739137	+	Splice_Site	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:32739137G>A	ENST00000265074.8	+	3	1402		c.e3+1		NPR3_ENST00000415167.2_Splice_Site|NPR3_ENST00000415685.2_Splice_Site|NPR3_ENST00000434067.2_Splice_Site	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)	p.?(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGAGGATTACGTAAGTGCCTG	0.408																																						uc003jhv.3																			1	Unknown(1)	p.?(1)	autonomic_ganglia(1)	autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24						c.e3+1		Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	Nesiritide(DB04899)						102.0	100.0	101.0					5																	32739137		1894	4107	6001	SO:0001630	splice_region_variant	4883				osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	g.chr5:32739137G>A		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.1059+1G>A	5.37:g.32739137G>A						NPR3_uc010iuo.3_Splice_Site_p.Y137_splice|NPR3_uc003jhw.2_Splice_Site_p.Y137_splice|NPR3_uc003jhu.3_Splice_Site_p.Y353_splice	p.Y353_splice	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN			3	1504	+			353					A2RRD1|B4DT84|E7EPG9	Splice_Site	SNP	ENST00000265074.8	37	c.1059_splice	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598637	0.66332	.	.	ENSG00000113389	ENST00000509104;ENST00000434067;ENST00000415685;ENST00000265074;ENST00000415167	.	.	.	5.88	5.88	0.94601	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2405	0.98372	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPR3	32774894	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	7.817000	0.86213	2.797000	0.96272	0.561000	0.74099	.		0.408	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908	Intron
PIK3R1	5295	broad.mit.edu	37	5	67591096	67591098	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:67591096_67591098delGAA	ENST00000521381.1	+	13	2305_2307	c.1689_1691delGAA	c.(1687-1692)atgaac>atc	p.563_564MN>I	PIK3R1_ENST00000396611.1_In_Frame_Del_p.563_564MN>I|PIK3R1_ENST00000521657.1_In_Frame_Del_p.563_564MN>I|PIK3R1_ENST00000523872.1_In_Frame_Del_p.200_201MN>I|PIK3R1_ENST00000274335.5_In_Frame_Del_p.563_564MN>I|PIK3R1_ENST00000336483.5_In_Frame_Del_p.293_294MN>I|PIK3R1_ENST00000320694.8_In_Frame_Del_p.263_264MN>I	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	563					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	ACAAACGTATGAACAGCATTAAA	0.374			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.3				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		7	Substitution - Missense(4)|Whole gene deletion(1)|Deletion - In frame(1)|Unknown(1)	p.N564D(8)|p.D560_S565del(2)|p.N564K(2)|p.R562_M563ins13(1)|p.0?(1)|p.?(1)|p.N564fs*?(1)	large_intestine(3)|central_nervous_system(2)|lung(1)|endometrium(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1687-1692)atgaac>atc		Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591096_67591098delGAA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1689_1691delGAA	5.37:g.67591096_67591098delGAA	ENSP00000428056:p.Met563_Asn564delinsIle	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvc.3_In_Frame_Del_p.263_264MN>I|PIK3R1_uc003jvd.3_In_Frame_Del_p.293_294MN>I|PIK3R1_uc003jve.3_In_Frame_Del_p.242_243MN>I|PIK3R1_uc021xzn.1_In_Frame_Del_p.200_201MN>I|PIK3R1_uc011crb.2_In_Frame_Del_p.233_234MN>I	p.563_564MN>I	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	12	2269_2271	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	563					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1689_1691delGAA	CCDS3993.1																																																																																				0.374	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
SH3RF2	153769	broad.mit.edu	37	5	145393623	145393623	+	Splice_Site	SNP	A	A	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:145393623A>T	ENST00000511217.1	+	4	1110	c.1058A>T	c.(1057-1059)cAg>cTg	p.Q353L	SH3RF2_ENST00000359120.4_Splice_Site_p.Q353L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	353					negative regulation of phosphatase activity (GO:0010923)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGTGGGACAGGTAGGGAAG	0.512																																						uc003lnt.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22						c.e5+1		Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.							70.0	68.0	69.0					5																	145393623		2203	4300	6503	SO:0001630	splice_region_variant	153769						ligase activity|protein phosphatase 1 binding|zinc ion binding	g.chr5:145393623A>T	AL833297	CCDS4280.1	5q32	2013-01-09	2011-11-04	2011-11-04	ENSG00000156463	ENSG00000156463		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26299	protein-coding gene	gene with protein product	"""heart protein phosphatase 1-binding protein"", ""POSH-eliminating RING protein"""	613377	"""protein phosphatase 1, regulatory subunit 39"""	PPP1R39		22128169	Standard	NM_152550		Approved	FLJ23654, RNF158, Hepp1, POSHER	uc003lnt.3	Q8TEC5	OTTHUMG00000129685	ENST00000511217.1:c.1059+1A>T	5.37:g.145393623A>T						SH3RF2_uc011dbl.1_Splice_Site_p.Q353_splice	p.Q353_splice	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		5	1297	+			353					A8K961|Q08AM9|Q6GMR9|Q8N5S8|Q96LP8	Missense_Mutation	SNP	ENST00000511217.1	37	c.1059_splice	CCDS4280.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.345544	0.61073	.	.	ENSG00000156463	ENST00000359120;ENST00000511217	T;T	0.21932	1.98;1.98	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.34513	0.0900	L	0.29908	0.895	0.54753	D	0.999987	D	0.76494	0.999	D	0.78314	0.991	T	0.08576	-1.0715	10	0.59425	D	0.04	-16.6999	14.5846	0.68315	1.0:0.0:0.0:0.0	.	353	Q8TEC5	SH3R2_HUMAN	L	353	ENSP00000352028:Q353L;ENSP00000424497:Q353L	ENSP00000352028:Q353L	Q	+	2	0	SH3RF2	145373816	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	4.878000	0.63093	2.181000	0.69327	0.477000	0.44152	CAG		0.512	SH3RF2-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372804.1	NM_152550	Missense_Mutation
