#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMDEC1	27299	genome.wustl.edu	37	8	24259485	24259485	+	Silent	SNP	T	T	G			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr8:24259485T>G	ENST00000256412.4	+	12	1420	c.1200T>G	c.(1198-1200)ctT>ctG	p.L400L	ADAMDEC1_ENST00000522298.1_Silent_p.L321L|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_Silent_p.L321L|RP11-624C23.1_ENST00000523578.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	400	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AAAGATACCTTTTATCTCAGA	0.388																																					Ovarian(147;687 1849 3699 25981 31337)	dbGAP											0													107.0	107.0	107.0					8																	24259485		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.1200T>G	8.37:g.24259485T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZAK5	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.L400	ENST00000256412.4	37	c.1200	CCDS6044.1	8																																																																																			ADAMDEC1	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134028		0.388	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMDEC1	HGNC	protein_coding	OTTHUMT00000215149.2	76	0.00	0	T	NM_014479		24259485	24259485	+1	no_errors	ENST00000256412	ensembl	human	known	69_37n	silent	69	31.68	32	SNP	0.045	G
CIRBP	1153	genome.wustl.edu	37	19	1272041	1272041	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr19:1272041G>A	ENST00000588030.1	+	6	753	c.493G>A	c.(493-495)Gac>Aac	p.D165N	CIRBP_ENST00000589660.1_Missense_Mutation_p.D165N|CIRBP_ENST00000588230.1_Missense_Mutation_p.D165N|CIRBP_ENST00000591935.1_Missense_Mutation_p.D165N|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000589710.1_Missense_Mutation_p.D165N|CIRBP_ENST00000444172.2_Missense_Mutation_p.D112N|CIRBP_ENST00000413636.2_Missense_Mutation_p.D131N|CIRBP_ENST00000589686.1_Missense_Mutation_p.D165N|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000320936.5_Missense_Mutation_p.D165N|C19orf24_ENST00000409293.4_5'Flank|CIRBP_ENST00000585630.1_Missense_Mutation_p.D165N|CIRBP_ENST00000588090.1_Missense_Mutation_p.D165N|CIRBP_ENST00000586472.1_Missense_Mutation_p.D165N|CIRBP_ENST00000589235.1_Missense_Mutation_p.D165N|CIRBP_ENST00000586773.1_Missense_Mutation_p.D165N|CIRBP_ENST00000587896.1_Missense_Mutation_p.D165N|CIRBP_ENST00000587323.1_Missense_Mutation_p.D165N			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	165					mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACAGTTATGACAGTTACGG	0.602																																						dbGAP											0													126.0	106.0	113.0					19																	1272041		2203	4300	6503	-	-	-	SO:0001583	missense	0			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.493G>A	19.37:g.1272041G>A	ENSP00000468788:p.Asp165Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT17|B4E2X2	Missense_Mutation	SNP	NULL	p.D112N	ENST00000588030.1	37	c.334	CCDS12059.1	19	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222205	0.58560	.	.	ENSG00000099622	ENST00000320936;ENST00000413636;ENST00000444172	T;T	0.70282	0.16;-0.47	4.78	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.74442	0.3717	M	0.65975	2.015	0.58432	D	0.999999	P;P;B	0.47841	0.901;0.901;0.144	P;P;B	0.50136	0.504;0.632;0.044	T	0.76724	-0.2854	10	0.72032	D	0.01	-20.8508	11.686	0.51485	0.0887:0.0:0.9113:0.0	.	131;165;165	B4E2X2;D6W5Y5;Q14011	.;.;CIRBP_HUMAN	N	165;131;112	ENSP00000322887:D165N;ENSP00000412831:D131N	ENSP00000322887:D165N	D	+	1	0	CIRBP	1223041	1.000000	0.71417	0.941000	0.38009	0.216000	0.24613	8.661000	0.91125	1.008000	0.39264	0.313000	0.20887	GAC	CIRBP	-	NULL	ENSG00000099622		0.602	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	HGNC	protein_coding	OTTHUMT00000449969.1	25	0.00	0	G	NM_001280		1272041	1272041	+1	no_errors	ENST00000444172	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.999	A
CTCF	10664	genome.wustl.edu	37	16	67645922	67645922	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr16:67645922C>T	ENST00000264010.4	+	4	1294	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	AC009095.4_ENST00000388909.4_RNA|CTCF_ENST00000401394.1_Intron	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	284					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|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 negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.H284N(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TTTGGATCGTCACATGAAAAG	0.463																																					Colon(175;1200 1966 6945 23069 27405)	dbGAP											1	Substitution - Missense(1)	breast(1)											151.0	123.0	132.0					16																	67645922		2198	4300	6498	-	-	-	SO:0001583	missense	0			U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.850C>T	16.37:g.67645922C>T	ENSP00000264010:p.His284Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H284Y	ENST00000264010.4	37	c.850	CCDS10841.1	16	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422105	0.83559	.	.	ENSG00000102974	ENST00000264010	D	0.86769	-2.17	5.08	5.08	0.68730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000002	D	0.95953	0.8682	H	0.97103	3.94	0.80722	D	1	D	0.62365	0.991	D	0.74023	0.982	D	0.97243	0.9892	10	0.87932	D	0	.	18.6694	0.91506	0.0:1.0:0.0:0.0	.	284	P49711	CTCF_HUMAN	Y	284	ENSP00000264010:H284Y	ENSP00000264010:H284Y	H	+	1	0	CTCF	66203423	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.651000	0.83577	2.641000	0.89580	0.655000	0.94253	CAC	CTCF	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000102974		0.463	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTCF	HGNC	protein_coding	OTTHUMT00000268870.2	91	0.00	0	C	NM_006565		67645922	67645922	+1	no_errors	ENST00000264010	ensembl	human	known	69_37n	missense	23	68.49	50	SNP	1.000	T
