#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ASPM	259266	genome.wustl.edu	37	1	197062229	197062230	+	Frame_Shift_Ins	INS	-	-	A	rs201050851		TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr1:197062229_197062230insA	ENST00000367409.4	-	21	9502_9503	c.9246_9247insT	c.(9244-9249)tctacafs	p.T3083fs	ASPM_ENST00000367408.1_Frame_Shift_Ins_p.T748fs|ASPM_ENST00000294732.7_Frame_Shift_Ins_p.T1498fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3083	IQ 37. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGATAACTGTAGATTTTTTAA	0.351																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9247dupT	1.37:g.197062230_197062230dupA	ENSP00000356379:p.Thr3083fs		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Frame_Shift_Ins	INS	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.T3082fs	ENST00000367409.4	37	c.9247_9246	CCDS1389.1	1																																																																																			ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.351	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	135	0.00	0	-	NM_018136		197062229	197062230	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	frame_shift_ins	27	12.90	4	INS	0.055:0.074	A
ACTN2	88	genome.wustl.edu	37	1	236894614	236894614	+	Splice_Site	SNP	G	G	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr1:236894614G>T	ENST00000366578.4	+	7	863	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Splice_Site_p.D233Y|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	233	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGATGCTGAAGGTGAGATGAA	0.388																																						dbGAP											0													113.0	111.0	111.0					1																	236894614		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.697+1G>T	1.37:g.236894614G>T			B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2	p.D233Y	ENST00000366578.4	37	c.697	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454934	0.84209	.	.	ENSG00000077522	ENST00000542672;ENST00000366578	T;T	0.72394	-0.65;-0.65	5.01	5.01	0.66863	Calponin homology domain (5);	0.044542	0.85682	D	0.000000	D	0.88876	0.6556	H	0.94542	3.55	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92196	0.5764	10	0.87932	D	0	.	18.3186	0.90230	0.0:0.0:1.0:0.0	.	18;233;233	B7Z4K1;B2RCS5;P35609	.;.;ACTN2_HUMAN	Y	233	ENSP00000443495:D233Y;ENSP00000355537:D233Y	ENSP00000355537:D233Y	D	+	1	0	ACTN2	234961237	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	9.869000	0.99810	2.325000	0.78763	0.561000	0.74099	GAT;GAC	ACTN2	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000077522		0.388	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	HGNC	protein_coding	OTTHUMT00000096628.1	187	0.00	0	G	NM_001103	Missense_Mutation	236894614	236894614	+1	no_errors	ENST00000366578	ensembl	human	known	69_37n	missense	192	25.00	64	SNP	1.000	T
ATCAY	85300	genome.wustl.edu	37	19	3908273	3908273	+	Silent	SNP	C	C	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr19:3908273C>T	ENST00000450849.2	+	6	1019	c.552C>T	c.(550-552)taC>taT	p.Y184Y	ATCAY_ENST00000301260.6_Silent_p.Y184Y|ATCAY_ENST00000398448.3_Silent_p.Y190Y|ATCAY_ENST00000600960.1_Silent_p.Y184Y	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	184	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CAGGGTACTACGGCGAAGGCC	0.632																																						dbGAP											0													28.0	36.0	33.0					19																	3908273		2147	4251	6398	-	-	-	SO:0001819	synonymous_variant	0				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.552C>T	19.37:g.3908273C>T			Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.Y184	ENST00000450849.2	37	c.552	CCDS45923.1	19																																																																																			ATCAY	-	pfam_Bcl2-/adenovirus-E1B,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	ENSG00000167654		0.632	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	29	0.00	0	C			3908273	3908273	+1	no_errors	ENST00000301260	ensembl	human	known	69_37n	silent	27	44.00	22	SNP	0.998	T
BAI2	576	genome.wustl.edu	37	1	32210310	32210310	+	Silent	SNP	C	C	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr1:32210310C>T	ENST00000373658.3	-	5	1202	c.861G>A	c.(859-861)ccG>ccA	p.P287P	BAI2_ENST00000398547.1_Silent_p.P275P|BAI2_ENST00000257070.4_Silent_p.P287P|BAI2_ENST00000373655.2_Silent_p.P287P|BAI2_ENST00000527361.1_Silent_p.P287P|BAI2_ENST00000398542.1_Silent_p.P275P|BAI2_ENST00000440175.2_5'UTR|BAI2_ENST00000398538.1_Silent_p.P275P|BAI2_ENST00000398556.3_Silent_p.P290P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	287					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TTTTCACTTTCGGTTCCTCTT	0.622																																						dbGAP											0													103.0	86.0	92.0					1																	32210310		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.861G>A	1.37:g.32210310C>T			B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.P287	ENST00000373658.3	37	c.861	CCDS346.2	1																																																																																			BAI2	-	NULL	ENSG00000121753		0.622	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	HGNC	protein_coding	OTTHUMT00000381838.1	96	0.00	0	C	NM_001703		32210310	32210310	-1	no_errors	ENST00000373658	ensembl	human	known	69_37n	silent	158	10.17	18	SNP	1.000	T
BCAN	63827	genome.wustl.edu	37	1	156622582	156622582	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr1:156622582A>G	ENST00000329117.5	+	8	2176	c.1840A>G	c.(1840-1842)Aat>Gat	p.N614D	BCAN_ENST00000361588.5_Missense_Mutation_p.N614D|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	614					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCTGAAGATAATTCTGGAAG	0.662																																						dbGAP											0													28.0	29.0	29.0					1																	156622582		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1840A>G	1.37:g.156622582A>G	ENSP00000331210:p.Asn614Asp		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EGF-like,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like	p.N614D	ENST00000329117.5	37	c.1840	CCDS1149.1	1	.	.	.	.	.	.	.	.	.	.	A	9.626	1.135208	0.21123	.	.	ENSG00000132692	ENST00000329117;ENST00000361588	T;T	0.13420	2.59;3.28	4.45	0.751	0.18392	.	0.712552	0.12040	N	0.505122	T	0.01940	0.0061	N	0.19112	0.55	0.19300	N	0.999971	B;B	0.26547	0.094;0.152	B;B	0.29785	0.016;0.107	T	0.45934	-0.9227	10	0.21014	T	0.42	-2.5242	0.5047	0.00585	0.442:0.1805:0.2037:0.1738	.	614;614	Q96GW7;Q96GW7-2	PGCB_HUMAN;.	D	614	ENSP00000331210:N614D;ENSP00000354925:N614D	ENSP00000331210:N614D	N	+	1	0	BCAN	154889206	1.000000	0.71417	0.995000	0.50966	0.952000	0.60782	0.827000	0.27421	0.754000	0.32968	0.374000	0.22700	AAT	BCAN	-	NULL	ENSG00000132692		0.662	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAN	HGNC	protein_coding	OTTHUMT00000081844.2	20	0.00	0	A	NM_021948		156622582	156622582	+1	no_errors	ENST00000329117	ensembl	human	known	69_37n	missense	44	34.33	23	SNP	0.689	G