DCTN4	51164	broad.mit.edu	37	5	150133220	150133220	+	Splice_Site	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:150133220C>A	ENST00000447998.2	-	3	322		c.e3-1		DCTN4_ENST00000521093.1_Splice_Site|DCTN4_ENST00000424236.1_Splice_Site|DCTN4_ENST00000446090.2_Splice_Site	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGCACATCTGTGACATGA	0.438																																						uc010jhi.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.e3-1		Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.							100.0	92.0	95.0					5																	150133220		2203	4300	6503	SO:0001630	splice_region_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150133220C>A	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.207-1G>T	5.37:g.150133220C>A						DCTN4_uc003lsu.3_Splice_Site_p.R12_splice|DCTN4_uc003lsv.3_Splice_Site_p.R69_splice|DCTN4_uc010jhj.2_Splice_Site|DCTN4_uc011dck.1_Splice_Site_p.R12_splice	p.R69_splice	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	309	-		Medulloblastoma(196;0.167)	69					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Splice_Site	SNP	ENST00000447998.2	37	c.207_splice	CCDS4310.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544773	0.86022	.	.	ENSG00000132912	ENST00000447998;ENST00000424236;ENST00000446090;ENST00000518015;ENST00000521533	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCTN4	150113413	1.000000	0.71417	0.992000	0.48379	0.884000	0.51177	7.734000	0.84928	2.941000	0.99782	0.655000	0.94253	.		0.438	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1		Intron
PBX2	5089	broad.mit.edu	37	6	32156280	32156280	+	Splice_Site	SNP	G	G	T	rs568374645	byFrequency	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:32156280G>T	ENST00000375050.4	-	3	567	c.297C>A	c.(295-297)ggC>ggA	p.G99G	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	99					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.G99G(1)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GAATGCTGAGGCCTAGCATGC	0.612													G|||	24	0.00479233	0.0045	0.0029	5008	,	,		16536	0.002		0.006	False		,,,				2504	0.0082					uc003oav.1																			1	Substitution - coding silent(1)	p.G99G(1)	prostate(1)	endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.e3-1		Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.							20.0	22.0	21.0					6																	32156280		2203	4298	6501	SO:0001630	splice_region_variant	5089						transcription factor binding	g.chr6:32156280G>T		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.296-1C>A	6.37:g.32156280G>T						PBX2_uc003oaw.3_Splice_Site_p.G99_splice	p.G99_splice	NM_002586	NP_002577	P40425	PBX2_HUMAN			3	567	-			99					A2BFJ2	Silent	SNP	ENST00000375050.4	37	c.296_splice	CCDS4748.1																																																																																				0.612	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4		Silent
ZFAND3	60685	broad.mit.edu	37	6	38084429	38084429	+	Missense_Mutation	SNP	G	G	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:38084429G>C	ENST00000287218.4	+	5	890	c.443G>C	c.(442-444)cGa>cCa	p.R148P	ZFAND3_ENST00000373391.2_Missense_Mutation_p.R126P	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	148							DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GAAACCAGTCGATCTAAACAG	0.507																																						uc003onx.3																			0				endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						c.(442-444)cGa>cCa		Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.							130.0	111.0	117.0					6																	38084429		2203	4300	6503	SO:0001583	missense	60685						DNA binding|zinc ion binding	g.chr6:38084429G>C	AK023284	CCDS4836.1	6p21.2	2013-09-19	2005-12-15	2005-12-15	ENSG00000156639	ENSG00000156639		"""Zinc fingers, AN1-type domain containing"""	18019	protein-coding gene	gene with protein product		607455	"""testis expressed sequence 27"""	TEX27			Standard	NM_021943		Approved	FLJ13222	uc003onx.3	Q9H8U3	OTTHUMG00000014629	ENST00000287218.4:c.443G>C	6.37:g.38084429G>C	ENSP00000287218:p.Arg148Pro						p.R148P	NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN			4	858	+			148					Q5SZZ0|Q5SZZ1	Missense_Mutation	SNP	ENST00000287218.4	37	c.443G>C	CCDS4836.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683957	0.47991	.	.	ENSG00000156639	ENST00000287218;ENST00000373391;ENST00000474522	T	0.52983	0.64	5.28	5.28	0.74379	Zinc finger, AN1-type (1);	0.377430	0.28436	N	0.015353	T	0.22898	0.0553	N	0.24115	0.695	0.50467	D	0.999876	P	0.46395	0.877	B	0.37304	0.246	T	0.03193	-1.1062	10	0.32370	T	0.25	-4.5419	19.2682	0.93998	0.0:0.0:1.0:0.0	.	148	Q9H8U3	ZFAN3_HUMAN	P	148;126;179	ENSP00000420240:R179P	ENSP00000287218:R148P	R	+	2	0	ZFAND3	38192407	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.192000	0.72069	2.615000	0.88500	0.650000	0.86243	CGA		0.507	ZFAND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040424.3	NM_021943	
