#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTL7A	10881	genome.wustl.edu	37	9	111625797	111625797	+	Missense_Mutation	SNP	G	G	A	rs548785692		TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr9:111625797G>A	ENST00000333999.3	+	1	1195	c.1195G>A	c.(1195-1197)Gtg>Atg	p.V399M		NM_006687.2	NP_006678.1	Q9Y615	ACL7A_HUMAN	actin-like 7A	399						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|male germ cell nucleus (GO:0001673)|motile cilium (GO:0031514)|nucleus (GO:0005634)|protein complex (GO:0043234)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AGACAGTGCCGTGTGGACCGG	0.567													G|||	1	0.000199681	0.0	0.0	5008	,	,		20722	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(177;1480 3591 17554)	dbGAP											0													101.0	80.0	87.0					9																	111625797		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014610	CCDS6772.1	9q31	2008-02-05			ENSG00000187003	ENSG00000187003			161	protein-coding gene	gene with protein product		604303				10373328	Standard	NM_006687		Approved		uc004bdj.1	Q9Y615	OTTHUMG00000020461	ENST00000333999.3:c.1195G>A	9.37:g.111625797G>A	ENSP00000334300:p.Val399Met		B2RC83|Q5JSV0	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.V399M	ENST00000333999.3	37	c.1195	CCDS6772.1	9	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832056	0.71258	.	.	ENSG00000187003	ENST00000333999	D	0.95069	-3.6	5.44	4.53	0.55603	.	0.000000	0.41938	D	0.000782	D	0.97980	0.9335	H	0.96691	3.865	0.49299	D	0.99977	D	0.89917	1.0	D	0.97110	1.0	D	0.98036	1.0379	10	0.87932	D	0	.	11.5617	0.50780	0.0865:0.0:0.9135:0.0	.	399	Q9Y615	ACL7A_HUMAN	M	399	ENSP00000334300:V399M	ENSP00000334300:V399M	V	+	1	0	ACTL7A	110665618	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	7.994000	0.88315	2.715000	0.92844	0.655000	0.94253	GTG	ACTL7A	-	pfam_Actin-like,smart_Actin-like	ENSG00000187003		0.567	ACTL7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7A	HGNC	protein_coding	OTTHUMT00000053570.1	39	0.00	0	G	NM_006687		111625797	111625797	+1	no_errors	ENST00000333999	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	0.998	A
ACTR5	79913	genome.wustl.edu	37	20	37377139	37377139	+	Silent	SNP	C	C	T	rs2254105	byFrequency	TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr20:37377139C>T	ENST00000243903.4	+	1	55	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	6					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CGAACGTGTTCCCGTTCCGCG	0.756													C|||	1227	0.245008	0.205	0.2334	5008	,	,		10427	0.2679		0.2565	False		,,,				2504	0.272					dbGAP											0													3.0	4.0	4.0					20																	37377139		1470	2633	4103	-	-	-	SO:0001819	synonymous_variant	0			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.18C>T	20.37:g.37377139C>T			Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	pfam_Actin-like,smart_Actin-like	p.F6	ENST00000243903.4	37	c.18	CCDS13308.1	20																																																																																			ACTR5	-	NULL	ENSG00000101442		0.756	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	11	0.00	0	C	NM_024855		37377139	37377139	+1	no_errors	ENST00000243903	ensembl	human	known	69_37n	silent	4	50.00	4	SNP	0.273	T
ANKHD1	54882	genome.wustl.edu	37	5	139908991	139908991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr5:139908991C>T	ENST00000360839.2	+	29	6614	c.6460C>T	c.(6460-6462)Cag>Tag	p.Q2154*	ANKHD1_ENST00000297183.6_Nonsense_Mutation_p.Q2154*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.Q537*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.Q2154*|SNORD45_ENST00000363181.1_RNA	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2154						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTATTCACCAGGATCCCCA	0.448																																						dbGAP											0													173.0	176.0	175.0					5																	139908991		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6460C>T	5.37:g.139908991C>T	ENSP00000354085:p.Gln2154*		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.Q2154*	ENST00000360839.2	37	c.6460	CCDS4225.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.350492|5.350492	0.95830|0.95830	.|.	.|.	ENSG00000131503|ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996	ENST00000435794;ENST00000432301|ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000536646;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495	.|.	.|.	.|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.065734	.|0.64402	.|D	.|0.000008	T|.	0.43322|.	0.1242|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39396|.	-0.9616|.	3|.	.|0.08837	.|T	.|0.75	.|.	14.1281|14.1281	0.65235|0.65235	0.1499:0.8501:0.0:0.0|0.1499:0.8501:0.0:0.0	.|.	.|.	.|.	.|.	L|X	644;604|2154;2154;2154;810;589;676;537;2154;165	.|.	.|ENSP00000396882:Q165X	P|Q	+|+	2|1	0|0	ANKHD1|ANKHD1-EIF4EBP3;ANKHD1	139889175|139889175	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.374000|5.374000	0.66167|0.66167	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	CCA|CAG	ANKHD1	-	NULL	ENSG00000131503		0.448	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	38	0.00	0	C	NM_017747		139908991	139908991	+1	no_errors	ENST00000297183	ensembl	human	known	69_37n	nonsense	38	19.15	9	SNP	1.000	T
BOD1L1	259282	genome.wustl.edu	37	4	13617077	13617077	+	Missense_Mutation	SNP	C	C	A			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr4:13617077C>A	ENST00000040738.5	-	3	553	c.418G>T	c.(418-420)Gac>Tac	p.D140Y		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	140						nucleus (GO:0005634)	DNA binding (GO:0003677)										ATCTTTGGGTCCACAACCTGA	0.398																																						dbGAP											0													135.0	131.0	132.0					4																	13617077		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.418G>T	4.37:g.13617077C>A	ENSP00000040738:p.Asp140Tyr		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.D140Y	ENST00000040738.5	37	c.418	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920244	0.92249	.	.	ENSG00000038219	ENST00000040738	T	0.11604	2.76	5.51	5.51	0.81932	.	0.000000	0.44483	D	0.000458	T	0.32823	0.0842	L	0.58101	1.795	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.00958	-1.1500	10	0.87932	D	0	-12.6339	19.7872	0.96444	0.0:1.0:0.0:0.0	.	140	Q8NFC6	BOD1L_HUMAN	Y	140	ENSP00000040738:D140Y	ENSP00000040738:D140Y	D	-	1	0	BOD1L	13226175	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.741000	0.93983	0.655000	0.94253	GAC	BOD1L1	-	NULL	ENSG00000038219		0.398	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	87	0.00	0	C	NM_148894		13617077	13617077	-1	no_errors	ENST00000040738	ensembl	human	known	69_37n	missense	87	22.32	25	SNP	1.000	A
