#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
AQP12A	375318	genome.wustl.edu	37	2	241631413	241631413	+	Missense_Mutation	SNP	T	T	G	rs71428454	byFrequency	TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr2:241631413T>G	ENST00000337801.4	+	1	152	c.83T>G	c.(82-84)cTg>cGg	p.L28R	AQP12A_ENST00000429564.1_Missense_Mutation_p.L28R|AC011298.2_ENST00000407635.2_lincRNA	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	28						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TCCAAGGCCCTGCTCCCAGTG	0.692													t|||	1001	0.19988	0.1989	0.3242	5008	,	,		17103	0.0357		0.3519	False		,,,				2504	0.1258					dbGAP											0													40.0	47.0	45.0					2																	241631413		2180	4285	6465	-	-	-	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.83T>G	2.37:g.241631413T>G	ENSP00000337144:p.Leu28Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.L28R	ENST00000337801.4	37	c.83		2	457|457	0.20924908424908426|0.20924908424908426	95|95	0.19308943089430894|0.19308943089430894	110|110	0.30386740331491713|0.30386740331491713	18|18	0.03146853146853147|0.03146853146853147	234|234	0.3087071240105541|0.3087071240105541	.|.	3.061|3.061	-0.193201|-0.193201	0.06259|0.06259	.|.	.|.	ENSG00000184945|ENSG00000184945	ENST00000420599|ENST00000337801;ENST00000429564	.|T;T	.|0.11385	.|2.78;2.78	2.43|2.43	2.43|2.43	0.29744|0.29744	.|.	.|0.166965	.|0.42682	.|D	.|0.000664	T|T	0.00012|0.00012	0.0000|0.0000	M|M	0.62723|0.62723	1.935|1.935	0.25432|0.25432	P|P	0.9881739|0.9881739	.|D	.|0.67145	.|0.996	.|P	.|0.57548	.|0.823	T|T	0.38457|0.38457	-0.9660|-0.9660	5|9	0.87932|0.66056	D|D	0|0.02	-20.1652|-20.1652	8.4076|8.4076	0.32625|0.32625	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|28	.|Q8IXF9	.|AQ12A_HUMAN	G|R	1|28	.|ENSP00000337144:L28R;ENSP00000405899:L28R	ENSP00000399666:C1G|ENSP00000337144:L28R	C|L	+|+	1|2	0|0	AQP12A|AQP12A	241280086|241280086	0.134000|0.134000	0.22483|0.22483	0.878000|0.878000	0.34440|0.34440	0.334000|0.334000	0.28698|0.28698	1.538000|1.538000	0.36094|0.36094	1.134000|1.134000	0.42165|0.42165	0.156000|0.156000	0.16432|0.16432	TGC|CTG	AQP12A	-	pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000184945		0.692	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	8	0.00	0	T	NM_198998		241631413	241631413	+1	no_errors	ENST00000429564	ensembl	human	known	69_37n	missense	52	33.75	27	SNP	0.987	G
GAS8	2622	genome.wustl.edu	37	16	90095597	90095597	+	Intron	SNP	T	T	C	rs61118444|rs71137702	byFrequency	TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr16:90095597T>C	ENST00000268699.4	+	2	212				C16orf3_ENST00000408886.2_Missense_Mutation_p.I52V|GAS8_ENST00000540721.1_Intron|GAS8_ENST00000536122.1_Intron	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8						cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)				endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		gggcaggctatggggcagcct	0.662													t|||	2317	0.46266	0.3767	0.4611	5008	,	,		15322	0.63		0.3757	False		,,,				2504	0.4969					dbGAP											0													20.0	23.0	22.0					16																	90095597		2197	4299	6496	-	-	-	SO:0001627	intron_variant	0			AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.90+1467T>C	16.37:g.90095597T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	NULL	p.I52V	ENST00000268699.4	37	c.154	CCDS10992.1	16	.	.	.	.	.	.	.	.	.	.	t	0.096	-1.158920	0.01686	.	.	ENSG00000221819	ENST00000408886	T	0.47177	0.85	.	.	.	.	.	.	.	.	T	0.17408	0.0418	N	0.08118	0	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.14117	-1.0484	5	.	.	.	.	.	.	.	rs61118444;rs62640378	60	O95177	CP003_HUMAN	V	52	ENSP00000386218:I52V	.	I	-	1	0	C16orf3	88623098	0.005000	0.15991	0.000000	0.03702	0.009000	0.06853	-2.049000	0.01405	-2.579000	0.00463	-1.976000	0.00459	ATA	C16orf3	-	NULL	ENSG00000221819		0.662	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf3	HGNC	protein_coding	OTTHUMT00000272877.2	12	0.00	0	T			90095597	90095597	-1	no_errors	ENST00000408886	ensembl	human	known	69_37n	missense	8	47.06	8	SNP	0.000	C
CLSPN	63967	genome.wustl.edu	37	1	36204752	36204752	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr1:36204752G>A	ENST00000318121.3	-	20	3472	c.3415C>T	c.(3415-3417)Cga>Tga	p.R1139*	CLSPN_ENST00000520551.1_Nonsense_Mutation_p.R1086*|CLSPN_ENST00000373220.3_Nonsense_Mutation_p.R1075*|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000466308.1_5'Flank|CLSPN_ENST00000251195.5_Nonsense_Mutation_p.R1139*	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1139					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTTTTCCATCGAAACTTCCTC	0.473																																						dbGAP											0													89.0	83.0	85.0					1																	36204752		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3415C>T	1.37:g.36204752G>A	ENSP00000312995:p.Arg1139*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Nonsense_Mutation	SNP	NULL	p.R1139*	ENST00000318121.3	37	c.3415	CCDS396.1	1	.	.	.	.	.	.	.	.	.	.	G	42	9.698051	0.99241	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	.	.	.	5.92	4.98	0.66077	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7074	13.2086	0.59811	0.0:0.0:0.5659:0.4341	.	.	.	.	X	1139;1139;1075;1086	.	ENSP00000251195:R1139X	R	-	1	2	CLSPN	35977339	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.408000	0.59761	1.460000	0.47911	0.644000	0.83932	CGA	CLSPN	-	NULL	ENSG00000092853		0.473	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSPN	HGNC	protein_coding	OTTHUMT00000377857.1	53	0.00	0	G	NM_022111		36204752	36204752	-1	no_errors	ENST00000318121	ensembl	human	known	69_37n	nonsense	48	36.84	28	SNP	1.000	A
