#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
ABCA10	10349	genome.wustl.edu	37	17	67212357	67212357	+	Splice_Site	SNP	C	C	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr17:67212357C>A	ENST00000269081.4	-	8	1582		c.e8+1		ABCA10_ENST00000432313.2_Splice_Site|ABCA10_ENST00000416101.2_Splice_Site	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TACCAACTCACCAAAGAAAGG	0.338																																						dbGAP											0													140.0	147.0	144.0					17																	67212357		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.672+1G>T	17.37:g.67212357C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Splice_Site	SNP	-	e5+1	ENST00000269081.4	37	c.672+1	CCDS11684.1	17	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537118	0.45176	.	.	ENSG00000154263	ENST00000269081;ENST00000416101;ENST00000432313	.	.	.	3.34	3.34	0.38264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6916	0.51519	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ABCA10	64723952	0.998000	0.40836	0.996000	0.52242	0.762000	0.43233	0.766000	0.26560	1.699000	0.51192	0.609000	0.83330	.	ABCA10	-	-	ENSG00000154263		0.338	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA10	HGNC	protein_coding	OTTHUMT00000379881.4	31	0.00	0	C	NM_080282	Intron	67212357	67212357	-1	no_errors	ENST00000269081	ensembl	human	known	69_37n	splice_site	38	17.39	8	SNP	1.000	A
ARID1A	8289	genome.wustl.edu	37	1	27106363	27106363	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr1:27106363T>C	ENST00000324856.7	+	20	6345	c.5974T>C	c.(5974-5976)Tca>Cca	p.S1992P	ARID1A_ENST00000540690.1_Missense_Mutation_p.S320P|ARID1A_ENST00000457599.2_Missense_Mutation_p.S1775P|ARID1A_ENST00000374152.2_Missense_Mutation_p.S1609P	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1992					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCGAAGCCTGTCATTTGTGCC	0.547			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	dbGAP		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													112.0	96.0	101.0					1																	27106363		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5974T>C	1.37:g.27106363T>C	ENSP00000320485:p.Ser1992Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S1992P	ENST00000324856.7	37	c.5974	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.2|21.2	4.117037|4.117037	0.77323|0.77323	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	T;T;T;T|.	0.38240|.	1.15;1.15;1.15;1.15|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77624|0.77624	0.4158|0.4158	M|M	0.83603|0.83603	2.65|2.65	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.91635|.	0.996;0.999;0.997|.	T|T	0.80032|0.80032	-0.1552|-0.1552	10|5	0.87932|.	D|.	0|.	-7.8875|-7.8875	15.1577|15.1577	0.72755|0.72755	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1609;1992;1775|.	O14497-3;O14497;O14497-2|.	.;ARI1A_HUMAN;.|.	P|A	1992;1775;1609;320|888	ENSP00000320485:S1992P;ENSP00000387636:S1775P;ENSP00000363267:S1609P;ENSP00000442437:S320P|.	ENSP00000320485:S1992P|.	S|V	+|+	1|2	0|0	ARID1A|ARID1A	26978950|26978950	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.668000|7.668000	0.83897|0.83897	2.227000|2.227000	0.72691|0.72691	0.391000|0.391000	0.25812|0.25812	TCA|GTC	ARID1A	-	pfam_DUF3518	ENSG00000117713		0.547	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	60	0.00	0	T	NM_139135		27106363	27106363	+1	no_errors	ENST00000324856	ensembl	human	known	69_37n	missense	30	51.56	33	SNP	1.000	C
BACH2	60468	genome.wustl.edu	37	6	90660252	90660252	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr6:90660252A>T	ENST00000257749.4	-	7	2280	c.1573T>A	c.(1573-1575)Tcc>Acc	p.S525T	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.S525T|BACH2_ENST00000537989.1_Missense_Mutation_p.S525T|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	525						cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TAGGAATAGGAAGAGCAGGAG	0.632																																						dbGAP											0													56.0	60.0	59.0					6																	90660252		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1573T>A	6.37:g.90660252A>T	ENSP00000257749:p.Ser525Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.S525T	ENST00000257749.4	37	c.1573	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	A	18.87	3.715496	0.68844	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.60299	0.2;0.2;0.2	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	L	0.29908	0.895	0.51012	D	0.999901	D	0.69078	0.997	D	0.75020	0.985	T	0.61207	-0.7109	10	0.48119	T	0.1	-12.443	15.0695	0.72024	1.0:0.0:0.0:0.0	.	525	Q9BYV9	BACH2_HUMAN	T	525	ENSP00000257749:S525T;ENSP00000437473:S525T;ENSP00000345642:S525T	ENSP00000257749:S525T	S	-	1	0	BACH2	90716973	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	8.730000	0.91510	1.972000	0.57404	0.377000	0.23210	TCC	BACH2	-	NULL	ENSG00000112182		0.632	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	35	0.00	0	A	NM_021813		90660252	90660252	-1	no_errors	ENST00000257749	ensembl	human	known	69_37n	missense	22	40.54	15	SNP	1.000	T
