#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
AP2M1	1173	genome.wustl.edu	37	3	183900729	183900729	+	Intron	SNP	T	T	C	rs843365	byFrequency	TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:183900729T>C	ENST00000292807.5	+	11	1321				EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Intron|AP2M1_ENST00000411763.2_Intron|AP2M1_ENST00000439647.1_Intron|AP2M1_ENST00000461733.1_Intron	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			tccgataaactgctgcacctt	0.463													C|||	2648	0.528754	0.5136	0.4481	5008	,	,		19276	0.6012		0.4771	False		,,,				2504	0.5849					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.1173+73T>C	3.37:g.183900729T>C			A6NE12|D3DNT1|P20172|P53679	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.C106R	ENST00000292807.5	37	c.316	CCDS43177.1	3	1112	0.5091575091575091	251	0.5101626016260162	163	0.45027624309392267	354	0.6188811188811189	344	0.45382585751978893	C	0.096	-1.158879	0.01686	.	.	ENSG00000161203	ENST00000442686	.	.	.	3.45	-2.47	0.06442	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.42949	-0.9421	3	.	.	.	.	4.7045	0.12842	0.0:0.285:0.295:0.42	rs843365;rs1709630;rs58096143;rs843365	.	.	.	R	106	.	.	C	+	1	0	AP2M1	185383423	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.008000	0.12788	-0.936000	0.03723	-0.282000	0.10007	TGC	AP2M1	-	pfscan_Clathrin_mu_C	ENSG00000161203		0.463	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	8	0.00	0	T	NM_004068		183900729	183900729	+1	no_start_codon	ENST00000442686	ensembl	human	putative	69_37n	missense	2	85.71	12	SNP	0.000	C
ATOH1	474	genome.wustl.edu	37	4	94751069	94751069	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr4:94751069C>T	ENST00000306011.3	+	1	1028	c.992C>T	c.(991-993)tCg>tTg	p.S331L		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	331					auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		AGCAAAACTTCGCCTCGGTCC	0.542																																						dbGAP											0													91.0	98.0	96.0					4																	94751069		2203	4300	6503	-	-	-	SO:0001583	missense	0			U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.992C>T	4.37:g.94751069C>T	ENSP00000302216:p.Ser331Leu		Q14CT9	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S331L	ENST00000306011.3	37	c.992	CCDS3638.1	4	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602347	0.46423	.	.	ENSG00000172238	ENST00000306011	D	0.98150	-4.75	4.25	4.25	0.50352	.	0.163774	0.42682	D	0.000671	D	0.97529	0.9191	L	0.34521	1.04	0.58432	D	0.999992	D	0.89917	1.0	D	0.78314	0.991	D	0.97965	1.0340	10	0.48119	T	0.1	-11.4984	16.4736	0.84125	0.0:1.0:0.0:0.0	.	331	Q92858	ATOH1_HUMAN	L	331	ENSP00000302216:S331L	ENSP00000302216:S331L	S	+	2	0	ATOH1	94970092	1.000000	0.71417	0.897000	0.35233	0.055000	0.15305	6.897000	0.75671	2.199000	0.70637	0.643000	0.83706	TCG	ATOH1	-	NULL	ENSG00000172238		0.542	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH1	HGNC	protein_coding	OTTHUMT00000253585.1	8	0.00	0	C	NM_005172		94751069	94751069	+1	no_errors	ENST00000306011	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	0.998	T
BRWD1	54014	genome.wustl.edu	37	21	40570878	40570878	+	Missense_Mutation	SNP	A	A	C			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr21:40570878A>C	ENST00000333229.2	-	40	5791	c.5464T>G	c.(5464-5466)Tca>Gca	p.S1822A	BRWD1_ENST00000342449.3_Missense_Mutation_p.S1822A|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1822A	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1822					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GAGTCTTCTGAGTCACTCAGA	0.383																																					Melanoma(170;988 1986 4794 16843 39731)	dbGAP											0													127.0	129.0	128.0					21																	40570878		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.5464T>G	21.37:g.40570878A>C	ENSP00000330753:p.Ser1822Ala		C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1822A	ENST00000333229.2	37	c.5464	CCDS13662.1	21	.	.	.	.	.	.	.	.	.	.	A	14.24	2.476827	0.44044	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.45668	0.89;0.89;0.89	5.48	5.48	0.80851	.	0.120464	0.38164	N	0.001794	T	0.52597	0.1744	M	0.71581	2.175	0.80722	D	1	P;P	0.50443	0.935;0.893	P;B	0.50708	0.648;0.446	T	0.52711	-0.8539	10	0.34782	T	0.22	-7.2609	14.1634	0.65461	1.0:0.0:0.0:0.0	.	1822;1822	Q9NSI6-2;Q9NSI6	.;BRWD1_HUMAN	A	1822	ENSP00000330753:S1822A;ENSP00000344333:S1822A;ENSP00000370178:S1822A	ENSP00000330753:S1822A	S	-	1	0	BRWD1	39492748	1.000000	0.71417	0.994000	0.49952	0.106000	0.19336	4.148000	0.58085	2.084000	0.62774	0.533000	0.62120	TCA	BRWD1	-	NULL	ENSG00000185658		0.383	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD1	HGNC	protein_coding	OTTHUMT00000141398.3	143	0.00	0	A	NM_033656		40570878	40570878	-1	no_errors	ENST00000333229	ensembl	human	known	69_37n	missense	126	13.70	20	SNP	0.999	C
CACNA2D3	55799	genome.wustl.edu	37	3	55107854	55107854	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:55107854C>T	ENST00000474759.1	+	37	3199	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.R1051C|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.R957C|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.R1051C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	1051						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GATCAGAAGGCGCCCAGAATC	0.448																																						dbGAP											0													82.0	82.0	82.0					3																	55107854		1907	4124	6031	-	-	-	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.3151C>T	3.37:g.55107854C>T	ENSP00000419101:p.Arg1051Cys		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R1051C	ENST00000474759.1	37	c.3151	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	19.33	3.807877	0.70797	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55	5.81	4.94	0.65067	.	0.061993	0.64402	D	0.000004	D	0.83069	0.5174	M	0.80508	2.5	0.53688	D	0.999977	D	0.89917	1.0	D	0.67725	0.953	D	0.85338	0.1094	10	0.72032	D	0.01	.	12.9679	0.58494	0.0:0.9257:0.0:0.0743	.	1051	Q8IZS8	CA2D3_HUMAN	C	1051;1051;1051;957;958	ENSP00000389506:R1051C;ENSP00000419101:R1051C;ENSP00000288197:R1051C;ENSP00000417279:R957C	ENSP00000288197:R1051C	R	+	1	0	CACNA2D3	55082894	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.633000	0.54295	1.463000	0.47967	0.637000	0.83480	CGC	CACNA2D3	-	NULL	ENSG00000157445		0.448	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	85	0.00	0	C			55107854	55107854	+1	no_errors	ENST00000288197	ensembl	human	known	69_37n	missense	121	18.24	27	SNP	1.000	T
DRC7	84229	genome.wustl.edu	37	16	57752290	57752290	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr16:57752290G>A	ENST00000360716.3	+	9	1330	c.1109G>A	c.(1108-1110)aGa>aAa	p.R370K	CCDC135_ENST00000394337.4_Missense_Mutation_p.R370K|CCDC135_ENST00000336825.8_Missense_Mutation_p.R305K			Q8IY82	CC135_HUMAN		370					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACCCTGTGAGATGGGAGTAC	0.532																																						dbGAP											0													246.0	218.0	228.0					16																	57752290		2198	4300	6498	-	-	-	SO:0001583	missense	0																														ENST00000360716.3:c.1109G>A	16.37:g.57752290G>A	ENSP00000353942:p.Arg370Lys		A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NULL	p.R370K	ENST00000360716.3	37	c.1109	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	.	8.464	0.856044	0.17106	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.73575	-0.76;-0.76;-0.76	5.62	2.63	0.31362	.	0.224836	0.41194	N	0.000928	T	0.51007	0.1649	N	0.19112	0.55	0.25959	N	0.982645	B;B	0.31931	0.347;0.041	B;B	0.30782	0.12;0.058	T	0.45848	-0.9233	10	0.02654	T	1	-31.7208	8.9285	0.35655	0.301:0.0:0.699:0.0	.	305;370	Q8IY82-2;Q8IY82	.;CC135_HUMAN	K	370;305;370	ENSP00000377869:R370K;ENSP00000338938:R305K;ENSP00000353942:R370K	ENSP00000338938:R305K	R	+	2	0	CCDC135	56309791	0.067000	0.21026	0.996000	0.52242	0.847000	0.48162	0.555000	0.23422	0.327000	0.23409	0.655000	0.94253	AGA	CCDC135	-	NULL	ENSG00000159625		0.532	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	HGNC	protein_coding	OTTHUMT00000433323.2	98	0.00	0	G			57752290	57752290	+1	no_errors	ENST00000360716	ensembl	human	known	69_37n	missense	199	13.48	31	SNP	0.989	A
CCDC136	64753	genome.wustl.edu	37	7	128452972	128452972	+	Missense_Mutation	SNP	G	G	A	rs540834725		TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr7:128452972G>A	ENST00000297788.4	+	14	3119	c.2752G>A	c.(2752-2754)Gac>Aac	p.D918N	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	918						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CCCCCAGAACGACAAGAATGA	0.547																																						dbGAP											0													34.0	36.0	35.0					7																	128452972		1924	4141	6065	-	-	-	SO:0001583	missense	0				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2752G>A	7.37:g.128452972G>A	ENSP00000297788:p.Asp918Asn		A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	NULL	p.D918N	ENST00000297788.4	37	c.2752	CCDS47704.1	7	.	.	.	.	.	.	.	.	.	.	G	22.8	4.343438	0.82022	.	.	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672	T	0.36520	1.25	5.56	4.46	0.54185	.	0.274240	0.32134	N	0.006536	T	0.45115	0.1326	M	0.66939	2.045	0.25588	N	0.986721	D;P;D	0.67145	0.978;0.939;0.996	P;B;P	0.57911	0.525;0.272;0.829	T	0.34354	-0.9832	10	0.18710	T	0.47	-25.2123	7.2286	0.26030	0.1424:0.0:0.8576:0.0	.	918;918;918	Q96JN2-4;Q96JN2-2;Q96JN2	.;.;CC136_HUMAN	N	918;918;918;509	ENSP00000297788:D918N	ENSP00000297788:D918N	D	+	1	0	CCDC136	128240208	0.998000	0.40836	0.917000	0.36280	0.145000	0.21501	2.716000	0.47219	2.774000	0.95407	0.655000	0.94253	GAC	CCDC136	-	NULL	ENSG00000128596		0.547	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC136	HGNC	protein_coding	OTTHUMT00000350641.1	28	0.00	0	G	NM_022742		128452972	128452972	+1	no_errors	ENST00000297788	ensembl	human	known	69_37n	missense	54	16.92	11	SNP	0.719	A
