#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
COL4A2	1284	genome.wustl.edu	37	13	111138169	111138169	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	5e039180-7cbb-44b6-bc05-6e11e7393ebe	g.chr13:111138169T>C	ENST00000360467.5	+	34	3499	c.3193T>C	c.(3193-3195)Ttc>Ctc	p.F1065L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1065	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			ATTCCCAGGATTCATAGGAAG	0.562																																						dbGAP											0													35.0	40.0	39.0					13																	111138169		1854	4092	5946	-	-	-	SO:0001583	missense	0			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3193T>C	13.37:g.111138169T>C	ENSP00000353654:p.Phe1065Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.F1065L	ENST00000360467.5	37	c.3193	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	T	13.90	2.373802	0.42105	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.88664	-2.41	5.05	5.05	0.67936	.	0.234963	0.30020	N	0.010602	T	0.77758	0.4178	N	0.12961	0.28	0.09310	N	0.999998	P	0.34757	0.467	B	0.38296	0.27	T	0.66122	-0.6002	10	0.09590	T	0.72	.	8.3257	0.32156	0.1757:0.0:0.0:0.8243	.	1065	P08572	CO4A2_HUMAN	L	1065	ENSP00000353654:F1065L	ENSP00000257309:F1065L	F	+	1	0	COL4A2	109936170	0.051000	0.20477	0.374000	0.26016	0.897000	0.52465	1.607000	0.36836	1.893000	0.54813	0.460000	0.39030	TTC	COL4A2	-	pfam_Collagen	ENSG00000134871		0.562	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2	HGNC	protein_coding	OTTHUMT00000045761.2	33	0.00	0	T	NM_001846		111138169	111138169	+1	no_errors	ENST00000360467	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	0.077	C
CROCCP2	84809	genome.wustl.edu	37	1	16950261	16950261	+	lincRNA	SNP	G	G	C	rs11260845	byFrequency	TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	5e039180-7cbb-44b6-bc05-6e11e7393ebe	g.chr1:16950261G>C	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											aggccagccagactcctactc	0.572																																						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.16950261G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.572	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	11	0.00	0	G	NR_026752.1		16950261	16950261	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	11	31.25	5	SNP	0.687	C
DNM1P46	196968	genome.wustl.edu	37	15	100340123	100340125	+	RNA	DEL	AGA	AGA	-	rs368425453		TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-11A-62D-A10Y-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	6560af9c-0c1a-4659-b3ec-7a8dac4582f7	g.chr15:100340123_100340125delAGA	ENST00000341853.1	-	0	801_803					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										AGCAGCTCCGAGAAGATGAACTC	0.611																																						dbGAP											0																																										-	-	-			0			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340126_100340128delAGA		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3ZCN3	RNA	DEL	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-	ENSG00000182397		0.611	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	8	0.00	0	AGA	NR_003260		100340123	100340125	-1	no_errors	ENST00000341853	ensembl	human	known	69_37n	rna	8	33.33	4	DEL	0.899:0.883:0.880	-
GRIN2B	2904	genome.wustl.edu	37	12	13764692	13764692	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-11A-62D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	6560af9c-0c1a-4659-b3ec-7a8dac4582f7	g.chr12:13764692C>G	ENST00000609686.1	-	8	1956	c.1747G>C	c.(1747-1749)Gtg>Ctg	p.V583L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	583					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTATAACCCACAGGGCTGAAG	0.512																																						dbGAP											0													114.0	110.0	111.0					12																	13764692		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1747G>C	12.37:g.13764692C>G	ENSP00000477455:p.Val583Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V583L	ENST00000609686.1	37	c.1747	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134288	0.77662	.	.	ENSG00000150086	ENST00000279593	T	0.53206	0.63	6.09	6.09	0.99107	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.39384	0.1076	N	0.20685	0.6	0.80722	D	1	B	0.06786	0.001	B	0.21360	0.034	T	0.09207	-1.0685	10	0.34782	T	0.22	.	20.6949	0.99706	0.0:1.0:0.0:0.0	.	583	Q13224	NMDE2_HUMAN	L	583	ENSP00000279593:V583L	ENSP00000279593:V583L	V	-	1	0	GRIN2B	13655959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.932000	0.70121	2.899000	0.99337	0.655000	0.94253	GTG	GRIN2B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000150086		0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	48	0.00	0	C			13764692	13764692	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	missense	77	10.47	9	SNP	1.000	G