CACNA1E	777	genome.wustl.edu	37	1	181767845	181767845	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr1:181767845C>T	ENST00000367573.2	+	48	6817	c.6817C>T	c.(6817-6819)Cgg>Tgg	p.R2273W	CACNA1E_ENST00000526775.1_Missense_Mutation_p.R2211W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2224W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2254W|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R2162W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2230W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1837W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2273					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCCACCCCTGCGGCATAGCTG	0.652																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6817C>T	1.37:g.181767845C>T	ENSP00000356545:p.Arg2273Trp		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.R2273W	ENST00000367573.2	37	c.6817	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891716	0.72524	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97186	-4.2;-4.19;-4.1;-4.19;-4.28;-4.11;-4.1	5.59	3.54	0.40534	.	0.000000	0.85682	D	0.000000	D	0.97451	0.9166	L	0.46157	1.445	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98149	1.0440	10	0.87932	D	0	.	14.8482	0.70275	0.3328:0.6671:0.0:0.0	.	2211;2230	Q15878-2;Q15878-3	.;.	W	2230;2211;2224;2162;1837;2254;2273	ENSP00000356542:R2230W;ENSP00000434814:R2211W;ENSP00000350183:R2224W;ENSP00000351101:R2162W;ENSP00000356539:R1837W;ENSP00000353222:R2254W;ENSP00000356545:R2273W	ENSP00000350183:R2224W	R	+	1	2	CACNA1E	180034468	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.803000	0.27083	1.331000	0.45412	0.563000	0.77884	CGG	CACNA1E	-	NULL	ENSG00000198216		0.652	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	49	0.00	0	C	NM_000721		181767845	181767845	+1	no_errors	ENST00000367573	ensembl	human	known	69_37n	missense	50	19.35	12	SNP	0.998	T
CD8B	926	genome.wustl.edu	37	2	87085532	87085532	+	Silent	SNP	A	A	G	rs137953763	byFrequency	TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr2:87085532A>G	ENST00000390655.6	-	2	109	c.51T>C	c.(49-51)caT>caC	p.H17H	CD8B_ENST00000331469.2_Silent_p.H17H|CD8B_ENST00000349455.3_Silent_p.H17H|CD8B_ENST00000393759.2_Silent_p.H17H|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393761.2_Silent_p.H17H	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	17					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CTGAGTTGCCATGGAGAACTA	0.488																																						dbGAP											0													62.0	58.0	59.0					2																	87085532		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.51T>C	2.37:g.87085532A>G			P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.H17	ENST00000390655.6	37	c.51	CCDS1997.1	2																																																																																			CD8B	-	pfscan_Ig-like	ENSG00000172116		0.488	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD8B	HGNC	protein_coding	OTTHUMT00000330402.1	60	0.00	0	A	NM_172099		87085532	87085532	-1	no_errors	ENST00000331469	ensembl	human	known	69_37n	silent	57	20.83	15	SNP	0.000	G
CSMD1	64478	genome.wustl.edu	37	8	3008925	3008925	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr8:3008925C>T	ENST00000520002.1	-	41	6583	c.6028G>A	c.(6028-6030)Ggc>Agc	p.G2010S	CSMD1_ENST00000602557.1_Missense_Mutation_p.G2010S|CSMD1_ENST00000537824.1_Missense_Mutation_p.G2009S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2010S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2009S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2010S|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.G2009S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2010	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTACCATAGCCGATGGGTAAT	0.443																																						dbGAP											0													88.0	91.0	90.0					8																	3008925		1994	4178	6172	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6028G>A	8.37:g.3008925C>T	ENSP00000430733:p.Gly2010Ser		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G2010S	ENST00000520002.1	37	c.6028		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.949170|3.949170	0.73787|0.73787	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33;1.22|.	5.03|5.03	5.03|5.03	0.67393|0.67393	CUB (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78541|0.78541	0.4299|0.4299	M|M	0.80982|0.80982	2.52|2.52	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.993|.	D;D;D;D|.	0.97110|.	0.999;0.987;1.0;0.922|.	T|T	0.80037|0.80037	-0.1550|-0.1550	10|5	0.87932|.	D|.	0|.	.|.	18.3819|18.3819	0.90453|0.90453	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2010;2010;2009;2010|.	E5RIG2;Q96PZ7;F5H2I8;Q96PZ7-4|.	.;CSMD1_HUMAN;.;.|.	S|Q	2010;2010;1871;2009;2009;2009|1489	ENSP00000383047:G2010S;ENSP00000430733:G2010S;ENSP00000441462:G2009S;ENSP00000446243:G2009S;ENSP00000441675:G2009S|.	ENSP00000320445:G1871S|.	G|R	-|-	1|2	0|0	CSMD1|CSMD1	2996332|2996332	1.000000|1.000000	0.71417|0.71417	0.910000|0.910000	0.35882|0.35882	0.014000|0.014000	0.08584|0.08584	7.554000|7.554000	0.82212|0.82212	2.304000|2.304000	0.77564|0.77564	0.650000|0.650000	0.86243|0.86243	GGC|CGG	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.443	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	61	0.00	0	C	NM_033225		3008925	3008925	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	60	21.05	16	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11603102	11603102	+	Missense_Mutation	SNP	C	C	A			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr17:11603102C>A	ENST00000262442.4	+	23	4995	c.4927C>A	c.