BTBD16	118663	genome.wustl.edu	37	10	124097568	124097569	+	Frame_Shift_Ins	INS	-	-	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr10:124097568_124097569insT	ENST00000260723.4	+	16	1740_1741	c.1489_1490insT	c.(1489-1491)gtafs	p.V497fs	BTBD16_ENST00000368994.2_Frame_Shift_Ins_p.V498fs	NM_144587.2	NP_653188.2	Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	497										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCCAATCTATGTAAGTTTTGCA	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK058088	CCDS31301.1	10q26.13	2013-01-24	2006-07-04	2006-07-04	ENSG00000138152	ENSG00000138152		"""BTB/POZ domain containing"""	26340	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 87"""	C10orf87			Standard	NM_144587		Approved	FLJ25359, Em:AC061711.1	uc001lgc.1	Q32M84	OTTHUMG00000019182	ENST00000260723.4:c.1490dupT	10.37:g.124097569_124097569dupT	ENSP00000260723:p.Val497fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM63|Q4VXL1|Q96LN0	Frame_Shift_Ins	INS	superfamily_BTB/POZ_fold	p.S499fs	ENST00000260723.4	37	c.1492_1493	CCDS31301.1	10																																																																																			BTBD16	-	NULL	ENSG00000138152		0.376	BTBD16-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTBD16	HGNC	protein_coding	OTTHUMT00000050780.3	138	0.00	0	-	NM_144587		124097568	124097569	+1	no_errors	ENST00000368994	ensembl	human	known	69_37n	frame_shift_ins	71	27.55	27	INS	0.980:0.847	T
CCBL2	56267	genome.wustl.edu	37	1	89434456	89434456	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr1:89434456T>C	ENST00000260508.4	-	4	537	c.200A>G	c.(199-201)aAt>aGt	p.N67S	CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370485.2_Missense_Mutation_p.N67S|CCBL2_ENST00000370491.3_Missense_Mutation_p.N33S	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	67					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		TTGGCCAAGATTCACAACAGA	0.343																																						dbGAP											0													73.0	73.0	73.0					1																	89434456		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.200A>G	1.37:g.89434456T>C	ENSP00000260508:p.Asn67Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.N67S	ENST00000260508.4	37	c.200	CCDS30766.1	1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463875	0.84425	.	.	ENSG00000137944	ENST00000370491;ENST00000260508;ENST00000370485;ENST00000370486	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.43	5.43	0.79202	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.042277	0.85682	D	0.000000	D	0.95586	0.8565	M	0.83118	2.625	0.53005	D	0.999966	D	0.76494	0.999	D	0.80764	0.994	D	0.96357	0.9263	10	0.87932	D	0	-3.9947	15.4621	0.75366	0.0:0.0:0.0:1.0	.	67	Q6YP21	KAT3_HUMAN	S	33;67;67;67	ENSP00000359522:N33S;ENSP00000260508:N67S;ENSP00000359516:N67S;ENSP00000359517:N67S	ENSP00000260508:N67S	N	-	2	0	CCBL2	89207044	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.375000	0.79646	2.062000	0.61559	0.477000	0.44152	AAT	CCBL2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	ENSG00000137944		0.343	CCBL2-004	KNOWN	basic|CCDS	protein_coding	CCBL2	HGNC	protein_coding	OTTHUMT00000029300.3	40	0.00	0	T	NM_001008661		89434456	89434456	-1	no_errors	ENST00000260508	ensembl	human	known	69_37n	missense	25	32.43	12	SNP	1.000	C
CEACAM20	125931	genome.wustl.edu	37	19	45024705	45024705	+	RNA	SNP	G	G	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr19:45024705G>A	ENST00000454753.1	-	0	1111							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGATTGACGGTTTGGCAGGT	0.537																																						dbGAP											0													118.0	116.0	117.0					19																	45024705		2115	4243	6358	-	-	-			0			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45024705G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-	ENSG00000176395		0.537	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	40	0.00	0	G	NM_198444		45024705	45024705	-1	no_errors	ENST00000316962	ensembl	human	known	69_37n	rna	36	23.40	11	SNP	0.000	A
CENPK	64105	genome.wustl.edu	37	5	64824380	64824380	+	Missense_Mutation	SNP	T	T	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr5:64824380T>A	ENST00000396679.1	-	9	710	c.496A>T	c.(496-498)Atg>Ttg	p.M166L	CENPK_ENST00000508421.1_Missense_Mutation_p.M136L|CENPK_ENST00000514814.1_Missense_Mutation_p.M166L|CENPK_ENST00000506282.2_5'UTR|CENPK_ENST00000510693.1_Missense_Mutation_p.M103L|CENPK_ENST00000242872.3_Missense_Mutation_p.M166L	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	166					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		ATATTAAGCATTTTAGTTTTC	0.279																																						dbGAP											0													23.0	25.0	24.0					5																	64824380		2201	4286	6487	-	-	-	SO:0001583	missense	0			BC008504	CCDS3984.1	5q12.3	2013-11-05			ENSG00000123219	ENSG00000123219			29479	protein-coding gene	gene with protein product		611502				8950979	Standard	NM_022145		Approved	FKSG14, SOLT, CENP-K	uc003jtu.3	Q9BS16	OTTHUMG00000131227	ENST00000396679.1:c.496A>T	5.37:g.64824380T>A	ENSP00000379911:p.Met166Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H4L0	Missense_Mutation	SNP	pfam_Centromere_CenpK,superfamily_Prefoldin	p.M166L	ENST00000396679.1	37	c.496	CCDS3984.