CD163L1	283316	genome.wustl.edu	37	12	7521559	7521559	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr12:7521559G>T	ENST00000313599.3	-	16	4099	c.4042C>A	c.(4042-4044)Cag>Aag	p.Q1348K	CD163L1_ENST00000416109.2_Missense_Mutation_p.Q1358K|CD163L1_ENST00000396630.1_Missense_Mutation_p.Q1348K			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1348						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTCAGCGACTGTCCTgagaga	0.438																																						dbGAP											0													111.0	102.0	105.0					12																	7521559		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.4042C>A	12.37:g.7521559G>T	ENSP00000315945:p.Gln1348Lys		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.Q1348K	ENST00000313599.3	37	c.4042	CCDS8577.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.821|2.821	-0.244781|-0.244781	0.05906|0.05906	.|.	.|.	ENSG00000177675|ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630|ENST00000539726	T;T;T|.	0.27720|.	1.65;1.65;1.65|.	0.802|0.802	-0.334|-0.334	0.12666|0.12666	Speract/scavenger receptor-related (1);|.	.|.	.|.	.|.	.|.	T|T	0.14141|0.14141	0.0342|0.0342	N|N	0.05199|0.05199	-0.095|-0.095	0.09310|0.09310	N|N	1|1	B;B|.	0.21381|.	0.028;0.055|.	B;B|.	0.12837|.	0.002;0.008|.	T|T	0.27226|0.27226	-1.0080|-1.0080	9|5	0.05833|.	T|.	0.94|.	.|.	4.4069|4.4069	0.11414|0.11414	0.0:0.4278:0.5722:0.0|0.0:0.4278:0.5722:0.0	.|.	1358;1348|.	E7EVK4;Q9NR16|.	.;C163B_HUMAN|.	K|K	1348;1358;1348|3	ENSP00000315945:Q1348K;ENSP00000393474:Q1358K;ENSP00000379871:Q1348K|.	ENSP00000315945:Q1348K|.	Q|T	-|-	1|2	0|0	CD163L1|CD163L1	7412826|7412826	0.029000|0.029000	0.19370|0.19370	0.033000|0.033000	0.17914|0.17914	0.385000|0.385000	0.30292|0.30292	-0.177000|-0.177000	0.09796|0.09796	-0.145000|-0.145000	0.11294|0.11294	0.455000|0.455000	0.32223|0.32223	CAG|ACA	CD163L1	-	superfamily_Srcr_rcpt-rel	ENSG00000177675		0.438	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD163L1	HGNC	protein_coding	OTTHUMT00000399329.1	134	0.00	0	G	NM_174941		7521559	7521559	-1	no_errors	ENST00000313599	ensembl	human	known	69_37n	missense	303	17.39	64	SNP	0.043	T
CD19	930	genome.wustl.edu	37	16	28948420	28948420	+	Silent	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr16:28948420G>A	ENST00000324662.3	+	8	1205	c.1161G>A	c.(1159-1161)gcG>gcA	p.A387A	CD19_ENST00000567541.1_Silent_p.A387A|CD19_ENST00000538922.1_Silent_p.A387A			P15391	CD19_HUMAN	CD19 molecule	387					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACGTCCAGGCGGATGGAGCCT	0.682																																						dbGAP											0													17.0	19.0	18.0					16																	28948420		2189	4292	6481	-	-	-	SO:0001819	synonymous_variant	0				CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.1161G>A	16.37:g.28948420G>A			A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	smart_Ig_sub,pfscan_Ig-like	p.A387	ENST00000324662.3	37	c.1161	CCDS10644.1	16																																																																																			CD19	-	NULL	ENSG00000177455		0.682	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD19	HGNC	protein_coding	OTTHUMT00000214152.2	9	0.00	0	G			28948420	28948420	+1	no_errors	ENST00000538922	ensembl	human	known	69_37n	silent	24	41.46	17	SNP	0.217	A
CD84	8832	genome.wustl.edu	37	1	160519760	160519760	+	Missense_Mutation	SNP	A	A	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr1:160519760A>T	ENST00000311224.4	-	7	985	c.919T>A	c.(919-921)Tcc>Acc	p.S307T	RP11-528G1.2_ENST00000446952.1_RNA|CD84_ENST00000368054.3_Missense_Mutation_p.S290T|CD84_ENST00000368048.3_Missense_Mutation_p.S301T|CD84_ENST00000368051.3_Missense_Mutation_p.L257H|CD84_ENST00000534968.1_Missense_Mutation_p.S176T	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	307					blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTTCCTTGGAGGGAAGCACC	0.498																																						dbGAP											0													96.0	87.0	90.0					1																	160519760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.919T>A	1.37:g.160519760A>T	ENSP00000312367:p.Ser307Thr		B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.S307T	ENST00000311224.4	37	c.919	CCDS53396.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.06|13.06	2.124984|2.124984	0.37533|0.37533	.|.	.|.	ENSG00000066294|ENSG00000066294	ENST00000368051|ENST00000534968;ENST00000368054;ENST00000368048;ENST00000311224	T|T;T;T;T	0.39997|0.58060	1.05|2.58;0.36;0.36;0.39	3.95|3.95	-5.43|-5.43	0.02632|0.02632	.|.	.|1.887090	.|0.02334	.|N	.|0.074196	T|T	0.08088|0.08088	0.0202|0.0202	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|B;B;B;B	0.09022|0.10296	0.002|0.003;0.001;0.002;0.002	B|B;B;B;B	0.09377|0.06405	0.004|0.002;0.001;0.002;0.002	T|T	0.06679|0.06679	-1.0813|-1.0813	8|9	0.15499|0.14252	T|T	0.54|0.57	0.1011|0.1011	0.2256|0.2256	0.00173|0.00173	0.2134:0.2375:0.1978:0.3512|0.2134:0.2375:0.1978:0.3512	.|.	257|176;307;301;290	Q9UIB8-5|Q9UIB8-7;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.|.;SLAF5_HUMAN;.;.	H|T	257|176;290;301;307	ENSP00000357030:L257H|ENSP00000442845:S176T;ENSP00000357033:S290T;ENSP00000357027:S301T;ENSP00000312367:S307T	ENSP00000357030:L257H|ENSP00000312367:S307T	L|S	-|-	2|1	0|0	CD84|CD84	158786384|158786384	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.410000|0.410000	0.31052|0.31052	-0.831000|-0.831000	0.04405|0.04405	-1.127000|-1.127000	0.02925|0.02925	0.460000|0.460000	0.39030|0.39030	CTC|TCC	CD84	-	NULL	ENSG00000066294		0.498	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CD84	HGNC	protein_coding	OTTHUMT00000059092.1	77	0.00	0	A	NM_003874		160519760	160519760	-1	no_errors	ENST00000311224	ensembl	human	known	69_37n	missense	76	21.65	21	SNP	0.000	T
CDK12	51755	genome.wustl.edu	37	17	37682239	37682239	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr17:37682239C>T	ENST00000447079.4	+	13	3463	c.3430C>T	c.(3430-3432)Cca>Tca	p.P1144S	CDK12_ENST00000430627.2_Missense_Mutation_p.P1144S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1144					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCACTCCAACCCAGAGATGCA	0.537			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												dbGAP		Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0													83.0	71.0	75.0					17																	37682239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3430C>T	17.37:g.37682239C>T	ENSP00000398880:p.Pro1144Ser		A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P1144S	ENST00000447079.4	37	c.3430	CCDS11337.1	17	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795115	0.50208	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.69926	-0.44;-0.42	5.07	5.07	0.68467	.	0.000000	0.47455	D	0.000236	T	0.75664	0.3880	L	0.43152	1.355	0.54753	D	0.999987	D;D;D	0.71674	0.997;0.997;0.998	P;P;D	0.66351	0.838;0.877;0.943	T	0.75010	-0.3468	10	0.42905	T	0.14	-7.988	18.4269	0.90612	0.0:1.0:0.0:0.0	.	1143;1144;1144	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	S	1144	ENSP00000407720:P1144S;ENSP00000398880:P1144S	ENSP00000407720:P1144S	P	+	1	0	CDK12	34935765	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.709000	0.54853	2.526000	0.85167	0.650000	0.86243	CCA	CDK12	-	NULL	ENSG00000167258		0.537	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDK12	HGNC	protein_coding	OTTHUMT00000256941.4	27	0.00	0	C	NM_016507		37682239	37682239	+1	no_errors	ENST00000447079	ensembl	human	known	69_37n	missense	131	11.49	17	SNP	1.000	T
CNTN3	5067	genome.wustl.edu	37	3	74418526	74418526	+	Splice_Site	SNP	T	T	C			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:74418526T>C	ENST00000263665.6	-	7	789		c.e7-2			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGTATGGGACTAAGAAGAAAA	0.368																																						dbGAP											0													40.0	40.0	40.0					3																	74418526		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.762-2A>G	3.37:g.74418526T>C			B9EK50|Q9H039	Splice_Site	SNP	-	e7-2	ENST00000263665.6	37	c.762-2	CCDS33790.1	3	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186751	0.78789	.	.	ENSG00000113805	ENST00000263665	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0749	0.72069	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNTN3	74501216	1.000000	0.71417	0.836000	0.33094	0.956000	0.61745	7.319000	0.79040	1.960000	0.56953	0.482000	0.46254	.	CNTN3	-	-	ENSG00000113805		0.368	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	33	0.00	0	T	NM_020872	Intron	74418526	74418526	-1	no_errors	ENST00000263665	ensembl	human	known	69_37n	splice_site	29	14.71	5	SNP	1.000	C
COL6A6	131873	genome.wustl.edu	37	3	130313159	130313159	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:130313159G>A	ENST00000358511.6	+	17	4536	c.4505G>A	c.(4504-4506)cGt>cAt	p.R1502H	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1502H	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1502	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCTGGTGACCGTGGAGCAAAG	0.458																																						dbGAP											0													77.0	83.0	81.0					3																	130313159		1871	4091	5962	-	-	-	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4505G>A	3.37:g.130313159G>A	ENSP00000351310:p.Arg1502His		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1502H	ENST00000358511.6	37	c.4505	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226131	0.01518	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.93247	-3.19;-3.19	5.17	-5.09	0.02920	.	1.191030	0.06333	N	0.706531	D	0.89873	0.6841	M	0.71920	2.185	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.73623	-0.3924	10	0.38643	T	0.18	.	4.7077	0.12858	0.4903:0.0919:0.325:0.0928	.	1502	A6NMZ7	CO6A6_HUMAN	H	1502	ENSP00000351310:R1502H;ENSP00000399236:R1502H	ENSP00000351310:R1502H	R	+	2	0	COL6A6	131795849	0.000000	0.05858	0.005000	0.12908	0.077000	0.17291	-1.002000	0.03686	-1.943000	0.01039	-1.761000	0.00669	CGT	COL6A6	-	NULL	ENSG00000206384		0.458	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	84	0.00	0	G	NM_001102608		130313159	130313159	+1	no_errors	ENST00000358511	ensembl	human	known	69_37n	missense	56	21.13	15	SNP	0.003	A