CAPN11	11131	broad.mit.edu	37	6	44147870	44147870	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:44147870G>A	ENST00000398776.1	+	14	1648	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CAPN11_ENST00000542245.1_Missense_Mutation_p.R537Q	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	537	Domain III.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCTGCTTCGGGTCTTCACC	0.577																																						uc003owt.1																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36						c.(1609-1611)cGg>cAg		Homo sapiens calpain 11 (CAPN11), mRNA.							30.0	31.0	31.0					6																	44147870		2067	4224	6291	SO:0001583	missense	11131				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr6:44147870G>A	AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.1610G>A	6.37:g.44147870G>A	ENSP00000381758:p.Arg537Gln					CAPN11_uc011dvn.2_Missense_Mutation_p.R191Q	p.R537Q	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		13	1648	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		537			Domain III.		B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	c.1610G>A	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.338260	0.81911	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.90069	-2.61;-2.61	4.97	4.97	0.65823	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.000000	0.42821	D	0.000650	D	0.96056	0.8715	H	0.95712	3.71	0.48288	D	0.999628	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97005	0.9732	10	0.87932	D	0	.	17.3983	0.87452	0.0:0.0:1.0:0.0	.	191;537	B4DT90;Q9UMQ6	.;CAN11_HUMAN	Q	537	ENSP00000381758:R537Q;ENSP00000441078:R537Q	ENSP00000381758:R537Q	R	+	2	0	CAPN11	44255848	1.000000	0.71417	0.845000	0.33349	0.212000	0.24457	7.792000	0.85828	2.605000	0.88082	0.609000	0.83330	CGG		0.577	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3		
BCLAF1	9774	broad.mit.edu	37	6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A	rs201790829		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:136599814G>A	ENST00000531224.1	-	4	457	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.R67*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.R69*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.R69*	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	69					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.(205-207)Cga>Tga		Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.																																				SO:0001587	stop_gained	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599814G>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.205C>T	6.37:g.136599814G>A	ENSP00000435210:p.Arg69*					BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R67*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R67*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R69*	p.R69*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	3	458	-	Colorectal(23;0.24)		69					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Nonsense_Mutation	SNP	ENST00000531224.1	37	c.205C>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.201669	0.79015	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	.	.	.	5.64	3.59	0.41128	.	0.000000	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5909	16.2474	0.82450	0.0:0.0:0.7701:0.2299	.	.	.	.	X	69;67;69;69;67;67;69	.	ENSP00000229446:R67X	R	-	1	2	BCLAF1	136641507	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.151000	0.58105	1.318000	0.45170	0.557000	0.71058	CGA		0.433	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179.0	143.0	155.0					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
RNF133	168433	broad.mit.edu	37	7	122338474	122338474	+	Missense_Mutation	SNP	T	T	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:122338474T>G	ENST00000340112.2	-	1	736	c.499A>C	c.(499-501)Att>Ctt	p.I167L	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	167	PA.				protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCCTTCTTAATTAAATGGAAA	0.423																																					Colon(198;1778 2057 7449 19869 45985)	uc003vkj.1																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(499-501)Att>Ctt		Homo sapiens ring finger protein 133 (RNF133), mRNA.							116.0	111.0	113.0					7																	122338474		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338474T>G	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.499A>C	7.37:g.122338474T>G	ENSP00000344489:p.Ile167Leu					CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	p.I167L	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN			0	735	-			167			PA.		A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.499A>C	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	T	6.131	0.392348	0.11638	.	.	ENSG00000188050	ENST00000340112	T	0.13196	2.61	5.62	5.62	0.85841	.	0.216575	0.33235	U	0.005139	T	0.15478	0.0373	L	0.38838	1.175	0.80722	D	1	B	0.25206	0.12	B	0.38225	0.268	T	0.06285	-1.0835	10	0.08599	T	0.76	.	15.4998	0.75687	0.0:0.0:0.0:1.0	.	167	Q8WVZ7	RN133_HUMAN	L	167	ENSP00000344489:I167L	ENSP00000344489:I167L	I	-	1	0	RNF133	122125710	0.965000	0.33210	0.994000	0.49952	0.258000	0.26162	1.464000	0.35288	2.137000	0.66172	0.459000	0.35465	ATT		0.423	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175	