GRIN2B	2904	genome.wustl.edu	37	12	13764692	13764692	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	5e039180-7cbb-44b6-bc05-6e11e7393ebe	g.chr12:13764692C>G	ENST00000609686.1	-	8	1956	c.1747G>C	c.(1747-1749)Gtg>Ctg	p.V583L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	583					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTATAACCCACAGGGCTGAAG	0.512																																						dbGAP											0													114.0	110.0	111.0					12																	13764692		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1747G>C	12.37:g.13764692C>G	ENSP00000477455:p.Val583Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V583L	ENST00000609686.1	37	c.1747	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	C	21.3	4.134288	0.77662	.	.	ENSG00000150086	ENST00000279593	T	0.53206	0.63	6.09	6.09	0.99107	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.39384	0.1076	N	0.20685	0.6	0.80722	D	1	B	0.06786	0.001	B	0.21360	0.034	T	0.09207	-1.0685	10	0.34782	T	0.22	.	20.6949	0.99706	0.0:1.0:0.0:0.0	.	583	Q13224	NMDE2_HUMAN	L	583	ENSP00000279593:V583L	ENSP00000279593:V583L	V	-	1	0	GRIN2B	13655959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.932000	0.70121	2.899000	0.99337	0.655000	0.94253	GTG	GRIN2B	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000150086		0.512	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	82	0.00	0	C			13764692	13764692	-1	no_errors	ENST00000279593	ensembl	human	known	69_37n	missense	77	10.47	9	SNP	1.000	G
HMGXB4	10042	genome.wustl.edu	37	22	35661544	35661544	+	Frame_Shift_Del	DEL	A	A	-	rs76572304		TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	5e039180-7cbb-44b6-bc05-6e11e7393ebe	g.chr22:35661544delA	ENST00000216106.5	+	5	1291	c.1163delA	c.(1162-1164)gaafs	p.E388fs	HMGXB4_ENST00000444518.2_Frame_Shift_Del_p.E279fs	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	388					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCATAGTGAaaaaaaaaag	0.493																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.1163delA	22.37:g.35661544delA	ENSP00000216106:p.Glu388fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.K391fs	ENST00000216106.5	37	c.1163	CCDS33641.1	22																																																																																			HMGXB4	-	superfamily_HMG_superfamily	ENSG00000100281		0.493	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	32	0.00	0	A	NM_005487		35661544	35661544	+1	no_errors	ENST00000216106	ensembl	human	known	69_37n	frame_shift_del	33	12.82	5	DEL	1.000	-
HRNR	388697	genome.wustl.edu	37	1	152191465	152191465	+	Silent	SNP	G	G	A			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	5e039180-7cbb-44b6-bc05-6e11e7393ebe	g.chr1:152191465G>A	ENST00000368801.2	-	3	2715	c.2640C>T	c.(2638-2640)cgC>cgT	p.R880R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	880					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTCGGCCGCGGCCCGAAG	0.632																																						dbGAP											0													87.0	95.0	93.0					1																	152191465		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2640C>T	1.37:g.152191465G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.R880	ENST00000368801.2	37	c.2640	CCDS30859.1	1																																																																																			HRNR	-	NULL	ENSG00000197915		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	65	0.00	0	G	XM_373868		152191465	152191465	-1	no_errors	ENST00000368801	ensembl	human	known	69_37n	silent	108	12.10	15	SNP	0.000	A