BTBD1	53339	genome.wustl.edu	37	15	83710593	83710594	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr15:83710593_83710594GC>AT	ENST00000261721.4	-	4	950_951	c.748_749GC>AT	c.(748-750)GCa>ATa	p.A250I	BTBD1_ENST00000560015.1_5'Flank|BTBD1_ENST00000379403.2_Missense_Mutation_p.A250I|RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	250					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		CTGACATTCTGCTTCTGCCCAG	0.406																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.748_749delinsAT	15.37:g.83710593_83710594delinsAT	ENSP00000261721:p.Ala250Ile		A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.A250V|p.A250T	ENST00000261721.4	37	c.749|c.748	CCDS10322.1	15																																																																																			BTBD1	-	pfam_BACK,smart_BACK	ENSG00000064726		0.406	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD1	HGNC	protein_coding	OTTHUMT00000304008.1	210|213	0.00	0	G|C			83710593|83710594	83710593|83710594	-1	no_errors	ENST00000261721	ensembl	human	known	69_37n	missense	139|143	44.96|43.97	116|113	SNP	1.000	A|T
CCDC168	643677	genome.wustl.edu	37	13	103382805	103382805	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr13:103382805delT	ENST00000322527.2	-	1	6354	c.6355delA	c.(6355-6357)aggfs	p.R2119fs		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	2119																	CTCTGGGTCCTTAAATCAACA	0.353																																						dbGAP											0													68.0	55.0	59.0					13																	103382805		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.6355delA	13.37:g.103382805delT	ENSP00000320232:p.Arg2119fs		Q8N800	Frame_Shift_Del	DEL	NULL	p.R2119fs	ENST00000322527.2	37	c.6355		13																																																																																			CCDC168	-	NULL	ENSG00000175820		0.353	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		84	0.00	0	T	NM_001146197		103382805	103382805	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	frame_shift_del	12	14.29	2	DEL	0.000	-
CCT3	7203	genome.wustl.edu	37	1	156305652	156305652	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr1:156305652C>G	ENST00000295688.3	-	2	339	c.59G>C	c.(58-60)aGa>aCa	p.R20T	CCT3_ENST00000368261.3_5'UTR|TSACC_ENST00000368253.2_5'Flank|TSACC_ENST00000368254.1_5'Flank|TSACC_ENST00000368252.1_5'Flank|CCT3_ENST00000472765.2_5'UTR|TSACC_ENST00000481479.1_5'Flank|CCT3_ENST00000368256.3_5'UTR|CCT3_ENST00000368259.2_Missense_Mutation_p.R20T|TSACC_ENST00000470342.1_5'Flank|TSACC_ENST00000466306.1_5'Flank|TSACC_ENST00000368255.3_5'Flank	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	20					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TTGAACTTTTCTTCCGGATTC	0.423																																						dbGAP											0													177.0	147.0	158.0					1																	156305652		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.59G>C	1.37:g.156305652C>G	ENSP00000295688:p.Arg20Thr		A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma	p.R20T	ENST00000295688.3	37	c.59	CCDS1140.2	1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852393	0.91355	.	.	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000413555;ENST00000496684;ENST00000446905;ENST00000478640;ENST00000415548	T;T;T;T;T;T;D	0.90069	2.77;-0.66;2.77;2.77;2.77;2.77;-2.61	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92113	0.7500	M	0.86178	2.8	0.80722	D	1	P;P;B	0.52170	0.951;0.546;0.246	P;B;B	0.54140	0.743;0.418;0.216	D	0.92904	0.6342	10	0.66056	D	0.02	-15.1256	15.2033	0.73157	0.0:1.0:0.0:0.0	.	20;20;20	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	T	20;20;44;20;44;20;20	ENSP00000295688:R20T;ENSP00000357242:R20T;ENSP00000413308:R44T;ENSP00000434232:R20T;ENSP00000388799:R44T;ENSP00000435026:R20T;ENSP00000413431:R20T	ENSP00000295688:R20T	R	-	2	0	CCT3	154572276	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.368000	0.66133	2.663000	0.90544	0.650000	0.86243	AGA	CCT3	-	superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma	ENSG00000163468		0.423	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	HGNC	protein_coding	OTTHUMT00000060602.3	257	0.00	0	C	NM_005998		156305652	156305652	-1	no_errors	ENST00000295688	ensembl	human	known	69_37n	missense	490	21.19	132	SNP	1.000	G
CDH10	1008	genome.wustl.edu	37	5	24535931	24535931	+	Splice_Site	DEL	C	C	-			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr5:24535931delC	ENST00000264463.4	-	4	1034	c.527delG	c.(526-528)ggt>gt	p.G176fs		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	176	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G176V(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CACAGAAGTACCTGAAGTATC	0.443										HNSCC(23;0.051)																												dbGAP											1	Substitution - Missense(1)	lung(1)											93.0	85.0	88.0					5																	24535931		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.527-1G>-	5.37:g.24535931delC			Q9ULB3	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G176fs	ENST00000264463.4	37	c.527	CCDS3892.1	5																																																																																			CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin	ENSG00000040731		0.443	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	90	0.00	0	C	NM_006727	Frame_Shift_Del	24535931	24535931	-1	no_errors	ENST00000264463	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
CDX4	1046	genome.wustl.edu	37	X	72674300	72674300	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chrX:72674300C>T	ENST00000373514.2	+	3	734	c.734C>T	c.(733-735)tCg>tTg	p.S245L		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	245					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGTGGAGGCTCGGTGCAAAGT	0.448																																						dbGAP											0													114.0	94.0	101.0					X																	72674300		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.734C>T	X.37:g.72674300C>T	ENSP00000362613:p.Ser245Leu		A1A513|Q5JS20	Missense_Mutation	SNP	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.S245L	ENST00000373514.2	37	c.734	CCDS14424.1	X	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344256	0.61073	.	.	ENSG00000131264	ENST00000373514	D	0.94092	-3.35	3.91	3.03	0.35002	Homeodomain-like (1);	0.171149	0.40818	N	0.001009	D	0.93223	0.7841	L	0.54323	1.7	0.53005	D	0.999967	D	0.65815	0.995	P	0.57679	0.825	D	0.90557	0.4513	10	0.38643	T	0.18	-6.1563	8.6381	0.33962	0.0:0.8788:0.0:0.1212	.	245	O14627	CDX4_HUMAN	L	245	ENSP00000362613:S245L	ENSP00000362613:S245L	S	+	2	0	CDX4	72591025	0.998000	0.40836	0.924000	0.36721	0.925000	0.55904	3.895000	0.56258	0.607000	0.29982	0.429000	0.28392	TCG	CDX4	-	superfamily_Homeodomain-like	ENSG00000131264		0.448	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX4	HGNC	protein_coding	OTTHUMT00000057229.2	229	0.00	0	C	NM_005193		72674300	72674300	+1	no_errors	ENST00000373514	ensembl	human	known	69_37n	missense	95	62.89	161	SNP	0.984	T