(4927-4929)Cta>Ata	p.L1643I	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1643I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1643	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCGATTCCAGCTAGATGCCAG	0.502																																						dbGAP											0													139.0	109.0	119.0					17																	11603102		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4927C>A	17.37:g.11603102C>A	ENSP00000262442:p.Leu1643Ile		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L1643I	ENST00000262442.4	37	c.4927	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076728	0.36662	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.60920	0.15;0.15	5.45	-6.91	0.01649	Dynein heavy chain, domain-2 (1);	0.667620	0.13984	N	0.349299	T	0.37972	0.1023	L	0.45581	1.43	0.24621	N	0.993671	B	0.30605	0.287	B	0.32342	0.144	T	0.25916	-1.0118	10	0.38643	T	0.18	.	2.9779	0.05943	0.1159:0.2144:0.3824:0.2873	.	1643	Q9NYC9	DYH9_HUMAN	I	1643;1643;225	ENSP00000262442:L1643I;ENSP00000414874:L1643I	ENSP00000262442:L1643I	L	+	1	2	DNAH9	11543827	0.000000	0.05858	0.061000	0.19648	0.787000	0.44495	-0.363000	0.07593	-0.649000	0.05430	0.655000	0.94253	CTA	DNAH9	-	pfam_Dynein_heavy_dom-2	ENSG00000007174		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	73	0.00	0	C	NM_001372		11603102	11603102	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	missense	72	15.29	13	SNP	0.073	A
GATA3	2625	genome.wustl.edu	37	10	8111550	8111550	+	Nonsense_Mutation	SNP	A	A	T			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr10:8111550A>T	ENST00000346208.3	+	5	1491	c.1036A>T	c.(1036-1038)Aag>Tag	p.K346*	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Nonsense_Mutation_p.K347*			P23771	GATA3_HUMAN	GATA binding protein 3	346					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCTCTACTACAAGCTTCACAA	0.557			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0													127.0	90.0	102.0					10																	8111550		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1036A>T	10.37:g.8111550A>T	ENSP00000341619:p.Lys346*		Q5VWG7|Q5VWG8|Q96J16	Nonsense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.K347*	ENST00000346208.3	37	c.1039	CCDS7083.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	43|43	9.871325|9.871325	0.99284|0.99284	.|.	.|.	ENSG00000107485|ENSG00000107485	ENST00000379328;ENST00000346208|ENST00000544011	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.75910	.|0.3914	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79470	.|-0.1790	.|5	0.02654|0.87932	T|D	1|0	-21.1613|-21.1613	15.5789|15.5789	0.76418|0.76418	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	347;346|126	.|.	ENSP00000341619:K346X|ENSP00000439641:Q126L	K|Q	+|+	1|2	0|0	GATA3|GATA3	8151556|8151556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	9.287000|9.287000	0.95975|0.95975	2.140000|2.140000	0.66376|0.66376	0.459000|0.459000	0.35465|0.35465	AAG|CAA	GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.557	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	65	0.00	0	A	NM_001002295		8111550	8111550	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	nonsense	57	17.39	12	SNP	1.000	T
GUSB	2990	genome.wustl.edu	37	7	65440012	65440012	+	Missense_Mutation	SNP	T	T	C			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr7:65440012T>C	ENST00000304895.4	-	6	1089	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000421103.1_Missense_Mutation_p.Y174C|GUSB_ENST00000345660.6_Intron	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	320			Y -> C (in MPS7). {ECO:0000269|PubMed:8644704}.|Y -> S (in MPS7). {ECO:0000269|PubMed:8644704}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AGGGAGTGTGTAGAAGTCAGA	0.562																																						dbGAP											0			GRCh37	CM960795|CM960796	GUSB	M							91.0	85.0	87.0					7																	65440012		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.959A>G	7.37:g.65440012T>C	ENSP00000302728:p.Tyr320Cys		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.Y320C	ENST00000304895.4	37	c.959	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	T	15.16	2.750271	0.49257	.	.	ENSG00000169919	ENST00000304895;ENST00000421103	D;D	0.95918	-2.2;-3.85	4.9	4.9	0.64082	Glycoside hydrolase, family 2, immunoglobulin-like beta-sandwich (2);Glycoside hydrolase, family 2/20, immunoglobulin-like beta-sandwich domain (1);	0.175429	0.52532	D	0.000074	D	0.98245	0.9419	H	0.94964	3.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.975;1.0	D	0.99379	1.0922	10	0.87932	D	0	.	13.8578	0.63540	0.0:0.0:0.0:1.0	.	174;320	E9PCV0;P08236	.;BGLR_HUMAN	C	320;174	ENSP00000302728:Y320C;ENSP00000391390:Y174C	ENSP00000302728:Y320C	Y	-	2	0	GUSB	65077447	1.000000	0.71417	0.947000	0.38551	0.024000	0.10985	7.621000	0.83083	2.047000	0.60756	0.418000	0.28097	TAC	GUSB	-	pfam_Glyco_hydro_2_Ig-like,superfamily_Glyco_hydro_2_Ig-like	ENSG00000169919		0.562	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	25	0.00	0	T	NM_000181		65440012	65440012	-1	no_errors	ENST00000304895	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	1.000	C
HEPACAM2	253012	genome.wustl.edu	37	7	92848661	92848661	+	Silent	SNP	T	T	A			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr7:92848661T>A	ENST00000394468.2	-	2	260	c.183A>T	c.(181-183)gcA>gcT	p.A61A	HEPACAM2_ENST00000440868.1_Silent_p.A49A|HEPACAM2_ENST00000453812.2_Silent_p.A84A|HEPACAM2_ENST00000341723.4_Silent_p.A49A	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	61					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GGATGTCTGATGCTGGAGTGT	0.522																																						dbGAP											0													145.0	142.0	143.0					7																	92848661		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.183A>T	7.37:g.92848661T>A			B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A61	ENST00000394468.2	37	c.183	CCDS43616.1	7																																																																																			HEPACAM2	-	pfam_Ig_V-set,smart_Ig_sub	ENSG00000188175		0.522	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEPACAM2	HGNC	protein_coding	OTTHUMT00000254651.1	85	0.00	0	T	NM_198151		92848661	92848661	-1	no_errors	ENST00000394468	ensembl	human	known	69_37n	silent	87	17.14	18	SNP	0.681	A