CXCL6	6372	genome.wustl.edu	37	4	74702958	74702958	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr4:74702958C>T	ENST00000226317.5	+	3	535	c.281C>T	c.(280-282)cCg>cTg	p.P94L	CXCL6_ENST00000515050.1_Missense_Mutation_p.P94L|CXCL6_ENST00000503446.1_3'UTR	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	94					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|heparin binding (GO:0008201)			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGTCTGGACCCGGAAGCCCCT	0.443																																						dbGAP											0													89.0	97.0	95.0					4																	74702958		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83303	CCDS3560.1	4q13.3	2013-02-25	2012-10-17	2002-08-23	ENSG00000124875	ENSG00000124875		"""Endogenous ligands"""	10643	protein-coding gene	gene with protein product	"""granulocyte chemotactic protein 2"""	138965	"""small inducible cytokine subfamily B (Cys-X-Cys), member 6 (granulocyte chemotactic protein 2)"", ""chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2)"""	SCYB6		9465307	Standard	NM_002993		Approved	GCP-2, CKA-3	uc003hhf.3	P80162	OTTHUMG00000130010	ENST00000226317.5:c.281C>T	4.37:g.74702958C>T	ENSP00000226317:p.Pro94Leu		B2R4X3|Q4W5D4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	p.P94L	ENST00000226317.5	37	c.281	CCDS3560.1	4	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559016	0.45590	.	.	ENSG00000124875	ENST00000226317;ENST00000515050	T;T	0.12984	2.63;2.63	3.87	3.87	0.44632	Chemokine interleukin-8-like domain (3);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.93328	3.405	0.54753	D	0.999981	D	0.89917	1.0	D	0.91635	0.999	T	0.57435	-0.7812	10	0.87932	D	0	.	11.5238	0.50567	0.0:1.0:0.0:0.0	.	94	P80162	CXCL6_HUMAN	L	94	ENSP00000226317:P94L;ENSP00000424819:P94L	ENSP00000226317:P94L	P	+	2	0	CXCL6	74921822	1.000000	0.71417	0.997000	0.53966	0.035000	0.12851	4.003000	0.57061	2.150000	0.67090	0.650000	0.86243	CCG	CXCL6	-	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC	ENSG00000124875		0.443	CXCL6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXCL6	HGNC	protein_coding	OTTHUMT00000252283.2	267	0.00	0	C	NM_002993		74702958	74702958	+1	no_errors	ENST00000226317	ensembl	human	known	69_37n	missense	183	23.43	56	SNP	1.000	T
F2RL1	2150	genome.wustl.edu	37	5	76128711	76128711	+	Silent	SNP	C	C	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr5:76128711C>T	ENST00000296677.4	+	2	485	c.279C>T	c.(277-279)aaC>aaT	p.N93N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	93					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.N93N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGCCAAGTAACGGCATGGCCC	0.483																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)											207.0	193.0	198.0					5																	76128711		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.279C>T	5.37:g.76128711C>T			Q13317|Q13346|Q53XJ8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,prints_Pro_rcpt_2,prints_Protea_act_rcpt,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam	p.N93	ENST00000296677.4	37	c.279	CCDS4033.1	5																																																																																			F2RL1	-	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000164251		0.483	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2RL1	HGNC	protein_coding	OTTHUMT00000219957.2	123	0.00	0	C			76128711	76128711	+1	no_errors	ENST00000296677	ensembl	human	known	69_37n	silent	146	17.98	32	SNP	0.952	T
GAB3	139716	genome.wustl.edu	37	X	153924213	153924213	+	Silent	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chrX:153924213G>A	ENST00000369575.3	-	8	1537	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Silent_p.D503D	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	502					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCTTTCTTCGTCTTCTCTGG	0.348																																						dbGAP											0													95.0	77.0	83.0					X																	153924213		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.1506C>T	X.37:g.153924213G>A			A6NHF8|E9PB44	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D503	ENST00000369575.3	37	c.1509	CCDS14760.1	X																																																																																			GAB3	-	NULL	ENSG00000160219		0.348	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	202	0.00	0	G	NM_001081573		153924213	153924213	-1	no_errors	ENST00000424127	ensembl	human	known	69_37n	silent	114	15.56	21	SNP	1.000	A
GON4L	54856	genome.wustl.edu	37	1	155823258	155823258	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr1:155823258A>G	ENST00000368331.1	-	2	362	c.314T>C	c.(313-315)cTa>cCa	p.L105P	GON4L_ENST00000361040.5_Missense_Mutation_p.L105P|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.L105P|GON4L_ENST00000271883.5_Missense_Mutation_p.L105P	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	105					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAAGGAAGGTAGGGTGATTCC	0.458																																						dbGAP											0													160.0	151.0	154.0					1																	155823258		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.314T>C	1.37:g.155823258A>G	ENSP00000357315:p.Leu105Pro		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.L105P	ENST00000368331.1	37	c.314		1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048630	0.36181	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.22134	2.14;2.14;2.14;1.97	4.48	4.48	0.54585	.	0.445574	0.16719	N	0.202336	T	0.20659	0.0497	L	0.32530	0.975	0.19300	N	0.999976	D;D;D	0.76494	0.999;0.984;0.99	D;P;P	0.87578	0.998;0.77;0.885	T	0.05241	-1.0897	10	0.87932	D	0	.	10.0838	0.42406	1.0:0.0:0.0:0.0	.	105;105;105	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	P	105	ENSP00000396117:L105P;ENSP00000357315:L105P;ENSP00000271883:L105P;ENSP00000354322:L105P	ENSP00000271883:L105P	L	-	2	0	GON4L	154089882	0.070000	0.21116	0.008000	0.14137	0.235000	0.25334	3.974000	0.56852	1.871000	0.54225	0.459000	0.35465	CTA	GON4L	-	NULL	ENSG00000116580		0.458	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		133	0.00	0	A	NM_032292		155823258	155823258	-1	no_errors	ENST00000368331	ensembl	human	known	69_37n	missense	86	52.22	94	SNP	0.017	G
HIST3H3	8290	genome.wustl.edu	37	1	228612911	228612911	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr1:228612911G>A	ENST00000366696.1	-	1	115	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	39					telomere maintenance (GO:0000723)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				GTAGCGGTGCGGCTTCTTCAC	0.672																																						dbGAP											0													43.0	50.0	48.0					1																	228612911		2200	4297	6497	-	-	-	SO:0001583	missense	0			Z49861	CCDS1572.1	1q42.13	2012-09-19	2006-10-11	2003-02-21	ENSG00000168148	ENSG00000168148		"""Histones / Replication-dependent"""	4778	protein-coding gene	gene with protein product		602820	"""H3 histone family, member T"", ""histone 3, H3"""	H3FT		8834248, 12408966	Standard	NM_003493		Approved	H3t, H3/g, H3.4	uc001hsx.1	Q16695	OTTHUMG00000040044	ENST00000366696.1:c.116C>T	1.37:g.228612911G>A	ENSP00000355657:p.Pro39Leu		B2R5K3|Q6FGU4	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.P39L	ENST00000366696.1	37	c.116	CCDS1572.1	1	.	.	.	.	.	.	.	.	.	.	g	9.895	1.205415	0.22205	.	.	ENSG00000168148	ENST00000366696	T	0.46451	0.87	3.83	3.83	0.44106	Histone-fold (2);	0.000000	0.39210	N	0.001435	T	0.60431	0.2268	M	0.88704	2.975	0.54753	D	0.999987	D	0.61080	0.989	P	0.52386	0.697	T	0.71695	-0.4515	10	0.87932	D	0	.	14.0645	0.64819	0.0:0.0:1.0:0.0	.	39	Q16695	H31T_HUMAN	L	39	ENSP00000355657:P39L	ENSP00000355657:P39L	P	-	2	0	HIST3H3	226679534	1.000000	0.71417	0.963000	0.40424	0.034000	0.12701	7.153000	0.77428	2.403000	0.81681	0.598000	0.82781	CCG	HIST3H3	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000168148		0.672	HIST3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H3	HGNC	protein_coding	OTTHUMT00000096595.2	21	0.00	0	G	NM_003493		228612911	228612911	-1	no_errors	ENST00000366696	ensembl	human	known	69_37n	missense	35	33.96	18	SNP	1.000	A
IFT88	8100	genome.wustl.edu	37	13	21165111	21165111	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr13:21165111G>T	ENST00000319980.6	+	7	570	c.243G>T	c.(241-243)aaG>aaT	p.K81N	IFT88_ENST00000537103.1_Missense_Mutation_p.K53N|IFT88_ENST00000382778.4_Missense_Mutation_p.K81N|IFT88_ENST00000351808.5_Missense_Mutation_p.K72N	NM_175605.3	NP_783195.2	Q13099	IFT88_HUMAN	intraflagellar transport 88	81					anterior/posterior pattern specification (GO:0009952)|cardiac muscle cell differentiation (GO:0055007)|cardiac septum morphogenesis (GO:0060411)|cilium morphogenesis (GO:0060271)|cochlea development (GO:0090102)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|embryonic digit morphogenesis (GO:0042733)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|epithelial cell morphogenesis (GO:0003382)|eye development (GO:0001654)|forebrain morphogenesis (GO:0048853)|heart formation (GO:0060914)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|liver development (GO:0001889)|lung vasculature development (GO:0060426)|negative regulation of epithelial cell proliferation (GO:0050680)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|protein localization (GO:0008104)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of cilium assembly (GO:1902017)|regulation of fat cell differentiation (GO:0045598)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|regulation of protein processing (GO:0070613)|regulation of smoothened signaling pathway (GO:0008589)|response to fluid shear stress (GO:0034405)|smoothened signaling pathway (GO:0007224)|sperm axoneme assembly (GO:0007288)|spermatid nucleus elongation (GO:0007290)|spinal cord dorsal/ventral patterning (GO:0021513)|telencephalon development (GO:0021537)	acrosomal membrane (GO:0002080)|apical part of cell (GO:0045177)|axonemal basal plate (GO:0097541)|centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|kinocilium (GO:0060091)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)|photoreceptor connecting cilium (GO:0032391)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	27		all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244)		all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528)		ACTAGTCCAAGACATCTCTGG	0.348																																						dbGAP											0													127.0	125.0	125.0					13																	21165111		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK058172	CCDS31944.1, CCDS31945.1	13q12.