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.363|8.363	0.833595|0.833595	0.16820|0.16820	.|.	.|.	ENSG00000123219|ENSG00000123219	ENST00000514814;ENST00000396679;ENST00000242872;ENST00000508421;ENST00000510693;ENST00000515497|ENST00000509397	.|.	.|.	.|.	5.54|5.54	-4.07|-4.07	0.03975|0.03975	.|.	0.479343|.	0.25906|.	N|.	0.027521|.	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.42245|0.42245	1.32|1.32	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.40496|0.40496	-0.9560|-0.9560	9|5	0.06494|.	T|.	0.89|.	2.0334|2.0334	10.3924|10.3924	0.44181|0.44181	0.2055:0.0:0.5296:0.2649|0.2055:0.0:0.5296:0.2649	.|.	166|.	Q9BS16|.	CENPK_HUMAN|.	L|I	166;166;166;136;103;168|78	.|.	ENSP00000242872:M166L|.	M|N	-|-	1|2	0|0	CENPK|CENPK	64860136|64860136	0.509000|0.509000	0.26163|0.26163	0.004000|0.004000	0.12327|0.12327	0.226000|0.226000	0.24999|0.24999	-0.374000|-0.374000	0.07484|0.07484	-0.866000|-0.866000	0.04068|0.04068	-0.389000|-0.389000	0.06534|0.06534	ATG|AAT	CENPK	-	pfam_Centromere_CenpK	ENSG00000123219		0.279	CENPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPK	HGNC	protein_coding	OTTHUMT00000253971.2	37	0.00	0	T	NM_022145		64824380	64824380	-1	no_errors	ENST00000242872	ensembl	human	known	69_37n	missense	31	32.61	15	SNP	0.126	A
COL4A5	1287	genome.wustl.edu	37	X	107834827	107834828	+	Frame_Shift_Ins	INS	-	-	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chrX:107834827_107834828insA	ENST00000361603.2	+	21	1620_1621	c.1376_1377insA	c.(1375-1380)ccaggafs	p.G460fs	COL4A5_ENST00000328300.6_Frame_Shift_Ins_p.G460fs	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	460	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCAGGCCCCCCAGGATCTCCAG	0.396									Alport syndrome with Diffuse Leiomyomatosis																													dbGAP											0			GRCh37	CD961912	COL4A5	D	rs104886113																																			-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.1377dupA	X.37:g.107834828_107834828dupA	ENSP00000354505:p.Gly460fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Frame_Shift_Ins	INS	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G460fs	ENST00000361603.2	37	c.1376_1377	CCDS14543.1	X																																																																																			COL4A5	-	NULL	ENSG00000188153		0.396	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	47	0.00	0	-			107834827	107834828	+1	no_errors	ENST00000328300	ensembl	human	known	69_37n	frame_shift_ins	26	42.22	19	INS	0.981:0.853	A
DIAPH1	1729	genome.wustl.edu	37	5	140960365	140960365	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr5:140960365A>C	ENST00000398557.4	-	8	910	c.770T>G	c.(769-771)aTt>aGt	p.I257S	DIAPH1_ENST00000520569.1_Missense_Mutation_p.I203S|DIAPH1_ENST00000253811.6_Missense_Mutation_p.I257S|DIAPH1_ENST00000398566.3_Missense_Mutation_p.I248S|DIAPH1_ENST00000389054.3_Missense_Mutation_p.I257S|DIAPH1_ENST00000398562.2_Missense_Mutation_p.I248S|DIAPH1_ENST00000389057.5_Missense_Mutation_p.I248S|DIAPH1_ENST00000518047.1_Missense_Mutation_p.I248S	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	257	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGCATCAATCATCATGTT	0.428																																						dbGAP											0													110.0	108.0	109.0					5																	140960365		1934	4154	6088	-	-	-	SO:0001583	missense	0			BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.770T>G	5.37:g.140960365A>C	ENSP00000381565:p.Ile257Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Formin_homology_1,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg	p.I257S	ENST00000398557.4	37	c.770	CCDS43374.1	5	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331782	0.60853	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	D;D;D;D;D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53;-2.53	5.69	5.69	0.88448	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.275476	0.30374	N	0.009763	D	0.90738	0.7093	L	0.29908	0.895	0.43608	D	0.995975	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	D	0.91186	0.4980	10	0.49607	T	0.09	.	14.9187	0.70818	1.0:0.0:0.0:0.0	.	248;257	E9PEZ2;O60610	.;DIAP1_HUMAN	S	257;203;248;248;248;257;257;248	ENSP00000373706:I257S;ENSP00000429282:I203S;ENSP00000381570:I248S;ENSP00000373709:I248S;ENSP00000381572:I248S;ENSP00000381565:I257S;ENSP00000253811:I257S;ENSP00000428268:I248S	ENSP00000253811:I257S	I	-	2	0	DIAPH1	140940549	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.808000	0.62583	2.168000	0.68352	0.454000	0.30748	ATT	DIAPH1	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold	ENSG00000131504		0.428	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	DIAPH1	HGNC	protein_coding		35	0.00	0	A	NM_005219		140960365	140960365	-1	no_errors	ENST00000253811	ensembl	human	known	69_37n	missense	14	46.15	12	SNP	1.000	C