KCTD3	51133	genome.wustl.edu	37	1	215793916	215793916	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr1:215793916C>T	ENST00000259154.4	+	18	2698	c.2404C>T	c.(2404-2406)Cgg>Tgg	p.R802W	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	802					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCATCTCCTCGGCATAAAAA	0.423																																						dbGAP											0													95.0	97.0	96.0					1																	215793916		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2404C>T	1.37:g.215793916C>T	ENSP00000259154:p.Arg802Trp		A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like	p.R802W	ENST00000259154.4	37	c.2404	CCDS1515.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778305	0.90195	.	.	ENSG00000136636	ENST00000259154	T	0.50277	0.75	5.87	4.96	0.65561	.	0.059227	0.64402	N	0.000001	T	0.52092	0.1713	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.71674	0.998;0.997;0.998;0.996	P;P;P;P	0.53861	0.736;0.653;0.736;0.549	T	0.57802	-0.7748	10	0.87932	D	0	-13.2609	17.1008	0.86649	0.0:0.8733:0.1267:0.0	.	552;554;800;802	B7ZAF7;B4DJX2;Q9Y597-2;Q9Y597	.;.;.;KCTD3_HUMAN	W	802	ENSP00000259154:R802W	ENSP00000259154:R802W	R	+	1	2	KCTD3	213860539	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.332000	0.52083	1.478000	0.48253	0.655000	0.94253	CGG	KCTD3	-	NULL	ENSG00000136636		0.423	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD3	HGNC	protein_coding	OTTHUMT00000089871.2	14	0.00	0	C	NM_016121		215793916	215793916	+1	no_errors	ENST00000259154	ensembl	human	known	69_37n	missense	19	38.71	12	SNP	1.000	T
KCTD5	54442	genome.wustl.edu	37	16	2745959	2745959	+	Silent	SNP	C	C	T	rs528078904	byFrequency	TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr16:2745959C>T	ENST00000301738.4	+	2	350	c.276C>T	c.(274-276)atC>atT	p.I92I	KCTD5_ENST00000564195.1_Silent_p.I92I|KCTD5_ENST00000569689.1_3'UTR	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	92	BTB.				protein homooligomerization (GO:0051260)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						CCTATTTAATCGACAGAGACC	0.557													c|||	120	0.0239617	0.0877	0.0043	5008	,	,		19514	0.0		0.001	False		,,,				2504	0.0				Ovarian(56;981 1456 4301 50892)	dbGAP											0													1.0	1.0	1.0					16																	2745959		477	806	1283	-	-	-	SO:0001819	synonymous_variant	0			AK000047	CCDS10475.1	16p13.3	2013-06-20	2013-06-20		ENSG00000167977	ENSG00000167977			21423	protein-coding gene	gene with protein product		611285	"""potassium channel tetramerisation domain containing 5"""			12477932	Standard	NM_018992		Approved	FLJ20040	uc002crd.3	Q9NXV2	OTTHUMG00000128930	ENST00000301738.4:c.276C>T	16.37:g.2745959C>T			D3DU96	Silent	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	p.I92	ENST00000301738.4	37	c.276	CCDS10475.1	16																																																																																			KCTD5	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000167977		0.557	KCTD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD5	HGNC	protein_coding	OTTHUMT00000250909.2	12	0.00	0	C	NM_018992		2745959	2745959	+1	no_errors	ENST00000301738	ensembl	human	known	69_37n	silent	14	46.15	12	SNP	1.000	T
LILRA5	353514	genome.wustl.edu	37	19	54823200	54823200	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr19:54823200G>A	ENST00000301219.3	-	4	462	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	LILRA5_ENST00000446712.3_Missense_Mutation_p.R103C|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.R115C|LILRA5_ENST00000346508.3_Missense_Mutation_p.R103C	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	115	Ig-like C2-type 1.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TAGTAACAGCGGTATCTCCCT	0.607																																						dbGAP											0													287.0	249.0	262.0					19																	54823200		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.343C>T	19.37:g.54823200G>A	ENSP00000301219:p.Arg115Cys		A6NHI3	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2	p.R115C	ENST00000301219.3	37	c.343	CCDS12888.1	19	.	.	.	.	.	.	.	.	.	.	G	9.090	1.001606	0.19121	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	2.5	-2.56	0.06268	Immunoglobulin subtype 2 (1);Immunoglobulin-like fold (1);	1.276350	0.05686	N	0.591382	T	0.35913	0.0948	M	0.91510	3.215	0.09310	N	1	P;D;D;D	0.61080	0.689;0.968;0.963;0.989	B;B;P;P	0.57911	0.346;0.409;0.53;0.829	T	0.38672	-0.9650	10	0.62326	D	0.03	.	6.2679	0.20939	0.624:0.0:0.376:0.0	.	103;115;103;115	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	C	115;103;103;115	ENSP00000301219:R115C;ENSP00000302948:R103C;ENSP00000389499:R103C;ENSP00000404236:R115C	ENSP00000301219:R115C	R	-	1	0	LILRA5	59515012	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.233000	0.09041	-0.326000	0.08564	0.205000	0.17691	CGC	LILRA5	-	smart_Ig_sub,smart_Ig_sub2	ENSG00000187116		0.607	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA5	HGNC	protein_coding	OTTHUMT00000140231.1	49	0.00	0	G	NM_181985		54823200	54823200	-1	no_errors	ENST00000301219	ensembl	human	known	69_37n	missense	38	32.14	18	SNP	0.000	A
MAP3K9	4293	genome.wustl.edu	37	14	71206700	71206700	+	Intron	DEL	A	A	-			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr14:71206700delA	ENST00000554752.2	-	7	1690				MAP3K9_ENST00000381250.4_Intron|MAP3K9_ENST00000553414.1_Frame_Shift_Del_p.A277fs|MAP3K9_ENST00000554146.1_Intron|MAP3K9_ENST00000555993.2_Intron	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9						activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GGCTGGACAGAGCAGGGGACA	0.542																																					GBM(114;411 1587 13539 28235 50070)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.1690+58T>-	14.37:g.71206700delA			A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L278fs	ENST00000554752.2	37	c.831		14																																																																																			MAP3K9	-	NULL	ENSG00000006432		0.542	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	42	0.00	0	A			71206700	71206700	-1	no_errors	ENST00000553414	ensembl	human	putative	69_37n	frame_shift_del	46	22.95	14	DEL	0.995	-