CUX1	1523	genome.wustl.edu	37	7	101840509	101840509	+	Silent	SNP	A	A	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr7:101840509A>T	ENST00000292535.7	+	15	1856	c.1818A>T	c.(1816-1818)ccA>ccT	p.P606P	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Silent_p.P504P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.P606P|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000360264.3_Silent_p.P617P|CUX1_ENST00000549414.2_Silent_p.P606P|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Silent_p.P504P	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	606					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCAAGGAGCCATTTCACAAGA	0.537																																						dbGAP											0													78.0	73.0	75.0					7																	101840509		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1818A>T	7.37:g.101840509A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.P617	ENST00000292535.7	37	c.1851	CCDS5721.1	7																																																																																			CUX1	-	pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT	ENSG00000257923		0.537	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	68	0.00	0	A	NM_001913		101840509	101840509	+1	no_errors	ENST00000360264	ensembl	human	known	69_37n	silent	56	36.36	32	SNP	0.007	T
DNAH17	8632	genome.wustl.edu	37	17	76425216	76425217	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr17:76425216_76425217insG	ENST00000585328.1	-	76	12499_12500	c.12375_12376insC	c.(12373-12378)cccaacfs	p.N4126fs	DNAH17_ENST00000389840.5_Frame_Shift_Ins_p.N4125fs|DNAH17_ENST00000586052.1_5'UTR	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	4125					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TAGTCCAGGTTGGGGGGGATCT	0.579																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.12376dupC	17.37:g.76425223_76425223dupG	ENSP00000465516:p.Asn4126fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Frame_Shift_Ins	INS	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd	p.N4124fs	ENST00000585328.1	37	c.12373_12372		17																																																																																			DNAH17	-	pfam_Dynein_heavy	ENSG00000187775		0.579	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	26	0.00	0	-	NM_173628		76425216	76425217	-1	no_errors	ENST00000389840	ensembl	human	known	69_37n	frame_shift_ins	25	10.71	3	INS	1.000:0.993	G
GRIN2C	2905	genome.wustl.edu	37	17	72840611	72840611	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr17:72840611C>T	ENST00000293190.5	-	12	2533	c.2387G>A	c.(2386-2388)gGg>gAg	p.G796E	GRIN2C_ENST00000347612.4_Missense_Mutation_p.G796E	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	796					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTGGCAGATCCCTGAGAGCCA	0.562																																						dbGAP											0													121.0	107.0	112.0					17																	72840611		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.2387G>A	17.37:g.72840611C>T	ENSP00000293190:p.Gly796Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,pfam_NMDAR2_C,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G796E	ENST00000293190.5	37	c.2387	CCDS32724.1	17	.	.	.	.	.	.	.	.	.	.	C	13.01	2.109333	0.37242	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.52057	0.68	4.79	3.82	0.43975	Ionotropic glutamate receptor (2);	0.059972	0.64402	N	0.000003	T	0.65396	0.2687	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69124	-0.5228	10	0.87932	D	0	.	13.116	0.59299	0.0:0.9203:0.0:0.0797	.	830;796	Q8IW23;Q14957	.;NMDE3_HUMAN	E	796;830	ENSP00000293190:G796E	ENSP00000293190:G796E	G	-	2	0	GRIN2C	70352206	1.000000	0.71417	0.985000	0.45067	0.851000	0.48451	7.766000	0.85320	1.136000	0.42199	-0.291000	0.09656	GGG	GRIN2C	-	pfam_Iontro_glu_rcpt,smart_Iontro_glu_rcpt	ENSG00000161509		0.562	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2C	HGNC	protein_coding	OTTHUMT00000103824.1	46	0.00	0	C			72840611	72840611	-1	no_errors	ENST00000293190	ensembl	human	known	69_37n	missense	29	30.95	13	SNP	1.000	T
PHYKPL	85007	genome.wustl.edu	37	5	177634110	177634110	+	IGR	SNP	T	T	C			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr5:177634110T>C	ENST00000308158.5	-	0	2038				HNRNPAB_ENST00000506339.1_Silent_p.L185L|HNRNPAB_ENST00000506259.1_Silent_p.L185L|HNRNPAB_ENST00000515193.1_Silent_p.L185L|PHYKPL_ENST00000481811.1_5'Flank|HNRNPAB_ENST00000514633.1_Silent_p.L185L|HNRNPAB_ENST00000504898.1_Silent_p.L185L|HNRNPAB_ENST00000358344.3_Silent_p.L185L|HNRNPAB_ENST00000355836.5_Silent_p.L185L	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	GGCCATTGAATTGCCAATGGA	0.438																																						dbGAP											0													133.0	127.0	129.0					5																	177634110		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892		5.37:g.177634110T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	pfam_RRM_dom,pfam_CARG-binding_factor_N,smart_RRM_dom,pfscan_RRM_dom	p.L185	ENST00000308158.5	37	c.553	CCDS4434.1	5																																																																																			HNRNPAB	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000197451		0.438	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPAB	HGNC	protein_coding	OTTHUMT00000253477.1	145	0.00	0	T	NM_032921		177634110	177634110	+1	no_errors	ENST00000358344	ensembl	human	known	69_37n	silent	74	44.36	59	SNP	1.000	C
IFT52	51098	genome.wustl.edu	37	20	42271262	42271262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr20:42271262C>T	ENST00000373030.3	+	13	1394	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	IFT52_ENST00000471199.1_3'UTR|IFT52_ENST00000373039.4_Nonsense_Mutation_p.Q422*	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	422					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAAATTGAACCAGGTACAGAG	0.468																																						dbGAP											0													103.0	88.0	93.0					20																	42271262		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1264C>T	20.37:g.42271262C>T	ENSP00000362121:p.Gln422*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Nonsense_Mutation	SNP	pfam_ABC_transp_unknown	p.Q422*	ENST00000373030.3	37	c.1264	CCDS33470.1	20	.	.	.	.	.	.	.	.	.	.	C	39	7.374089	0.98245	.	.	ENSG00000101052	ENST00000373030;ENST00000373039	.	.	.	4.86	4.86	0.63082	.	0.052764	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-16.0694	17.1379	0.86744	0.0:1.0:0.0:0.0	.	.	.	.	X	422	.	ENSP00000362121:Q422X	Q	+	1	0	IFT52	41704676	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.857000	0.69525	2.416000	0.81992	0.555000	0.69702	CAG	IFT52	-	NULL	ENSG00000101052		0.468	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT52	HGNC	protein_coding	OTTHUMT00000079317.1	35	0.00	0	C	NM_016004		42271262	42271262	+1	no_errors	ENST00000373030	ensembl	human	known	69_37n	nonsense	31	29.55	13	SNP	1.000	T