DNA2	1763	genome.wustl.edu	37	10	70182350	70182350	+	Missense_Mutation	SNP	A	A	C			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr10:70182350A>C	ENST00000358410.3	-	16	2464	c.2414T>G	c.(2413-2415)aTg>aGg	p.M805R	DNA2_ENST00000399179.2_Intron|DNA2_ENST00000399180.2_Missense_Mutation_p.M891R	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	805	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						GCTTTCACTCATGCCAAGAGC	0.363																																						dbGAP											0													207.0	194.0	198.0					10																	70182350		1869	4105	5974	-	-	-	SO:0001583	missense	0			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.2414T>G	10.37:g.70182350A>C	ENSP00000351185:p.Met805Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Missense_Mutation	SNP	pfam_DNA_replication_fac_Dna2	p.M891R	ENST00000358410.3	37	c.2672		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.0|22.0	4.224674|4.224674	0.79576|0.79576	.|.	.|.	ENSG00000138346|ENSG00000138346	ENST00000440722|ENST00000399180;ENST00000358410	.|D;D	.|0.92495	.|-3.05;-3.05	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96558|0.96558	0.8877|0.8877	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.76071	.|0.987	D|D	0.97315|0.97315	0.9940|0.9940	5|10	.|0.87932	.|D	.|0	.|.	15.6974|15.6974	0.77512|0.77512	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|805	.|P51530	.|DNA2L_HUMAN	Q|R	126|891;805	.|ENSP00000382133:M891R;ENSP00000351185:M805R	.|ENSP00000351185:M805R	H|M	-|-	3|2	2|0	DNA2|DNA2	69852356|69852356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.978000|8.978000	0.93450|0.93450	2.108000|2.108000	0.64289|0.64289	0.528000|0.528000	0.53228|0.53228	CAT|ATG	DNA2	-	NULL	ENSG00000138346		0.363	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	HGNC	protein_coding	OTTHUMT00000048334.2	63	0.00	0	A			70182350	70182350	-1	no_errors	ENST00000399180	ensembl	human	known	69_37n	missense	45	36.62	26	SNP	1.000	C
DNAH9	1770	genome.wustl.edu	37	17	11572851	11572851	+	Silent	SNP	C	C	T	rs202073066|rs36016893		TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr17:11572851C>T	ENST00000262442.4	+	17	3161	c.3093C>T	c.(3091-3093)taC>taT	p.Y1031Y	DNAH9_ENST00000454412.2_Silent_p.Y1031Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1031	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCTGCTGTACGGGCACATCC	0.517																																						dbGAP											0													136.0	133.0	134.0					17																	11572851		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.3093C>T	17.37:g.11572851C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.Y1031	ENST00000262442.4	37	c.3093	CCDS11160.1	17																																																																																			DNAH9	-	NULL	ENSG00000007174		0.517	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	52	0.00	0	C	NM_001372		11572851	11572851	+1	no_errors	ENST00000262442	ensembl	human	known	69_37n	silent	8	65.22	15	SNP	0.854	T
DYM	54808	genome.wustl.edu	37	18	46808427	46808427	+	Silent	SNP	C	C	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr18:46808427C>T	ENST00000269445.6	-	10	1522	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	DYM_ENST00000442713.2_Silent_p.L165L	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	355					bone development (GO:0060348)|Golgi organization (GO:0007030)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	enzyme binding (GO:0019899)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						TTTGATGGAGCAAGGTATACA	0.358																																						dbGAP											0													109.0	104.0	106.0					18																	46808427		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000078	CCDS11937.1	18q21.1	2008-03-12			ENSG00000141627	ENSG00000141627			21317	protein-coding gene	gene with protein product		607461					Standard	NM_017653		Approved	FLJ20071, DMC, SMC	uc002ldi.1	Q7RTS9	OTTHUMG00000132659	ENST00000269445.6:c.1065G>A	18.37:g.46808427C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5I8|B2RCF9|B4DKI7|Q3ZTS8|Q6P2P5|Q8N2M0|Q9BVE9|Q9NPU7	Silent	SNP	pfam_Dymeclin,superfamily_ARM-type_fold	p.L355	ENST00000269445.6	37	c.1065	CCDS11937.1	18																																																																																			DYM	-	pfam_Dymeclin,superfamily_ARM-type_fold	ENSG00000141627		0.358	DYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYM	HGNC	protein_coding	OTTHUMT00000255912.3	60	0.00	0	C	NM_017653		46808427	46808427	-1	no_errors	ENST00000269445	ensembl	human	known	69_37n	silent	42	40.00	28	SNP	0.996	T