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000032742	ENSG00000032742		"""Intraflagellar transport homologs"", ""Tetratricopeptide (TTC) repeat domain containing"""	20606	protein-coding gene	gene with protein product	"""polaris homolog"""	600595	"""tetratricopeptide repeat domain 10"", ""intraflagellar transport 88 homolog (Chlamydomonas)"""	TTC10		7633404	Standard	XM_005266546		Approved	hTg737, Tg737, D13S1056E, MGC26259	uc001uni.3	Q13099	OTTHUMG00000016517	ENST00000319980.6:c.243G>T	13.37:g.21165111G>T	ENSP00000323580:p.Lys81Asn		A2A491|B4DUS2|Q5SZJ6|Q8N719	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.K81N	ENST00000319980.6	37	c.243	CCDS31944.1	13	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510142	0.44660	.	.	ENSG00000032742	ENST00000382778;ENST00000351808;ENST00000319980;ENST00000537103	T;T;T;T	0.31769	1.48;1.48;1.48;1.51	5.28	3.51	0.40186	.	0.056252	0.64402	D	0.000001	T	0.21022	0.0506	L	0.34521	1.04	0.42075	D	0.991224	B;P	0.43094	0.372;0.799	B;B	0.38378	0.069;0.272	T	0.03545	-1.1026	10	0.23302	T	0.38	-23.3662	11.5785	0.50877	0.1538:0.0:0.8462:0.0	.	53;81	F5H6C2;Q13099	.;IFT88_HUMAN	N	81;72;81;53	ENSP00000372228:K81N;ENSP00000261632:K72N;ENSP00000323580:K81N;ENSP00000437719:K53N	ENSP00000323580:K81N	K	+	3	2	IFT88	20063111	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.321000	0.51999	1.358000	0.45922	0.655000	0.94253	AAG	IFT88	-	NULL	ENSG00000032742		0.348	IFT88-002	KNOWN	basic|CCDS	protein_coding	IFT88	HGNC	protein_coding	OTTHUMT00000044075.3	315	0.00	0	G	NM_006531		21165111	21165111	+1	no_errors	ENST00000319980	ensembl	human	known	69_37n	missense	75	44.44	60	SNP	1.000	T
IRF3	3661	genome.wustl.edu	37	19	50163080	50163080	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr19:50163080G>A	ENST00000597198.1	-	8	1490	c.1109C>T	c.(1108-1110)aCg>aTg	p.T370M	IRF3_ENST00000599223.1_Missense_Mutation_p.T243M|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000377139.3_Missense_Mutation_p.T370M|IRF3_ENST00000598808.1_Missense_Mutation_p.T224M|IRF3_ENST00000601291.1_Silent_p.H375H|IRF3_ENST00000596765.1_Missense_Mutation_p.T97M|IRF3_ENST00000600022.1_Missense_Mutation_p.T97M|IRF3_ENST00000377135.4_Missense_Mutation_p.T243M|IRF3_ENST00000599144.1_Missense_Mutation_p.T224M|IRF3_ENST00000596822.1_Silent_p.H58H|IRF3_ENST00000600911.1_Silent_p.H331H|IRF3_ENST00000309877.7_Missense_Mutation_p.T370M|IRF3_ENST00000593922.1_Missense_Mutation_p.T224M			Q14653	IRF3_HUMAN	interferon regulatory factor 3	370					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dsRNA (GO:0071359)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage apoptotic process (GO:0071888)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of interferon-beta biosynthetic process (GO:0045358)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of type I interferon production (GO:0032480)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|programmed necrotic cell death (GO:0097300)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		CCTGAGGCACGTGGGCACAAC	0.602																																						dbGAP											0													60.0	58.0	59.0					19																	50163080		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS12775.1, CCDS56099.1, CCDS59407.1, CCDS59408.1, CCDS59409.1	19q13.3-q13.4	2008-07-16				ENSG00000126456			6118	protein-coding gene	gene with protein product		603734				8524823	Standard	NM_001571		Approved		uc002pow.3	Q14653		ENST00000597198.1:c.1109C>T	19.37:g.50163080G>A	ENSP00000469113:p.Thr370Met		A8K7L2|B2RAZ3|Q5FBY1|Q5FBY2|Q5FBY4|Q7Z5G6	Missense_Mutation	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.T370M	ENST00000597198.1	37	c.1109	CCDS12775.1	19	.	.	.	.	.	.	.	.	.	.	G	7.460	0.644573	0.14451	.	.	ENSG00000126456	ENST00000377139;ENST00000309877;ENST00000377135	D;D;D	0.94184	-3.37;-3.37;-3.37	4.7	2.57	0.30868	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	.	.	.	.	D	0.87422	0.6173	.	.	.	0.80722	D	1	D;D	0.53312	0.959;0.959	B;B	0.40864	0.34;0.342	T	0.81669	-0.0828	8	0.30078	T	0.28	-2.4095	6.1167	0.20130	0.2391:0.0:0.7609:0.0	.	370;243	Q14653;Q5FBY1	IRF3_HUMAN;.	M	370;370;243	ENSP00000366344:T370M;ENSP00000310127:T370M;ENSP00000366339:T243M	ENSP00000310127:T370M	T	-	2	0	IRF3	54854892	0.582000	0.26749	0.666000	0.29783	0.416000	0.31233	0.711000	0.25764	0.575000	0.29434	0.555000	0.69702	ACG	IRF3	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain	ENSG00000126456		0.602	IRF3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IRF3	HGNC	protein_coding	OTTHUMT00000465962.1	47	0.00	0	G	NM_001571		50163080	50163080	-1	no_errors	ENST00000309877	ensembl	human	known	69_37n	missense	103	34.39	54	SNP	0.669	A
ITGA5	3678	genome.wustl.edu	37	12	54799461	54799461	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr12:54799461C>T	ENST00000293379.4	-	11	1264	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	335					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|memory (GO:0007613)|negative regulation of anoikis (GO:2000811)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|viral process (GO:0016032)|wound healing, spreading of epidermal cells (GO:0035313)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	metal ion binding (GO:0046872)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor 2 binding (GO:0043184)	p.V335I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCCCATTGACGTCTGTGGCG	0.547																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											85.0	73.0	77.0					12																	54799461		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8880.1	12q11-q13	2010-03-23				ENSG00000161638		"""CD molecules"", ""Integrins"""	6141	protein-coding gene	gene with protein product		135620		FNRA		2454952	Standard	NM_002205		Approved	CD49e	uc001sga.3	P08648	OTTHUMG00000169841	ENST00000293379.4:c.1003G>A	12.37:g.54799461C>T	ENSP00000293379:p.Val335Ile		Q96HA5	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.V335I	ENST00000293379.4	37	c.1003	CCDS8880.1	12	.	.	.	.	.	.	.	.	.	.	c	0.021	-1.429891	0.01117	.	.	ENSG00000161638	ENST00000293379	T	0.68331	-0.32	4.36	-8.71	0.00848	.	0.656550	0.14516	N	0.314777	T	0.28001	0.0690	N	0.02658	-0.545	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.28776	-1.0033	10	0.06099	T	0.92	.	10.7933	0.46445	0.0:0.465:0.3409:0.1941	.	335	P08648	ITA5_HUMAN	I	335	ENSP00000293379:V335I	ENSP00000293379:V335I	V	-	1	0	ITGA5	53085728	0.018000	0.18449	0.011000	0.14972	0.525000	0.34531	-1.069000	0.03444	-2.783000	0.00359	-1.852000	0.00566	GTC	ITGA5	-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000161638		0.547	ITGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA5	HGNC	protein_coding	OTTHUMT00000406174.1	52	0.00	0	C			54799461	54799461	-1	no_errors	ENST00000293379	ensembl	human	known	69_37n	missense	87	17.92	19	SNP	0.057	T
ITIH3	3699	genome.wustl.edu	37	3	52833413	52833413	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:52833413T>A	ENST00000449956.2	+	8	821	c.815T>A	c.(814-816)tTc>tAc	p.F272Y	ITIH3_ENST00000416872.2_Missense_Mutation_p.F272Y|ITIH3_ENST00000465243.2_3'UTR	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	272					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TTCGTGCACTTCTTTGCACCT	0.517																																						dbGAP											0													59.0	61.0	60.0					3																	52833413		1995	4178	6173	-	-	-	SO:0001583	missense	0				CCDS46845.1	3p21.1	2011-10-26	2011-10-26		ENSG00000162267	ENSG00000162267			6168	protein-coding gene	gene with protein product	"""pre-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha-trypsin inhibitor heavy chain H3"""	146650	"""inter-alpha (globulin) inhibitor, H3 polypeptide"", ""inter-alpha (globulin) inhibitor H3"""			2465147, 10100603	Standard	NM_002217		Approved	H3P	uc003dfv.2	Q06033	OTTHUMG00000158956	ENST00000449956.2:c.815T>A	3.37:g.52833413T>A	ENSP00000415769:p.Phe272Tyr		Q3B7H5|Q53F06|Q6LAM2|Q99085	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.F272Y	ENST00000449956.2	37	c.815	CCDS46845.1	3	.	.	.	.	.	.	.	.	.	.	T	16.11	3.031410	0.54790	.	.	ENSG00000162267	ENST00000398670;ENST00000536431;ENST00000273291;ENST00000416872;ENST00000449956	T;T	0.02606	4.23;4.86	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.05593	0.0147	L	0.37697	1.125	0.38789	D	0.954945	P;D	0.59357	0.779;0.985	B;P	0.58013	0.232;0.831	T	0.54159	-0.8335	10	0.10636	T	0.68	-31.7346	10.0786	0.42375	0.15:0.0:0.0:0.85	.	272;272	E7ET33;Q06033	.;ITIH3_HUMAN	Y	272;260;267;272;272	ENSP00000413922:F272Y;ENSP00000415769:F272Y	ENSP00000273291:F267Y	F	+	2	0	ITIH3	52808453	0.713000	0.27926	1.000000	0.80357	0.993000	0.82548	-0.038000	0.12144	2.326000	0.78906	0.533000	0.62120	TTC	ITIH3	-	NULL	ENSG00000162267		0.517	ITIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH3	HGNC	protein_coding	OTTHUMT00000352668.2	55	0.00	0	T	NM_002217		52833413	52833413	+1	no_errors	ENST00000449956	ensembl	human	known	69_37n	missense	144	17.24	30	SNP	1.000	A