SMARCD3	6604	broad.mit.edu	37	7	150945617	150945617	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:150945617C>T	ENST00000262188.8	-	1	442	c.32G>A	c.(31-33)cGc>cAc	p.R11H	SMARCD3_ENST00000477169.1_Intron|SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000356800.2_Intron|RP5-1070G24.2_ENST00000466775.1_RNA	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	11					cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGGCTTTGCGCGCCCCTCC	0.582																																						uc003wjs.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15						c.(31-33)cGc>cAc		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.							79.0	76.0	77.0					7																	150945617		2203	4300	6503	SO:0001583	missense	6604				cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding	g.chr7:150945617C>T	U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.32G>A	7.37:g.150945617C>T	ENSP00000262188:p.Arg11His					SMARCD3_uc003wjt.3_Intron|SMARCD3_uc003wju.3_Intron|SMARCD3_uc011kvh.1_Missense_Mutation_p.R11H|SMARCD3_uc010lqa.1_Missense_Mutation_p.R11H	p.R11H	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	0	133	-			11					D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	ENST00000262188.8	37	c.32G>A	CCDS34780.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519121	0.85495	.	.	ENSG00000082014	ENST00000262188	T	0.51574	0.7	3.5	3.5	0.40072	.	0.102222	0.35013	U	0.003519	T	0.61211	0.2329	L	0.59436	1.845	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.968	D;D;B	0.73380	0.964;0.98;0.375	T	0.64347	-0.6429	10	0.72032	D	0.01	-0.7532	10.8565	0.46802	0.0:1.0:0.0:0.0	.	11;11;11	B7Z4U8;B7ZA58;Q6STE5	.;.;SMRD3_HUMAN	H	11	ENSP00000262188:R11H	ENSP00000262188:R11H	R	-	2	0	SMARCD3	150576550	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.095000	0.71439	1.656000	0.50722	0.486000	0.48141	CGC		0.582	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348825.1	NM_001003801	
DEFA4	1669	broad.mit.edu	37	8	6794410	6794410	+	Silent	SNP	G	G	A	rs61749084		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:6794410G>A	ENST00000297435.2	-	2	136	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	4					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)		p.I4I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622																																						uc003wqu.1																			1	Substitution - coding silent(1)	p.I4I(2)	skin(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10						c.(10-12)atC>atT		Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.							38.0	35.0	36.0					8																	6794410		2203	4300	6503	SO:0001819	synonymous_variant	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794410G>A	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.12C>T	8.37:g.6794410G>A							p.I4I	NM_001925	NP_001916	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	1	63	-			4					Q6EZF8	Silent	SNP	ENST00000297435.2	37	c.12C>T	CCDS5961.1																																																																																				0.622	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925	
NKX3-1	4824	broad.mit.edu	37	8	23538761	23538761	+	Silent	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:23538761C>T	ENST00000380871.4	-	2	715	c.678G>A	c.(676-678)gtG>gtA	p.V226V	NKX3-1_ENST00000523261.1_Silent_p.V151V	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	226					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|androgen receptor signaling pathway (GO:0030521)|branching involved in prostate gland morphogenesis (GO:0060442)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to steroid hormone stimulus (GO:0071383)|cellular response to tumor necrosis factor (GO:0071356)|dorsal aorta development (GO:0035907)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|heart development (GO:0007507)|male gonad development (GO:0008584)|metanephros development (GO:0001656)|mitotic cell cycle arrest (GO:0071850)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of transcription, DNA-templated (GO:0045892)|pharyngeal system development (GO:0060037)|positive regulation of androgen secretion (GO:2000836)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell death (GO:0010942)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of gene expression (GO:0010628)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein kinase B signaling (GO:0043491)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|salivary gland development (GO:0007431)|somitogenesis (GO:0001756)|steroid hormone mediated signaling pathway (GO:0043401)	intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|core promoter binding (GO:0001047)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|histone deacetylase binding (GO:0042826)|protein kinase activator activity (GO:0030295)|protein self-association (GO:0043621)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCAGCTGCCCACGCAGTACA	0.542																																						uc011kzx.2																			0				large_intestine(3)|lung(4)|prostate(5)|skin(2)	14						c.