MCF2	4168	genome.wustl.edu	37	X	138689712	138689712	+	Intron	SNP	G	G	A			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chrX:138689712G>A	ENST00000370576.4	-	12	1700				MCF2_ENST00000370578.4_Intron|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000338585.6_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000519895.1_Intron|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370573.4_Intron	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGTTGGCCAGGCCTAAATCCT	0.373																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1490+137C>T	X.37:g.138689712G>A			B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	RNA	SNP	-	NULL	ENST00000370576.4	37	NULL	CCDS14667.1	X																																																																																			MCF2	-	-	ENSG00000101977		0.373	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	HGNC	protein_coding	OTTHUMT00000058560.1	12	0.00	0	G	NM_005369		138689712	138689712	-1	no_errors	ENST00000483690	ensembl	human	known	69_37n	rna	10	33.33	5	SNP	0.000	A
MFF	56947	genome.wustl.edu	37	2	228211954	228211954	+	Silent	SNP	G	G	A	rs555978161		TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr2:228211954G>A	ENST00000353339.3	+	8	1047	c.606G>A	c.(604-606)tcG>tcA	p.S202S	MFF_ENST00000409565.1_Intron|MFF_ENST00000304593.9_Silent_p.S151S|MFF_ENST00000392059.1_Silent_p.S202S|MFF_ENST00000524634.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000354503.6_Intron|MFF_ENST00000476924.1_Intron|MFF_ENST00000337110.7_Intron	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	202					mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|peroxisome fission (GO:0016559)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homooligomerization (GO:0051260)|protein targeting to mitochondrion (GO:0006626)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of mitochondrial membrane (GO:0032592)|mitochondrial outer membrane (GO:0005741)|peroxisome (GO:0005777)|synapse (GO:0045202)	protein homodimerization activity (GO:0042803)	p.S202S(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						TGACACCATCGCCACAACAGG	0.423													G|||	1	0.000199681	0.0	0.0	5008	,	,		18918	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											164.0	149.0	154.0					2																	228211954		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF258660	CCDS2465.1, CCDS63139.1, CCDS63140.1, CCDS63141.1, CCDS63142.1, CCDS74662.1	2q36	2008-05-29	2008-05-29	2008-05-29	ENSG00000168958	ENSG00000168958			24858	protein-coding gene	gene with protein product		614785	"""chromosome 2 open reading frame 33"""	C2orf33		18353969	Standard	NM_001277061		Approved	GL004	uc002voy.4	Q9GZY8	OTTHUMG00000133180	ENST00000353339.3:c.606G>A	2.37:g.228211954G>A			Q567U1|Q658R6|Q9BVZ1|Q9H690|Q9NRG8	Silent	SNP	pfam_FATE/Miff/Tango-11	p.S202	ENST00000353339.3	37	c.606	CCDS2465.1	2																																																																																			MFF	-	pfam_FATE/Miff/Tango-11	ENSG00000168958		0.423	MFF-001	KNOWN	basic|CCDS	protein_coding	MFF	HGNC	protein_coding	OTTHUMT00000256887.2	60	0.00	0	G	NM_020194		228211954	228211954	+1	no_errors	ENST00000353339	ensembl	human	known	69_37n	silent	41	19.61	10	SNP	1.000	A
KMT2C	58508	genome.wustl.edu	37	7	151896463	151896463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr7:151896463G>A	ENST00000262189.6	-	27	4392	c.4174C>T	c.(4174-4176)Cag>Tag	p.Q1392*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1392*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1392					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TATAAAAGCTGAGCTCCATCT	0.378																																						dbGAP											0													87.0	85.0	86.0					7																	151896463		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.4174C>T	7.37:g.151896463G>A	ENSP00000262189:p.Gln1392*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1392*	ENST00000262189.6	37	c.4174	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	44	11.203414	0.99530	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.45	4.57	0.56435	.	0.387614	0.19181	N	0.120685	.	.	.	.	.	.	0.50467	D	0.999872	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	9.9967	0.41905	0.0717:0.0:0.7907:0.1375	.	.	.	.	X	1392	.	ENSP00000262189:Q1392X	Q	-	1	0	MLL3	151527396	1.000000	0.71417	0.232000	0.24009	0.970000	0.65996	3.434000	0.52841	1.311000	0.45024	0.650000	0.86243	CAG	MLL3	-	NULL	ENSG00000055609		0.378	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	23	0.00	0	G			151896463	151896463	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	34	34.62	18	SNP	0.599	A
NCOR1	9611	genome.wustl.edu	37	17	15968898	15968898	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr17:15968898delT	ENST00000268712.3	-	33	5109	c.4852delA	c.(4852-4854)attfs	p.I1618fs	NCOR1_ENST00000395857.3_Frame_Shift_Del_p.I202fs|NCOR1_ENST00000395851.1_Frame_Shift_Del_p.I1634fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1618	Interaction with C1D. {ECO:0000250}.|Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGTGAGGTAATGTAATCATTT	0.483																																						dbGAP											0													194.0	168.0	177.0					17																	15968898		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.4852delA	17.37:g.15968898delT	ENSP00000268712:p.Ile1618fs		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Del	DEL	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.I1618fs	ENST00000268712.3	37	c.4852	CCDS11175.1	17																																																																																			NCOR1	-	NULL	ENSG00000141027		0.483	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	90	0.00	0	T	NM_006311		15968898	15968898	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	frame_shift_del	86	10.31	10	DEL	1.000	-