KIAA1191	57179	genome.wustl.edu	37	5	175782616	175782616	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr5:175782616delC	ENST00000298569.4	-	4	698	c.165delG	c.(163-165)tggfs	p.W55fs	KIAA1191_ENST00000393725.2_Frame_Shift_Del_p.W36fs|RP11-843P14.1_ENST00000512934.1_RNA|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000510164.1_Frame_Shift_Del_p.W55fs|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000393728.2_Intron	NM_020444.3	NP_065177.2	Q96A73	P33MX_HUMAN	KIAA1191	55						cytoplasm (GO:0005737)	oxidoreductase activity (GO:0016491)			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TCACTGGCTTCCAAGGGACGC	0.587																																						dbGAP											0													122.0	100.0	107.0					5																	175782616		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC010448	CCDS4399.1, CCDS43402.1, CCDS75373.1	5q35.2	2008-02-05			ENSG00000122203	ENSG00000122203			29209	protein-coding gene	gene with protein product						10574461, 10565538	Standard	XM_005265941		Approved	FLJ21022	uc003mdy.3	Q96A73	OTTHUMG00000130656	ENST00000298569.4:c.165delG	5.37:g.175782616delC	ENSP00000298569:p.Trp55fs		B2RD69|B8K1S6|Q6IA24|Q8NDU3|Q9BRE5|Q9H7D5|Q9ULM9	Frame_Shift_Del	DEL	NULL	p.W55fs	ENST00000298569.4	37	c.165	CCDS4399.1	5																																																																																			KIAA1191	-	NULL	ENSG00000122203		0.587	KIAA1191-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1191	HGNC	protein_coding	OTTHUMT00000253146.2	20	0.00	0	C	NM_020444		175782616	175782616	-1	no_errors	ENST00000298569	ensembl	human	known	69_37n	frame_shift_del	43	12.00	6	DEL	1.000	-
KIAA1210	57481	genome.wustl.edu	37	X	118223625	118223625	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chrX:118223625C>T	ENST00000402510.2	-	11	1567	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	523										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCCTGACTCCGAGAAGCATC	0.438																																						dbGAP											0													257.0	247.0	250.0					X																	118223625		2129	4240	6369	-	-	-	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1568G>A	X.37:g.118223625C>T	ENSP00000384670:p.Arg523Gln		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.R523Q	ENST00000402510.2	37	c.1568	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	6.657	0.489737	0.12702	.	.	ENSG00000250423	ENST00000402510	T	0.09817	2.94	4.35	-8.19	0.01049	.	.	.	.	.	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.43845	-0.9366	9	0.17832	T	0.49	.	7.0494	0.25065	0.0:0.16:0.3416:0.4984	.	523	Q9ULL0	K1210_HUMAN	Q	523	ENSP00000384670:R523Q	ENSP00000384670:R523Q	R	-	2	0	RP13-347D8.6	118107653	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.870000	0.04228	-1.790000	0.01263	0.462000	0.41574	CGG	KIAA1210	-	NULL	ENSG00000250423		0.438	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	350	0.28	1	C	NM_020721		118223625	118223625	-1	no_errors	ENST00000402510	ensembl	human	known	69_37n	missense	192	49.34	187	SNP	0.000	T
KLHDC8B	200942	genome.wustl.edu	37	3	49212375	49212375	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:49212375G>C	ENST00000332780.2	+	4	951	c.742G>C	c.(742-744)Gtg>Ctg	p.V248L	KLHDC8B_ENST00000476495.2_3'UTR|C3orf84_ENST00000443990.1_5'Flank	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	248						cytoplasm (GO:0005737)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGTCAACACTGTGGAGATGTT	0.582																																						dbGAP											0													72.0	68.0	69.0					3																	49212375		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2791.1	3p21.31	2008-02-05			ENSG00000185909	ENSG00000185909			28557	protein-coding gene	gene with protein product		613169					Standard	NM_173546		Approved	MGC35097	uc003cwh.3	Q8IXV7	OTTHUMG00000156814	ENST00000332780.2:c.742G>C	3.37:g.49212375G>C	ENSP00000327468:p.Val248Leu			Missense_Mutation	SNP	pfam_Kelch_1,smart_Kelch_1	p.V248L	ENST00000332780.2	37	c.742	CCDS2791.1	3	.	.	.	.	.	.	.	.	.	.	G	26.9	4.780852	0.90195	.	.	ENSG00000185909	ENST00000332780	D	0.85629	-2.01	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.063217	0.64402	D	0.000008	D	0.89410	0.6707	M	0.65498	2.005	0.80722	D	1	P;P	0.50369	0.921;0.934	B;P	0.51701	0.346;0.677	D	0.89697	0.3902	10	0.72032	D	0.01	-24.7622	19.4161	0.94700	0.0:0.0:1.0:0.0	.	202;248	B4DFM2;Q8IXV7	.;KLD8B_HUMAN	L	248	ENSP00000327468:V248L	ENSP00000327468:V248L	V	+	1	0	KLHDC8B	49187379	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.538000	0.73852	2.837000	0.97791	0.655000	0.94253	GTG	KLHDC8B	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000185909		0.582	KLHDC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC8B	HGNC	protein_coding	OTTHUMT00000345974.1	42	0.00	0	G	NM_173546		49212375	49212375	+1	no_errors	ENST00000332780	ensembl	human	known	69_37n	missense	113	15.04	20	SNP	1.000	C
LRRC7	57554	genome.wustl.edu	37	1	70505050	70505050	+	Silent	SNP	C	C	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr1:70505050C>T	ENST00000035383.5	+	19	3459	c.3429C>T	c.(3427-3429)taC>taT	p.Y1143Y	LRRC7_ENST00000310961.5_Silent_p.Y1148Y|LRRC7_ENST00000415775.2_Silent_p.Y427Y	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1143						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGATAGGTACGGCAGACCCC	0.557																																						dbGAP											0													64.0	68.0	67.0					1																	70505050		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3429C>T	1.37:g.70505050C>T			Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Silent	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.Y1143	ENST00000035383.5	37	c.3429	CCDS645.1	1																																																																																			LRRC7	-	NULL	ENSG00000033122		0.557	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	30	0.00	0	C	NM_020794		70505050	70505050	+1	no_errors	ENST00000035383	ensembl	human	known	69_37n	silent	33	17.50	7	SNP	0.988	T
NLGN3	54413	genome.wustl.edu	37	X	70375070	70375070	+	Missense_Mutation	SNP	G	G	A	rs190164205		TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chrX:70375070G>A	ENST00000358741.3	+	5	887	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	NLGN3_ENST00000536169.1_Missense_Mutation_p.R155Q|NLGN3_ENST00000374051.3_Missense_Mutation_p.R175Q|NLGN3_ENST00000476589.1_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	195					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GCAGACATCCGGGACAGTGGT	0.602													G|||	3	0.000794702	0.0008	0.0	3775	,	,		14504	0.002		0.0	False		,,,				2504	0.0				Esophageal Squamous(103;760 1488 16849 22250 40351)	dbGAP											0													143.0	94.0	110.0					X																	70375070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.584G>A	X.37:g.70375070G>A	ENSP00000351591:p.Arg195Gln		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R195Q	ENST00000358741.3	37	c.584	CCDS55441.1	X	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.90	3.913489	0.72983	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.67171	-0.25;-0.22;-0.25;-0.23	4.46	4.46	0.54185	.	0.000000	0.64402	U	0.000015	T	0.62648	0.2445	L	0.44542	1.39	0.54753	D	0.999989	B;P;P	0.37985	0.087;0.613;0.479	B;B;B	0.39379	0.298;0.15;0.241	T	0.67550	-0.5642	10	0.54805	T	0.06	.	16.4607	0.84044	0.0:0.0:1.0:0.0	.	155;155;175	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	Q	155;58;175;155;195	ENSP00000445298:R155Q;ENSP00000363163:R175Q;ENSP00000379196:R155Q;ENSP00000351591:R195Q	ENSP00000351591:R195Q	R	+	2	0	NLGN3	70291795	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.802000	0.85969	2.054000	0.61138	0.544000	0.68410	CGG	NLGN3	-	pfam_CarbesteraseB	ENSG00000196338		0.602	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	48	0.00	0	G	NM_018977		70375070	70375070	+1	no_errors	ENST00000358741	ensembl	human	known	69_37n	missense	60	23.08	18	SNP	1.000	A
NOS2	4843	genome.wustl.edu	37	17	26087691	26087691	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr17:26087691G>T	ENST00000313735.6	-	24	3201	c.2968C>A	c.(2968-2970)Cgc>Agc	p.R990S		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	990					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CAGAAACTGCGGAAGGGCGCG	0.652											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													22.0	20.0	20.0					17																	26087691		2169	4219	6388	-	-	-	SO:0001583	missense	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2968C>A	17.37:g.26087691G>T	ENSP00000327251:p.Arg990Ser	784	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.R990S	ENST00000313735.6	37	c.2968	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807649	0.50421	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	D	0.84944	-1.92	4.63	3.61	0.41365	Oxidoreductase FAD/NAD(P)-binding (1);Flavoprotein pyridine nucleotide cytochrome reductase (1);	0.000000	0.64402	D	0.000004	D	0.95040	0.8394	H	0.98818	4.34	0.50039	D	0.999841	D	0.89917	1.0	D	0.97110	1.0	D	0.95668	0.8721	9	.	.	.	.	11.3042	0.49325	0.0:0.0:0.6031:0.3969	.	990	P35228	NOS2_HUMAN	S	990;951	ENSP00000327251:R990S	.	R	-	1	0	NOS2	23111818	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	2.332000	0.43903	2.125000	0.65367	0.455000	0.32223	CGC	NOS2	-	pfam_OxRdtase_FAD/NAD-bd,pirsf_NOS_met,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase	ENSG00000007171		0.652	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	18	0.00	0	G	NM_000625		26087691	26087691	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	missense	81	15.62	15	SNP	1.000	T