EBF3	253738	genome.wustl.edu	37	10	131640515	131640515	+	Missense_Mutation	SNP	A	A	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr10:131640515A>T	ENST00000355311.5	-	13	1309	c.1237T>A	c.(1237-1239)Tac>Aac	p.Y413N	EBF3_ENST00000368648.3_Missense_Mutation_p.Y404N|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	413					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGAACGCTGTACAGCGCCTCG	0.657																																						dbGAP											0													186.0	155.0	166.0					10																	131640515		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1237T>A	10.37:g.131640515A>T	ENSP00000347463:p.Tyr413Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.Y413N	ENST00000355311.5	37	c.1237		10	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847660	0.71603	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.52526	0.66;0.66	5.54	5.54	0.83059	.	0.111469	0.64402	D	0.000006	T	0.67211	0.2869	M	0.76170	2.325	0.80722	D	1	D	0.67145	0.996	D	0.64410	0.925	T	0.69767	-0.5056	10	0.52906	T	0.07	-18.7773	15.9783	0.80086	1.0:0.0:0.0:0.0	.	404	Q9H4W6-2	.	N	413;404	ENSP00000347463:Y413N;ENSP00000357637:Y404N	ENSP00000347463:Y413N	Y	-	1	0	EBF3	131530505	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	9.247000	0.95444	2.240000	0.73641	0.528000	0.53228	TAC	EBF3	-	NULL	ENSG00000108001		0.657	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	HGNC	protein_coding	OTTHUMT00000051015.2	26	0.00	0	A	NM_001005463		131640515	131640515	-1	no_errors	ENST00000355311	ensembl	human	known	69_37n	missense	17	29.17	7	SNP	1.000	T
EML6	400954	genome.wustl.edu	37	2	55144045	55144045	+	Silent	SNP	C	C	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr2:55144045C>T	ENST00000356458.6	+	25	4168	c.3648C>T	c.(3646-3648)ttC>ttT	p.F1216F		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	1216						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						ATTTTGGTTTCGTTAAGCTTT	0.383																																						dbGAP											0													143.0	118.0	126.0					2																	55144045		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.3648C>T	2.37:g.55144045C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUB5|B6ZDG7	Silent	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1216	ENST00000356458.6	37	c.3648	CCDS46286.1	2																																																																																			EML6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000214595		0.383	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	53	0.00	0	C	XM_001725002		55144045	55144045	+1	no_errors	ENST00000356458	ensembl	human	novel	69_37n	silent	33	32.65	16	SNP	0.996	T
FRK	2444	genome.wustl.edu	37	6	116381284	116381284	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr6:116381284C>G	ENST00000606080.1	-	1	637	c.191G>C	c.(190-192)cGa>cCa	p.R64P		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	64	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	GTCACCTGCTCGGAAGCTCAA	0.522																																						dbGAP											0													120.0	120.0	120.0					6																	116381284		2203	4300	6503	-	-	-	SO:0001583	missense	0			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.191G>C	6.37:g.116381284C>G	ENSP00000476145:p.Arg64Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.R64P	ENST00000606080.1	37	c.191	CCDS5103.1	6	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236818	0.22711	.	.	ENSG00000111816	ENST00000368626	T	0.51574	0.7	4.74	-3.96	0.04106	Src homology-3 domain (5);	0.486632	0.17596	N	0.168585	T	0.26774	0.0655	L	0.39633	1.23	0.38021	D	0.934853	P	0.35821	0.523	B	0.43052	0.406	T	0.29058	-1.0024	10	0.72032	D	0.01	.	13.0196	0.58779	0.0:0.3925:0.0:0.6075	.	64	P42685	FRK_HUMAN	P	64	ENSP00000357615:R64P	ENSP00000357615:R64P	R	-	2	0	FRK	116487977	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.001000	0.03690	-1.122000	0.02945	-0.136000	0.14681	CGA	FRK	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain	ENSG00000111816		0.522	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRK	HGNC	protein_coding	OTTHUMT00000041924.2	39	0.00	0	C	NM_002031		116381284	116381284	-1	no_errors	ENST00000368626	ensembl	human	known	69_37n	missense	25	41.86	18	SNP	0.001	G
GOLGA6L6	727832	genome.wustl.edu	37	15	20739675	20739675	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr15:20739675C>T	ENST00000427390.2	-	8	2165	c.2075G>A	c.(2074-2076)cGa>cAa	p.R692Q		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	692	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						ctcctgctctcgtatcttctc	0.517																																						dbGAP											0													3.0	4.0	4.0					15																	20739675		563	1379	1942	-	-	-	SO:0001583	missense	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.2075G>A	15.37:g.20739675C>T	ENSP00000398615:p.Arg692Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3YTC0	Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.R692Q	ENST00000427390.2	37	c.2075	CCDS45184.1	15	.	.	.	.	.	.	.	.	.	.	C	4.169	0.029910	0.08101	.	.	ENSG00000215405	ENST00000427390	T	0.08546	3.08	.	.	.	.	.	.	.	.	T	0.04497	0.0123	L	0.39898	1.24	0.09310	N	0.999998	B	0.31193	0.312	B	0.12156	0.007	T	0.41484	-0.9506	8	0.08837	T	0.75	.	2.9181	0.05760	0.4916:0.508:2.0E-4:2.0E-4	.	692	A8MZA4	GG6L6_HUMAN	Q	692	ENSP00000398615:R692Q	ENSP00000398615:R692Q	R	-	2	0	GOLGA6L6	18999689	0.000000	0.05858	0.072000	0.20136	0.073000	0.16967	-0.275000	0.08525	0.159000	0.19401	0.162000	0.16502	CGA	GOLGA6L6	-	NULL	ENSG00000215405		0.517	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	41	0.00	0	C	NM_001145004		20739675	20739675	-1	no_errors	ENST00000427390	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	0.716	T