(676-678)gtG>gtA		Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.							52.0	54.0	53.0					8																	23538761		2203	4300	6503	SO:0001819	synonymous_variant	4824				negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	g.chr8:23538761C>T		CCDS6042.1, CCDS59095.1	8p21.2	2012-03-09	2007-07-09	2002-10-04	ENSG00000167034	ENSG00000167034		"""Homeoboxes / ANTP class : NKL subclass"""	7838	protein-coding gene	gene with protein product		602041	"""NK homeobox (Drosophila), family 3, A"", ""NK3 transcription factor related, locus 1 (Drosophila)"""	NKX3A		9226374	Standard	NM_006167		Approved	NKX3.1, BAPX2	uc011kzx.2	Q99801	OTTHUMG00000097851	ENST00000380871.4:c.678G>A	8.37:g.23538761C>T						NKX3-1_uc003xdv.1_Intron	p.V226V	NM_006167	NP_006158	Q99801	NKX31_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)	1	726	-		Prostate(55;0.114)	226					O15465|Q9H2P4|Q9H2P5|Q9H2P6|Q9H2P7|Q9HBG0	Silent	SNP	ENST00000380871.4	37	c.678G>A	CCDS6042.1																																																																																				0.542	NKX3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215141.2		
PREX2	80243	broad.mit.edu	37	8	68989642	68989642	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:68989642G>A	ENST00000288368.4	+	15	1857	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	527	DEP 2. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAGATTGCCGCACCAGAGAA	0.438																																						uc003xxv.1																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(1579-1581)cGc>cAc		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.							165.0	147.0	153.0					8																	68989642		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68989642G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1580G>A	8.37:g.68989642G>A	ENSP00000288368:p.Arg527His					PREX2_uc003xxu.1_Missense_Mutation_p.R527H|PREX2_uc011lez.1_Missense_Mutation_p.R462H	p.R527H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			14	1607	+			527			DEP 2.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.1580G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478193	0.84747	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.22743	1.94	5.58	5.58	0.84498	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.114168	0.64402	D	0.000017	T	0.30978	0.0782	N	0.16368	0.405	0.53688	D	0.999977	D;D;D	0.71674	0.998;0.997;0.993	P;P;P	0.61328	0.887;0.879;0.808	T	0.10706	-1.0618	10	0.72032	D	0.01	.	19.9198	0.97084	0.0:0.0:1.0:0.0	.	527;527;527	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	H	527	ENSP00000288368:R527H	ENSP00000288368:R527H	R	+	2	0	PREX2	69152196	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.871000	0.63042	2.787000	0.95880	0.585000	0.79938	CGC		0.438	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
WDYHV1	55093	broad.mit.edu	37	8	124442261	124442261	+	Silent	SNP	A	A	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:124442261A>G	ENST00000287387.2	+	3	347	c.222A>G	c.(220-222)ggA>ggG	p.G74G	WDYHV1_ENST00000518125.1_5'UTR|WDYHV1_ENST00000523356.1_Silent_p.G74G|WDYHV1_ENST00000523984.1_Silent_p.G14G|WDYHV1_ENST00000517609.1_3'UTR	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	74					cellular protein modification process (GO:0006464)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein-N-terminal glutamine amidohydrolase activity (GO:0070773)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CTGGAGATGGACCTGTGATCT	0.378																																						uc003yqn.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						c.(220-222)ggA>ggG		Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.							121.0	122.0	122.0					8																	124442261		2203	4300	6503	SO:0001819	synonymous_variant	55093				protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	g.chr8:124442261A>G	AK001066	CCDS6344.1, CCDS64965.1	8q24.13	2008-10-01	2008-10-01	2008-10-01		ENSG00000156795			25490	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 32"""	C8orf32		12477932	Standard	NM_018024		Approved	FLJ10204	uc003yqn.1	Q96HA8		ENST00000287387.2:c.222A>G	8.37:g.124442261A>G						WDYHV1_uc011lij.1_Silent_p.G14G	p.G74G	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN			2	347	+			74					B4DE68|Q9NW95	Silent	SNP	ENST00000287387.2	37	c.222A>G	CCDS6344.1																																																																																				0.378	WDYHV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381772.1	NM_018024	