COL9A2	1298	genome.wustl.edu	37	1	40778134	40778134	+	Silent	SNP	T	T	A			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr1:40778134T>A	ENST00000372748.3	-	7	453	c.357A>T	c.(355-357)ggA>ggT	p.G119G		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	119	Triple-helical region 4 (COL4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TTACAGGAGGTCCAGCAAAAC	0.582																																						dbGAP											0													50.0	46.0	47.0					1																	40778134		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.357A>T	1.37:g.40778134T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMP9	Missense_Mutation	SNP	pfam_Collagen	p.T108S	ENST00000372748.3	37	c.322	CCDS450.1	1	.	.	.	.	.	.	.	.	.	.	.	11.53	1.665688	0.29604	.	.	ENSG00000049089	ENST00000417105	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.63896	0.2550	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62996	-0.6735	4	.	.	.	.	11.8296	0.52288	0.0:0.0:0.0:1.0	.	.	.	.	S	108	.	.	T	-	1	0	COL9A2	40550721	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.574000	0.23714	2.048000	0.60808	0.533000	0.62120	ACC	COL9A2	-	pfam_Collagen	ENSG00000049089		0.582	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	79	0.00	0	T	NM_001852		40778134	40778134	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000417105	ensembl	human	putative	69_37n	missense	52	42.86	39	SNP	1.000	A
CPLX2	10814	genome.wustl.edu	37	5	175307021	175307021	+	Silent	SNP	G	G	A			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr5:175307021G>A	ENST00000359546.4	+	5	1021	c.378G>A	c.(376-378)ggG>ggA	p.G126G	CPLX2_ENST00000515094.1_Silent_p.G126G|CPLX2_ENST00000393745.3_Silent_p.G126G	NM_001008220.1|NM_006650.3	NP_001008221.1|NP_006641.1	Q6PUV4	CPLX2_HUMAN	complexin 2	126					cell differentiation (GO:0030154)|mast cell degranulation (GO:0043303)|nervous system development (GO:0007399)|positive regulation of synaptic plasticity (GO:0031915)|regulation of exocytosis (GO:0017157)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking involved in exocytosis (GO:0006904)	dendrite (GO:0030425)|mast cell granule (GO:0042629)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTGCCCGGGCCGCTGCAGG	0.562																																						dbGAP											0													45.0	46.0	46.0					5																	175307021		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U35100	CCDS4396.1	5q35.2	2008-05-23			ENSG00000145920	ENSG00000145920			2310	protein-coding gene	gene with protein product		605033				7553862, 16162394	Standard	XM_005265798		Approved	CPX-2, DKFZp547D155	uc003mdf.1	Q6PUV4	OTTHUMG00000130665	ENST00000359546.4:c.378G>A	5.37:g.175307021G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAG2|O09056|Q13329|Q28184|Q52M15|Q64386	Silent	SNP	pfam_Synaphin	p.G126	ENST00000359546.4	37	c.378	CCDS4396.1	5	.	.	.	.	.	.	.	.	.	.	g	8.834	0.940699	0.18281	.	.	ENSG00000145920	ENST00000393746	.	.	.	5.26	0.182	0.15077	.	.	.	.	.	T	0.59074	0.2167	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57596	-0.7784	5	0.87932	D	0	.	5.2691	0.15615	0.4081:0.1388:0.4531:0.0	.	.	.	.	T	108	.	ENSP00000377347:A108T	A	+	1	0	CPLX2	175239627	0.943000	0.32029	0.939000	0.37840	0.996000	0.88848	0.105000	0.15333	-0.023000	0.13963	0.454000	0.30748	GCC	CPLX2	-	pfam_Synaphin	ENSG00000145920		0.562	CPLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPLX2	HGNC	protein_coding	OTTHUMT00000253157.2	37	0.00	0	G			175307021	175307021	+1	no_errors	ENST00000359546	ensembl	human	known	69_37n	silent	32	44.07	26	SNP	0.998	A
DCLRE1A	9937	genome.wustl.edu	37	10	115607027	115607027	+	Silent	SNP	T	T	C			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr10:115607027T>C	ENST00000361384.2	-	3	3110	c.2193A>G	c.(2191-2193)acA>acG	p.T731T	DCLRE1A_ENST00000369305.1_Silent_p.T731T	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	731					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AATGAAAATGTGTGAGAAAAT	0.383								Other identified genes with known or suspected DNA repair function																														dbGAP											0													108.0	101.0	104.0					10																	115607027		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2193A>G	10.37:g.115607027T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	pfam_DRMBL	p.T731	ENST00000361384.2	37	c.2193	CCDS7584.1	10																																																																																			DCLRE1A	-	NULL	ENSG00000198924		0.383	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	50	0.00	0	T	NM_014881		115607027	115607027	-1	no_errors	ENST00000361384	ensembl	human	known	69_37n	silent	40	39.71	27	SNP	0.996	C
DIRC2	84925	genome.wustl.edu	37	3	122578962	122578964	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr3:122578962_122578964delCTC	ENST00000261038.5	+	7	1449_1451	c.1051_1053delCTC	c.(1051-1053)ctcdel	p.L353del		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	353					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		ACTAATTCTTCTCCTCCTGTTTT	0.394																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.1051_1053delCTC	3.37:g.122578965_122578967delCTC	ENSP00000261038:p.Leu353del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K561|Q8NBX9	In_Frame_Del	DEL	superfamily_MFS_dom_general_subst_transpt	p.L353in_frame_del	ENST00000261038.5	37	c.1051_1053	CCDS3018.1	3																																																																																			DIRC2	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000138463		0.394	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	101	0.00	0	CTC	NM_032839		122578962	122578964	+1	no_errors	ENST00000261038	ensembl	human	known	69_37n	in_frame_del	71	37.17	42	DEL	1.000:1.000:1.000	-