GOLGA6L6	727832	genome.wustl.edu	37	15	20740459	20740461	+	In_Frame_Del	DEL	TCG	TCG	-			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	TCG	TCG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr15:20740459_20740461delTCG	ENST00000427390.2	-	8	1379_1381	c.1289_1291delCGA	c.(1288-1293)gcgaag>gag	p.430_431AK>E		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	430	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						ctccacatcttcgcctcctgctc	0.552																																						dbGAP											0										16,452		5,6,223							0.0			1	60,546		25,10,268	no	coding	GOLGA6L6	NM_001145004.1		30,16,491	A1A1,A1R,RR		9.901,3.4188,7.0764				76,998				-	-	-	SO:0001651	inframe_deletion	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1289_1291delCGA	15.37:g.20740459_20740461delTCG	ENSP00000398615:p.Ala430_Lys431delinsGlu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3YTC0	In_Frame_Del	DEL	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.AK430in_frame_delE	ENST00000427390.2	37	c.1291_1289	CCDS45184.1	15																																																																																			GOLGA6L6	-	NULL	ENSG00000215405		0.552	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6L6	HGNC	protein_coding	OTTHUMT00000414660.3	9	0.00	0	TCG	NM_001145004		20740459	20740461	-1	no_errors	ENST00000427390	ensembl	human	known	69_37n	in_frame_del	9	30.77	4	DEL	0.966:0.963:0.960	-
GPR110	266977	genome.wustl.edu	37	6	46975029	46975029	+	Silent	SNP	T	T	C			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr6:46975029T>C	ENST00000371253.2	-	12	2708	c.2493A>G	c.(2491-2493)ggA>ggG	p.G831G	GPR110_ENST00000283297.5_Silent_p.G634G|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	831					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGATAAAAAATCCCTTTAAAA	0.333																																						dbGAP											0													46.0	47.0	46.0					6																	46975029		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2493A>G	6.37:g.46975029T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.G831	ENST00000371253.2	37	c.2493	CCDS34471.1	6																																																																																			GPR110	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000153292		0.333	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	38	0.00	0	T	NM_153840		46975029	46975029	-1	no_errors	ENST00000371253	ensembl	human	known	69_37n	silent	23	31.43	11	SNP	0.002	C
GPR111	222611	genome.wustl.edu	37	6	47646834	47646834	+	Missense_Mutation	SNP	C	C	G			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr6:47646834C>G	ENST00000296862.1	+	4	435	c.435C>G	c.(433-435)gaC>gaG	p.D145E	GPR111_ENST00000398742.2_Missense_Mutation_p.D77E|GPR111_ENST00000507065.1_Missense_Mutation_p.D77E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	145					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AGATCACTGACACCTGCCAGA	0.453																																						dbGAP											0													132.0	126.0	128.0					6																	47646834		1998	4176	6174	-	-	-	SO:0001583	missense	0			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.435C>G	6.37:g.47646834C>G	ENSP00000296862:p.Asp145Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.D145E	ENST00000296862.1	37	c.435		6	.	.	.	.	.	.	.	.	.	.	C	0.224	-1.026284	0.02045	.	.	ENSG00000164393	ENST00000507065;ENST00000296862;ENST00000398742	T;T;T	0.30448	2.31;2.2;1.53	4.69	-9.39	0.00619	.	0.321128	0.22998	N	0.053118	T	0.01353	0.0044	N	0.03608	-0.345	0.19945	N	0.999947	B;B	0.10296	0.001;0.003	B;B	0.12837	0.008;0.005	T	0.33085	-0.9882	10	0.02654	T	1	.	0.7037	0.00912	0.2424:0.3038:0.2194:0.2343	.	77;145	Q8IZF7-2;Q8IZF7	.;GP111_HUMAN	E	77;145;77	ENSP00000422934:D77E;ENSP00000296862:D145E;ENSP00000381727:D77E	ENSP00000296862:D145E	D	+	3	2	GPR111	47754793	0.369000	0.25039	0.336000	0.25522	0.347000	0.29111	-1.167000	0.03126	-1.940000	0.01043	-0.322000	0.08575	GAC	GPR111	-	NULL	ENSG00000164393		0.453	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	67	0.00	0	C	NM_153839		47646834	47646834	+1	no_errors	ENST00000296862	ensembl	human	known	69_37n	missense	45	34.78	24	SNP	0.740	G