LRRC24	441381	broad.mit.edu	37	8	145748578	145748578	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:145748578C>G	ENST00000529415.2	-	5	940	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	LRRC14_ENST00000528528.1_3'UTR|LRRC14_ENST00000292524.1_3'UTR|LRRC24_ENST00000533758.1_Missense_Mutation_p.E272Q			Q50LG9	LRC24_HUMAN	leucine rich repeat containing 24	275	Ig-like C2-type.					integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCAGGTCCTCACCCAGGTTG	0.682																																						uc003zdm.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(1)	5						c.(823-825)Gag>Cag		Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.							16.0	16.0	16.0					8																	145748578		2184	4287	6471	SO:0001583	missense	441381					integral to membrane		g.chr8:145748578C>G	AB178281	CCDS34969.1	8q24.3	2013-01-11			ENSG00000254402	ENSG00000254402		"""Immunoglobulin superfamily / I-set domain containing"""	28947	protein-coding gene	gene with protein product						7584026	Standard	NM_001024678		Approved	LRRC14OS	uc003zdm.3	Q50LG9	OTTHUMG00000165180	ENST00000529415.2:c.823G>C	8.37:g.145748578C>G	ENSP00000434849:p.Glu275Gln					LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	p.E275Q	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		4	955	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		275			Ig-like C2-type.			Missense_Mutation	SNP	ENST00000529415.2	37	c.823G>C	CCDS34969.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.500073	0.85176	.	.	ENSG00000254402	ENST00000529415;ENST00000533758	D;D	0.82619	-1.63;-1.63	4.73	4.73	0.59995	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.167863	0.51477	N	0.000093	D	0.86426	0.5930	L	0.44542	1.39	0.58432	D	0.999999	D;D	0.76494	0.996;0.999	P;D	0.68943	0.9;0.961	D	0.84146	0.0420	10	0.28530	T	0.3	.	15.2365	0.73436	0.0:1.0:0.0:0.0	.	272;275	G3V1D8;Q50LG9	.;LRC24_HUMAN	Q	275;272	ENSP00000434849:E275Q;ENSP00000435653:E272Q	ENSP00000434849:E275Q	E	-	1	0	LRRC24	145719386	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.790000	0.75115	2.462000	0.83206	0.561000	0.74099	GAG		0.682	LRRC24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382501.2	NM_001024678	
KIAA1045	23349	broad.mit.edu	37	9	34971449	34971449	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:34971449G>A	ENST00000242315.3	+	2	236	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	KIAA1045_ENST00000544237.1_Missense_Mutation_p.V52I|KIAA1045_ENST00000476115.2_Intron	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	52							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGAGGGCTCCGTCCAGGAGGT	0.647																																						uc003zvq.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(154-156)Gtc>Atc		Homo sapiens KIAA1045 (KIAA1045), mRNA.							55.0	65.0	62.0					9																	34971449		2060	4195	6255	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971449G>A	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.154G>A	9.37:g.34971449G>A	ENSP00000242315:p.Val52Ile					KIAA1045_uc003zvr.3_Missense_Mutation_p.V52I	p.V52I	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		1	332	+			52					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.154G>A	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	17.76	3.469083	0.63625	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	5.8	5.8	0.92144	.	0.268407	0.34906	N	0.003600	T	0.48205	0.1487	L	0.51422	1.61	0.37582	D	0.919842	P	0.52842	0.956	B	0.40228	0.323	T	0.53486	-0.8432	9	0.30854	T	0.27	.	17.5644	0.87916	0.0:0.0:1.0:0.0	.	52	Q9UPV7	K1045_HUMAN	I	52	.	ENSP00000242315:V52I	V	+	1	0	KIAA1045	34961449	1.000000	0.71417	0.999000	0.59377	0.801000	0.45260	2.252000	0.43196	2.744000	0.94065	0.655000	0.94253	GTC		0.647	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592	
C9orf64	84267	broad.mit.edu	37	9	86554575	86554575	+	Missense_Mutation	SNP	G	G	A	rs375078394		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:86554575G>A	ENST00000376344.3	-	4	1093	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F	C9orf64_ENST00000314700.1_Missense_Mutation_p.L152F	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	293										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTCCAGAAGACAATCCCGG	0.458																																						uc004anb.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(877-879)Ctt>Ttt		Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.		G	PHE/LEU	0,4406		0,0,2203	120.0	121.0	121.0		877	5.0	1.0	9		121	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf64	NM_032307.3	22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	293/342	86554575	1,13005	2203	4300	6503	SO:0001583	missense	84267							g.chr9:86554575G>A	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.877C>T	9.37:g.86554575G>A	ENSP00000365522:p.Leu293Phe					C9orf64_uc004anc.3_Missense_Mutation_p.L152F	p.L293F	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN			3	1125	-			293					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.877C>T	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.842388	0.51057	0.0	1.16E-4	ENSG00000165118	ENST00000376344;ENST00000314700	.	.	.	5.01	5.01	0.66863	.	0.063173	0.64402	D	0.000004	T	0.60392	0.2265	L	0.48986	1.54	0.80722	D	1	P	0.51537	0.946	P	0.51945	0.685	T	0.56165	-0.8024	9	0.27785	T	0.31	-15.9626	13.0823	0.59121	0.0777:0.0:0.9223:0.0	.	293	Q5T6V5	CI064_HUMAN	F	293;152	.	ENSP00000318375:L152F	L	-	1	0	C9orf64	85744395	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.403000	0.52615	2.496000	0.84212	0.563000	0.77884	CTT		0.458	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307	