PITPNC1	26207	genome.wustl.edu	37	17	65665709	65665709	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-11A-62D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	6560af9c-0c1a-4659-b3ec-7a8dac4582f7	g.chr17:65665709C>T	ENST00000581322.1	+	7	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F	PITPNC1_ENST00000335257.6_Missense_Mutation_p.S183F|PITPNC1_ENST00000580974.1_Missense_Mutation_p.S183F|PITPNC1_ENST00000299954.9_Missense_Mutation_p.S183F			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	183					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			ATCATGTGCTCCTACAAGCTG	0.483																																						dbGAP											0													82.0	86.0	85.0					17																	65665709		1956	4155	6111	-	-	-	SO:0001583	missense	0			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.548C>T	17.37:g.65665709C>T	ENSP00000464006:p.Ser183Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.S183F	ENST00000581322.1	37	c.548	CCDS58588.1	17	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098455	0.56183	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.49139	0.79;0.79	5.12	5.12	0.69794	START-like domain (1);	0.106535	0.64402	D	0.000003	T	0.73598	0.3607	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71184	0.968;0.972	T	0.79140	-0.1926	10	0.87932	D	0	-12.0794	18.918	0.92513	0.0:1.0:0.0:0.0	.	183;183	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	F	183	ENSP00000335618:S183F;ENSP00000299954:S183F	ENSP00000299954:S183F	S	+	2	0	PITPNC1	63096171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.662000	0.83803	2.529000	0.85273	0.563000	0.77884	TCC	PITPNC1	-	pfam_PI_transfer	ENSG00000154217		0.483	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNC1	HGNC	protein_coding	OTTHUMT00000447194.1	98	0.00	0	C	NM_012417		65665709	65665709	+1	no_errors	ENST00000335257	ensembl	human	known	69_37n	missense	133	14.56	23	SNP	1.000	T
PITPNC1	26207	genome.wustl.edu	37	17	65665709	65665709	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	5e039180-7cbb-44b6-bc05-6e11e7393ebe	g.chr17:65665709C>T	ENST00000581322.1	+	7	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F	PITPNC1_ENST00000335257.6_Missense_Mutation_p.S183F|PITPNC1_ENST00000580974.1_Missense_Mutation_p.S183F|PITPNC1_ENST00000299954.9_Missense_Mutation_p.S183F			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	183					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			ATCATGTGCTCCTACAAGCTG	0.483																																						dbGAP											0													82.0	86.0	85.0					17																	65665709		1956	4155	6111	-	-	-	SO:0001583	missense	0			AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.548C>T	17.37:g.65665709C>T	ENSP00000464006:p.Ser183Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	pfam_PI_transfer,prints_PI_transfer	p.S183F	ENST00000581322.1	37	c.548	CCDS58588.1	17	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098455	0.56183	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.49139	0.79;0.79	5.12	5.12	0.69794	START-like domain (1);	0.106535	0.64402	D	0.000003	T	0.73598	0.3607	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71184	0.968;0.972	T	0.79140	-0.1926	10	0.87932	D	0	-12.0794	18.918	0.92513	0.0:1.0:0.0:0.0	.	183;183	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	F	183	ENSP00000335618:S183F;ENSP00000299954:S183F	ENSP00000299954:S183F	S	+	2	0	PITPNC1	63096171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.662000	0.83803	2.529000	0.85273	0.563000	0.77884	TCC	PITPNC1	-	pfam_PI_transfer	ENSG00000154217		0.483	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNC1	HGNC	protein_coding	OTTHUMT00000447194.1	119	0.00	0	C	NM_012417		65665709	65665709	+1	no_errors	ENST00000335257	ensembl	human	known	69_37n	missense	133	14.56	23	SNP	1.000	T
SHARPIN	81858	genome.wustl.edu	37	8	145154289	145154289	+	Silent	SNP	G	G	A			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-11A-62D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	6560af9c-0c1a-4659-b3ec-7a8dac4582f7	g.chr8:145154289G>A	ENST00000398712.2	-	6	1249	c.813C>T	c.(811-813)gtC>gtT	p.V271V	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	271	Interaction with SHANK1. {ECO:0000250}.|Ubiquitin-like.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCGTCCGATGACCCAGCGTT	0.632																																						dbGAP											0													51.0	61.0	58.0					8																	145154289		2152	4254	6406	-	-	-	SO:0001819	synonymous_variant	0			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.813C>T	8.37:g.145154289G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.V271	ENST00000398712.2	37	c.813	CCDS43777.1	8																																																																																			SHARPIN	-	NULL	ENSG00000179526		0.632	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	27	0.00	0	G	NM_030974		145154289	145154289	-1	no_errors	ENST00000398712	ensembl	human	known	69_37n	silent	63	12.50	9	SNP	1.000	A