ENPP2	5168	genome.wustl.edu	37	8	120598499	120598499	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr8:120598499G>A	ENST00000075322.6	-	15	1352	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	ENPP2_ENST00000259486.6_Missense_Mutation_p.R484C|ENPP2_ENST00000522167.1_Missense_Mutation_p.R71C|ENPP2_ENST00000522826.1_Missense_Mutation_p.R432C|ENPP2_ENST00000427067.2_Missense_Mutation_p.R428C	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	432					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TAGTGCAAACGTTTGGGAAGG	0.393																																					Melanoma(20;305 879 2501 4818 31020)	dbGAP											0													211.0	183.0	192.0					8																	120598499		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1294C>T	8.37:g.120598499G>A	ENSP00000075322:p.Arg432Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.R484C	ENST00000075322.6	37	c.1450	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126809	0.77549	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21;-1.21	5.64	5.64	0.86602	Alkaline-phosphatase-like, core domain (1);	0.099263	0.64402	D	0.000003	D	0.90356	0.6982	M	0.92784	3.345	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;1.0	D;D;D;D	0.78314	0.976;0.991;0.96;0.991	D	0.92173	0.5745	10	0.87932	D	0	.	14.5174	0.67827	0.0:0.0:0.8533:0.1466	.	432;432;484;71	E9PHP7;Q13822;Q13822-2;E5RIA2	.;ENPP2_HUMAN;.;.	C	484;428;71;432;432	ENSP00000259486:R484C;ENSP00000403315:R428C;ENSP00000429476:R71C;ENSP00000428291:R432C;ENSP00000075322:R432C	ENSP00000075322:R432C	R	-	1	0	ENPP2	120667680	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.256000	0.72473	2.660000	0.90430	0.555000	0.69702	CGT	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000136960		0.393	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	170	0.00	0	G			120598499	120598499	-1	no_errors	ENST00000259486	ensembl	human	known	69_37n	missense	194	29.45	81	SNP	1.000	A
GPR113	165082	genome.wustl.edu	37	2	26533779	26533779	+	Silent	SNP	C	C	T			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr2:26533779C>T	ENST00000311519.1	-	11	2816	c.2817G>A	c.(2815-2817)gtG>gtA	p.V939V	GPR113_ENST00000421160.2_Silent_p.V870V|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.V542V|GPR113_ENST00000333478.6_Silent_p.V740V	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	939					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAGCCCATTCACGCCTATGA	0.592																																						dbGAP											0													58.0	51.0	53.0					2																	26533779		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2817G>A	2.37:g.26533779C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.V740	ENST00000311519.1	37	c.2220	CCDS46239.1	2																																																																																			GPR113	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000173567		0.592	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	GPR113	HGNC	protein_coding	OTTHUMT00000316892.1	26	0.00	0	C	NM_153835		26533779	26533779	-1	no_errors	ENST00000333478	ensembl	human	known	69_37n	silent	13	58.06	18	SNP	0.457	T
GRIK1	2897	genome.wustl.edu	37	21	30909667	30909667	+	Missense_Mutation	SNP	A	A	G			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr21:30909667A>G	ENST00000389125.3	-	16	2726	c.2602T>C	c.(2602-2604)Tca>Cca	p.S868P	GRIK1_ENST00000535441.1_Missense_Mutation_p.S885P|GRIK1_ENST00000399914.1_Missense_Mutation_p.S897P|GRIK1_ENST00000399913.1_Missense_Mutation_p.S883P|GRIK1_ENST00000327783.4_Missense_Mutation_p.S912P	NM_175611.2	NP_783300.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTCTTCAGTGAGATTCCCAGT	0.398																																						dbGAP											0													57.0	55.0	56.0					21																	30909667		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000389125.3:c.2602T>C	21.37:g.30909667A>G	ENSP00000373777:p.Ser868Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S885P	ENST00000389125.3	37	c.2653	CCDS33530.1	21	.	.	.	.	.	.	.	.	.	.	A	16.72	3.202508	0.58234	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508	T;T;T;T;T	0.16597	2.33;2.7;2.7;2.36;2.7	4.55	3.4	0.38934	.	2.894070	0.00760	N	0.001135	T	0.36936	0.0985	L	0.41824	1.3	0.80722	D	1	D;D;D	0.76494	0.992;0.998;0.999	D;D;D	0.83275	0.917;0.991;0.996	T	0.01566	-1.1323	10	0.44086	T	0.13	.	10.4825	0.44702	0.9212:0.0:0.0788:0.0	.	897;883;868	E7EPY9;E9PD61;P39086-2	.;.;.	P	912;868;883;897;885;744	ENSP00000327687:S912P;ENSP00000373777:S868P;ENSP00000382797:S883P;ENSP00000382798:S897P;ENSP00000446326:S885P	ENSP00000327687:S912P	S	-	1	0	GRIK1	29831538	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.593000	0.61034	1.076000	0.40961	0.397000	0.26171	TCA	GRIK1	-	NULL	ENSG00000171189		0.398	GRIK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171978.1	43	0.00	0	A			30909667	30909667	-1	no_errors	ENST00000535441	ensembl	human	known	69_37n	missense	39	37.10	23	SNP	1.000	G