TENM1	10178	genome.wustl.edu	37	X	123805670	123805671	+	Missense_Mutation	DNP	CC	CC	TG			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chrX:123805670_123805671CC>TG	ENST00000371130.3	-	6	1093_1094	c.1030_1031GG>CA	c.(1030-1032)GGc>CAc	p.G344H	TENM1_ENST00000422452.2_Missense_Mutation_p.G344H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	344					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G346V(1)									CCAAGTCAGGCCGAACAAATGC	0.465																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)																																								-	-	-	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1030_1031delinsTG	X.37:g.123805670_123805671delinsTG	ENSP00000360171:p.Gly344His		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD	p.G344D|p.G344R	ENST00000371130.3	37	c.1031|c.1030	CCDS14609.1	X																																																																																			ODZ1	-	NULL	ENSG00000009694		0.465	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	HGNC	protein_coding	OTTHUMT00000058985.1	108|109	0.00	0	C	NM_014253		123805670|123805671	123805670|123805671	-1	no_errors	ENST00000422452	ensembl	human	known	69_37n	missense	68|69	47.29|46.92	61	SNP	1.000	T|G
PCDHB7	56129	genome.wustl.edu	37	5	140553707	140553707	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr5:140553707C>A	ENST00000231137.3	+	1	1465	c.1291C>A	c.(1291-1293)Ctg>Atg	p.L431M		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	431	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACACCCAGGCTGAAAACCGA	0.512																																						dbGAP											0													146.0	132.0	137.0					5																	140553707		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1291C>A	5.37:g.140553707C>A	ENSP00000231137:p.Leu431Met		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L431M	ENST00000231137.3	37	c.1291	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	C	15.44	2.835102	0.50951	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.04119	3.7	4.48	4.48	0.54585	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34366	0.0895	H	0.96269	3.795	0.38970	D	0.958737	D	0.89917	1.0	D	0.91635	0.999	T	0.60005	-0.7347	9	0.87932	D	0	.	17.4995	0.87727	0.0:1.0:0.0:0.0	.	431	Q9Y5E2	PCDB7_HUMAN	M	431;214	ENSP00000231137:L431M	ENSP00000231137:L431M	L	+	1	2	PCDHB7	140533891	0.223000	0.23663	0.971000	0.41717	0.495000	0.33615	1.074000	0.30703	2.174000	0.68829	0.557000	0.71058	CTG	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113212		0.512	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	85	0.00	0	C	NM_018940		140553707	140553707	+1	no_errors	ENST00000231137	ensembl	human	known	69_37n	missense	86	23.68	27	SNP	0.992	A
POR	5447	genome.wustl.edu	37	7	75609818	75609819	+	5'UTR	DEL	AG	AG	-	rs368249506	byFrequency	TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr7:75609818_75609819delAG	ENST00000450476.1	+	0	1_2				POR_ENST00000439269.1_5'Flank|POR_ENST00000461988.1_Intron|POR_ENST00000419840.1_Intron|POR_ENST00000394893.1_Intron|POR_ENST00000545601.1_Intron			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TGAGTCACCCAGAGACTGCTAT	0.624														8	0.00159744	0.0	0.0	5008	,	,		17141	0.006		0.0	False		,,,				2504	0.002					dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413	ENST00000450476.1:c.-9AG>-	7.37:g.75609820_75609821delAG			Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Frame_Shift_Del	DEL	pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.D150fs	ENST00000450476.1	37	c.445_446		7																																																																																			POR	-	pfscan_Flavodoxin/NO_synth	ENSG00000127948		0.624	POR-202	KNOWN	basic	protein_coding	POR	HGNC	protein_coding		8	0.00	0	AG	NM_000941		75609818	75609819	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000447222	ensembl	human	putative	69_37n	frame_shift_del	14	54.29	19	DEL	0.002:0.000	-
PPM1H	57460	genome.wustl.edu	37	12	63042362	63042362	+	Silent	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr12:63042362G>A	ENST00000228705.6	-	10	1752	c.1452C>T	c.(1450-1452)gaC>gaT	p.D484D	snoU13_ENST00000459527.1_RNA|PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	484	PP2C-like.						phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		GCCATCCTCTGTCCTTCAGCA	0.502																																						dbGAP											0													66.0	70.0	69.0					12																	63042362		2086	4229	6315	-	-	-	SO:0001819	synonymous_variant	0			AB032983	CCDS44934.1	12q14.1	2012-04-17	2010-03-05	2004-03-26	ENSG00000111110	ENSG00000111110	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	18583	protein-coding gene	gene with protein product	"""neurite extension-related protein phosphatase related to PP2C"""		"""ras homolog gene family, member C like 1"", ""protein phosphatase 1H (PP2C domain containing)"""	ARHCL1			Standard	NM_020700		Approved	KIAA1157, FLJ13253, NERPP-2C	uc001srk.3	Q9ULR3	OTTHUMG00000169990	ENST00000228705.6:c.1452C>T	12.37:g.63042362G>A			B1Q2A9|B2RXG4|Q6PI86	Silent	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.D484	ENST00000228705.6	37	c.1452	CCDS44934.1	12																																																																																			PPM1H	-	superfamily_PP2C-like,smart_PP2C-like	ENSG00000111110		0.502	PPM1H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1H	HGNC	protein_coding	OTTHUMT00000406760.2	73	0.00	0	G	NM_020700		63042362	63042362	-1	no_errors	ENST00000228705	ensembl	human	known	69_37n	silent	137	16.46	27	SNP	1.000	A
PRPF38A	84950	genome.wustl.edu	37	1	52871475	52871475	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr1:52871475A>G	ENST00000257181.9	+	2	440	c.254A>G	c.(253-255)gAt>gGt	p.D85G	PRPF38A_ENST00000474048.1_Intron|ORC1_ENST00000371568.3_5'Flank|ORC1_ENST00000371566.1_5'Flank	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	85					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						CCCGAGAAGGATATCATTGTA	0.378																																						dbGAP											0													85.0	85.0	85.0					1																	52871475		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.254A>G	1.37:g.52871475A>G	ENSP00000257181:p.Asp85Gly		Q96JW1|Q9BVZ8	Missense_Mutation	SNP	pfam_PRP38	p.D85G	ENST00000257181.9	37	c.254	CCDS567.1	1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.116312	0.77323	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.72	5.72	0.89469	.	0.093231	0.64402	D	0.000001	T	0.68063	0.2960	M	0.86028	2.79	0.80722	D	1	B	0.32324	0.364	B	0.31751	0.135	T	0.71115	-0.4686	9	0.54805	T	0.06	-21.3016	15.9967	0.80256	1.0:0.0:0.0:0.0	.	85	Q8NAV1	PR38A_HUMAN	G	85	.	ENSP00000257181:D85G	D	+	2	0	PRPF38A	52644063	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.260000	0.95568	2.181000	0.69327	0.477000	0.44152	GAT	PRPF38A	-	pfam_PRP38	ENSG00000134748		0.378	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	160	0.00	0	A	NM_032864		52871475	52871475	+1	no_errors	ENST00000257181	ensembl	human	known	69_37n	missense	99	13.16	15	SNP	1.000	G
RNF133	168433	genome.wustl.edu	37	7	122338886	122338889	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	CTGA	CTGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr7:122338886_122338889delCTGA	ENST00000340112.2	-	1	321_324	c.84_87delTCAG	c.(82-87)agtcagfs	p.SQ28fs	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	28					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TGCAACAGTTCTGACTAACAAGCC	0.436																																					Colon(198;1778 2057 7449 19869 45985)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.84_87delTCAG	7.37:g.122338886_122338889delCTGA	ENSP00000344489:p.Ser28fs		A4D0W2|Q8N7G7	Frame_Shift_Del	DEL	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S28fs	ENST00000340112.2	37	c.87_84	CCDS5784.1	7																																																																																			RNF133	-	NULL	ENSG00000188050		0.436	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF133	HGNC	protein_coding	OTTHUMT00000347413.1	25	0.00	0	CTGA	NM_139175		122338886	122338889	-1	no_errors	ENST00000340112	ensembl	human	known	69_37n	frame_shift_del	26	10.34	3	DEL	0.512:0.531:0.719:0.713	-
RNF144A	9781	genome.wustl.edu	37	2	7164587	7164587	+	Silent	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr2:7164587G>A	ENST00000320892.6	+	7	1039	c.597G>A	c.(595-597)gcG>gcA	p.A199A	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	199					protein ubiquitination (GO:0016567)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AAGGCTGCGCGCAGATGATGT	0.547																																						dbGAP											0													110.0	93.0	99.0					2																	7164587		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D79983	CCDS1657.1	2p25.2	2008-02-05	2007-08-20	2007-08-20	ENSG00000151692	ENSG00000151692		"""RING-type (C3HC4) zinc fingers"""	20457	protein-coding gene	gene with protein product			"""ring finger protein 144"""	RNF144		8724849, 10431818	Standard	NM_014746		Approved	UBCE7IP4, KIAA0161	uc002qys.3	P50876	OTTHUMG00000090353	ENST00000320892.6:c.597G>A	2.37:g.7164587G>A			D6W4Y6|Q585H5	Missense_Mutation	SNP	pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING	p.R195H	ENST00000320892.6	37	c.584	CCDS1657.1	2	.	.	.	.	.	.	.	.	.	.	G	0.361	-0.939308	0.02322	.	.	ENSG00000151692	ENST00000432850	.	.	.	5.87	-11.7	0.00046	.	.	.	.	.	T	0.45637	0.1352	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.71391	-0.4607	4	.	.	.	.	8.6508	0.34033	0.0654:0.4311:0.3598:0.1437	.	.	.	.	H	195	.	.	R	+	2	0	RNF144A	7082038	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-2.686000	0.00834	-6.076000	0.00006	-3.021000	0.00074	CGC	RNF144A	-	pfam_Znf_C6HC,smart_Znf_C6HC	ENSG00000151692		0.547	RNF144A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF144A	HGNC	protein_coding	OTTHUMT00000206725.2	21	0.00	0	G	NM_014746		7164587	7164587	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000432850	ensembl	human	putative	69_37n	missense	27	39.13	18	SNP	0.001	A