NPEPPS	9520	genome.wustl.edu	37	17	45663749	45663749	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr17:45663749G>A	ENST00000322157.4	+	8	1202	c.965G>A	c.(964-966)gGc>gAc	p.G322D	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.G242D|NPEPPS_ENST00000530173.1_Missense_Mutation_p.G318D	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	322					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G322D(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GAGAACTGGGGCCTTGTTACT	0.313																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											65.0	51.0	55.0					17																	45663749		1829	4069	5898	-	-	-	SO:0001583	missense	0			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.965G>A	17.37:g.45663749G>A	ENSP00000320324:p.Gly322Asp		B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.G322D	ENST00000322157.4	37	c.965	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961429	0.74016	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660;ENST00000527964;ENST00000527360	T;T;T;T;T	0.08282	3.11;3.11;3.11;3.11;3.11	5.71	5.71	0.89125	Peptidase M1, membrane alanine aminopeptidase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	H	0.99535	4.615	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.75484	0.986;0.986	T	0.74878	-0.3514	10	0.87932	D	0	.	19.8494	0.96733	0.0:0.0:1.0:0.0	rs1809279;rs1809279	318;322	E9PLK3;P55786	.;PSA_HUMAN	D	318;322;309;242;5;5	ENSP00000433287:G318D;ENSP00000320324:G322D;ENSP00000442461:G242D;ENSP00000435639:G5D;ENSP00000435966:G5D	ENSP00000320324:G322D	G	+	2	0	NPEPPS	43018748	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.016000	0.88706	2.705000	0.92388	0.585000	0.79938	GGC	NPEPPS	-	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	ENSG00000141279		0.313	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	40	0.00	0	G	NM_006310		45663749	45663749	+1	no_errors	ENST00000322157	ensembl	human	known	69_37n	missense	48	11.11	6	SNP	1.000	A
NRXN2	9379	genome.wustl.edu	37	11	64419603	64419603	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr11:64419603C>T	ENST00000377551.1	-	12	2651	c.2440G>A	c.(2440-2442)Gcg>Acg	p.A814T	NRXN2_ENST00000377559.3_Missense_Mutation_p.A774T|NRXN2_ENST00000265459.6_Missense_Mutation_p.A814T|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.A807T			Q9P2S2	NRX2A_HUMAN	neurexin 2	814	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TTGTGCCCCGCAAACAGCGTT	0.567																																						dbGAP											0													96.0	68.0	78.0					11																	64419603		2201	4297	6498	-	-	-	SO:0001583	missense	0				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2440G>A	11.37:g.64419603C>T	ENSP00000366774:p.Ala814Thr		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.A814T	ENST00000377551.1	37	c.2440	CCDS8077.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.657854	0.96734	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42053	U	0.000778	D	0.82976	0.5154	M	0.68952	2.095	0.53688	D	0.99997	D;P;D	0.58268	0.982;0.888;0.96	P;P;P	0.54210	0.705;0.714;0.745	D	0.84756	0.0759	10	0.59425	D	0.04	.	15.6201	0.76799	0.0:1.0:0.0:0.0	.	774;814;560	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	T	814;774;814;774;807	ENSP00000366774:A814T;ENSP00000366782:A774T;ENSP00000265459:A814T;ENSP00000386416:A807T	ENSP00000265459:A814T	A	-	1	0	NRXN2	64176179	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.610000	0.82949	2.553000	0.86117	0.561000	0.74099	GCG	NRXN2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000110076		0.567	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRXN2	HGNC	protein_coding	OTTHUMT00000104967.3	16	0.00	0	C	NM_015080		64419603	64419603	-1	no_errors	ENST00000265459	ensembl	human	known	69_37n	missense	21	22.22	6	SNP	1.000	T
OLFML2B	25903	genome.wustl.edu	37	1	161954651	161954651	+	Missense_Mutation	SNP	T	T	C			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr1:161954651T>C	ENST00000294794.3	-	7	2017	c.1594A>G	c.(1594-1596)Aac>Gac	p.N532D	OLFML2B_ENST00000367940.2_Missense_Mutation_p.N533D|OLFML2B_ENST00000367938.1_Missense_Mutation_p.N15D	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	532	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TAGTAATAGTTGGTTACGTAA	0.537																																						dbGAP											0													275.0	251.0	259.0					1																	161954651		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1594A>G	1.37:g.161954651T>C	ENSP00000294794:p.Asn532Asp		B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Missense_Mutation	SNP	pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like	p.N532D	ENST00000294794.3	37	c.1594	CCDS1236.1	1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.848982	0.71603	.	.	ENSG00000162745	ENST00000294794;ENST00000367940;ENST00000367938	D;D;D	0.88201	-2.35;-2.35;-2.35	4.31	3.18	0.36537	Olfactomedin-like (3);	.	.	.	.	T	0.77948	0.4207	N	0.21194	0.64	0.41623	D	0.988978	P;B	0.39551	0.678;0.08	P;B	0.49387	0.609;0.088	T	0.72653	-0.4228	8	0.38643	T	0.18	.	7.8518	0.29459	0.0:0.1003:0.0:0.8997	.	533;532	F2Z3N3;Q68BL8	.;OLM2B_HUMAN	D	532;533;15	ENSP00000294794:N532D;ENSP00000356917:N533D;ENSP00000356915:N15D	ENSP00000294794:N532D	N	-	1	0	OLFML2B	160221275	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.867000	0.63013	0.703000	0.31848	0.459000	0.35465	AAC	OLFML2B	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	ENSG00000162745		0.537	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OLFML2B	HGNC	protein_coding	OTTHUMT00000060552.2	69	0.00	0	T	NM_015441		161954651	161954651	-1	no_errors	ENST00000294794	ensembl	human	known	69_37n	missense	131	17.61	28	SNP	1.000	C