KIF9	64147	genome.wustl.edu	37	3	47308543	47308543	+	Missense_Mutation	SNP	A	A	C			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr3:47308543A>C	ENST00000265529.3	-	8	1371	c.691T>G	c.(691-693)Tta>Gta	p.L231V	KIF9_ENST00000335044.2_Missense_Mutation_p.L231V|KIF9_ENST00000352910.4_Missense_Mutation_p.L138V|KIF9_ENST00000452770.2_Missense_Mutation_p.L231V|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000444589.2_Missense_Mutation_p.L231V			Q9HAQ2	KIF9_HUMAN	kinesin family member 9	231	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCTCTGATAAGGTCCGGGAA	0.527																																					Colon(44;962 1147 15977 24541)	dbGAP											0													112.0	112.0	112.0					3																	47308543		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.691T>G	3.37:g.47308543A>C	ENSP00000265529:p.Leu231Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86Z28|Q9H8A4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L231V	ENST00000265529.3	37	c.691	CCDS2752.1	3	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759031	0.69763	.	.	ENSG00000088727	ENST00000335044;ENST00000265529;ENST00000444589;ENST00000452770;ENST00000352910;ENST00000456548	T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.86	5.93	4.79	0.61399	Kinesin, motor domain (4);	0.081085	0.49305	D	0.000150	T	0.59742	0.2216	N	0.21448	0.665	0.36016	D	0.838418	P;P	0.37423	0.594;0.475	P;B	0.44696	0.458;0.222	T	0.61237	-0.7103	10	0.13108	T	0.6	.	3.681	0.08310	0.6903:0.0:0.1374:0.1722	.	231;231	Q9HAQ2-2;Q9HAQ2	.;KIF9_HUMAN	V	231;231;231;231;138;156	ENSP00000333942:L231V;ENSP00000265529:L231V;ENSP00000414987:L231V;ENSP00000391100:L231V;ENSP00000292334:L138V;ENSP00000387959:L156V	ENSP00000265529:L231V	L	-	1	2	KIF9	47283547	0.723000	0.28027	1.000000	0.80357	0.878000	0.50629	1.011000	0.29911	2.265000	0.75225	0.533000	0.62120	TTA	KIF9	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	ENSG00000088727		0.527	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9	HGNC	protein_coding	OTTHUMT00000257475.2	96	0.00	0	A			47308543	47308543	-1	no_errors	ENST00000265529	ensembl	human	known	69_37n	missense	45	42.31	33	SNP	0.992	C
LPA	4018	genome.wustl.edu	37	6	160962167	160962167	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr6:160962167C>G	ENST00000316300.5	-	35	5610	c.5566G>C	c.(5566-5568)Gtg>Ctg	p.V1856L	LPA_ENST00000447678.1_Missense_Mutation_p.V1856L			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4364	Kringle 17. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCAGTCAGCACCCACTCTGGG	0.453																																						dbGAP											0													93.0	98.0	96.0					6																	160962167		2203	4300	6503	-	-	-	SO:0001583	missense	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5566G>C	6.37:g.160962167C>G	ENSP00000321334:p.Val1856Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.V1856L	ENST00000316300.5	37	c.5566	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	c	11.91	1.778697	0.31502	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.89123	-2.47;-2.47	3.05	3.05	0.35203	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.90219	0.6942	M	0.62266	1.93	0.51233	D	0.999911	P	0.51449	0.945	D	0.63283	0.913	D	0.90955	0.4808	9	0.72032	D	0.01	.	11.9526	0.52964	0.0:1.0:0.0:0.0	.	4364	P08519	APOA_HUMAN	L	1856	ENSP00000321334:V1856L;ENSP00000395608:V1856L	ENSP00000321334:V1856L	V	-	1	0	LPA	160882157	1.000000	0.71417	1.000000	0.80357	0.365000	0.29674	6.199000	0.72112	1.539000	0.49286	0.205000	0.17691	GTG	LPA	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	ENSG00000198670		0.453	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1	62	0.00	0	C	NM_005577		160962167	160962167	-1	no_errors	ENST00000316300	ensembl	human	known	69_37n	missense	54	40.00	36	SNP	1.000	G
LPCAT4	254531	genome.wustl.edu	37	15	34654803	34654803	+	Nonsense_Mutation	SNP	A	A	T			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr15:34654803A>T	ENST00000314891.6	-	9	1032	c.855T>A	c.(853-855)taT>taA	p.Y285*	LPCAT4_ENST00000562431.1_5'Flank	NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	285					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CATTGTTGGCATAGAGGGTGG	0.542																																						dbGAP											0													70.0	68.0	69.0					15																	34654803		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0			AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.855T>A	15.37:g.34654803A>T	ENSP00000317300:p.Tyr285*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Nonsense_Mutation	SNP	pfam_Acyltransferase,smart_Acyltransferase	p.Y285*	ENST00000314891.6	37	c.855	CCDS32191.1	15	.	.	.	.	.	.	.	.	.	.	A	38	6.767685	0.97825	.	.	ENSG00000176454	ENST00000314891	.	.	.	5.43	3.07	0.35406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7797	9.2265	0.37410	0.8494:0.0:0.1506:0.0	.	.	.	.	X	285	.	ENSP00000317300:Y285X	Y	-	3	2	LPCAT4	32442095	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.967000	0.40491	0.345000	0.23873	0.482000	0.46254	TAT	LPCAT4	-	NULL	ENSG00000176454		0.542	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	HGNC	protein_coding	OTTHUMT00000418028.2	35	0.00	0	A	NM_153613		34654803	34654803	-1	no_errors	ENST00000314891	ensembl	human	known	69_37n	nonsense	19	54.76	23	SNP	1.000	T
MC2R	4158	genome.wustl.edu	37	18	13884764	13884764	+	Missense_Mutation	SNP	C	C	T	rs554966392	byFrequency	TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr18:13884764C>T	ENST00000327606.3	-	2	934	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	252					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATGTAGCAGGCGCAGTAGGGG	0.537													C|||	6	0.00119808	0.0	0.0	5008	,	,		24291	0.006		0.0	False		,,,				2504	0.0				Colon(141;1584 1782 35999 48227 48692)	dbGAP											0													90.0	82.0	85.0					18																	13884764		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.754G>A	18.37:g.13884764C>T	ENSP00000333821:p.Ala252Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K016|Q3MI45|Q504X6	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_7TM_GPCR_Rhodpsn	p.A252T	ENST00000327606.3	37	c.754	CCDS11869.1	18	.	.	.	.	.	.	.	.	.	.	C	3.681	-0.065501	0.07273	.	.	ENSG00000185231	ENST00000327606;ENST00000399821	T	0.36878	1.23	5.06	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.331114	0.32134	N	0.006524	T	0.13970	0.0338	N	0.04746	-0.17	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.29640	-1.0005	10	0.02654	T	1	.	9.0936	0.36625	0.0:0.7665:0.0:0.2335	.	252	Q01718	ACTHR_HUMAN	T	252	ENSP00000333821:A252T	ENSP00000333821:A252T	A	-	1	0	MC2R	13874764	0.430000	0.25538	0.694000	0.30210	0.718000	0.41266	1.688000	0.37690	1.129000	0.42072	0.655000	0.94253	GCC	MC2R	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt	ENSG00000185231		0.537	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC2R	HGNC	protein_coding	OTTHUMT00000254639.2	48	0.00	0	C			13884764	13884764	-1	no_errors	ENST00000327606	ensembl	human	known	69_37n	missense	3	90.32	28	SNP	0.121	T