ROBO1	6091	genome.wustl.edu	37	3	78666899	78666899	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:78666899C>G	ENST00000464233.1	-	27	4281	c.4168G>C	c.(4168-4170)Gtt>Ctt	p.V1390L	ROBO1_ENST00000467549.1_Missense_Mutation_p.V1290L|ROBO1_ENST00000495273.1_Missense_Mutation_p.V1345L|ROBO1_ENST00000436010.2_Missense_Mutation_p.V1351L	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1390					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAAGAACTAACACTGGAGCGT	0.572																																						dbGAP											0													55.0	61.0	59.0					3																	78666899		1970	4134	6104	-	-	-	SO:0001583	missense	0			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4168G>C	3.37:g.78666899C>G	ENSP00000420321:p.Val1390Leu		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V1390L	ENST00000464233.1	37	c.4168	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	C	19.68	3.871956	0.72180	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.66099	-0.03;-0.06;-0.03;-0.19	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.66479	0.2793	N	0.14661	0.345	0.80722	D	1	D;B;P;B;B	0.61697	0.99;0.003;0.622;0.041;0.425	D;B;B;B;B	0.73380	0.98;0.001;0.112;0.057;0.089	T	0.64487	-0.6396	9	.	.	.	.	20.1554	0.98111	0.0:1.0:0.0:0.0	.	1354;1390;1345;1290;1351	Q9Y6N7-3;Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	.;ROBO1_HUMAN;.;.;.	L	1351;1345;1390;1345;1290;1394	ENSP00000406043:V1351L;ENSP00000420321:V1390L;ENSP00000420637:V1345L;ENSP00000417992:V1290L	.	V	-	1	0	ROBO1	78749589	1.000000	0.71417	0.616000	0.29078	0.086000	0.17979	7.445000	0.80570	2.838000	0.97847	0.591000	0.81541	GTT	ROBO1	-	NULL	ENSG00000169855		0.572	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	HGNC	protein_coding	OTTHUMT00000352610.1	45	0.00	0	C	NM_002941		78666899	78666899	-1	no_errors	ENST00000464233	ensembl	human	known	69_37n	missense	80	16.67	16	SNP	1.000	G
SKIL	6498	genome.wustl.edu	37	3	170078980	170078980	+	Silent	SNP	G	G	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:170078980G>T	ENST00000458537.3	+	1	1570	c.861G>T	c.(859-861)ccG>ccT	p.P287P	SKIL_ENST00000413427.2_Silent_p.P287P|SKIL_ENST00000259119.4_Silent_p.P287P|SKIL_ENST00000426052.2_Silent_p.P267P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	287					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.P287P(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTGATGCTCCGTGTATTCAAT	0.463																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											157.0	142.0	147.0					3																	170078980		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.861G>T	3.37:g.170078980G>T			A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	pfam_c-SKI_SMAD4-bd_dom,pfam_Transform_Ski,superfamily_SAND_dom-like,superfamily_DNA-bd_dom_put	p.P287	ENST00000458537.3	37	c.861	CCDS33890.1	3																																																																																			SKIL	-	pfam_c-SKI_SMAD4-bd_dom,superfamily_SAND_dom-like	ENSG00000136603		0.463	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIL	HGNC	protein_coding	OTTHUMT00000352351.4	124	0.00	0	G	NM_005414		170078980	170078980	+1	no_errors	ENST00000259119	ensembl	human	known	69_37n	silent	164	18.00	36	SNP	0.002	T
SKOR1	390598	genome.wustl.edu	37	15	68118406	68118406	+	Silent	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr15:68118406G>A	ENST00000380035.2	+	2	298	c.240G>A	c.(238-240)acG>acA	p.T80T	SKOR1_ENST00000554240.1_Silent_p.T41T|SKOR1_ENST00000554054.1_Silent_p.T52T|SKOR1_ENST00000389002.1_Silent_p.T71T|SKOR1_ENST00000341418.5_Silent_p.T266T			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	80					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						TGGGCGAGACGTCGCTGTACG	0.642																																						dbGAP											0													53.0	50.0	51.0					15																	68118406		2200	4298	6498	-	-	-	SO:0001819	synonymous_variant	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.240G>A	15.37:g.68118406G>A			A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.T80	ENST00000380035.2	37	c.240		15																																																																																			SKOR1	-	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	ENSG00000188779		0.642	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	18	0.00	0	G	NM_001031807		68118406	68118406	+1	no_errors	ENST00000380035	ensembl	human	known	69_37n	silent	34	19.05	8	SNP	0.991	A
SMC4	10051	genome.wustl.edu	37	3	160146661	160146661	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:160146661T>G	ENST00000357388.3	+	18	3177	c.2726T>G	c.(2725-2727)aTa>aGa	p.I909R	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.I909R|SMC4_ENST00000462787.1_Missense_Mutation_p.I909R|SMC4_ENST00000469762.1_Missense_Mutation_p.I884R|SMC4_ENST00000344722.5_Missense_Mutation_p.I909R	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	909					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTGATAAAATAAATAAGCAA	0.358																																						dbGAP											0													119.0	113.0	115.0					3																	160146661		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.2726T>G	3.37:g.160146661T>G	ENSP00000349961:p.Ile909Arg		A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.I909R	ENST00000357388.3	37	c.2726	CCDS3189.1	3	.	.	.	.	.	.	.	.	.	.	T	27.0	4.790606	0.90367	.	.	ENSG00000113810	ENST00000357388;ENST00000360111;ENST00000469762;ENST00000462787;ENST00000344722;ENST00000545277	T;T;T;T;T	0.79749	-1.3;-1.3;-0.92;-1.3;-1.3	6.07	6.07	0.98685	RecF/RecN/SMC (1);	0.122892	0.64402	D	0.000001	D	0.90410	0.6998	M	0.86420	2.815	0.80722	D	1	D;P;P;D	0.60575	0.973;0.907;0.949;0.988	P;P;P;D	0.63703	0.864;0.905;0.745;0.917	D	0.91778	0.5433	10	0.72032	D	0.01	-23.0239	16.6407	0.85098	0.0:0.0:0.0:1.0	.	909;884;884;909	Q9NTJ3-2;B3KXX5;E9PD53;Q9NTJ3	.;.;.;SMC4_HUMAN	R	909;909;884;909;909;503	ENSP00000349961:I909R;ENSP00000353225:I909R;ENSP00000417964:I884R;ENSP00000420734:I909R;ENSP00000341382:I909R	ENSP00000341382:I909R	I	+	2	0	SMC4	161629355	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.873000	0.87193	2.326000	0.78906	0.533000	0.62120	ATA	SMC4	-	pfam_RecF/RecN/SMC,superfamily_Prefoldin	ENSG00000113810		0.358	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	171	0.00	0	T			160146661	160146661	+1	no_errors	ENST00000344722	ensembl	human	known	69_37n	missense	105	17.32	22	SNP	1.000	G
SMG1	23049	genome.wustl.edu	37	16	18830918	18830918	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr16:18830918G>T	ENST00000446231.2	-	56	10212	c.9800C>A	c.(9799-9801)gCc>gAc	p.A3267D	SMG1_ENST00000389467.3_Missense_Mutation_p.A3268D			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3267					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TGCAGGGTTGGCACCACCTGC	0.443																																						dbGAP											0													61.0	58.0	59.0					16																	18830918		1903	4121	6024	-	-	-	SO:0001583	missense	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9800C>A	16.37:g.18830918G>T	ENSP00000402515:p.Ala3267Asp		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A3268D	ENST00000446231.2	37	c.9803	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887828	0.91814	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	T;T	0.02656	4.21;4.21	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000002	T	0.11024	0.0269	L	0.34521	1.04	0.58432	D	0.999998	D	0.71674	0.998	D	0.80764	0.994	T	0.01266	-1.1401	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	3267	Q96Q15	SMG1_HUMAN	D	3267;3268	ENSP00000402515:A3267D;ENSP00000374118:A3268D	ENSP00000374118:A3268D	A	-	2	0	SMG1	18738419	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.827000	0.99397	2.937000	0.99478	0.650000	0.86243	GCC	SMG1	-	NULL	ENSG00000157106		0.443	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	69	0.00	0	G	NM_015092		18830918	18830918	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	missense	141	17.06	29	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578272	7578272	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr17:7578272G>A	ENST00000269305.4	-	6	766	c.577C>T	c.(577-579)Cat>Tat	p.H193Y	TP53_ENST00000455263.2_Missense_Mutation_p.H193Y|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193Y|TP53_ENST00000420246.2_Missense_Mutation_p.H193Y|TP53_ENST00000413465.2_Missense_Mutation_p.H193Y|TP53_ENST00000445888.2_Missense_Mutation_p.H193Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193Y(29)|p.H193D(13)|p.0?(8)|p.?(6)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.H61D(2)|p.H100D(2)|p.P191fs*15(1)|p.H61Y(1)|p.P191fs*6(1)|p.H100Y(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGATAAGATGCTGAGGAGGG	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	85	Substitution - Missense(52)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	breast(14)|lung(12)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(7)|ovary(6)|upper_aerodigestive_tract(5)|liver(5)|oesophagus(5)|central_nervous_system(4)|skin(4)|bone(4)|large_intestine(3)|stomach(2)|urinary_tract(2)|pancreas(2)|adrenal_gland(1)|soft_tissue(1)											95.0	85.0	88.0					17																	7578272		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.577C>T	17.37:g.7578272G>A	ENSP00000269305:p.His193Tyr		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.H193Y	ENST00000269305.4	37	c.577	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.43	3.387715	0.61956	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99873	0.9940	M	0.88906	2.99	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-29.0766	17.0767	0.86588	0.0:0.0:1.0:0.0	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193Y;ENSP00000352610:H193Y;ENSP00000269305:H193Y;ENSP00000398846:H193Y;ENSP00000391127:H193Y;ENSP00000391478:H193Y;ENSP00000425104:H61Y;ENSP00000423862:H100Y	ENSP00000269305:H193Y	H	-	1	0	TP53	7518997	1.000000	0.71417	0.971000	0.41717	0.032000	0.12392	9.813000	0.99286	2.702000	0.92279	0.655000	0.94253	CAT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	110	0.00	0	G	NM_000546		7578272	7578272	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	69	64.06	123	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179477701	179477701	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr2:179477701T>C	ENST00000591111.1	-	215	45048	c.44824A>G	c.