CHRM2	1129	genome.wustl.edu	37	7	136700083	136700084	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr7:136700083_136700084insG	ENST00000445907.2	+	3	999_1000	c.471_472insG	c.(472-474)gccfs	p.A158fs	hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000402486.3_Frame_Shift_Ins_p.A158fs|CHRM2_ENST00000397608.3_Frame_Shift_Ins_p.A158fs|CHRM2_ENST00000453373.1_Frame_Shift_Ins_p.A158fs|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000320658.5_Frame_Shift_Ins_p.A158fs|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Ins_p.A158fs	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	158					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCTGGGCTCCAGCCATTCTCTT	0.51																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.472dupG	7.37:g.136700084_136700084dupG	ENSP00000399745:p.Ala158fs		Q4VBK6|Q9P1X9	Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn	p.A157fs	ENST00000445907.2	37	c.471_472	CCDS5843.1	7																																																																																			CHRM2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000181072		0.510	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	53	0.00	0	-			136700083	136700084	+1	no_errors	ENST00000320658	ensembl	human	known	69_37n	frame_shift_ins	21	16.00	4	INS	0.201:1.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16952334	16952334	+	lincRNA	SNP	G	G	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr1:16952334G>A	ENST00000412962.1	-	0	935							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TTGCTCCAGCGCCTCCTGGGC	0.652																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16952334G>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.652	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	12	0.00	0	G	NR_026752.1		16952334	16952334	-1	no_errors	ENST00000412962	ensembl	human	known	69_37n	rna	18	28.00	7	SNP	0.983	A
CSMD1	64478	genome.wustl.edu	37	8	3855433	3855433	+	Silent	SNP	T	T	C			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr8:3855433T>C	ENST00000520002.1	-	5	1365	c.810A>G	c.(808-810)ccA>ccG	p.P270P	CSMD1_ENST00000602557.1_Silent_p.P270P|CSMD1_ENST00000539096.1_Silent_p.P270P|CSMD1_ENST00000602723.1_Silent_p.P270P|CSMD1_ENST00000400186.3_Silent_p.P270P|CSMD1_ENST00000542608.1_Silent_p.P270P|CSMD1_ENST00000537824.1_Silent_p.P270P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	270	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCATATGGATGGAGCTTCCG	0.502																																						dbGAP											0													49.0	50.0	50.0					8																	3855433		1987	4191	6178	-	-	-	SO:0001819	synonymous_variant	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.810A>G	8.37:g.3855433T>C			Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.P270	ENST00000520002.1	37	c.810		8																																																																																			CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000183117		0.502	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	73	0.00	0	T	NM_033225		3855433	3855433	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	silent	22	33.33	11	SNP	0.009	C
EARS2	124454	genome.wustl.edu	37	16	23535677	23535677	+	3'UTR	SNP	C	C	T	rs200936622	byFrequency	TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr16:23535677C>T	ENST00000563459.1	-	0	1593				EARS2_ENST00000449606.1_3'UTR|EARS2_ENST00000564987.1_5'UTR			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		CTCCACTGCCCGAAACATCCT	0.542																																						dbGAP											0													162.0	156.0	158.0					16																	23535677		1968	4144	6112	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.*15G>A	16.37:g.23535677C>T			B3KTT2|D3DWF1|Q86YH3|Q8TF31	RNA	SNP	-	NULL	ENST00000563459.1	37	NULL	CCDS42132.1	16																																																																																			EARS2	-	-	ENSG00000103356		0.542	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	EARS2	HGNC	protein_coding	OTTHUMT00000434844.1	119	0.00	0	C	NM_133451		23535677	23535677	-1	no_errors	ENST00000564987	ensembl	human	known	69_37n	rna	122	25.00	41	SNP	0.000	T
ECM2	1842	genome.wustl.edu	37	9	95277299	95277301	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr9:95277299_95277301delTCT	ENST00000344604.5	-	4	815_817	c.666_668delAGA	c.(664-669)gaagat>gat	p.E222del	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_In_Frame_Del_p.E200del	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	222					cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						TTGCTCTGTATCTTCTTCTTTCA	0.468																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.666_668delAGA	9.37:g.95277305_95277307delTCT	ENSP00000344758:p.Glu222del		B2R730|E2PU11|Q5T9F2|Q7Z3D0	In_Frame_Del	DEL	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.E222in_frame_del	ENST00000344604.5	37	c.668_666	CCDS6698.1	9																																																																																			ECM2	-	NULL	ENSG00000106823		0.468	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1	152	0.00	0	TCT	NM_001393		95277299	95277301	-1	no_errors	ENST00000344604	ensembl	human	known	69_37n	in_frame_del	127	38.16	79	DEL	0.015:0.011:0.071	-
FASN	2194	genome.wustl.edu	37	17	80054315	80054315	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr17:80054315C>G	ENST00000306749.2	-	2	225	c.7G>C	c.(7-9)Gag>Cag	p.E3Q		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	3	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ATCACCACCTCCTCCATGGCT	0.647																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													92.0	82.0	85.0					17																	80054315		2202	4300	6502	-	-	-	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7G>C	17.37:g.80054315C>G	ENSP00000304592:p.Glu3Gln		Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.E3Q	ENST00000306749.2	37	c.7	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	23.3	4.404041	0.83230	.	.	ENSG00000169710	ENST00000306749	T	0.26957	1.7	4.07	4.07	0.47477	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.137415	0.47852	D	0.000220	T	0.43010	0.1228	L	0.50919	1.6	0.51767	D	0.999935	D	0.71674	0.998	D	0.62955	0.909	T	0.43750	-0.9372	10	0.62326	D	0.03	-33.3381	16.2604	0.82536	0.0:1.0:0.0:0.0	.	3	P49327	FAS_HUMAN	Q	3	ENSP00000304592:E3Q	ENSP00000304592:E3Q	E	-	1	0	FASN	77647604	1.000000	0.71417	1.000000	0.80357	0.369000	0.29798	7.560000	0.82277	1.829000	0.53265	0.462000	0.41574	GAG	FASN	-	pfam_Ketoacyl_synth_N,superfamily_Thiolase-like	ENSG00000169710		0.647	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	28	0.00	0	C	NM_004104		80054315	80054315	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	missense	32	28.89	13	SNP	1.000	G