MDGA1	266727	genome.wustl.edu	37	6	37619916	37619916	+	Missense_Mutation	SNP	C	C	G	rs373379741		TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr6:37619916C>G	ENST00000434837.3	-	7	2361	c.1183G>C	c.(1183-1185)Gca>Cca	p.A395P	MDGA1_ENST00000297153.7_Missense_Mutation_p.A395P|MDGA1_ENST00000505425.1_Missense_Mutation_p.A395P	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	395	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGGTGACTGCGGGCAGCTCA	0.602																																						dbGAP											0													56.0	60.0	59.0					6																	37619916		2034	4177	6211	-	-	-	SO:0001583	missense	0			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1183G>C	6.37:g.37619916C>G	ENSP00000402584:p.Ala395Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.A395P	ENST00000434837.3	37	c.1183	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	C	7.634	0.679463	0.14907	.	.	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.55413	0.52;0.68;0.54	5.36	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134588	0.33753	N	0.004596	T	0.10380	0.0254	N	0.02802	-0.49	0.47094	D	0.999311	B	0.11235	0.004	B	0.13407	0.009	T	0.22591	-1.0212	10	0.02654	T	1	.	12.5893	0.56434	0.0:0.6721:0.3279:0.0	.	395	Q8NFP4	MDGA1_HUMAN	P	395	ENSP00000402584:A395P;ENSP00000297153:A395P;ENSP00000422042:A395P	ENSP00000297153:A395P	A	-	1	0	MDGA1	37727894	1.000000	0.71417	0.632000	0.29296	0.753000	0.42808	5.758000	0.68776	2.524000	0.85096	0.655000	0.94253	GCA	MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000112139		0.602	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	43	0.00	0	C			37619916	37619916	-1	no_errors	ENST00000297153	ensembl	human	known	69_37n	missense	13	45.83	11	SNP	0.996	G
KMT2C	58508	genome.wustl.edu	37	7	152009002	152009002	+	Frame_Shift_Del	DEL	G	G	-	rs138740890		TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr7:152009002delG	ENST00000262189.6	-	5	838	c.620delC	c.(619-621)tctfs	p.S207fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.S207fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	207					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)										ACTTACACAAGATACTATATT	0.363																																						dbGAP											0													119.0	113.0	115.0					7																	152009002		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	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.620delC	7.37:g.152009002delG	ENSP00000262189:p.Ser207fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	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.S207fs	ENST00000262189.6	37	c.620	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	38	0.00	0	G			152009002	152009002	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	16	60.00	30	DEL	0.932	-
MNT	4335	genome.wustl.edu	37	17	2291304	2291304	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr17:2291304C>G	ENST00000174618.4	-	5	1252	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	RP1-59D14.1_ENST00000571775.1_RNA|MNT_ENST00000575394.1_3'UTR|MNT_ENST00000575374.1_5'UTR	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor	283	Leucine-zipper.				cell aging (GO:0007569)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cell cycle (GO:0051726)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GCCAGCCGCTCCATTTCATGC	0.592																																						dbGAP											0													56.0	43.0	47.0					17																	2291304		2201	4291	6492	-	-	-	SO:0001583	missense	0			Y13444	CCDS11018.1	17p13.3	2013-11-15	2013-11-15		ENSG00000070444	ENSG00000070444		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7188	protein-coding gene	gene with protein product	"""myc antagonist"", ""Max-interacting protein"""	603039	"""MAX binding protein"", ""MNT, MAX dimerization protein"""			9598315	Standard	NM_020310		Approved	ROX, MXD6, MAD6, bHLHd3	uc002fur.3	Q99583	OTTHUMG00000090603	ENST00000174618.4:c.847G>C	17.37:g.2291304C>G	ENSP00000174618:p.Glu283Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6D1|D3DTI7|Q1ED38	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.E283Q	ENST00000174618.4	37	c.847	CCDS11018.1	17	.	.	.	.	.	.	.	.	.	.	C	13.83	2.353803	0.41700	.	.	ENSG00000070444	ENST00000174618;ENST00000404961	D	0.98567	-5.0	4.16	4.16	0.48862	Helix-loop-helix DNA-binding (2);	0.138020	0.47455	D	0.000231	D	0.98617	0.9537	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.99342	1.0912	10	0.54805	T	0.06	-13.1698	15.4213	0.75015	0.0:1.0:0.0:0.0	.	283	Q99583	MNT_HUMAN	Q	283	ENSP00000174618:E283Q	ENSP00000174618:E283Q	E	-	1	0	MNT	2238054	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	7.798000	0.85924	1.870000	0.54199	0.313000	0.20887	GAG	MNT	-	superfamily_HLH_DNA-bd	ENSG00000070444		0.592	MNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNT	HGNC	protein_coding	OTTHUMT00000207158.1	17	0.00	0	C	NM_020310		2291304	2291304	-1	no_errors	ENST00000174618	ensembl	human	known	69_37n	missense	30	51.61	32	SNP	1.000	G