IL17RC	84818	genome.wustl.edu	37	3	9959098	9959098	+	Silent	SNP	C	C	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr3:9959098C>T	ENST00000295981.3	+	1	317	c.99C>T	c.(97-99)tgC>tgT	p.C33C	RNU6-882P_ENST00000391025.1_RNA|IL17RC_ENST00000413608.1_Silent_p.C33C|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000383812.4_Silent_p.C33C|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000403601.3_Silent_p.C33C|IL17RC_ENST00000455057.1_Silent_p.C33C	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	33					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-17 receptor activity (GO:0030368)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTACCCACTGCTCTCCGGTGA	0.602																																						dbGAP											0													52.0	54.0	53.0					3																	9959098		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006411	CCDS2590.1, CCDS2591.2, CCDS46746.1, CCDS56240.1, CCDS56241.1, CCDS74898.1	3p25.3	2008-02-05			ENSG00000163702	ENSG00000163702		"""Interleukins and interleukin receptors"""	18358	protein-coding gene	gene with protein product		610925				11706037	Standard	NM_153460		Approved	IL17-RL	uc003bua.3	Q8NAC3	OTTHUMG00000128648	ENST00000295981.3:c.99C>T	3.37:g.9959098C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PHG1|E9PHJ6|Q6UVY3|Q6UWD4|Q8NFS1|Q9BR97	Silent	SNP	pfam_SEFIR	p.C33	ENST00000295981.3	37	c.99	CCDS2590.1	3																																																																																			IL17RC	-	NULL	ENSG00000163702		0.602	IL17RC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL17RC	HGNC	protein_coding	OTTHUMT00000250526.2	37	0.00	0	C	NM_032732		9959098	9959098	+1	no_errors	ENST00000295981	ensembl	human	known	69_37n	silent	27	24.32	9	SNP	1.000	T
KIF2B	84643	genome.wustl.edu	37	17	51900728	51900728	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr17:51900728G>A	ENST00000268919.4	+	1	490	c.334G>A	c.(334-336)Gcc>Acc	p.A112T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	112			A -> V (in dbSNP:rs3803824). {ECO:0000269|PubMed:14702039, ECO:0000269|Ref.1}.		antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGCGTACCGCCACGAAATG	0.602																																						dbGAP											0													78.0	83.0	81.0					17																	51900728		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.334G>A	17.37:g.51900728G>A	ENSP00000268919:p.Ala112Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96MA2|Q9BXG6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A112T	ENST00000268919.4	37	c.334	CCDS32685.1	17	.	.	.	.	.	.	.	.	.	.	G	1.988	-0.432467	0.04669	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.75154	-0.91	4.99	-0.787	0.10943	.	0.344162	0.20835	N	0.084805	T	0.45736	0.1357	N	0.11927	0.2	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.20273	-1.0280	10	0.12103	T	0.63	.	4.4214	0.11482	0.2273:0.0:0.5024:0.2703	.	112	Q8N4N8	KIF2B_HUMAN	T	112;35	ENSP00000268919:A112T	ENSP00000268919:A112T	A	+	1	0	KIF2B	49255727	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.319000	0.08039	0.091000	0.17302	-0.137000	0.14449	GCC	KIF2B	-	NULL	ENSG00000141200		0.602	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	135	0.00	0	G	NM_032559		51900728	51900728	+1	no_errors	ENST00000268919	ensembl	human	known	69_37n	missense	92	37.16	55	SNP	0.000	A
LRRC55	219527	genome.wustl.edu	37	11	56949488	56949488	+	Silent	SNP	C	C	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr11:56949488C>T	ENST00000497933.1	+	1	268	c.121C>T	c.(121-123)Ctg>Ttg	p.L41L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	11					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CTGTTGCCTGCTGCCTAAGAT	0.617																																						dbGAP											0													58.0	46.0	50.0					11																	56949488		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS31539.1	11q12.1	2008-02-05			ENSG00000183908	ENSG00000183908			32324	protein-coding gene	gene with protein product		615213					Standard	NM_001005210		Approved	FLJ45686	uc001njl.2	Q6ZSA7	OTTHUMG00000159309	ENST00000497933.1:c.121C>T	11.37:g.56949488C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2U7|B2RN81	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L41	ENST00000497933.1	37	c.121	CCDS31539.1	11																																																																																			LRRC55	-	NULL	ENSG00000183908		0.617	LRRC55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC55	HGNC	protein_coding	OTTHUMT00000354503.2	77	0.00	0	C	NM_001005210		56949488	56949488	+1	no_errors	ENST00000497933	ensembl	human	known	69_37n	silent	46	22.03	13	SNP	0.039	T
LTBP2	4053	genome.wustl.edu	37	14	74967606	74967607	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr14:74967606_74967607insG	ENST00000261978.4	-	36	5832_5833	c.5446_5447insC	c.(5446-5448)cacfs	p.H1816fs	LTBP2_ENST00000556690.1_Frame_Shift_Ins_p.H1772fs	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1816	EGF-like 20; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.H1816fs*>7(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCAGTGCAGTGGGGGGGCCCT	0.619																																						dbGAP											2	Insertion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.5447dupC	14.37:g.74967613_74967613dupG	ENSP00000261978:p.His1816fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q99907|Q9NS51	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.H1816fs	ENST00000261978.4	37	c.5447_5446	CCDS9831.1	14																																																																																			LTBP2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000119681		0.619	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	45	0.00	0	-	NM_000428		74967606	74967607	-1	no_errors	ENST00000261978	ensembl	human	known	69_37n	frame_shift_ins	35	12.50	5	INS	0.813:0.817	G