SHARPIN	81858	genome.wustl.edu	37	8	145154289	145154289	+	Silent	SNP	G	G	A			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	5e039180-7cbb-44b6-bc05-6e11e7393ebe	g.chr8:145154289G>A	ENST00000398712.2	-	6	1249	c.813C>T	c.(811-813)gtC>gtT	p.V271V	SHARPIN_ENST00000533948.1_5'Flank	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	271	Interaction with SHANK1. {ECO:0000250}.|Ubiquitin-like.				apoptotic nuclear changes (GO:0030262)|brain development (GO:0007420)|keratinization (GO:0031424)|mitochondrion organization (GO:0007005)|negative regulation of inflammatory response (GO:0050728)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein homooligomerization (GO:0051260)|protein linear polyubiquitination (GO:0097039)|regulation of CD40 signaling pathway (GO:2000348)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendrite (GO:0030425)|LUBAC complex (GO:0071797)|postsynaptic density (GO:0014069)	polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCGTCCGATGACCCAGCGTT	0.632																																						dbGAP											0													51.0	61.0	58.0					8																	145154289		2152	4254	6406	-	-	-	SO:0001819	synonymous_variant	0			AL136816	CCDS43777.1	8q24.3	2005-08-09				ENSG00000179526			25321	protein-coding gene	gene with protein product		611885				11178875, 12753155	Standard	NM_030974		Approved	DKFZP434N1923, SIPL1	uc003zba.3	Q9H0F6		ENST00000398712.2:c.813C>T	8.37:g.145154289G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEG3|C0L3L2|D3DWL3|Q8IXF5|Q8IXF6|Q8N2E7|Q8TB25|Q9BUE4	Silent	SNP	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.V271	ENST00000398712.2	37	c.813	CCDS43777.1	8																																																																																			SHARPIN	-	NULL	ENSG00000179526		0.632	SHARPIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHARPIN	HGNC	protein_coding	OTTHUMT00000382901.1	18	0.00	0	G	NM_030974		145154289	145154289	-1	no_errors	ENST00000398712	ensembl	human	known	69_37n	silent	63	12.50	9	SNP	1.000	A
STARD9	57519	genome.wustl.edu	37	15	42984625	42984625	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	5e039180-7cbb-44b6-bc05-6e11e7393ebe	g.chr15:42984625G>A	ENST00000290607.7	+	23	10906	c.10849G>A	c.(10849-10851)Gag>Aag	p.E3617K		NM_020759.2	NP_065810.2	Q9P2P6	STAR9_HUMAN	StAR-related lipid transfer (START) domain containing 9	3617					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spindle assembly (GO:0051225)	centriole (GO:0005814)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|lipid binding (GO:0008289)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TCCAGTGGATGAGATTATGCT	0.582																																						dbGAP											0													48.0	50.0	49.0					15																	42984625		692	1590	2282	-	-	-	SO:0001583	missense	0			AB037721	CCDS53935.1	15q15.2	2013-10-16	2007-08-16		ENSG00000159433	ENSG00000159433		"""StAR-related lipid transfer (START) domain containing"""	19162	protein-coding gene	gene with protein product		614642	"""START domain containing 9"""			10718198	Standard	NM_020759		Approved	KIAA1300	uc010udj.2	Q9P2P6	OTTHUMG00000175799	ENST00000290607.7:c.10849G>A	15.37:g.42984625G>A	ENSP00000290607:p.Glu3617Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DG2|Q6AI01|Q6ZWK0|Q9UF70	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E3617K	ENST00000290607.7	37	c.10849	CCDS53935.1	15	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411753	0.83340	.	.	ENSG00000159433	ENST00000290607	T	0.76709	-1.04	5.74	3.86	0.44501	.	.	.	.	.	T	0.72993	0.3530	L	0.59436	1.845	0.39222	D	0.963522	P	0.43431	0.807	B	0.39217	0.294	T	0.76141	-0.3068	9	0.87932	D	0	.	11.8078	0.52165	0.0663:0.1237:0.81:0.0	.	3531	Q9P2P6	STAR9_HUMAN	K	3617	ENSP00000290607:E3617K	ENSP00000290607:E3617K	E	+	1	0	STARD9	40771917	1.000000	0.71417	0.447000	0.26932	0.231000	0.25187	4.955000	0.63638	0.882000	0.36016	0.563000	0.77884	GAG	STARD9	-	NULL	ENSG00000159433		0.582	STARD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD9	HGNC	protein_coding	OTTHUMT00000431094.1	32	0.00	0	G			42984625	42984625	+1	no_errors	ENST00000290607	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.920	A