FHAD1	114827	genome.wustl.edu	37	1	15694118	15694118	+	Splice_Site	SNP	G	G	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr1:15694118G>A	ENST00000375998.4	+	23	3248	c.3248G>A	c.(3247-3249)aGg>aAg	p.R1083K	FHAD1_ENST00000358897.4_Splice_Site_p.R1083K|FHAD1_ENST00000314740.8_Splice_Site_p.R336K|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000375999.3_Splice_Site_p.R1083K|FHAD1_ENST00000417793.1_Splice_Site_p.R1047K			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	1083										skin(1)|stomach(1)	2						GAGGCACTCAGGTTGGGTGGG	0.597																																						dbGAP											0													38.0	34.0	35.0					1																	15694118		692	1591	2283	-	-	-	SO:0001630	splice_region_variant	0			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.3248+1G>A	1.37:g.15694118G>A			Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.R1083K	ENST00000375998.4	37	c.3248		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.26|13.26	2.183804|2.183804	0.38609|0.38609	.|.	.|.	ENSG00000142621|ENSG00000142621	ENST00000444385|ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668	.|T;T;T;T;T;T;T	.|0.55413	.|0.52;0.54;0.52;0.52;0.61;0.63;0.61	4.78|4.78	4.78|4.78	0.61160|0.61160	.|.	.|.	.|.	.|.	.|.	T|T	0.67906|0.67906	0.2943|0.2943	L|L	0.61036|0.61036	1.89|1.89	0.28889|0.28889	N|N	0.893973|0.893973	.|D;D	.|0.67145	.|0.996;0.965	.|D;P	.|0.76071	.|0.987;0.777	T|T	0.61048|0.61048	-0.7141|-0.7141	5|9	.|0.30854	.|T	.|0.27	.|.	13.6656|13.6656	0.62393|0.62393	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|336;1083	.|B7WPP2;B1AJZ9	.|.;FHAD1_HUMAN	R|K	402|1083;1047;1083;1083;354;336;318	.|ENSP00000351770:R1083K;ENSP00000407615:R1047K;ENSP00000365167:R1083K;ENSP00000365166:R1083K;ENSP00000434909:R354K;ENSP00000322979:R336K;ENSP00000318812:R318K	.|ENSP00000318812:R318K	G|R	+|+	1|2	0|0	FHAD1|FHAD1	15566705|15566705	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.076000|0.076000	0.17211|0.17211	3.064000|3.064000	0.49986|0.49986	2.364000|2.364000	0.80123|0.80123	0.655000|0.655000	0.94253|0.94253	GGG|AGG	FHAD1	-	NULL	ENSG00000142621		0.597	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	17	0.00	0	G	NM_052929	Missense_Mutation	15694118	15694118	+1	no_errors	ENST00000375999	ensembl	human	known	69_37n	missense	7	73.08	19	SNP	1.000	A
FCRL3	115352	genome.wustl.edu	37	1	157667171	157667171	+	Silent	SNP	G	G	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr1:157667171G>T	ENST00000368184.3	-	6	894	c.603C>A	c.(601-603)ccC>ccA	p.P201P	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.P201P|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	201	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					TCCCCTCTATGGGCGTGGAAG	0.537																																						dbGAP											0													63.0	68.0	66.0					1																	157667171		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.603C>A	1.37:g.157667171G>T			A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.P201	ENST00000368184.3	37	c.603	CCDS1167.1	1																																																																																			FCRL3	-	smart_Ig_sub,pfscan_Ig-like	ENSG00000160856		0.537	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FCRL3	HGNC	protein_coding	OTTHUMT00000051419.2	62	0.00	0	G	NM_052939		157667171	157667171	-1	no_errors	ENST00000368186	ensembl	human	known	69_37n	silent	25	53.70	29	SNP	0.002	T
HK3	3101	genome.wustl.edu	37	5	176308376	176308376	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr5:176308376G>A	ENST00000292432.5	-	18	2645	c.2554C>T	c.(2554-2556)Cgg>Tgg	p.R852W		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	852	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGTTCTCCCGGATCTTCTCC	0.657																																						dbGAP											0													76.0	83.0	81.0					5																	176308376		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2554C>T	5.37:g.176308376G>A	ENSP00000292432:p.Arg852Trp		Q8N1E7	Missense_Mutation	SNP	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R852W	ENST00000292432.5	37	c.2554	CCDS4407.1	5	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688975	0.68271	.	.	ENSG00000160883	ENST00000292432	D	0.98221	-4.8	5.35	4.48	0.54585	Hexokinase, C-terminal (1);	0.000000	0.49916	D	0.000128	D	0.99001	0.9659	M	0.92923	3.36	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.99605	1.0979	10	0.87932	D	0	.	9.7502	0.40470	0.0743:0.0:0.7859:0.1398	.	852	P52790	HXK3_HUMAN	W	852	ENSP00000292432:R852W	ENSP00000292432:R852W	R	-	1	2	HK3	176240982	0.998000	0.40836	0.995000	0.50966	0.811000	0.45836	2.118000	0.41949	1.397000	0.46682	0.561000	0.74099	CGG	HK3	-	pfam_Hexokinase_C	ENSG00000160883		0.657	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK3	HGNC	protein_coding	OTTHUMT00000253428.1	57	0.00	0	G			176308376	176308376	-1	no_errors	ENST00000292432	ensembl	human	known	69_37n	missense	101	11.40	13	SNP	1.000	A
HYDIN	54768	genome.wustl.edu	37	16	71008518	71008518	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr16:71008518G>A	ENST00000393567.2	-	32	4978	c.4828C>T	c.(4828-4830)Cga>Tga	p.R1610*		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1610					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTGGGTTCGGACTTCGCCA	0.478																																						dbGAP											0													9.0	14.0	12.0					16																	71008518		1679	3986	5665	-	-	-	SO:0001587	stop_gained	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.4828C>T	16.37:g.71008518G>A	ENSP00000377197:p.Arg1610*		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Nonsense_Mutation	SNP	superfamily_PapD-like	p.R1609*	ENST00000393567.2	37	c.4825	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	45	11.333178	0.99547	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	.	.	.	4.66	3.68	0.42216	.	0.807415	0.09632	U	0.776163	.	.	.	.	.	.	0.25972	N	0.982489	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	13.2967	0.60301	0.0:0.0:0.8408:0.1592	.	.	.	.	X	1610;1609	.	ENSP00000313052:R1609X	R	-	1	2	HYDIN	69566019	0.033000	0.19621	0.630000	0.29268	0.362000	0.29581	1.784000	0.38674	1.059000	0.40554	0.505000	0.49811	CGA	HYDIN	-	NULL	ENSG00000157423		0.478	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	77	0.00	0	G			71008518	71008518	-1	no_errors	ENST00000316490	ensembl	human	known	69_37n	nonsense	1	96.30	26	SNP	0.048	A
IL17RA	23765	genome.wustl.edu	37	22	17577966	17577966	+	Silent	SNP	G	G	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr22:17577966G>A	ENST00000319363.6	+	2	286	c.153G>A	c.(151-153)acG>acA	p.T51T	IL17RA_ENST00000477874.1_Intron	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	51					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TAAACTGCACGGTCAAGAATA	0.463																																						dbGAP											0													223.0	190.0	201.0					22																	17577966		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.153G>A	22.37:g.17577966G>A			O43844|Q20WK1	Silent	SNP	pfam_SEFIR	p.T51	ENST00000319363.6	37	c.153	CCDS13739.1	22																																																																																			IL17RA	-	NULL	ENSG00000177663		0.463	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RA	HGNC	protein_coding	OTTHUMT00000315820.1	324	0.00	0	G	NM_014339		17577966	17577966	+1	no_errors	ENST00000319363	ensembl	human	known	69_37n	silent	256	45.76	216	SNP	0.009	A