GREB1L	80000	genome.wustl.edu	37	18	19031101	19031101	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr18:19031101C>T	ENST00000580732.2	+	13	2219	c.1838C>T	c.(1837-1839)aCc>aTc	p.T613I	GREB1L_ENST00000431264.1_Missense_Mutation_p.T613I|GREB1L_ENST00000424526.1_Missense_Mutation_p.T613I|SNORD23_ENST00000408212.1_RNA|RP11-296E23.1_ENST00000584611.1_RNA|GREB1L_ENST00000269218.6_Missense_Mutation_p.T504I|GREB1L_ENST00000400483.4_Missense_Mutation_p.T613I|GREB1L_ENST00000578368.1_3'UTR			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	613						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						CATTTCAAAACCACATCATTA	0.418																																						dbGAP											0													68.0	62.0	64.0					18																	19031101		692	1591	2283	-	-	-	SO:0001583	missense	0			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.1838C>T	18.37:g.19031101C>T	ENSP00000464162:p.Thr613Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.T613I	ENST00000580732.2	37	c.1838	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	C	17.97	3.517960	0.64634	.	.	ENSG00000141449	ENST00000424526;ENST00000269218;ENST00000400483;ENST00000431264	T;T;T;T	0.15487	3.18;3.13;2.42;2.42	5.88	4.93	0.64822	.	.	.	.	.	T	0.16896	0.0406	L	0.39898	1.24	0.33138	D	0.543956	P;P;P	0.46220	0.874;0.731;0.731	P;P;B	0.44359	0.447;0.447;0.241	T	0.23084	-1.0198	9	0.66056	D	0.02	-15.9878	7.48	0.27400	0.4373:0.4584:0.1043:0.0	.	504;613;613	Q9C091-3;Q9C091;Q9C091-2	.;GRB1L_HUMAN;.	I	613;504;613;613	ENSP00000412060:T613I;ENSP00000269218:T504I;ENSP00000383331:T613I;ENSP00000393125:T613I	ENSP00000269218:T504I	T	+	2	0	GREB1L	17285099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.607000	0.46300	1.415000	0.47037	0.655000	0.94253	ACC	GREB1L	-	NULL	ENSG00000141449		0.418	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	39	0.00	0	C	NM_024935		19031101	19031101	+1	no_errors	ENST00000424526	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	1.000	T
GRIN3A	116443	genome.wustl.edu	37	9	104433299	104433299	+	Silent	SNP	G	G	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr9:104433299G>A	ENST00000361820.3	-	3	1995	c.1395C>T	c.(1393-1395)atC>atT	p.I465I		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	465					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GAAGATTCCAGATGAAAAAGT	0.493																																						dbGAP											0													152.0	154.0	154.0					9																	104433299		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1395C>T	9.37:g.104433299G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.I465	ENST00000361820.3	37	c.1395	CCDS6758.1	9																																																																																			GRIN3A	-	NULL	ENSG00000198785		0.493	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	41	0.00	0	G			104433299	104433299	-1	no_errors	ENST00000361820	ensembl	human	known	69_37n	silent	39	29.09	16	SNP	1.000	A
HERC6	55008	genome.wustl.edu	37	4	89363548	89363548	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr4:89363548A>G	ENST00000264346.7	+	23	3064	c.3005A>G	c.(3004-3006)gAa>gGa	p.E1002G	HERC6_ENST00000380265.5_Missense_Mutation_p.E966G	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	1002	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		AGAATGGAGGAAGCACTTCAA	0.438																																						dbGAP											0													80.0	79.0	80.0					4																	89363548		2048	4236	6284	-	-	-	SO:0001583	missense	0			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.3005A>G	4.37:g.89363548A>G	ENSP00000264346:p.Glu1002Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E1002G	ENST00000264346.7	37	c.3005	CCDS47098.1	4	.	.	.	.	.	.	.	.	.	.	A	20.2	3.942140	0.73672	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.53206	0.63;0.63	4.69	4.69	0.59074	HECT (4);	0.114571	0.39475	N	0.001350	T	0.64405	0.2595	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.66847	0.913;0.947	T	0.67860	-0.5561	10	0.62326	D	0.03	.	13.5507	0.61730	1.0:0.0:0.0:0.0	.	966;1002	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	G	966;1002	ENSP00000369617:E966G;ENSP00000264346:E1002G	ENSP00000264346:E1002G	E	+	2	0	HERC6	89582571	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.864000	0.56024	2.093000	0.63338	0.482000	0.46254	GAA	HERC6	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000138642		0.438	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HERC6	HGNC	protein_coding	OTTHUMT00000363259.2	38	0.00	0	A			89363548	89363548	+1	no_errors	ENST00000264346	ensembl	human	known	69_37n	missense	29	42.00	21	SNP	1.000	G
HIVEP1	3096	genome.wustl.edu	37	6	12131113	12131113	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr6:12131113G>A	ENST00000379388.2	+	6	6655	c.6323G>A	c.(6322-6324)cGa>cAa	p.R2108Q	HIVEP1_ENST00000541134.1_Missense_Mutation_p.R7Q	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2108					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AAACACATACGAACCCATACA	0.403																																						dbGAP											0													204.0	192.0	196.0					6																	12131113		1941	4143	6084	-	-	-	SO:0001583	missense	0			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.6323G>A	6.37:g.12131113G>A	ENSP00000368698:p.Arg2108Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R2108Q	ENST00000379388.2	37	c.6323	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	37	6.006472	0.97195	.	.	ENSG00000095951	ENST00000379388;ENST00000541134;ENST00000542327	T;T	0.24723	1.84;1.84	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30142	N	0.010317	T	0.47395	0.1443	M	0.66378	2.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.37197	-0.9716	10	0.87932	D	0	-19.8863	20.8794	0.99867	0.0:0.0:1.0:0.0	.	2108	P15822	ZEP1_HUMAN	Q	2108;7;90	ENSP00000368698:R2108Q;ENSP00000445617:R7Q	ENSP00000368698:R2108Q	R	+	2	0	HIVEP1	12239099	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGA	HIVEP1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000095951		0.403	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	83	0.00	0	G	NM_002114		12131113	12131113	+1	no_errors	ENST00000379388	ensembl	human	known	69_37n	missense	74	20.43	19	SNP	1.000	A