OR2T33	391195	genome.wustl.edu	37	1	248436527	248436527	+	Missense_Mutation	SNP	A	A	C	rs142669752	byFrequency	TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr1:248436527A>C	ENST00000318021.2	-	1	611	c.590T>G	c.(589-591)aTg>aGg	p.M197R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	197						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGATGTACATGGCGTTTTC	0.522																																						dbGAP											0													24.0	26.0	25.0					1																	248436527		2190	4269	6459	-	-	-	SO:0001583	missense	0				CCDS31109.1	1q44	2012-08-09			ENSG00000177212	ENSG00000177212		"""GPCR / Class A : Olfactory receptors"""	31255	protein-coding gene	gene with protein product							Standard	NM_001004695		Approved		uc010pzi.2	Q8NG76	OTTHUMG00000040458	ENST00000318021.2:c.590T>G	1.37:g.248436527A>C	ENSP00000324687:p.Met197Arg		B2RNN0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.M197R	ENST00000318021.2	37	c.590	CCDS31109.1	1	.	.	.	.	.	.	.	.	.	.	-	6.229	0.410415	0.11812	.	.	ENSG00000177212	ENST00000318021	T	0.00130	8.69	1.86	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.00300	0.0009	M	0.73962	2.25	0.09310	N	1	P	0.52577	0.954	P	0.62491	0.903	T	0.40701	-0.9549	10	0.72032	D	0.01	.	4.1216	0.10108	0.687:0.0:0.0:0.3129	.	197	Q8NG76	O2T33_HUMAN	R	197	ENSP00000324687:M197R	ENSP00000324687:M197R	M	-	2	0	OR2T33	246503150	0.000000	0.05858	0.548000	0.28192	0.134000	0.20937	-0.401000	0.07232	1.098000	0.41479	0.404000	0.27445	ATG	OR2T33	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000177212		0.522	OR2T33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T33	HGNC	protein_coding	OTTHUMT00000097354.1	28	0.00	0	A	NM_001004695		248436527	248436527	-1	no_errors	ENST00000318021	ensembl	human	known	69_37n	missense	72	16.28	14	SNP	0.018	C
PFDN4	5203	genome.wustl.edu	37	20	52835691	52835691	+	3'UTR	SNP	C	C	T			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr20:52835691C>T	ENST00000371419.2	+	0	661				PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4						'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GAAAGTTAAACATTTTATAAT	0.284																																						dbGAP											0													31.0	33.0	32.0					20																	52835691		2198	4295	6493	-	-	-	SO:0001624	3_prime_UTR_variant	0			U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"""prefoldin 4"""			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.*2C>T	20.37:g.52835691C>T			Q5TD11|Q92779	RNA	SNP	-	NULL	ENST00000371419.2	37	NULL	CCDS13445.1	20																																																																																			PFDN4	-	-	ENSG00000101132		0.284	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFDN4	HGNC	protein_coding	OTTHUMT00000079771.2	45	0.00	0	C	NM_002623		52835691	52835691	+1	no_errors	ENST00000487129	ensembl	human	known	69_37n	rna	54	14.29	9	SNP	0.202	T
PIK3CA	5290	genome.wustl.edu	37	3	178922328	178922328	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr3:178922328C>G	ENST00000263967.3	+	6	1254	c.1097C>G	c.(1096-1098)cCc>cGc	p.P366R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	366	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GGAGGAGAACCCTTATGTGAC	0.353		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0													227.0	185.0	198.0					3																	178922328		1844	4096	5940	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1097C>G	3.37:g.178922328C>G	ENSP00000263967:p.Pro366Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P366R	ENST00000263967.3	37	c.1097	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729802	0.48833	.	.	ENSG00000121879	ENST00000263967	T	0.77489	-1.1	5.53	5.53	0.82687	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.109140	0.64402	D	0.000004	T	0.75228	0.3821	L	0.58583	1.82	0.58432	D	0.999993	B	0.21147	0.052	B	0.20384	0.029	T	0.69914	-0.5016	10	0.16420	T	0.52	-18.0931	19.431	0.94765	0.0:1.0:0.0:0.0	.	366	P42336	PK3CA_HUMAN	R	366	ENSP00000263967:P366R	ENSP00000263967:P366R	P	+	2	0	PIK3CA	180405022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.578000	0.53892	2.600000	0.87896	0.655000	0.94253	CCC	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	38	0.00	0	C			178922328	178922328	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	38	20.83	10	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178948044	178948044	+	Missense_Mutation	SNP	A	A	G			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr3:178948044A>G	ENST00000263967.3	+	20	2973	c.2816A>G	c.(2815-2817)gAt>gGt	p.D939G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	939	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.D939G(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CACTTTTTGGATCACAAGAAG	0.294		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	2	Substitution - Missense(2)	endometrium(2)											64.0	63.0	63.0					3																	178948044		1796	4071	5867	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2816A>G	3.37:g.178948044A>G	ENSP00000263967:p.Asp939Gly		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D939G	ENST00000263967.3	37	c.2816	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	7.194	0.592088	0.13812	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	5.29	5.29	0.74685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	N	0.00633	-1.31	0.80722	D	1	B	0.12630	0.006	B	0.15484	0.013	T	0.58923	-0.7550	10	0.02654	T	1	-19.7113	15.2115	0.73227	1.0:0.0:0.0:0.0	.	939	P42336	PK3CA_HUMAN	G	939	ENSP00000263967:D939G	ENSP00000263967:D939G	D	+	2	0	PIK3CA	180430738	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.859000	0.92264	1.990000	0.58119	0.477000	0.44152	GAT	PIK3CA	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.294	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	31	0.00	0	A			178948044	178948044	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	30	18.92	7	SNP	1.000	G