IREB2	3658	genome.wustl.edu	37	15	78758680	78758680	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr15:78758680A>G	ENST00000258886.8	+	5	627	c.478A>G	c.(478-480)Aaa>Gaa	p.K160E	IREB2_ENST00000560440.1_Missense_Mutation_p.K160E|IREB2_ENST00000559427.1_3'UTR	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	160					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		CTCTCCAGTTAAAGTGCAGCC	0.468																																					NSCLC(200;764 2208 35157 49871 50830)	dbGAP											0													73.0	71.0	72.0					15																	78758680		2196	4293	6489	-	-	-	SO:0001583	missense	0			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.478A>G	15.37:g.78758680A>G	ENSP00000258886:p.Lys160Glu		A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	pfam_Acoase/IPM_deHydtase_lsu_aba,pfam_AconitaseA/IPMdHydase_ssu_swvl,superfamily_Acoase/IPM_deHydtase_lsu_aba,superfamily_Aconitase/3IPM_dehydase_swvl,prints_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2	p.K160E	ENST00000258886.8	37	c.478	CCDS10302.1	15	.	.	.	.	.	.	.	.	.	.	A	13.10	2.135452	0.37728	.	.	ENSG00000136381	ENST00000258886	T	0.19669	2.13	6.08	0.671	0.17929	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.519358	0.21986	N	0.066222	T	0.15522	0.0374	L	0.27053	0.805	0.09310	N	1	B;B	0.20368	0.044;0.012	B;B	0.15870	0.014;0.014	T	0.19484	-1.0304	10	0.62326	D	0.03	.	14.7174	0.69280	0.5241:0.4759:0.0:0.0	.	160;160	P48200;Q8WVK6	IREB2_HUMAN;.	E	160	ENSP00000258886:K160E	ENSP00000258886:K160E	K	+	1	0	IREB2	76545735	0.053000	0.20554	0.000000	0.03702	0.904000	0.53231	0.649000	0.24843	-0.123000	0.11745	0.482000	0.46254	AAA	IREB2	-	superfamily_Acoase/IPM_deHydtase_lsu_aba	ENSG00000136381		0.468	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	HGNC	protein_coding	OTTHUMT00000290109.3	149	0.00	0	A	NM_004136		78758680	78758680	+1	no_errors	ENST00000258886	ensembl	human	known	69_37n	missense	57	36.26	33	SNP	0.004	G
JAK2	3717	genome.wustl.edu	37	9	5077523	5077523	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr9:5077523delA	ENST00000381652.3	+	15	2429	c.1935delA	c.(1933-1935)atafs	p.I645fs	JAK2_ENST00000544510.1_Frame_Shift_Del_p.I496fs|AL161450.1_ENST00000601793.1_Intron|JAK2_ENST00000539801.1_Frame_Shift_Del_p.I645fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	645	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAAATTGTATAAATATATTAT	0.259		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													dbGAP		Dom	yes		9	9p24	3717	Janus kinase 2		L	0													13.0	15.0	14.0					9																	5077523		2065	4162	6227	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1935delA	9.37:g.5077523delA	ENSP00000371067:p.Ile645fs		O14636|O75297	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N646fs	ENST00000381652.3	37	c.1935	CCDS6457.1	9																																																																																			JAK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom	ENSG00000096968		0.259	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK2	HGNC	protein_coding	OTTHUMT00000051609.1	45	0.00	0	A			5077523	5077523	+1	no_errors	ENST00000381652	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
KIF26B	55083	genome.wustl.edu	37	1	245861431	245861431	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr1:245861431C>T	ENST00000407071.2	+	13	6288	c.5848C>T	c.(5848-5850)Cca>Tca	p.P1950S	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1569S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1950					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGGCTTATCCCAGCACTATC	0.542																																						dbGAP											0													48.0	50.0	49.0					1																	245861431		1860	4102	5962	-	-	-	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5848C>T	1.37:g.245861431C>T	ENSP00000385545:p.Pro1950Ser		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1950S	ENST00000407071.2	37	c.5848	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132291	0.77662	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.88431	-2.38;-2.38	5.68	5.68	0.88126	.	.	.	.	.	D	0.95146	0.8427	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95254	0.8362	9	0.87932	D	0	.	19.7789	0.96410	0.0:1.0:0.0:0.0	.	1950	Q2KJY2	KI26B_HUMAN	S	1950;1569;1566	ENSP00000385545:P1950S;ENSP00000355475:P1569S	ENSP00000355475:P1569S	P	+	1	0	KIF26B	243928054	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.242000	0.78210	2.679000	0.91253	0.655000	0.94253	CCA	KIF26B	-	NULL	ENSG00000162849		0.542	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	96	0.00	0	C	XM_371354		245861431	245861431	+1	no_errors	ENST00000407071	ensembl	human	known	69_37n	missense	238	17.87	52	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151880094	151880094	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr7:151880094C>A	ENST00000262189.6	-	35	5448	c.5230G>T	c.(5230-5232)Gaa>Taa	p.E1744*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E1744*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1744	Gln-rich.				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)										TGTTCTGATTCTCTTTGCTTT	0.363																																						dbGAP											0													177.0	176.0	176.0					7																	151880094		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5230G>T	7.37:g.151880094C>A	ENSP00000262189:p.Glu1744*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1744*	ENST00000262189.6	37	c.5230	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	47	13.848883	0.99766	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.7	4.7	0.59300	.	0.000000	0.46145	D	0.000308	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.5295	0.90986	0.0:1.0:0.0:0.0	.	.	.	.	X	1744	.	ENSP00000262189:E1744X	E	-	1	0	MLL3	151511027	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.470000	0.80973	2.551000	0.86045	0.563000	0.77884	GAA	MLL3	-	NULL	ENSG00000055609		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	290	0.00	0	C			151880094	151880094	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	50	66.89	101	SNP	1.000	A
MRPL45	84311	genome.wustl.edu	37	17	36453190	36453190	+	Missense_Mutation	SNP	G	G	C	rs564266991		TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr17:36453190G>C	ENST00000312513.5	+	1	202	c.41G>C	c.(40-42)aGg>aCg	p.R14T		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	14						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGTTTATCGAGGTTTTTGGGC	0.582																																						dbGAP											0													82.0	98.0	93.0					17																	36453190		692	1591	2283	-	-	-	SO:0001583	missense	0			BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.41G>C	17.37:g.36453190G>C	ENSP00000308901:p.Arg14Thr		A1L436|Q6ZMJ5	Missense_Mutation	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45	p.R14T	ENST00000312513.5	37	c.41	CCDS11326.1	17	.	.	.	.	.	.	.	.	.	.	G	9.352	1.065848	0.20067	.	.	ENSG00000174100	ENST00000312513	T	0.32023	1.47	4.28	2.29	0.28610	.	0.273852	0.35708	N	0.003021	T	0.27063	0.0663	M	0.64997	1.995	0.20196	N	0.999927	P	0.37781	0.608	B	0.37943	0.261	T	0.09618	-1.0666	10	0.32370	T	0.25	-9.2438	6.5442	0.22397	0.2211:0.0:0.7789:0.0	.	14	Q9BRJ2	RM45_HUMAN	T	14	ENSP00000308901:R14T	ENSP00000308901:R14T	R	+	2	0	MRPL45	33706709	0.201000	0.23410	0.695000	0.30226	0.069000	0.16628	0.383000	0.20651	0.558000	0.29135	0.511000	0.50034	AGG	MRPL45	-	NULL	ENSG00000174100		0.582	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	MRPL45	HGNC	protein_coding	OTTHUMT00000256792.3	222	0.00	0	G	NM_032351		36453190	36453190	+1	no_errors	ENST00000312513	ensembl	human	known	69_37n	missense	200	43.34	153	SNP	0.616	C