TBP	6908	genome.wustl.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427|rs369312237	byFrequency	TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-11A-62D-A10Y-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	6560af9c-0c1a-4659-b3ec-7a8dac4582f7	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572																																						dbGAP											4	Substitution - coding silent(4)	lung(3)|prostate(1)											14.0	19.0	17.0					6																	170871052		1952	3842	5794	-	-	-	SO:0001819	synonymous_variant	0			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.228G>A	6.37:g.170871052G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q76	ENST00000392092.2	37	c.228	CCDS5315.1	6																																																																																			TBP	-	NULL	ENSG00000112592		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	11	0.00	0	G	NM_003194		170871052	170871052	+1	no_errors	ENST00000230354	ensembl	human	known	69_37n	silent	32	20.00	8	SNP	0.994	A
TBX4	9496	genome.wustl.edu	37	17	59557513	59557513	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-11A-62D-A10Y-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	6560af9c-0c1a-4659-b3ec-7a8dac4582f7	g.chr17:59557513C>T	ENST00000240335.1	+	7	899	c.854C>T	c.(853-855)tCa>tTa	p.S285L	TBX4_ENST00000393853.4_Missense_Mutation_p.S285L|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	285					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCAGCTCTCAGCCACACCG	0.627																																						dbGAP											0													81.0	87.0	85.0					17																	59557513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.854C>T	17.37:g.59557513C>T	ENSP00000240335:p.Ser285Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S285L	ENST00000240335.1	37	c.854	CCDS11629.1	17	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546507	0.27652	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.80393	-1.37;-1.37	5.43	5.43	0.79202	.	0.606804	0.16862	N	0.196488	T	0.72875	0.3515	L	0.29908	0.895	0.26947	N	0.966112	B;B	0.28713	0.22;0.22	B;B	0.27380	0.079;0.079	T	0.60880	-0.7175	9	.	.	.	.	18.245	0.89982	0.0:1.0:0.0:0.0	.	285;285	A5PKU7;P57082	.;TBX4_HUMAN	L	285	ENSP00000377435:S285L;ENSP00000240335:S285L	.	S	+	2	0	TBX4	56912295	0.990000	0.36364	0.141000	0.22245	0.182000	0.23217	7.368000	0.79567	2.561000	0.86390	0.561000	0.74099	TCA	TBX4	-	NULL	ENSG00000121075		0.627	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	27	0.00	0	C	NM_018488		59557513	59557513	+1	no_errors	ENST00000393853	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	0.181	T
TBX4	9496	genome.wustl.edu	37	17	59557513	59557513	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0H5-01A-21D-A10Y-09	TCGA-BH-A0H5-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	44498a74-763a-4b7d-8b94-16c815ab8df5	5e039180-7cbb-44b6-bc05-6e11e7393ebe	g.chr17:59557513C>T	ENST00000240335.1	+	7	899	c.854C>T	c.(853-855)tCa>tTa	p.S285L	TBX4_ENST00000393853.4_Missense_Mutation_p.S285L|TBX4_ENST00000589449.1_3'UTR	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	285					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCAGCTCTCAGCCACACCG	0.627																																						dbGAP											0													81.0	87.0	85.0					17																	59557513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.854C>T	17.37:g.59557513C>T	ENSP00000240335:p.Ser285Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S285L	ENST00000240335.1	37	c.854	CCDS11629.1	17	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546507	0.27652	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	T;T	0.80393	-1.37;-1.37	5.43	5.43	0.79202	.	0.606804	0.16862	N	0.196488	T	0.72875	0.3515	L	0.29908	0.895	0.26947	N	0.966112	B;B	0.28713	0.22;0.22	B;B	0.27380	0.079;0.079	T	0.60880	-0.7175	9	.	.	.	.	18.245	0.89982	0.0:1.0:0.0:0.0	.	285;285	A5PKU7;P57082	.;TBX4_HUMAN	L	285	ENSP00000377435:S285L;ENSP00000240335:S285L	.	S	+	2	0	TBX4	56912295	0.990000	0.36364	0.141000	0.22245	0.182000	0.23217	7.368000	0.79567	2.561000	0.86390	0.561000	0.74099	TCA	TBX4	-	NULL	ENSG00000121075		0.627	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	42	0.00	0	C	NM_018488		59557513	59557513	+1	no_errors	ENST00000393853	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	0.181	T