(44824-44826)Att>Gtt	p.I14942V	TTN_ENST00000359218.5_Missense_Mutation_p.I7643V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I7518V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I7710V|TTN_ENST00000589042.1_Missense_Mutation_p.I16583V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I14015V|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14942	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			TAAGACTCAATCTTTGCACCT	0.478																																						dbGAP											0													94.0	92.0	93.0					2																	179477701		1983	4172	6155	-	-	-	SO:0001583	missense	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.44824A>G	2.37:g.179477701T>C	ENSP00000465570:p.Ile14942Val		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	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,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,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.I14015V	ENST00000591111.1	37	c.42043		2	.	.	.	.	.	.	.	.	.	.	T	6.024	0.372757	0.11409	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.6	3.26	0.37387	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45637	0.1352	L	0.33668	1.02	0.41915	D	0.990486	B;B;B;B	0.09022	0.002;0.002;0.002;0.002	B;B;B;B	0.17098	0.017;0.017;0.017;0.017	T	0.36625	-0.9740	9	0.87932	D	0	.	9.5215	0.39138	0.0:0.1418:0.0:0.8582	.	7518;7643;7710;14942	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	14015;7518;7710;7643;7518	ENSP00000343764:I14015V;ENSP00000434586:I7518V;ENSP00000340554:I7710V;ENSP00000352154:I7643V	ENSP00000340554:I7710V	I	-	1	0	TTN	179185946	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	5.129000	0.64739	0.433000	0.26313	-0.385000	0.06624	ATT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	121	0.00	0	T	NM_133378		179477701	179477701	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	159	14.52	27	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179611635	179611635	+	Intron	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr2:179611635G>A	ENST00000591111.1	-	46	10585				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Silent_p.S5164S|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA			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)			CAAATGAATCGGAACGCCATA	0.393																																						dbGAP											0													119.0	117.0	118.0					2																	179611635		2203	4299	6502	-	-	-	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.10361-4987C>T	2.37:g.179611635G>A			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	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S5164	ENST00000591111.1	37	c.15492		2																																																																																			TTN	-	NULL	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	139	0.00	0	G	NM_133378		179611635	179611635	-1	no_errors	ENST00000360870	ensembl	human	known	69_37n	silent	104	24.09	33	SNP	0.000	A
UBR4	23352	genome.wustl.edu	37	1	19481474	19481474	+	Silent	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr1:19481474G>A	ENST00000375254.3	-	44	6423	c.6396C>T	c.(6394-6396)ttC>ttT	p.F2132F	UBR4_ENST00000375217.2_Silent_p.F2132F|UBR4_ENST00000375226.2_Silent_p.F2132F|UBR4_ENST00000375267.2_Silent_p.F2132F	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2132					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGGTGGCTGCGAATGATTTGC	0.502																																						dbGAP											0													204.0	172.0	183.0					1																	19481474		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6396C>T	1.37:g.19481474G>A			A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.F2132	ENST00000375254.3	37	c.6396	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold	ENSG00000127481		0.502	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	73	0.00	0	G	NM_020765		19481474	19481474	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	silent	151	10.65	18	SNP	0.998	A
WDR49	151790	genome.wustl.edu	37	3	167223187	167223187	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr3:167223187T>C	ENST00000308378.3	-	13	2041	c.1736A>G	c.(1735-1737)gAt>gGt	p.D579G	WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D404G|WDR49_ENST00000453925.2_Missense_Mutation_p.D544G	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	579										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TAAATTTATATCTTCTGATGG	0.303																																						dbGAP											0													29.0	33.0	31.0					3																	167223187		2175	4259	6434	-	-	-	SO:0001583	missense	0			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1736A>G	3.37:g.167223187T>C	ENSP00000311343:p.Asp579Gly		Q8N297	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.D579G	ENST00000308378.3	37	c.1736	CCDS3201.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.927|4.927	0.172299|0.172299	0.09391|0.09391	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925|ENST00000472600	T;T;T|.	0.53423|.	0.62;1.91;0.96|.	5.0|5.0	3.82|3.82	0.43975|0.43975	.|.	0.388152|.	0.25732|.	N|.	0.028672|.	T|T	0.31918|0.31918	0.0812|0.0812	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.26672|.	0.148;0.156|.	B;B|.	0.19946|.	0.027;0.026|.	T|T	0.18745|0.18745	-1.0327|-1.0327	10|5	0.62326|.	D|.	0.03|.	.|.	7.2096|7.2096	0.25927|0.25927	0.2626:0.0:0.0:0.7374|0.2626:0.0:0.0:0.7374	.|.	544;579|.	E7EQK3;Q8IV35|.	.;WDR49_HUMAN|.	G|V	579;404;544|556	ENSP00000311343:D579G;ENSP00000420508:D404G;ENSP00000410863:D544G|.	ENSP00000311343:D579G|.	D|I	-|-	2|1	0|0	WDR49|WDR49	168705881|168705881	0.898000|0.898000	0.30612|0.30612	0.256000|0.256000	0.24389|0.24389	0.694000|0.694000	0.40290|0.40290	1.550000|1.550000	0.36223|0.36223	0.824000|0.824000	0.34613|0.34613	0.533000|0.533000	0.62120|0.62120	GAT|ATA	WDR49	-	NULL	ENSG00000174776		0.303	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	HGNC	protein_coding	OTTHUMT00000350592.3	220	0.00	0	T	NM_178824		167223187	167223187	-1	no_errors	ENST00000308378	ensembl	human	known	69_37n	missense	39	25.00	13	SNP	0.282	C
WDR78	79819	genome.wustl.edu	37	1	67299695	67299695	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr1:67299695G>A	ENST00000371026.3	-	12	1925	c.1870C>T	c.(1870-1872)Cga>Tga	p.R624*	WDR78_ENST00000431318.1_Nonsense_Mutation_p.R370*	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	624					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGTCCTTTTCGTATAACCCAT	0.338																																						dbGAP											0													95.0	91.0	92.0					1																	67299695		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			BX648840	CCDS635.1, CCDS44157.1	1p31.2	2014-02-21	2013-02-19	2013-02-19	ENSG00000152763	ENSG00000152763		"""WD repeat domain containing"""	26252	protein-coding gene	gene with protein product						21953912	Standard	NM_207014		Approved	DIC4, FLJ23129	uc001dcx.3	Q5VTH9	OTTHUMG00000009165	ENST00000371026.3:c.1870C>T	1.37:g.67299695G>A	ENSP00000360065:p.Arg624*		A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R624*	ENST00000371026.3	37	c.1870	CCDS635.1	1	.	.	.	.	.	.	.	.	.	.	G	44	11.217958	0.99532	.	.	ENSG00000152763	ENST00000371026;ENST00000431318;ENST00000464352	.	.	.	5.57	5.57	0.84162	.	0.312381	0.34580	N	0.003855	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5977	14.0292	0.64604	0.0:0.0:0.8488:0.1512	.	.	.	.	X	624;370;390	.	ENSP00000360065:R624X	R	-	1	2	WDR78	67072283	0.900000	0.30661	0.992000	0.48379	0.718000	0.41266	1.711000	0.37930	2.634000	0.89283	0.655000	0.94253	CGA	WDR78	-	superfamily_WD40_repeat_dom	ENSG00000152763		0.338	WDR78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR78	HGNC	protein_coding	OTTHUMT00000025404.1	228	0.00	0	G	NM_024763		67299695	67299695	-1	no_errors	ENST00000371026	ensembl	human	known	69_37n	nonsense	115	36.61	67	SNP	0.719	A
ZER1	10444	genome.wustl.edu	37	9	131513756	131513756	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A12W-01A-11D-A10Y-09	TCGA-C8-A12W-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	5fb924d9-3201-491b-90b1-fe8a6320b2d7	75395500-05e2-4acf-a25b-bd7743b389bc	g.chr9:131513756G>A	ENST00000291900.2	-	6	1380	c.974C>T	c.(973-975)cCg>cTg	p.P325L	ZER1_ENST00000494461.1_5'Flank|snoU13_ENST00000459043.1_RNA	NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	325					protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein transferase activity (GO:0051438)	Cul2-RING ubiquitin ligase complex (GO:0031462)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GAACTGCAGCGGCCTCTTCAG	0.597																																						dbGAP											0													85.0	93.0	90.0					9																	131513756		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99802	CCDS6910.1	9q33.3	2013-01-17	2012-12-10	2007-01-04	ENSG00000160445	ENSG00000160445		"""ZYG11 cell cycle regulator family"""	30960	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 60"", ""zyg-11 homolog B (C. elegans)-like"", ""zer-1 homolog (C. elegans)"""	C9orf60, ZYG11BL		11719588	Standard	NM_006336		Approved	ZYG, Hzyg	uc004bwa.2	Q7Z7L7	OTTHUMG00000020759	ENST00000291900.2:c.974C>T	9.37:g.131513756G>A	ENSP00000291900:p.Pro325Leu		O00156|Q5T272|Q5T273	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.P325L	ENST00000291900.2	37	c.974	CCDS6910.1	9	.	.	.	.	.	.	.	.	.	.	G	26.6	4.749393	0.89753	.	.	ENSG00000160445	ENST00000291900	T	0.49432	0.78	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.58810	1.83	0.80722	D	1	D	0.62365	0.991	B	0.43889	0.435	T	0.55477	-0.8135	10	0.52906	T	0.07	-19.8909	18.1354	0.89617	0.0:0.0:1.0:0.0	.	325	Q7Z7L7	ZER1_HUMAN	L	325	ENSP00000291900:P325L	ENSP00000291900:P325L	P	-	2	0	ZER1	130553577	1.000000	0.71417	0.961000	0.40146	0.977000	0.68977	8.841000	0.92131	2.548000	0.85928	0.313000	0.20887	CCG	ZER1	-	NULL	ENSG00000160445		0.597	ZER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZER1	HGNC	protein_coding	OTTHUMT00000054491.1	55	0.00	0	G	NM_006336		131513756	131513756	-1	no_errors	ENST00000291900	ensembl	human	known	69_37n	missense	111	16.54	22	SNP	0.999	A