NDNF	79625	genome.wustl.edu	37	4	121958762	121958763	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr4:121958762_121958763insTG	ENST00000379692.4	-	4	889_890	c.363_364insCA	c.(361-366)gaaggcfs	p.G122fs	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	122					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AACTCAGTGCCTTCCTCATTAA	0.431																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.363_364insCA	4.37:g.121958762_121958763insTG	ENSP00000369014:p.Gly122fs		A8K0Q0|Q6UWE5|Q9H5P7	Frame_Shift_Ins	INS	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.G121fs	ENST00000379692.4	37	c.364_363	CCDS3717.2	4																																																																																			NDNF	-	NULL	ENSG00000173376		0.431	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	68	0.00	0	-	NM_024574		121958762	121958763	-1	no_errors	ENST00000379692	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	1.000:0.865	TG
OTOP1	133060	genome.wustl.edu	37	4	4199797	4199797	+	Missense_Mutation	SNP	G	G	A	rs201574696		TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr4:4199797G>A	ENST00000296358.4	-	5	788	c.764C>T	c.(763-765)aCg>aTg	p.T255M		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	255					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTTGGGGGCGTGCAGTTACA	0.537																																						dbGAP											0													61.0	50.0	53.0					4																	4199797		2203	4300	6503	-	-	-	SO:0001583	missense	0			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.764C>T	4.37:g.4199797G>A	ENSP00000296358:p.Thr255Met		A1L476	Missense_Mutation	SNP	pfam_Otopetrin	p.T255M	ENST00000296358.4	37	c.764	CCDS3372.1	4	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382860	0.25031	.	.	ENSG00000163982	ENST00000296358	T	0.09630	2.96	4.56	3.68	0.42216	.	0.911894	0.09279	N	0.823975	T	0.29716	0.0742	L	0.55481	1.735	0.37869	D	0.929993	D	0.89917	1.0	D	0.71870	0.975	T	0.03077	-1.1075	10	0.72032	D	0.01	.	13.8223	0.63329	0.0:0.2927:0.7073:0.0	.	255	Q7RTM1	OTOP1_HUMAN	M	255	ENSP00000296358:T255M	ENSP00000296358:T255M	T	-	2	0	OTOP1	4250698	0.869000	0.29996	0.122000	0.21767	0.004000	0.04260	1.136000	0.31467	0.993000	0.38866	0.404000	0.27445	ACG	OTOP1	-	NULL	ENSG00000163982		0.537	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	HGNC	protein_coding	OTTHUMT00000206661.2	38	0.00	0	G	NM_177998		4199797	4199797	-1	no_errors	ENST00000296358	ensembl	human	known	69_37n	missense	15	53.12	17	SNP	0.710	A
PCDHA6	56142	genome.wustl.edu	37	5	140208763	140208763	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr5:140208763G>A	ENST00000529310.1	+	1	1201	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.A363T	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	363	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGAAGACGCTCAATTTGG	0.493																																						dbGAP											0													118.0	114.0	115.0					5																	140208763		2203	4297	6500	-	-	-	SO:0001583	missense	0			AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.1087G>A	5.37:g.140208763G>A	ENSP00000433378:p.Ala363Thr		O75283|Q9NRT8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A363T	ENST00000529310.1	37	c.1087	CCDS47281.1	5	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231615	0.39399	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.02682	4.2;4.2	3.7	1.58	0.23477	Cadherin (3);Cadherin-like (1);	0.225320	0.21647	U	0.071254	T	0.07863	0.0197	M	0.62266	1.93	0.21967	N	0.99945	D;P;D	0.64830	0.963;0.903;0.994	B;P;P	0.55161	0.413;0.665;0.77	T	0.09840	-1.0656	10	0.48119	T	0.1	.	11.3916	0.49817	0.0:0.0:0.5032:0.4968	.	363;363;363	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	T	363	ENSP00000433378:A363T;ENSP00000434113:A363T	ENSP00000434113:A363T	A	+	1	0	PCDHA6	140188947	0.838000	0.29461	0.683000	0.30040	0.604000	0.37047	1.577000	0.36515	0.812000	0.34326	0.313000	0.20887	GCT	PCDHA6	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000081842		0.493	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA6	HGNC	protein_coding	OTTHUMT00000372829.3	75	0.00	0	G	NM_018909		140208763	140208763	+1	no_errors	ENST00000529310	ensembl	human	known	69_37n	missense	65	45.90	56	SNP	0.909	A
PHKA2	5256	genome.wustl.edu	37	X	18969226	18969226	+	Silent	SNP	G	G	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chrX:18969226G>T	ENST00000379942.4	-	4	1115	c.450C>A	c.(448-450)gcC>gcA	p.A150A		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	150					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTCACCTGAGGCGGTCATCT	0.627																																						dbGAP											0													70.0	58.0	62.0					X																	18969226		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.450C>A	X.37:g.18969226G>T			A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Silent	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.A150	ENST00000379942.4	37	c.450	CCDS14190.1	X																																																																																			PHKA2	-	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	ENSG00000044446		0.627	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHKA2	HGNC	protein_coding	OTTHUMT00000055960.1	120	0.00	0	G	NM_000292		18969226	18969226	-1	no_errors	ENST00000379942	ensembl	human	known	69_37n	silent	79	65.20	148	SNP	0.966	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	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.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		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.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	126	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	25	40.48	17	SNP	1.000	A
PRDM1	639	genome.wustl.edu	37	6	106553787	106553787	+	Silent	SNP	C	C	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr6:106553787C>T	ENST00000369096.4	+	5	1986	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	PRDM1_ENST00000369089.3_Silent_p.F450F|PRDM1_ENST00000369091.2_Silent_p.F548F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	584					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCAAGACTTTCGGCCAGCTCT	0.493			"""D, N, Mis, F, S"""		DLBCL																																	dbGAP		Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											51.0	46.0	48.0					6																	106553787		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1752C>T	6.37:g.106553787C>T			B2REA6|E1P5E0|Q86WM7	Silent	SNP	pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2	p.F584	ENST00000369096.4	37	c.1752	CCDS5054.2	6																																																																																			PRDM1	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_Znf_C2H2	ENSG00000057657		0.493	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM1	HGNC	protein_coding	OTTHUMT00000041661.3	12	0.00	0	C			106553787	106553787	+1	no_errors	ENST00000369096	ensembl	human	known	69_37n	silent	13	50.00	13	SNP	0.932	T