TSHR	7253	genome.wustl.edu	37	14	81609335	81609335	+	Missense_Mutation	SNP	G	G	C			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr14:81609335G>C	ENST00000541158.2	+	11	1255	c.933G>C	c.(931-933)caG>caC	p.Q311H	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.Q311H			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	311					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCTTGCGCCAGAGAAAATCTG	0.498			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																															dbGAP	yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													128.0	124.0	125.0					14																	81609335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.933G>C	14.37:g.81609335G>C	ENSP00000441235:p.Gln311His		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_TSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_FSH_rcpt,prints_LSH_rcpt	p.Q311H	ENST00000541158.2	37	c.933	CCDS9872.1	14	.	.	.	.	.	.	.	.	.	.	G	8.954	0.968850	0.18659	.	.	ENSG00000165409	ENST00000541158;ENST00000298171	T;T	0.75367	-0.93;-0.93	6.08	1.95	0.26073	.	0.501251	0.25402	N	0.030924	T	0.55033	0.1895	N	0.22421	0.69	0.40715	D	0.982608	B	0.13145	0.007	B	0.13407	0.009	T	0.41305	-0.9516	10	0.33141	T	0.24	.	6.0048	0.19541	0.0635:0.3076:0.4283:0.2005	.	311	F5GYU5	.	H	311	ENSP00000441235:Q311H;ENSP00000298171:Q311H	ENSP00000298171:Q311H	Q	+	3	2	TSHR	80679088	0.996000	0.38824	0.998000	0.56505	0.990000	0.78478	0.280000	0.18790	0.423000	0.26033	-0.165000	0.13383	CAG	TSHR	-	prints_TSH_rcpt	ENSG00000165409		0.498	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHR	HGNC	protein_coding	OTTHUMT00000413364.1	19	0.00	0	G	NM_000369		81609335	81609335	+1	no_errors	ENST00000298171	ensembl	human	known	69_37n	missense	12	33.33	6	SNP	0.981	C
UAP1L1	91373	genome.wustl.edu	37	9	139977163	139977163	+	Silent	SNP	G	G	A	rs551982003	byFrequency	TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr9:139977163G>A	ENST00000409858.3	+	9	1538	c.1506G>A	c.(1504-1506)ccG>ccA	p.P502P	UAP1L1_ENST00000360271.3_Silent_p.P379P	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	502							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCAGGGAGCCGCAGCTGCAGG	0.662													G|||	2	0.000399361	0.0	0.0	5008	,	,		13991	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													38.0	37.0	37.0					9																	139977163		2119	4121	6240	-	-	-	SO:0001819	synonymous_variant	0			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1506G>A	9.37:g.139977163G>A			A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP	pfam_UDPGP_trans	p.P502	ENST00000409858.3	37	c.1506	CCDS7028.2	9																																																																																			UAP1L1	-	NULL	ENSG00000197355		0.662	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UAP1L1	HGNC	protein_coding	OTTHUMT00000055216.2	62	0.00	0	G	XM_038063		139977163	139977163	+1	no_errors	ENST00000409858	ensembl	human	known	69_37n	silent	58	26.58	21	SNP	0.000	A
UTRN	7402	genome.wustl.edu	37	6	144843127	144843127	+	Missense_Mutation	SNP	T	T	G			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chr6:144843127T>G	ENST00000367545.3	+	39	5553	c.5553T>G	c.(5551-5553)atT>atG	p.I1851M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1851					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAATCCCTATTCAACAGAGGA	0.299																																						dbGAP											0													101.0	105.0	104.0					6																	144843127		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.5553T>G	6.37:g.144843127T>G	ENSP00000356515:p.Ile1851Met		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.I1851M	ENST00000367545.3	37	c.5553	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	T	2.764	-0.257261	0.05791	.	.	ENSG00000152818	ENST00000367545	T	0.42131	0.98	5.43	1.51	0.23008	.	0.889113	0.09545	N	0.787708	T	0.09555	0.0235	N	0.22421	0.69	0.24779	N	0.992825	B	0.27117	0.168	B	0.20384	0.029	T	0.27226	-1.0080	10	0.40728	T	0.16	.	3.5814	0.07955	0.1715:0.3526:0.0:0.476	.	1851	P46939	UTRO_HUMAN	M	1851	ENSP00000356515:I1851M	ENSP00000356515:I1851M	I	+	3	3	UTRN	144884820	0.040000	0.19996	0.156000	0.22583	0.101000	0.19017	0.334000	0.19787	0.372000	0.24591	0.459000	0.35465	ATT	UTRN	-	pirsf_Dystrophin/utrophin	ENSG00000152818		0.299	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	15	0.00	0	T			144843127	144843127	+1	no_errors	ENST00000367545	ensembl	human	known	69_37n	missense	18	26.92	7	SNP	0.147	G
VSIG4	11326	genome.wustl.edu	37	X	65241995	65241995	+	3'UTR	SNP	G	G	A			TCGA-OL-A5RX-01A-11D-A28B-09	TCGA-OL-A5RX-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	122e2093-6f49-473d-a23b-aa7913bfbc9f	e8ded17f-7468-4657-aabd-21f759487ce5	g.chrX:65241995G>A	ENST00000374737.4	-	0	1418				VSIG4_ENST00000455586.2_3'UTR|VSIG4_ENST00000412866.2_3'UTR	NM_001257403.1|NM_007268.2	NP_001244332.1|NP_009199.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway (GO:0006957)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTGTTGGTAGGCGGACACTTT	0.542																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AJ132502	CCDS14383.1, CCDS48132.1, CCDS55435.1	Xq12-q13.3	2013-01-29			ENSG00000155659	ENSG00000155659		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17032	protein-coding gene	gene with protein product		300353				10899594, 11004523, 17016555, 17016562	Standard	NM_007268		Approved	Z39IG	uc004dwh.2	Q9Y279	OTTHUMG00000021727	ENST00000374737.4:c.*110C>T	X.37:g.65241995G>A			Q6UXI4	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A252V	ENST00000374737.4	37	c.755	CCDS14383.1	X	.	.	.	.	.	.	.	.	.	.	G	8.805	0.933787	0.18206	.	.	ENSG00000155659	ENST00000427538	.	.	.	3.87	-0.52	0.11935	.	.	.	.	.	T	0.18593	0.0446	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.22417	-1.0217	4	.	.	.	.	0.2204	0.00167	0.3067:0.2037:0.2797:0.2099	.	.	.	.	V	252	.	.	A	-	2	0	VSIG4	65158720	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.291000	0.08343	-0.214000	0.10078	0.513000	0.50165	GCC	VSIG4	-	NULL	ENSG00000155659		0.542	VSIG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VSIG4	HGNC	protein_coding	OTTHUMT00000056986.1	48	0.00	0	G	NM_007268		65241995	65241995	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000427538	ensembl	human	known	69_37n	missense	66	16.46	13	SNP	0.000	A