MYH15	22989	genome.wustl.edu	37	3	108129757	108129757	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr3:108129757G>A	ENST00000273353.3	-	32	4284	c.4228C>T	c.(4228-4230)Cag>Tag	p.Q1410*		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1410						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GCTGCCTCCTGCAATCTAATT	0.557																																						dbGAP											0													25.0	26.0	26.0					3																	108129757		2103	4230	6333	-	-	-	SO:0001587	stop_gained	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.4228C>T	3.37:g.108129757G>A	ENSP00000273353:p.Gln1410*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.Q1410*	ENST00000273353.3	37	c.4228	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	43	10.196803	0.99357	.	.	ENSG00000144821	ENST00000273353	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.7133	0.91666	0.0:0.0:1.0:0.0	.	.	.	.	X	1410	.	ENSP00000273353:Q1410X	Q	-	1	0	MYH15	109612447	1.000000	0.71417	0.942000	0.38095	0.787000	0.44495	9.475000	0.97721	2.429000	0.82318	0.655000	0.94253	CAG	MYH15	-	pfam_Myosin_tail,superfamily_Lambda_DNA-bd_dom	ENSG00000144821		0.557	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	11	0.00	0	G	XM_036988		108129757	108129757	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	nonsense	5	61.54	8	SNP	1.000	A
PCDHGA2	56113	genome.wustl.edu	37	5	140718824	140718824	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr5:140718824T>A	ENST00000394576.2	+	1	286	c.286T>A	c.(286-288)Tgc>Agc	p.C96S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	96	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGAGCTCTGCGCTCAGAG	0.498																																						dbGAP											0													60.0	65.0	63.0					5																	140718824		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.286T>A	5.37:g.140718824T>A	ENSP00000378077:p.Cys96Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.C96S	ENST00000394576.2	37	c.286	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	16.43	3.120836	0.56613	.	.	ENSG00000081853	ENST00000394576	T	0.55413	0.52	5.17	5.17	0.71159	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.45361	U	0.000378	D	0.85839	0.5790	H	0.99906	4.925	0.42012	D	0.990942	D;D	0.89917	0.999;1.0	D;D	0.83275	0.988;0.996	D	0.92693	0.6168	10	0.87932	D	0	.	14.9775	0.71286	0.0:0.0:0.0:1.0	.	96;96	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	S	96	ENSP00000378077:C96S	ENSP00000378077:C96S	C	+	1	0	PCDHGA2	140699008	1.000000	0.71417	0.999000	0.59377	0.148000	0.21650	5.944000	0.70219	2.080000	0.62538	0.533000	0.62120	TGC	PCDHGA2	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000081853		0.498	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	47	0.00	0	T	NM_018915		140718824	140718824	+1	no_errors	ENST00000394576	ensembl	human	known	69_37n	missense	26	42.22	19	SNP	1.000	A
PHLPP2	23035	genome.wustl.edu	37	16	71683564	71683565	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr16:71683564_71683565insG	ENST00000568954.1	-	19	3578_3579	c.3200_3201insC	c.(3199-3201)ccafs	p.P1067fs	PHLPP2_ENST00000356272.3_Frame_Shift_Ins_p.P1067fs|PHLPP2_ENST00000567016.1_Frame_Shift_Ins_p.P1102fs|PHLPP2_ENST00000393524.2_Frame_Shift_Ins_p.P1000fs|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1067					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ATGGAGTGGCTGGCTTAGGGGC	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3201dupC	16.37:g.71683566_71683566dupG	ENSP00000457991:p.Pro1067fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L374|Q9NV17|Q9Y2E3	Frame_Shift_Ins	INS	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.A1068fs	ENST00000568954.1	37	c.3201_3200	CCDS32479.1	16																																																																																			PHLPP2	-	NULL	ENSG00000040199		0.535	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	36	0.00	0	-	NM_015020		71683564	71683565	-1	no_errors	ENST00000356272	ensembl	human	known	69_37n	frame_shift_ins	14	17.65	3	INS	0.983:1.000	G
PHOX2B	8929	genome.wustl.edu	37	4	41749389	41749389	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr4:41749389C>T	ENST00000226382.2	-	2	765	c.406G>A	c.(406-408)Gac>Aac	p.D136N	RP11-227F19.2_ENST00000510602.1_lincRNA|RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	136					autonomic nervous system development (GO:0048483)|brainstem development (GO:0003360)|cell differentiation in hindbrain (GO:0021533)|cellular response to BMP stimulus (GO:0071773)|dopaminergic neuron differentiation (GO:0071542)|efferent axon development in a lateral line nerve (GO:0048894)|enteric nervous system development (GO:0048484)|glial cell differentiation (GO:0010001)|hindbrain tangential cell migration (GO:0021934)|inner ear development (GO:0048839)|medullary reticular formation development (GO:0021723)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|noradrenergic neuron development (GO:0003358)|noradrenergic neuron differentiation (GO:0003357)|parasympathetic nervous system development (GO:0048486)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression (GO:0010468)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory system development (GO:0060541)|retrotrapezoid nucleus neuron differentiation (GO:0061452)|skeletal muscle cell differentiation (GO:0035914)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.D136N(1)		autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						TCTGTGAGGTCGATCTTCAGG	0.642			"""Mis, F"""		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													dbGAP	yes	Rec	yes	familial neuroblastoma	4	4p12	8929	paired-like homeobox 2b	yes	O	1	Substitution - Missense(1)	large_intestine(1)											42.0	46.0	45.0					4																	41749389		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D82344	CCDS3463.1	4p13	2014-09-17	2003-02-10	2003-02-14	ENSG00000109132	ENSG00000109132		"""Homeoboxes / PRD class"""	9143	protein-coding gene	gene with protein product		603851	"""paired mesoderm homeobox 2b"""	PMX2B		9039501, 10395798	Standard	NM_003924		Approved	Phox2b, NBPhox	uc003gwf.4	Q99453	OTTHUMG00000099379	ENST00000226382.2:c.406G>A	4.37:g.41749389C>T	ENSP00000226382:p.Asp136Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJD9	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1	p.D136N	ENST00000226382.2	37	c.406	CCDS3463.1	4	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385997	0.61956	.	