PRKD2	25865	genome.wustl.edu	37	19	47207835	47207835	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr19:47207835G>A	ENST00000291281.4	-	4	808	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	PRKD2_ENST00000433867.1_Missense_Mutation_p.R195C|PRKD2_ENST00000595515.1_Missense_Mutation_p.R195C|PRKD2_ENST00000601806.1_Missense_Mutation_p.R38C|PRKD2_ENST00000600194.1_Missense_Mutation_p.R38C			Q9BZL6	KPCD2_HUMAN	protein kinase D2	195					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GATGACAGGCGCCGTTTGCGG	0.647											OREG0025578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													39.0	43.0	42.0					19																	47207835		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.583C>T	19.37:g.47207835G>A	ENSP00000291281:p.Arg195Cys	945	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R195C	ENST00000291281.4	37	c.583	CCDS12689.1	19	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342771	0.61073	.	.	ENSG00000105287	ENST00000291281;ENST00000433867	T;T	0.69306	-0.39;-0.39	5.4	4.35	0.52113	.	0.163832	0.37761	N	0.001948	T	0.64249	0.2581	M	0.61703	1.905	0.80722	D	1	B;B	0.29481	0.245;0.245	B;B	0.30716	0.081;0.119	T	0.65578	-0.6134	10	0.62326	D	0.03	-37.0929	12.4498	0.55671	0.0:0.0:0.697:0.303	.	195;195	E7ER94;Q9BZL6	.;KPCD2_HUMAN	C	195	ENSP00000291281:R195C;ENSP00000393978:R195C	ENSP00000291281:R195C	R	-	1	0	PRKD2	51899675	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	5.084000	0.64462	1.254000	0.44035	0.313000	0.20887	CGC	PRKD2	-	NULL	ENSG00000105287		0.647	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKD2	HGNC	protein_coding	OTTHUMT00000466591.1	32	0.00	0	G	NM_016457		47207835	47207835	-1	no_errors	ENST00000291281	ensembl	human	known	69_37n	missense	21	57.14	28	SNP	1.000	A
PRPSAP2	5636	genome.wustl.edu	37	17	18785979	18785979	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr17:18785979C>T	ENST00000268835.2	+	7	794	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	PRPSAP2_ENST00000536323.1_Nonsense_Mutation_p.Q85*|PRPSAP2_ENST00000419071.2_Nonsense_Mutation_p.Q131*|PRPSAP2_ENST00000542013.1_Nonsense_Mutation_p.Q171*	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	171					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CTTCTTATTACAGTATATTCA	0.338																																						dbGAP											0													133.0	150.0	144.0					17																	18785979		2202	4299	6501	-	-	-	SO:0001587	stop_gained	0			AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.511C>T	17.37:g.18785979C>T	ENSP00000268835:p.Gln171*		B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Nonsense_Mutation	SNP	tigrfam_Rib-P_diPkinase	p.Q171*	ENST00000268835.2	37	c.511	CCDS11200.1	17	.	.	.	.	.	.	.	.	.	.	C	40	8.336659	0.98767	.	.	ENSG00000141127	ENST00000395656;ENST00000414602;ENST00000419071;ENST00000432893;ENST00000455992;ENST00000412418;ENST00000419284;ENST00000268835;ENST00000536323;ENST00000422237;ENST00000542013	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0044	19.0091	0.92865	0.0:1.0:0.0:0.0	.	.	.	.	X	171;171;131;171;171;171;171;171;85;171;171	.	.	Q	+	1	0	PRPSAP2	18726704	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.772000	0.85439	2.476000	0.83614	0.585000	0.79938	CAG	PRPSAP2	-	tigrfam_Rib-P_diPkinase	ENSG00000141127		0.338	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP2	HGNC	protein_coding	OTTHUMT00000132112.3	202	0.49	1	C	NM_002767		18785979	18785979	+1	no_errors	ENST00000268835	ensembl	human	known	69_37n	nonsense	54	62.33	91	SNP	1.000	T
RASGRF2	5924	genome.wustl.edu	37	5	80390150	80390150	+	Silent	SNP	G	G	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr5:80390150G>A	ENST00000265080.4	+	11	1654	c.1587G>A	c.(1585-1587)ttG>ttA	p.L529L		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	529	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACTGCACATTGATTGAGGAGC	0.438																																						dbGAP											0													92.0	83.0	86.0					5																	80390150		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.1587G>A	5.37:g.80390150G>A			B9EG89|Q9UK56	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L529	ENST00000265080.4	37	c.1587	CCDS4052.1	5																																																																																			RASGRF2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000113319		0.438	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASGRF2	HGNC	protein_coding	OTTHUMT00000239215.2	160	0.00	0	G	NM_006909		80390150	80390150	+1	no_errors	ENST00000265080	ensembl	human	known	69_37n	silent	100	31.97	47	SNP	1.000	A
SAP25	100316904	genome.wustl.edu	37	7	100170189	100170189	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr7:100170189C>T	ENST00000538735.1	-	6	498	c.321G>A	c.(319-321)atG>atA	p.M107I		NM_001168682.1	NP_001162153.1	Q8TEE9	SAP25_HUMAN	Sin3A-associated protein, 25kDa	107					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TCAGGGAGCCCATCATCTGAG	0.667																																						dbGAP											0													22.0	27.0	26.0					7																	100170189		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS55137.1	7q22.1	2011-05-19			ENSG00000205307	ENSG00000205307			41908	protein-coding gene	gene with protein product						16449650	Standard	NM_001168682		Approved	FLJ00248	uc022aip.1	Q8TEE9		ENST00000538735.1:c.321G>A	7.37:g.100170189C>T	ENSP00000442339:p.Met107Ile			Missense_Mutation	SNP	NULL	p.M107I	ENST00000538735.1	37	c.321	CCDS55137.1	7	.	.	.	.	.	.	.	.	.	.	C	14.77	2.635955	0.47049	.	.	ENSG00000205307	ENST00000342773;ENST00000538735	.	.	.	5.52	5.52	0.82312	.	0.486378	0.16107	N	0.229276	T	0.36220	0.0959	L	0.29908	0.895	0.09310	N	1	B	0.32829	0.386	B	0.34242	0.178	T	0.39840	-0.9594	9	0.87932	D	0	-12.764	15.3512	0.74389	0.0:1.0:0.0:0.0	.	107	Q8TEE9	SAP25_HUMAN	I	107	.	ENSP00000340429:M107I	M	-	3	0	SAP25	100008125	0.004000	0.15560	0.516000	0.27786	0.910000	0.53928	1.615000	0.36922	2.773000	0.95371	0.650000	0.86243	ATG	SAP25	-	NULL	ENSG00000205307		0.667	SAP25-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SAP25	HGNC	protein_coding		23	0.00	0	C			100170189	100170189	-1	no_errors	ENST00000538735	ensembl	human	known	69_37n	missense	35	31.37	16	SNP	0.187	T