MTM1	4534	genome.wustl.edu	37	X	149809752	149809752	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chrX:149809752A>G	ENST00000370396.2	+	8	593	c.539A>G	c.(538-540)aAt>aGt	p.N180S	MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.N143S|MTM1_ENST00000543350.1_Missense_Mutation_p.N65S|MTM1_ENST00000542741.1_Missense_Mutation_p.N85S	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	180	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.		N -> K (in CNMX; very mild). {ECO:0000269|PubMed:12522554}.		endosome to lysosome transport (GO:0008333)|intermediate filament organization (GO:0045109)|mitochondrion distribution (GO:0048311)|mitochondrion morphogenesis (GO:0070584)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|protein transport (GO:0015031)|regulation of vacuole organization (GO:0044088)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	intermediate filament binding (GO:0019215)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity (GO:0052629)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTTGCCCAATCACCATTGG	0.433																																						dbGAP											0													133.0	123.0	127.0					X																	149809752		2203	4300	6503	-	-	-	SO:0001583	missense	0			U46024	CCDS14694.1	Xq27.3-q28	2014-09-17			ENSG00000171100	ENSG00000171100		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7448	protein-coding gene	gene with protein product		300415	"""myotubular myopathy 1"""				Standard	NM_000252		Approved		uc004fef.4	Q13496	OTTHUMG00000024158	ENST00000370396.2:c.539A>G	X.37:g.149809752A>G	ENSP00000359423:p.Asn180Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDB1|B7Z491|F2Z330|Q8NEL1	Missense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.N180S	ENST00000370396.2	37	c.539	CCDS14694.1	X	.	.	.	.	.	.	.	.	.	.	a	13.96	2.392692	0.42410	.	.	ENSG00000171100	ENST00000370396;ENST00000542741;ENST00000543350;ENST00000413012	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.43	5.43	0.79202	Myotubularin phosphatase domain (1);	0.043457	0.85682	D	0.000000	D	0.91449	0.7301	M	0.65975	2.015	0.53688	D	0.999979	B;B	0.22146	0.065;0.026	B;B	0.28991	0.097;0.014	D	0.89168	0.3535	10	0.49607	T	0.09	.	14.771	0.69679	1.0:0.0:0.0:0.0	.	143;180	B7Z491;Q13496	.;MTM1_HUMAN	S	180;85;65;143	ENSP00000359423:N180S;ENSP00000444015:N85S;ENSP00000439784:N65S;ENSP00000389157:N143S	ENSP00000359423:N180S	N	+	2	0	MTM1	149560410	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	5.843000	0.69424	1.938000	0.56188	0.427000	0.28365	AAT	MTM1	-	NULL	ENSG00000171100		0.433	MTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MTM1	HGNC	protein_coding	OTTHUMT00000060847.3	268	0.00	0	A	NM_000252		149809752	149809752	+1	no_errors	ENST00000370396	ensembl	human	known	69_37n	missense	236	14.80	41	SNP	1.000	G
NF1	4763	genome.wustl.edu	37	17	29508508	29508509	+	Splice_Site	INS	-	-	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr17:29508508_29508509insT	ENST00000358273.4	+	6	1037		c.e6+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTGGAAAAGGTAAGTTACAAC	0.307			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												dbGAP	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)																																								-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.654+1->T	17.37:g.29508509_29508509dupT		Somatic		WXS	Illumina GAIIx	Phase_IV	O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	INS	-	e6+1	ENST00000358273.4	37	c.654+1_654+1	CCDS42292.1	17																																																																																			NF1	-	-	ENSG00000196712		0.307	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2	47	0.00	0	-	NM_000267	Intron	29508508	29508509	+1	no_errors	ENST00000358273	ensembl	human	known	69_37n	splice_site_ins	101	10.62	12	INS	1.000:1.000	T
NPAS4	266743	genome.wustl.edu	37	11	66190213	66190213	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr11:66190213G>A	ENST00000311034.2	+	4	675	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	167					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAACAAACTCGTGCTTATTCG	0.562																																						dbGAP											0													116.0	111.0	113.0					11																	66190213		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.499G>A	11.37:g.66190213G>A	ENSP00000311196:p.Val167Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.V167M	ENST00000311034.2	37	c.499	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713883	0.89112	.	.	ENSG00000174576	ENST00000311034	T	0.50277	0.75	5.74	5.74	0.90152	.	0.000000	0.51477	D	0.000085	T	0.56934	0.2019	M	0.62723	1.935	0.80722	D	1	D	0.56521	0.976	P	0.49887	0.625	T	0.60444	-0.7262	10	0.66056	D	0.02	-11.787	17.4135	0.87493	0.0:0.0:1.0:0.0	.	167	Q8IUM7	NPAS4_HUMAN	M	167	ENSP00000311196:V167M	ENSP00000311196:V167M	V	+	1	0	NPAS4	65946789	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.628000	0.90979	2.702000	0.92279	0.655000	0.94253	GTG	NPAS4	-	NULL	ENSG00000174576		0.562	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	104	0.00	0	G	NM_178864		66190213	66190213	+1	no_errors	ENST00000311034	ensembl	human	known	69_37n	missense	40	33.33	20	SNP	1.000	A
NPC1	4864	genome.wustl.edu	37	18	21118629	21118629	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr18:21118629T>A	ENST00000269228.5	-	20	3472	c.2918A>T	c.(2917-2919)gAc>gTc	p.D973V	NPC1_ENST00000412552.2_Missense_Mutation_p.D655V|NPC1_ENST00000540608.1_5'Flank	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	973					adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GCAGGCAGGGTCAACCACTGG	0.498																																						dbGAP											0													85.0	91.0	89.0					18																	21118629		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.2918A>T	18.37:g.21118629T>A	ENSP00000269228:p.Asp973Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DET3|Q9P130	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type	p.D973V	ENST00000269228.5	37	c.2918	CCDS11878.1	18	.	.	.	.	.	.	.	.	.	.	T	12.10	1.835163	0.32421	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.94092	-3.35;-3.35	5.15	5.15	0.70609	.	0.101670	0.64402	D	0.000001	D	0.91476	0.7309	L	0.59912	1.85	0.80722	D	1	B;B	0.14438	0.01;0.004	B;B	0.14023	0.01;0.01	D	0.88560	0.3122	10	0.41790	T	0.15	-28.7144	15.2643	0.73649	0.0:0.0:0.0:1.0	.	