GADD45G	10912	broad.mit.edu	37	9	92220750	92220750	+	Silent	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:92220750C>T	ENST00000252506.6	+	3	433	c.324C>T	c.(322-324)ggC>ggT	p.G108G	GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_Silent_p.G90G	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	108					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)	2						TGGGCGCCGGCGAGGAGGCGG	0.662																																					Colon(131;320 2336 18973 23919)	uc004aqq.3																			0				lung(2)	2						c.(322-324)ggC>ggT		Homo sapiens growth arrest and DNA-damage-inducible, gamma (GADD45G), mRNA.							29.0	26.0	27.0					9																	92220750		2200	4297	6497	SO:0001819	synonymous_variant	10912				activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding	g.chr9:92220750C>T	D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"""gadd-related protein, 17 kD"", ""growth arrest and DNA-damage-inducible gamma"""	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.324C>T	9.37:g.92220750C>T							p.G108G	NM_006705	NP_006696	O95257	GA45G_HUMAN			2	434	+			108					Q5VZ87|Q9C076	Silent	SNP	ENST00000252506.6	37	c.324C>T	CCDS6686.1																																																																																				0.662	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053000.1	NM_006705	
ERCC6L2	375748	broad.mit.edu	37	9	98728904	98728904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:98728904G>T	ENST00000288985.7	+	14	2346	c.2041G>T	c.(2041-2043)Gga>Tga	p.G681*	ERCC6L2_ENST00000437817.1_Nonsense_Mutation_p.G492*|ERCC6L2_ENST00000466840.1_3'UTR	NM_001010895.2	NP_001010895.1	Q5T890	ER6L2_HUMAN	excision repair cross-complementation group 6-like 2	681					DNA repair (GO:0006281)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)										AGCAGTTCAAGGATCTAAAGA	0.408																																						uc010mry.1																			0											c.(1147-1149)Gga>Tga		Homo sapiens chromosome 9 open reading frame 102 (C9orf102), mRNA.							133.0	122.0	125.0					9																	98728904		2203	4300	6503	SO:0001587	stop_gained	375748				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding	g.chr9:98728904G>T	BC022957	CCDS35072.1	9q22.32	2014-03-07	2014-03-07	2012-03-30	ENSG00000182150	ENSG00000182150			26922	protein-coding gene	gene with protein product		615667	"""chromosome 9 open reading frame 102"", ""excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2"""	C9orf102			Standard	NM_001010895		Approved	FLJ37706, RAD26L	uc004avt.4	Q5T890	OTTHUMG00000020289	ENST00000288985.7:c.2041G>T	9.37:g.98728904G>T	ENSP00000288985:p.Gly681*					ERCC6L2_uc004avt.4_Nonsense_Mutation_p.G681*|ERCC6L2_uc011lum.2_Nonsense_Mutation_p.G383*|ERCC6L2_uc010mrz.3_Nonsense_Mutation_p.G492*|ERCC6L2_uc004avu.3_5'UTR	p.G383*			Q5T890	RAD26_HUMAN			12	2235	+			681					A4D997|B2RTP8|Q49AM9|Q5T892|Q8N663|Q8N9D0|Q9NPM7	Nonsense_Mutation	SNP	ENST00000288985.7	37	c.1147G>T	CCDS35072.1	.	.	.	.	.	.	.	.	.	.	G	38	6.869348	0.97897	.	.	ENSG00000182150	ENST00000288985;ENST00000437817	.	.	.	5.64	5.64	0.86602	.	0.000000	0.49916	D	0.000138	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-23.201	19.5025	0.95103	0.0:0.0:1.0:0.0	.	.	.	.	X	681;492	.	ENSP00000288985:G681X	G	+	1	0	C9orf102	97768725	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.116000	0.89574	2.937000	0.99478	0.650000	0.86243	GGA		0.408	ERCC6L2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053247.2	NM_001010895	
DDX3X	1654	broad.mit.edu	37	X	41204796	41204796	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:41204796C>A	ENST00000399959.2	+	12	2165	c.1310C>A	c.(1309-1311)gCa>gAa	p.A437E	DDX3X_ENST00000457138.2_Missense_Mutation_p.A421E|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	437	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTCCTAAATGCAACAGGTAAC	0.418										HNSCC(61;0.18)																												uc004dfe.3																			0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1309-1311)gCa>gAa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.							84.0	76.0	78.0					X																	41204796		2010	4175	6185	SO:0001583	missense	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41204796C>A	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1310C>A	X.37:g.41204796C>A	ENSP00000382840:p.Ala437Glu	HNSCC(61;0.18)				DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.A437E|DDX3X_uc011mkq.2_Missense_Mutation_p.A421E|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	p.A437E	NM_001356	NP_001347	O00571	DDX3X_HUMAN			11	2165	+			437			Helicase C-terminal.|Necessary for interaction with XPO1.		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	ENST00000399959.2	37	c.1310C>A	CCDS43931.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.072446	0.76415	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.04275	3.66;3.66	5.23	5.23	0.72850	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.02494	0.0076	N	0.01656	-0.775	0.80722	D	1	B;P;B	0.34562	0.004;0.457;0.312	B;B;B	0.28385	0.004;0.089;0.089	T	0.59941	-0.7359	10	0.66056	D	0.02	-15.493	18.0725	0.89415	0.0:1.0:0.0:0.0	.	421;449;437	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	E	437;421	ENSP00000382840:A437E;ENSP00000392494:A421E	ENSP00000382840:A437E	A	+	2	0	DDX3X	41089740	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.718000	0.84743	2.203000	0.70933	0.522000	0.50473	GCA		0.418	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	NM_024005	