.	ENSG00000109132	ENST00000226382	D	0.94793	-3.52	5.54	5.54	0.83059	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.92727	0.7688	N	0.02830	-0.485	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92557	0.6055	10	0.27082	T	0.32	.	19.6787	0.95950	0.0:1.0:0.0:0.0	.	136	Q99453	PHX2B_HUMAN	N	136	ENSP00000226382:D136N	ENSP00000226382:D136N	D	-	1	0	PHOX2B	41444146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.779000	0.62375	2.884000	0.98904	0.655000	0.94253	GAC	PHOX2B	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	ENSG00000109132		0.642	PHOX2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHOX2B	HGNC	protein_coding	OTTHUMT00000216832.2	11	0.00	0	C			41749389	41749389	-1	no_errors	ENST00000226382	ensembl	human	known	69_37n	missense	10	56.52	13	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	60	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	40	29.82	17	SNP	1.000	G
ZNF512B	57473	genome.wustl.edu	37	20	62657296	62657296	+	Intron	SNP	A	A	G			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr20:62657296A>G	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Intron			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTTCAGGCCAACCCCAACAGT	0.602																																						dbGAP											0													212.0	219.0	216.0					20																	62657296		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+22761T>C	20.37:g.62657296A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.N638S	ENST00000450537.1	37	c.1913	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340769	0.81911	.	.	ENSG00000101161	ENST00000266079	T	0.34275	1.37	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.53077	0.1774	M	0.87758	2.905	0.80722	D	1	P	0.45474	0.859	P	0.48873	0.593	T	0.55995	-0.8052	10	0.18276	T	0.48	-38.8431	16.1383	0.81506	1.0:0.0:0.0:0.0	.	638	O94906	PRP6_HUMAN	S	638	ENSP00000266079:N638S	ENSP00000266079:N638S	N	+	2	0	PRPF6	62127740	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.075000	0.76798	2.219000	0.72066	0.533000	0.62120	AAC	PRPF6	-	smart_HAT	ENSG00000101161		0.602	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	20	0.00	0	A	NM_020713		62657296	62657296	+1	no_errors	ENST00000266079	ensembl	human	known	69_37n	missense	26	40.91	18	SNP	1.000	G
ROBO1	6091	genome.wustl.edu	37	3	78987810	78987810	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr3:78987810C>T	ENST00000464233.1	-	4	553	c.440G>A	c.(439-441)tGt>tAt	p.C147Y	ROBO1_ENST00000495273.1_Missense_Mutation_p.C108Y|ROBO1_ENST00000467549.1_Missense_Mutation_p.C108Y|ROBO1_ENST00000436010.2_Missense_Mutation_p.C108Y|RN7SL751P_ENST00000473281.2_RNA	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	147	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CCTTGCTACACAGACATAGAC	0.493																																						dbGAP											0													79.0	77.0	77.0					3																	78987810		2024	4181	6205	-	-	-	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.440G>A	3.37:g.78987810C>T	ENSP00000420321:p.Cys147Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.C147Y	ENST00000464233.1	37	c.440	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666667	0.88251	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91358	0.7274	H	0.99026	4.405	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.94614	0.7807	9	.	.	.	.	19.4697	0.94958	0.0:1.0:0.0:0.0	.	147;108;108;108	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	Y	108;108;147;108;108;147	ENSP00000406043:C108Y;ENSP00000420321:C147Y;ENSP00000420637:C108Y;ENSP00000417992:C108Y	.	C	-	2	0	ROBO1	79070500	1.000000	0.71417	0.997000	0.53966	0.819000	0.46315	7.792000	0.85828	2.611000	0.88343	0.462000	0.41574	TGT	ROBO1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000169855		0.493	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	79	0.00	0	C	NM_002941		78987810	78987810	-1	no_errors	ENST00000464233	ensembl	human	known	69_37n	missense	51	42.05	37	SNP	1.000	T
SPEN	23013	genome.wustl.edu	37	1	16261272	16261273	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr1:16261272_16261273insCT	ENST00000375759.3	+	11	8741_8742	c.8537_8538insCT	c.(8536-8541)gaatttfs	p.EF2846fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2846	Interaction with RBPSUH. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGGACATTGAATTTCAGCAGT	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	Exception_encountered	1.37:g.16261272_16261273insCT	ENSP00000364912:p.Glu2846fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E2846fs	ENST00000375759.3	37	c.8537_8538	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.574	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	44	0.00	0	-	NM_015001		16261272	16261273	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_ins	7	76.67	23	INS	1.000:0.920	CT