984;973	Q59GR1;O15118	.;NPC1_HUMAN	V	973;655	ENSP00000269228:D973V;ENSP00000408606:D655V	ENSP00000269228:D973V	D	-	2	0	NPC1	19372627	1.000000	0.71417	0.957000	0.39632	0.175000	0.22909	6.244000	0.72391	2.072000	0.62099	0.533000	0.62120	GAC	NPC1	-	tigrfam_NP_C_type	ENSG00000141458		0.498	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPC1	HGNC	protein_coding	OTTHUMT00000254823.2	93	0.00	0	T	NM_000271		21118629	21118629	-1	no_errors	ENST00000269228	ensembl	human	known	69_37n	missense	68	20.69	18	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176562356	176562356	+	Silent	SNP	A	A	G			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr5:176562356A>G	ENST00000439151.2	+	2	297	c.252A>G	c.(250-252)gtA>gtG	p.V84V	NSD1_ENST00000347982.4_Intron|NSD1_ENST00000361032.4_Silent_p.V84V|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	84					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGATCAATGTAGAGTATTTAA	0.433			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												dbGAP		Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													88.0	83.0	85.0					5																	176562356		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.252A>G	5.37:g.176562356A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PD8|Q96RN7	Silent	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.V84	ENST00000439151.2	37	c.252	CCDS4412.1	5																																																																																			NSD1	-	NULL	ENSG00000165671		0.433	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	115	0.00	0	A	NM_172349		176562356	176562356	+1	no_errors	ENST00000439151	ensembl	human	known	69_37n	silent	64	29.67	27	SNP	1.000	G
OR2T3	343173	genome.wustl.edu	37	1	248637580	248637580	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr1:248637580T>A	ENST00000359594.2	+	1	954	c.929T>A	c.(928-930)aTg>aAg	p.M310K		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	310						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGAGCATGATGCAGTCAAGA	0.468																																						dbGAP											0													186.0	200.0	195.0					1																	248637580		2202	4298	6500	-	-	-	SO:0001583	missense	0				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.929T>A	1.37:g.248637580T>A	ENSP00000352604:p.Met310Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNJ1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M310K	ENST00000359594.2	37	c.929	CCDS31117.1	1	.	.	.	.	.	.	.	.	.	.	t	5.587	0.293013	0.10567	.	.	ENSG00000196539	ENST00000359594	T	0.37584	1.19	0.819	-0.523	0.11924	.	.	.	.	.	T	0.20820	0.0501	N	0.21617	0.685	0.09310	N	1	B	0.25955	0.138	B	0.25987	0.065	T	0.26018	-1.0115	9	0.87932	D	0	.	2.9275	0.05788	0.0:0.3363:0.0:0.6637	.	310	Q8NH03	OR2T3_HUMAN	K	310	ENSP00000352604:M310K	ENSP00000352604:M310K	M	+	2	0	OR2T3	246704203	0.000000	0.05858	0.003000	0.11579	0.088000	0.18126	0.160000	0.16462	-0.194000	0.10399	0.156000	0.16432	ATG	OR2T3	-	NULL	ENSG00000196539		0.468	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T3	HGNC	protein_coding	OTTHUMT00000097348.1	543	0.00	0	T	NM_001005495		248637580	248637580	+1	no_errors	ENST00000359594	ensembl	human	known	69_37n	missense	360	25.41	123	SNP	0.019	A
OTOS	150677	genome.wustl.edu	37	2	241079498	241079498	+	Silent	SNP	C	C	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr2:241079498C>T	ENST00000391989.2	-	4	296	c.66G>A	c.(64-66)aaG>aaA	p.K22K	OTOS_ENST00000319460.1_Silent_p.K22K			Q8NHW6	OTOSP_HUMAN	otospiralin	22					sensory perception of sound (GO:0007605)	extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CCTGCACAGGCTTGGCCCCTG	0.567																																						dbGAP											0													57.0	56.0	57.0					2																	241079498		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2533.1	2q37.3	2008-02-05			ENSG00000178602	ENSG00000178602			22644	protein-coding gene	gene with protein product		607877				12687421	Standard	NM_148961		Approved	OTOSP	uc002vyv.3	Q8NHW6	OTTHUMG00000133351	ENST00000391989.2:c.66G>A	2.37:g.241079498C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53SW6	Silent	SNP	NULL	p.K22	ENST00000391989.2	37	c.66	CCDS2533.1	2																																																																																			OTOS	-	NULL	ENSG00000178602		0.567	OTOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOS	HGNC	protein_coding	OTTHUMT00000257181.3	47	0.00	0	C	NM_148961		241079498	241079498	-1	no_errors	ENST00000319460	ensembl	human	known	69_37n	silent	21	33.33	11	SNP	1.000	T
OTUD6A	139562	genome.wustl.edu	37	X	69283094	69283094	+	Silent	SNP	G	G	A			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chrX:69283094G>A	ENST00000338352.2	+	1	754	c.720G>A	c.(718-720)tcG>tcA	p.S240S		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	240	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGGCCGACTCGCCCACCTTGA	0.627																																						dbGAP											0													72.0	57.0	62.0					X																	69283094		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.720G>A	X.37:g.69283094G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPB7	Silent	SNP	pfam_OTU,pfscan_OTU	p.S240	ENST00000338352.2	37	c.720	CCDS14395.1	X																																																																																			OTUD6A	-	pfam_OTU,pfscan_OTU	ENSG00000189401		0.627	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD6A	HGNC	protein_coding	OTTHUMT00000358763.1	23	0.00	0	G	NM_207320		69283094	69283094	+1	no_errors	ENST00000338352	ensembl	human	known	69_37n	silent	24	35.14	13	SNP	0.008	A
PAX4	5078	genome.wustl.edu	37	7	127253883	127253883	+	Silent	SNP	C	C	A			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr7:127253883C>A	ENST00000341640.2	-	4	670	c.465G>T	c.(463-465)cgG>cgT	p.R155R	PAX4_ENST00000463946.1_Silent_p.R153R|PAX4_ENST00000338516.3_Silent_p.R163R|PAX4_ENST00000378740.2_Silent_p.R155R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	163					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTGGGTACCCCGGGGAGTCT	0.572																																					Ovarian(113;737 1605 7858 27720 34092)	dbGAP											0													71.0	68.0	69.0					7																	127253883		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.465G>T	7.37:g.127253883C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O95161|Q6B0H0	Silent	SNP	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.R155	ENST00000341640.2	37	c.465	CCDS5797.1	7																																																																																			PAX4	-	superfamily_Homeodomain-like	ENSG00000106331		0.572	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1	79	0.00	0	C			127253883	127253883	-1	no_errors	ENST00000341640	ensembl	human	known	69_37n	silent	62	37.62	38	SNP	0.998	A