SLC39A6	25800	genome.wustl.edu	37	18	33706858	33706858	+	Missense_Mutation	SNP	G	G	C	rs369589683		TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr18:33706858G>C	ENST00000590986.1	-	2	402	c.113C>G	c.(112-114)cCg>cGg	p.P38R	ELP2_ENST00000351393.6_5'Flank|ELP2_ENST00000358232.6_5'Flank|SLC39A6_ENST00000269187.5_Missense_Mutation_p.P38R|SLC39A6_ENST00000440549.2_Intron			Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	38					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|lamellipodium membrane (GO:0031258)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTCCCAATTCGGACTAATTTT	0.413																																						dbGAP											0													106.0	100.0	102.0					18																	33706858		1846	4092	5938	-	-	-	SO:0001583	missense	0			U41060	CCDS42428.1, CCDS45854.1	18q12.2	2013-05-22				ENSG00000141424		"""Solute carriers"""	18607	protein-coding gene	gene with protein product		608731	"""solute carrier family 39 (metal ion transporter), member 6"""			12659941, 12839489	Standard	NM_012319		Approved	LIV-1	uc010dmy.3	Q13433		ENST00000590986.1:c.113C>G	18.37:g.33706858G>C	ENSP00000465915:p.Pro38Arg		B4DR49|B4E224|Q8IXR3|Q96HP5	Missense_Mutation	SNP	pfam_ZIP	p.P38R	ENST00000590986.1	37	c.113	CCDS42428.1	18	.	.	.	.	.	.	.	.	.	.	G	10.51	1.370086	0.24771	.	.	ENSG00000141424	ENST00000269187	T	0.22743	1.94	5.78	3.98	0.46160	.	0.820528	0.11355	N	0.572581	T	0.17195	0.0413	L	0.39898	1.24	0.09310	N	0.999999	B	0.20671	0.047	B	0.22880	0.042	T	0.27088	-1.0084	10	0.46703	T	0.11	0.9091	4.8873	0.13710	0.0801:0.1482:0.6184:0.1533	.	38	Q13433	S39A6_HUMAN	R	38	ENSP00000269187:P38R	ENSP00000269187:P38R	P	-	2	0	SLC39A6	31960856	0.027000	0.19231	0.007000	0.13788	0.833000	0.47200	0.623000	0.24447	0.773000	0.33404	0.561000	0.74099	CCG	SLC39A6	-	NULL	ENSG00000141424		0.413	SLC39A6-004	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	SLC39A6	HGNC	protein_coding	OTTHUMT00000444136.1	175	0.00	0	G			33706858	33706858	-1	no_errors	ENST00000269187	ensembl	human	known	69_37n	missense	104	49.27	101	SNP	0.010	C
TCAIM	285343	genome.wustl.edu	37	3	44441887	44441887	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr3:44441887G>A	ENST00000342649.4	+	9	1353	c.926G>A	c.(925-927)aGg>aAg	p.R309K	TCAIM_ENST00000417237.1_Missense_Mutation_p.R309K	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	309						mitochondrion (GO:0005739)											CTTCAGAGGAGGCTGATGATT	0.294																																						dbGAP											0													95.0	98.0	97.0					3																	44441887		2203	4295	6498	-	-	-	SO:0001583	missense	0				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.926G>A	3.37:g.44441887G>A	ENSP00000341539:p.Arg309Lys		A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Missense_Mutation	SNP	NULL	p.R309K	ENST00000342649.4	37	c.926	CCDS2712.1	3	.	.	.	.	.	.	.	.	.	.	G	6.514	0.463063	0.12402	.	.	ENSG00000179152	ENST00000417237;ENST00000342649	T;T	0.40476	1.03;1.03	5.74	-2.54	0.06307	.	0.414681	0.31145	N	0.008170	T	0.20007	0.0481	N	0.11560	0.145	0.27274	N	0.958295	B	0.02656	0.0	B	0.06405	0.002	T	0.17592	-1.0364	10	0.21014	T	0.42	.	13.4449	0.61136	0.6296:0.0:0.3704:0.0	.	309	Q8N3R3	CC023_HUMAN	K	309	ENSP00000402581:R309K;ENSP00000341539:R309K	ENSP00000341539:R309K	R	+	2	0	C3orf23	44416891	0.999000	0.42202	0.845000	0.33349	0.983000	0.72400	0.662000	0.25038	-0.330000	0.08514	-0.253000	0.11424	AGG	TCAIM	-	NULL	ENSG00000179152		0.294	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCAIM	HGNC	protein_coding	OTTHUMT00000256655.2	181	0.00	0	G	NM_173826		44441887	44441887	+1	no_errors	ENST00000342649	ensembl	human	known	69_37n	missense	45	52.13	49	SNP	0.893	A
TEX15	56154	genome.wustl.edu	37	8	30701516	30701516	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr8:30701516T>A	ENST00000256246.2	-	1	5092	c.5018A>T	c.(5017-5019)aAc>aTc	p.N1673I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1673					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATTCCACAGGTTTTGGTCTAC	0.333																																						dbGAP											0													106.0	107.0	106.0					8																	30701516		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5018A>T	8.37:g.30701516T>A	ENSP00000256246:p.Asn1673Ile			Missense_Mutation	SNP	NULL	p.N1673I	ENST00000256246.2	37	c.5018	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	T	11.82	1.751702	0.31046	.	.	ENSG00000133863	ENST00000256246	T	0.13196	2.61	5.92	5.92	0.95590	.	0.088071	0.49305	D	0.000151	T	0.32556	0.0833	M	0.63843	1.955	0.35646	D	0.811373	D	0.89917	1.0	D	0.78314	0.991	T	0.43491	-0.9388	10	0.87932	D	0	.	10.2866	0.43570	0.0:0.0768:0.0:0.9232	.	1673	Q9BXT5	TEX15_HUMAN	I	1673	ENSP00000256246:N1673I	ENSP00000256246:N1673I	N	-	2	0	TEX15	30821058	1.000000	0.71417	0.980000	0.43619	0.079000	0.17450	3.621000	0.54210	2.255000	0.74692	0.533000	0.62120	AAC	TEX15	-	NULL	ENSG00000133863		0.333	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	137	0.00	0	T			30701516	30701516	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	25	60.32	38	SNP	0.817	A
TMEM247	388946	genome.wustl.edu	37	2	46707851	46707851	+	Missense_Mutation	SNP	G	G	A	rs61995902	byFrequency	TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr2:46707851G>A	ENST00000434431.1	+	2	425	c.425G>A	c.(424-426)cGg>cAg	p.R142Q		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	142						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CAGCGGGAGCGGCAGCACGAG	0.667																																						dbGAP											0													28.0	35.0	33.0					2																	46707851		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.425G>A	2.37:g.46707851G>A	ENSP00000388684:p.Arg142Gln			Missense_Mutation	SNP	NULL	p.R142Q	ENST00000434431.1	37	c.425	CCDS56117.1	2	281	0.12866300366300365	44	0.08943089430894309	31	0.0856353591160221	177	0.3094405594405594	29	0.03825857519788918	G	8.581	0.882391	0.17467	.	.	ENSG00000187600	ENST00000434431	.	.	.	0.911	0.911	0.19343	.	1.824950	0.02980	N	0.145467	T	0.00012	0.0000	N	0.02539	-0.55	.	.	.	B	0.10296	0.003	B	0.06405	0.002	T	0.30880	-0.9963	8	0.11485	T	0.65	0.2519	7.3035	0.26434	0.0:0.0:1.0:0.0	rs61995902	142	A6NEH6	YB028_HUMAN	Q	142	.	ENSP00000388684:R142Q	R	+	2	0	AC018682.6	46561355	0.887000	0.30362	0.998000	0.56505	0.201000	0.24016	0.166000	0.16583	0.776000	0.33473	0.205000	0.17691	CGG	TMEM247	-	NULL	ENSG00000187600		0.667	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	TMEM247	HGNC	protein_coding	OTTHUMT00000329726.1	14	0.00	0	G	NM_001145051		46707851	46707851	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000434431	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179514309	179514310	+	Intron	INS	-	-	TG			TCGA-AO-A125-01A-11D-A10M-09	TCGA-AO-A125-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	17669c6d-2eeb-4d56-ac72-f06bfafb7e42	423d3a68-5276-4fa6-bc76-298f23758452	g.chr2:179514309_179514310insTG	ENST00000591111.1	-	166	35599				TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.V13315fs|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGCTTCTTAACAGTTGGGAC	0.347																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.35374+233->CA	2.37:g.179514309_179514310insTG			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K13316fs	ENST00000591111.1	37	c.39945_39944		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.347	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	9	0.00	0	-	NM_133378		179514309	179514310	-1	no_errors	ENST00000589042	ensembl	human	putative	69_37n	frame_shift_ins	2	50.00	2	INS	0.948:0.886	TG