AKAP4	8852	broad.mit.edu	37	X	49957173	49957173	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:49957173C>T	ENST00000376056.2	-	5	2314	c.2164G>A	c.(2164-2166)Gca>Aca	p.A722T	AKAP4_ENST00000358526.2_Missense_Mutation_p.A731T|AKAP4_ENST00000376064.3_Missense_Mutation_p.A722T|AKAP4_ENST00000376058.2_Missense_Mutation_p.A348T|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGCTTATTTGCCGAGGCTGCT	0.448																																						uc004dow.1																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2191-2193)Gca>Aca		Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.							97.0	69.0	78.0					X																	49957173		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957173C>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2164G>A	X.37:g.49957173C>T	ENSP00000365224:p.Ala722Thr					AKAP4_uc004dou.1_Missense_Mutation_p.A722T|AKAP4_uc004dov.1_Missense_Mutation_p.A348T|AKAP4_uc010njp.1_Missense_Mutation_p.A553T	p.A731T	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN			4	2315	-	Ovarian(276;0.236)		731						Missense_Mutation	SNP	ENST00000376056.2	37	c.2191G>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430732	0.25726	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	4.82	-0.465	0.12157	A-kinase anchor 110kDa, C-terminal (1);	1.100810	0.06976	N	0.818945	T	0.04724	0.0128	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.11329	0.002;0.006	T	0.45116	-0.9283	9	.	.	.	-0.0117	3.3493	0.07146	0.3011:0.4165:0.0:0.2824	.	731;348	Q5JQC9;A6ND82	AKAP4_HUMAN;.	T	722;348;731;722	ENSP00000365224:A722T;ENSP00000365226:A348T;ENSP00000351327:A731T;ENSP00000365232:A722T	.	A	-	1	0	AKAP4	49843913	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.712000	0.05013	-0.276000	0.09206	-0.295000	0.09555	GCA		0.448	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886	
RGAG1	57529	broad.mit.edu	37	X	109694254	109694254	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:109694254G>A	ENST00000465301.2	+	3	655	c.409G>A	c.(409-411)Gta>Ata	p.V137I	RGAG1_ENST00000540313.1_Missense_Mutation_p.V137I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	137										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGAGTATGGGGTAATGTCCCC	0.502																																						uc004eor.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(409-411)Gta>Ata		Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.							126.0	105.0	112.0					X																	109694254		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109694254G>A	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.409G>A	X.37:g.109694254G>A	ENSP00000419786:p.Val137Ile					RGAG1_uc011msr.1_Missense_Mutation_p.V137I	p.V137I	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			2	655	+			137					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.409G>A	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	9.874	1.199742	0.22121	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.52057	0.68;0.68	4.02	0.169	0.15017	.	0.338447	0.16756	N	0.200825	T	0.22936	0.0554	N	0.14661	0.345	0.20307	N	0.999912	B	0.18166	0.026	B	0.16289	0.015	T	0.13926	-1.0491	9	.	.	.	-1.337	4.4063	0.11411	0.0:0.1171:0.4155:0.4674	.	137	Q8NET4	RGAG1_HUMAN	I	137	ENSP00000419786:V137I;ENSP00000441452:V137I	.	V	+	1	0	RGAG1	109580910	0.997000	0.39634	0.839000	0.33178	0.720000	0.41350	1.098000	0.31000	-0.063000	0.13065	-0.328000	0.08392	GTA		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
MAGEA11	4110	broad.mit.edu	37	X	148794878	148794878	+	Missense_Mutation	SNP	A	A	C			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:148794878A>C	ENST00000355220.5	+	2	161	c.59A>C	c.(58-60)aAg>aCg	p.K20T	MAGEA11_ENST00000333104.4_Intron	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	20						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATCAAGAGGAAGAAGAAGAGG	0.572																																						uc004fdq.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9						c.(58-60)aAg>aCg		Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.							126.0	97.0	107.0					X																	148794878		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148794878A>C		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.59A>C	X.37:g.148794878A>C	ENSP00000347358:p.Lys20Thr					MAGEA11_uc004fdr.3_Intron	p.K20T	NM_005366	NP_005357	P43364	MAGAB_HUMAN			1	214	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		20					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.59A>C	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	4.752	0.139755	0.09083	.	.	ENSG00000185247	ENST00000355220	T	0.02395	4.31	0.947	-1.89	0.07689	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	P	0.41232	0.743	B	0.23150	0.044	T	0.47446	-0.9117	9	0.72032	D	0.01	.	4.1303	0.10146	0.5429:0.0:0.4571:0.0	.	20	P43364	MAGAB_HUMAN	T	20	ENSP00000347358:K20T	ENSP00000347358:K20T	K	+	2	0	MAGEA11	148579527	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-1.052000	0.03503	-0.712000	0.04988	-0.590000	0.04114	AAG		0.572	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366	