PCDH9	5101	genome.wustl.edu	37	13	67205358	67205358	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr13:67205358G>T	ENST00000377865.2	-	3	3458	c.3324C>A	c.(3322-3324)aaC>aaA	p.N1108K	PCDH9_ENST00000544246.1_Missense_Mutation_p.N1108K|PCDH9_ENST00000456367.1_Missense_Mutation_p.N1074K|RNU7-87P_ENST00000459343.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.N1074K			Q9HC56	PCDH9_HUMAN	protocadherin 9	1108					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGGGATCAGAGTTGCCATCTG	0.483																																						dbGAP											0													102.0	103.0	103.0					13																	67205358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3324C>A	13.37:g.67205358G>T	ENSP00000367096:p.Asn1108Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N1108K	ENST00000377865.2	37	c.3324	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161199	0.57368	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.54071	0.67;0.67;0.59;0.59	5.49	2.39	0.29439	.	0.145381	0.47455	D	0.000233	T	0.60170	0.2248	L	0.35854	1.095	0.33214	D	0.553819	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.997	T	0.68808	-0.5311	10	0.51188	T	0.08	.	12.1248	0.53910	0.2778:0.0:0.7222:0.0	.	1066;1074;1108	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	K	1108;1108;1074;1074	ENSP00000442186:N1108K;ENSP00000367096:N1108K;ENSP00000401699:N1074K;ENSP00000332060:N1074K	ENSP00000332060:N1074K	N	-	3	2	PCDH9	66103359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.852000	0.55934	0.695000	0.31675	0.655000	0.94253	AAC	PCDH9	-	NULL	ENSG00000184226		0.483	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	114	0.00	0	G	NM_203487		67205358	67205358	-1	no_errors	ENST00000377865	ensembl	human	known	69_37n	missense	18	67.86	38	SNP	1.000	T
PCDHGA9	56107	genome.wustl.edu	37	5	140782854	140782854	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr5:140782854delA	ENST00000573521.1	+	1	335	c.335delA	c.(334-336)gacfs	p.D112fs	PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	112	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTTGAAGACAGAGTGAAA	0.507																																						dbGAP											0													66.0	70.0	69.0					5																	140782854		1941	4169	6110	-	-	-	SO:0001589	frameshift_variant	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.335delA	5.37:g.140782854delA	ENSP00000460274:p.Asp112fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU65|Q9Y5C9	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D112fs	ENST00000573521.1	37	c.335	CCDS58981.1	5																																																																																			PCDHGA9	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000261934		0.507	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	132	0.00	0	A	NM_018921		140782854	140782854	+1	no_errors	ENST00000573521	ensembl	human	known	69_37n	frame_shift_del	69	33.65	35	DEL	0.989	-
PIGR	5284	genome.wustl.edu	37	1	207112736	207112736	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr1:207112736G>T	ENST00000356495.4	-	3	299	c.116C>A	c.(115-117)aCg>aAg	p.T39K		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	39	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)	p.T39M(1)		central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GTAGTAGCACGTGATGGACAC	0.567																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											96.0	97.0	96.0					1																	207112736		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.116C>A	1.37:g.207112736G>T	ENSP00000348888:p.Thr39Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D81|Q8IZY7	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.T39K	ENST00000356495.4	37	c.116	CCDS1474.1	1	.	.	.	.	.	.	.	.	.	.	G	1.499	-0.552468	0.03996	.	.	ENSG00000162896	ENST00000356495	T	0.65549	-0.16	5.45	-5.21	0.02815	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.859459	0.10429	N	0.675795	T	0.36496	0.0969	N	0.17379	0.485	0.18873	N	0.999982	B	0.09022	0.002	B	0.15052	0.012	T	0.42766	-0.9432	10	0.05351	T	0.99	-17.1255	11.8742	0.52537	0.0:0.1183:0.5966:0.2852	.	39	P01833	PIGR_HUMAN	K	39	ENSP00000348888:T39K	ENSP00000348888:T39K	T	-	2	0	PIGR	205179359	0.000000	0.05858	0.496000	0.27539	0.876000	0.50452	-1.847000	0.01675	-1.673000	0.01462	-0.808000	0.03180	ACG	PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000162896		0.567	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	56	0.00	0	G	NM_002644		207112736	207112736	-1	no_errors	ENST00000356495	ensembl	human	known	69_37n	missense	20	61.54	32	SNP	0.090	T
POMC	5443	genome.wustl.edu	37	2	25384121	25384121	+	Silent	SNP	C	C	A			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr2:25384121C>A	ENST00000405623.1	-	3	1088	c.633G>T	c.(631-633)gtG>gtT	p.V211V	POMC_ENST00000264708.3_Silent_p.V211V|POMC_ENST00000380794.1_Silent_p.V211V|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000395826.2_Silent_p.V211V			P01189	COLI_HUMAN	proopiomelanocortin	211					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	TCTCGGCCGCCACCAGCAGGC	0.701																																					Colon(110;1515 1566 8452 10082 43216)	dbGAP											0													22.0	23.0	23.0					2																	25384121		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.633G>T	2.37:g.25384121C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P78442|Q53T23|Q9UD39|Q9UD40	Silent	SNP	pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH	p.V211	ENST00000405623.1	37	c.633	CCDS1717.1	2																																																																																			POMC	-	NULL	ENSG00000115138		0.701	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMC	HGNC	protein_coding	OTTHUMT00000211573.3	29	0.00	0	C	NM_001035256		25384121	25384121	-1	no_errors	ENST00000264708	ensembl	human	known	69_37n	silent	17	29.17	7	SNP	0.000	A