SPRY3	10251	genome.wustl.edu	37	X	155004063	155004063	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chrX:155004063C>T	ENST00000302805.2	+	2	961	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	177	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				multicellular organismal development (GO:0007275)|regulation of signal transduction (GO:0009966)	cytoplasm (GO:0005737)|membrane (GO:0016020)						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCCTTTGCTCTGCTGAGAGC	0.582																																						dbGAP											0													185.0	176.0	179.0					X																	155004063		2203	4296	6499	-	-	-	SO:0001583	missense	0			AF041038	CCDS14769.4	Xq28 and Yq12	2008-02-05	2001-11-28		ENSG00000168939	ENSG00000168939		"""Pseudoautosomal regions / PAR2"""	11271	protein-coding gene	gene with protein product	"""antagonist of FGF signaling"""	300531	"""sprouty (Drosophila) homolog 2"""			9458049	Standard	NM_005840		Approved	HSPRY3	uc004fnq.1	O43610	OTTHUMG00000022675	ENST00000302805.2:c.530C>T	X.37:g.155004063C>T	ENSP00000302978:p.Ser177Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H8	Missense_Mutation	SNP	pfam_Sprouty	p.S177F	ENST00000302805.2	37	c.530	CCDS14769.4	X	.	.	.	.	.	.	.	.	.	.	C	16.03	3.007943	0.54361	.	.	ENSG00000168939	ENST00000302805	T	0.66099	-0.19	2.71	2.71	0.32032	.	0.000000	0.85682	D	0.000000	T	0.74183	0.3683	.	.	.	0.09310	N	0.999999	D	0.63880	0.993	D	0.71414	0.973	T	0.64050	-0.6498	9	0.87932	D	0	-7.0876	10.5274	0.44957	0.0:1.0:0.0:0.0	.	177	O43610	SPY3_HUMAN	F	177	ENSP00000302978:S177F	ENSP00000302978:S177F	S	+	2	0	SPRY3	154657257	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.174000	0.77620	1.366000	0.46076	0.279000	0.19357	TCT	SPRY3	-	pfam_Sprouty	ENSG00000168939		0.582	SPRY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY3	HGNC	protein_coding	OTTHUMT00000058823.2	144	0.00	0	C	NM_005840		155004063	155004063	+1	no_errors	ENST00000302805	ensembl	human	known	69_37n	missense	81	44.52	65	SNP	1.000	T
TRAPPC1	58485	genome.wustl.edu	37	17	7833976	7833976	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chr17:7833976C>T	ENST00000303731.4	-	4	501	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	CNTROB_ENST00000380262.3_5'Flank|CNTROB_ENST00000380255.3_5'Flank|TRAPPC1_ENST00000540486.1_Missense_Mutation_p.R129Q|CNTROB_ENST00000565740.1_5'Flank|RP11-1099M24.7_ENST00000573621.1_5'Flank|KCNAB3_ENST00000303790.2_5'Flank|CNTROB_ENST00000563694.1_5'Flank	NM_021210.4	NP_067033.1	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	129			R -> G (in a melanoma). {ECO:0000269|PubMed:10582700}.		ER to Golgi vesicle-mediated transport (GO:0006888)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|TRAPP complex (GO:0030008)				breast(1)|lung(2)	3		Prostate(122;0.173)				GGAGTCCAGTCGGGAGCGAAA	0.562																																						dbGAP											0													110.0	80.0	90.0					17																	7833976		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF129332	CCDS11125.1	17p13.1	2011-10-10			ENSG00000170043	ENSG00000170043		"""Trafficking protein particle complex"""	19894	protein-coding gene	gene with protein product		610969				10582700	Standard	NM_021210		Approved	MUM2, BET5	uc002gjo.2	Q9Y5R8	OTTHUMG00000108171	ENST00000303731.4:c.386G>A	17.37:g.7833976C>T	ENSP00000302783:p.Arg129Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTR0	Missense_Mutation	SNP	pfam_Sybindin,superfamily_Longin-like_dom	p.R129Q	ENST00000303731.4	37	c.386	CCDS11125.1	17	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690629	0.48097	.	.	ENSG00000170043	ENST00000303731;ENST00000540486	T;T	0.40756	1.02;1.02	5.59	5.59	0.84812	Longin-like (1);	0.377771	0.26349	N	0.024895	T	0.22475	0.0542	N	0.11064	0.09	0.26270	N	0.978445	B	0.18610	0.029	B	0.08055	0.003	T	0.07616	-1.0763	10	0.33141	T	0.24	-11.245	8.6537	0.34051	0.0:0.838:0.0:0.162	.	129	Q9Y5R8	TPPC1_HUMAN	Q	129	ENSP00000302783:R129Q;ENSP00000441130:R129Q	ENSP00000302783:R129Q	R	-	2	0	TRAPPC1	7774701	0.969000	0.33509	0.998000	0.56505	0.985000	0.73830	2.179000	0.42528	2.648000	0.89879	0.655000	0.94253	CGA	TRAPPC1	-	pfam_Sybindin,superfamily_Longin-like_dom	ENSG00000170043		0.562	TRAPPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC1	HGNC	protein_coding	OTTHUMT00000226975.2	40	0.00	0	C	NM_021210		7833976	7833976	-1	no_errors	ENST00000303731	ensembl	human	known	69_37n	missense	16	48.39	15	SNP	0.994	T
YY2	404281	genome.wustl.edu	37	X	21874875	21874875	+	Silent	SNP	C	C	T			TCGA-AQ-A1H2-01A-11D-A13L-09	TCGA-AQ-A1H2-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1ab2dc63-51ce-4a96-b7ad-f0d9eb198d10	164f69db-8ade-412a-935c-2f2b05203616	g.chrX:21874875C>T	ENST00000429584.2	+	1	771	c.273C>T	c.(271-273)tgC>tgT	p.C91C	MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	91	Mediates transcriptional activation.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TGGGCTATTGCGACTCAGACA	0.557																																						dbGAP											0													127.0	97.0	108.0					X																	21874875		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.273C>T	X.37:g.21874875C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP10|Q6Q1S4	Silent	SNP	smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2	p.C91	ENST00000429584.2	37	c.273	CCDS14202.1	X																																																																																			YY2	-	pirsf_TF_Yin_yang	ENSG00000230797		0.557	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YY2	HGNC	protein_coding	OTTHUMT00000056025.1	28	0.00	0	C	NM_206923		21874875	21874875	+1	no_errors	ENST00000429584	ensembl	human	known	69_37n	silent	21	38.24	13	SNP	0.010	T