RPS5	6193	genome.wustl.edu	37	19	58899562	58899562	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr19:58899562T>C	ENST00000596046.1	+	1	907	c.58T>C	c.(58-60)Ttt>Ctt	p.F20L	RPS5_ENST00000601521.1_Missense_Mutation_p.F20L|RPS5_ENST00000598495.1_Missense_Mutation_p.F20L|RPS5_ENST00000196551.3_Missense_Mutation_p.F20L|MIR4754_ENST00000582477.1_RNA|RPS5_ENST00000598098.1_Missense_Mutation_p.F20L			P46782	RS5_HUMAN	ribosomal protein S5	20					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational fidelity (GO:0006450)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		CATCAAGCTCTTTGGGAAGTG	0.557																																						dbGAP											0													90.0	65.0	73.0					19																	58899562		2203	4299	6502	-	-	-	SO:0001583	missense	0			U14970	CCDS12978.1	19q13.4	2011-04-05				ENSG00000083845		"""S ribosomal proteins"""	10426	protein-coding gene	gene with protein product	"""40S ribosomal protein S5"""	603630				7772601, 9582194	Standard	NM_001009		Approved	S5	uc002qsn.3	P46782		ENST00000596046.1:c.58T>C	19.37:g.58899562T>C	ENSP00000472985:p.Phe20Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4T2|Q96BN0	Missense_Mutation	SNP	pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	p.F20L	ENST00000596046.1	37	c.58	CCDS12978.1	19	.	.	.	.	.	.	.	.	.	.	T	18.60	3.657926	0.67586	.	.	ENSG00000083845	ENST00000196551	.	.	.	4.12	4.12	0.48240	Ribosomal protein S7 domain (2);	0.000000	0.85682	D	0.000000	T	0.78444	0.4284	H	0.94658	3.565	0.80722	D	1	D	0.63880	0.993	P	0.53224	0.721	D	0.84491	0.0611	9	0.87932	D	0	-19.648	11.4211	0.49982	0.0:0.0:0.0:1.0	.	20	P46782	RS5_HUMAN	L	20	.	ENSP00000196551:F20L	F	+	1	0	RPS5	63591374	1.000000	0.71417	0.998000	0.56505	0.943000	0.58893	6.649000	0.74364	1.871000	0.54225	0.533000	0.62120	TTT	RPS5	-	superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc	ENSG00000083845		0.557	RPS5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPS5	HGNC	protein_coding	OTTHUMT00000467016.1	11	0.00	0	T	NM_001009		58899562	58899562	+1	no_errors	ENST00000196551	ensembl	human	known	69_37n	missense	3	66.67	6	SNP	1.000	C
RUNX1	861	genome.wustl.edu	37	21	36171616	36171616	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr21:36171616G>A	ENST00000344691.4	-	5	2445	c.868C>T	c.(868-870)Ctt>Ttt	p.L290F	RUNX1_ENST00000437180.1_Missense_Mutation_p.L317F|RUNX1_ENST00000300305.3_Missense_Mutation_p.L317F|RUNX1_ENST00000325074.5_Missense_Mutation_p.L305F|RUNX1_ENST00000399240.1_Missense_Mutation_p.L226F	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	290	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGACTGGAAAGTTCTGCAGAG	0.537			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0													157.0	144.0	148.0					21																	36171616		2203	4300	6503	-	-	-	SO:0001583	missense	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.868C>T	21.37:g.36171616G>A	ENSP00000340690:p.Leu290Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.L317F	ENST00000344691.4	37	c.949	CCDS42922.1	21	.	.	.	.	.	.	.	.	.	.	G	16.25	3.071143	0.55646	.	.	ENSG00000159216	ENST00000344691;ENST00000300305;ENST00000437180;ENST00000325074;ENST00000399240;ENST00000431176;ENST00000399245	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.78	3.94	0.45596	.	0.133715	0.51477	D	0.000087	T	0.74642	0.3743	L	0.59436	1.845	0.80722	D	1	D;D;D;D;P	0.89917	0.999;1.0;0.992;0.999;0.745	D;D;P;D;B	0.91635	0.981;0.999;0.856;0.996;0.133	T	0.72896	-0.4153	10	0.37606	T	0.19	-6.1018	14.8202	0.70068	0.0:0.0:0.7374:0.2626	.	293;185;317;305;290	C9JK12;Q01196-11;Q01196-8;Q01196-10;Q01196	.;.;.;.;RUNX1_HUMAN	F	290;317;317;305;226;51;293	ENSP00000340690:L290F;ENSP00000300305:L317F;ENSP00000409227:L317F;ENSP00000319459:L305F;ENSP00000382184:L226F	ENSP00000300305:L317F	L	-	1	0	RUNX1	35093486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.874000	0.39568	0.747000	0.32809	0.650000	0.86243	CTT	RUNX1	-	pirsf_TF_Runt-rel_RUNX	ENSG00000159216		0.537	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	78	0.00	0	G			36171616	36171616	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	missense	71	15.48	13	SNP	1.000	A
SCARB1	949	genome.wustl.edu	37	12	125271972	125271972	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr12:125271972G>C	ENST00000415380.2	-	10	1359	c.1234C>G	c.(1234-1236)Ccg>Gcg	p.P412A	SCARB1_ENST00000339570.5_Missense_Mutation_p.P412A|SCARB1_ENST00000541205.1_Missense_Mutation_p.P371A|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000544327.1_Missense_Mutation_p.P358A|SCARB1_ENST00000376788.1_Missense_Mutation_p.P312A|SCARB1_ENST00000540495.1_Missense_Mutation_p.P375A|SCARB1_ENST00000261693.6_Missense_Mutation_p.P412A|SCARB1_ENST00000546215.1_Missense_Mutation_p.P412A			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	412					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CAGAGCAGCGGCAGGACCACA	0.517																																						dbGAP											0													61.0	52.0	55.0					12																	125271972		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1234C>G	12.37:g.125271972G>C	ENSP00000414979:p.Pro412Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	pfam_CD36,prints_CD36,prints_CD36_antigen	p.P412A	ENST00000415380.2	37	c.1234		12	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811160	0.70797	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000376788;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495	D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.99162	0.9710	H	0.96398	3.815	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.989;0.989;0.982;0.982;0.981;1.0	D	0.99126	1.0851	10	0.87932	D	0	-45.6412	16.4646	0.84074	0.0:0.0:1.0:0.0	.	371;412;412;412;412;412	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	A	412;412;412;312;412;371;358;375	ENSP00000343795:P412A;ENSP00000414979:P412A;ENSP00000261693:P412A;ENSP00000365984:P312A;ENSP00000442862:P412A;ENSP00000446107:P371A;ENSP00000444851:P358A;ENSP00000443286:P375A	ENSP00000261693:P412A	P	-	1	0	SCARB1	123837925	1.000000	0.71417	0.999000	0.59377	0.625000	0.37756	5.346000	0.65992	2.688000	0.91661	0.655000	0.94253	CCG	SCARB1	-	pfam_CD36	ENSG00000073060		0.517	SCARB1-006	KNOWN	basic	protein_coding	SCARB1	HGNC	protein_coding	OTTHUMT00000400165.1	13	0.00	0	G	NM_005505		125271972	125271972	-1	no_errors	ENST00000415380	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	C
STON1	11037	genome.wustl.edu	37	2	48808110	48808110	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr2:48808110C>T	ENST00000406226.1	+	3	533	c.338C>T	c.(337-339)cCa>cTa	p.P113L	STON1_ENST00000309835.3_Missense_Mutation_p.P113L|STON1_ENST00000404752.1_Missense_Mutation_p.P113L|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P113L|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P113L|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P113L|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P113L|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P113L	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	113					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGACAGCCCACTCGCAATA	0.473																																						dbGAP											0													112.0	108.0	110.0					2																	48808110		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.338C>T	2.37:g.48808110C>T	ENSP00000384615:p.Pro113Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD	p.P113L	ENST00000406226.1	37	c.338	CCDS1841.1	2	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426236	0.25726	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.10860	2.86;2.86;2.86;2.84;2.83;2.84;2.84;3.02	5.24	4.37	0.52481	.	0.311359	0.35067	N	0.003467	T	0.13329	0.0323	L	0.56769	1.78	0.09310	N	0.999997	B;B;B	0.30664	0.121;0.006;0.289	B;B;B	0.30105	0.111;0.005;0.07	T	0.11275	-1.0594	10	0.51188	T	0.08	.	12.9915	0.58622	0.0:0.9215:0.0:0.0785	.	113;113;113	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	L	113	ENSP00000385273:P113L;ENSP00000384615:P113L;ENSP00000310969:P113L;ENSP00000385499:P113L;ENSP00000385701:P113L;ENSP00000378236:P113L;ENSP00000311493:P113L;ENSP00000378234:P113L	ENSP00000310969:P113L	P	+	2	0	STON1-GTF2A1L;STON1	48661614	0.000000	0.05858	0.006000	0.13384	0.847000	0.48162	0.796000	0.26986	1.583000	0.49898	0.655000	0.94253	CCA	STON1-GTF2A1L	-	NULL	ENSG00000068781		0.473	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STON1-GTF2A1L	HGNC	protein_coding	OTTHUMT00000323848.2	119	0.00	0	C	NM_006873		48808110	48808110	+1	no_errors	ENST00000309827	ensembl	human	known	69_37n	missense	138	18.34	31	SNP	0.056	T
SEPT10	151011	genome.wustl.edu	37	2	110301779	110301779	+	3'UTR	SNP	A	A	C	rs200598502	byFrequency	TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr2:110301779A>C	ENST00000397712.2	-	0	1850				SEPT10_ENST00000397714.2_3'UTR|SEPT10_ENST00000334001.6_3'UTR|SEPT10_ENST00000356688.4_Missense_Mutation_p.F519V|SEPT10_ENST00000468616.1_5'Flank	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						TGTTCACCAAATATAGAAGTG	0.338																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.*107T>G	2.37:g.110301779A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.F519V	ENST00000397712.2	37	c.1555	CCDS46383.1	2	.	.	.	.	.	.	.	.	.	.	A	8.972	0.973228	0.18736	.	.	ENSG00000186522	ENST00000356688	T	0.54279	0.58	5.37	1.66	0.24008	.	1.901300	0.02724	N	0.114273	T	0.40645	0.1125	.	.	.	0.20638	N	0.999879	B	0.06786	0.001	B	0.08055	0.003	T	0.31194	-0.9952	9	0.87932	D	0	.	2.1719	0.03852	0.5923:0.1635:0.0874:0.1567	.	519	B5ME97	.	V	519	ENSP00000349116:F519V	ENSP00000349116:F519V	F	-	1	0	SEPT10	109659068	0.087000	0.21565	0.491000	0.27477	0.028000	0.11728	0.685000	0.25378	0.099000	0.17552	0.482000	0.46254	TTT	SEPT10	-	NULL	ENSG00000186522		0.338	SEPT10-001	KNOWN	basic|CCDS	protein_coding	SEPT10	HGNC	protein_coding	OTTHUMT00000337804.1	24	0.00	0	A	NM_144710		110301779	110301779	-1	no_errors	ENST00000356688	ensembl	human	putative	69_37n	missense	12	29.41	5	SNP	0.348	C
WDR73	84942	genome.wustl.edu	37	15	85186892	85186892	+	Missense_Mutation	SNP	C	C	T	rs11267906|rs372798651|rs199676984	byFrequency	TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr15:85186892C>T	ENST00000434634.2	-	8	1006	c.946G>A	c.(946-948)Gga>Aga	p.G316R	WDR73_ENST00000398528.3_5'UTR|SCAND2P_ENST00000348993.5_RNA	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	316										cervix(1)|large_intestine(1)|lung(1)	3						CTCCGTGTTCCATCTTGGCTC	0.502																																						dbGAP											0													99.0	98.0	98.0					15																	85186892		2049	4178	6227	-	-	-	SO:0001583	missense	0			AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.946G>A	15.37:g.85186892C>T	ENSP00000387982:p.Gly316Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96JZ1|Q9P0B7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.G316R	ENST00000434634.2	37	c.946	CCDS45339.1	15	.	.	.	.	.	.	.	.	.	.	c	3.859	-0.030219	0.07543	.	.	ENSG00000177082	ENST00000398528;ENST00000434634	T	0.28895	1.59	.	.	.	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.14399	0.0348	N	0.08118	0	0.09310	N	1	B	0.17667	0.023	B	0.16722	0.016	T	0.24261	-1.0165	7	0.72032	D	0.01	.	.	.	.	.	316	Q6P4I2	WDR73_HUMAN	R	324;316	ENSP00000387982:G316R	ENSP00000381539:G324R	G	-	1	0	WDR73	82987896	.	.	0.029000	0.17559	0.086000	0.17979	.	.	0.064000	0.16427	0.064000	0.15345	GGA	WDR73	-	superfamily_WD40_repeat_dom	ENSG00000177082		0.502	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR73	HGNC	protein_coding	OTTHUMT00000418195.1	16	0.00	0	C	NM_032856		85186892	85186892	-1	no_errors	ENST00000434634	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	0.009	T
ZFHX3	463	genome.wustl.edu	37	16	72830410	72830411	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A0AD-01A-11W-A071-09	TCGA-A8-A0AD-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	6e6511fa-4f6e-4184-84b8-9e9e7a863632	6efc67f6-3999-44ca-859b-c1fb69c7c699	g.chr16:72830410_72830411insT	ENST00000268489.5	-	9	6842_6843	c.6170_6171insA	c.(6169-6171)cagfs	p.Q2057fs	ZFHX3_ENST00000397992.5_Frame_Shift_Ins_p.Q1143fs	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2057					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGGACGCCGGCTGAGGCGGCGC	0.668																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.6171dupA	16.37:g.72830411_72830411dupT	ENSP00000268489:p.Gln2057fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWS8|O15101|Q13719	Frame_Shift_Ins	INS	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.P2058fs	ENST00000268489.5	37	c.6171_6170	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.668	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	32	0.00	0	-	NM_006885		72830410	72830411	-1	no_errors	ENST00000268489	ensembl	human	known	69_37n	frame_shift_ins	15	34.78	8	INS	1.000:1.000	T