HOOK3	84376	genome.wustl.edu	37	8	42798513	42798513	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr8:42798513C>A	ENST00000307602.4	+	5	525	c.325C>A	c.(325-327)Cat>Aat	p.H109N		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	109	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TATTGGGGAGCATTCTGATGC	0.378			T	RET	papillary thyroid																																	dbGAP		Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													105.0	99.0	101.0					8																	42798513		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.325C>A	8.37:g.42798513C>A	ENSP00000305699:p.His109Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	pfam_HOOK,superfamily_t-SNARE	p.H109N	ENST00000307602.4	37	c.325	CCDS6139.1	8	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414605	0.42817	.	.	ENSG00000168172	ENST00000307602	T	0.37584	1.19	5.67	4.74	0.60224	.	0.100881	0.64402	D	0.000002	T	0.24586	0.0596	N	0.21324	0.655	0.49687	D	0.999818	B;B	0.19445	0.028;0.036	B;B	0.28465	0.09;0.063	T	0.03684	-1.1013	10	0.05525	T	0.97	-23.4801	15.4926	0.75619	0.139:0.861:0.0:0.0	.	109;109	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	N	109	ENSP00000305699:H109N	ENSP00000305699:H109N	H	+	1	0	HOOK3	42917670	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.389000	0.59639	2.690000	0.91761	0.644000	0.83932	CAT	HOOK3	-	pfam_HOOK	ENSG00000168172		0.378	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2	69	0.00	0	C	NM_032410		42798513	42798513	+1	no_errors	ENST00000307602	ensembl	human	known	69_37n	missense	92	20.69	24	SNP	1.000	A
HSPA8	3312	genome.wustl.edu	37	11	122930239	122930241	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	GAA	GAA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr11:122930239_122930241delGAA	ENST00000532636.1	-	5	1179_1181	c.1060_1062delTTC	c.(1060-1062)ttcdel	p.F354del	HSPA8_ENST00000526110.1_In_Frame_Del_p.F335del|HSPA8_ENST00000534319.1_In_Frame_Del_p.F118del|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000453788.2_In_Frame_Del_p.F354del|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_In_Frame_Del_p.F354del|HSPA8_ENST00000533540.1_In_Frame_Del_p.F208del|HSPA8_ENST00000534624.1_In_Frame_Del_p.F354del|SNORD14C_ENST00000365382.1_RNA|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	354	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTTTCCATTGAAGAAGTCTTGG	0.443																																					Colon(21;486 594 5900 6733 14272)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1060_1062delTTC	11.37:g.122930242_122930244delGAA	ENSP00000437125:p.Phe354del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3R6	In_Frame_Del	DEL	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.F354in_frame_del	ENST00000532636.1	37	c.1062_1060	CCDS8440.1	11																																																																																			HSPA8	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000109971		0.443	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	29	0.00	0	GAA			122930239	122930241	-1	no_errors	ENST00000534624	ensembl	human	known	69_37n	in_frame_del	12	45.45	10	DEL	1.000:1.000:1.000	-
ITPR1	3708	genome.wustl.edu	37	3	4730264	4730264	+	Missense_Mutation	SNP	C	C	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr3:4730264C>A	ENST00000443694.2	+	28	3743	c.3743C>A	c.(3742-3744)gCt>gAt	p.A1248D	ITPR1_ENST00000302640.8_Missense_Mutation_p.A1248D|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1254D|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1254D|ITPR1_ENST00000456211.2_Missense_Mutation_p.A1239D|ITPR1_ENST00000354582.6_Missense_Mutation_p.A1263D			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1263					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	CAGAATCAAGCTTTGCTACAT	0.478																																						dbGAP											0													88.0	86.0	87.0					3																	4730264		1896	4121	6017	-	-	-	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3743C>A	3.37:g.4730264C>A	ENSP00000401671:p.Ala1248Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.A1248D	ENST00000443694.2	37	c.3743	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054647	0.75960	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	T;T;T;T;T;T	0.62364	0.03;0.03;0.03;0.03;0.03;0.03	5.39	5.39	0.77823	Intracellular calcium-release channel (1);	0.159222	0.53938	D	0.000041	T	0.67107	0.2858	M	0.64404	1.975	0.80722	D	1	P;P	0.40619	0.724;0.682	P;B	0.46299	0.511;0.444	T	0.61997	-0.6947	10	0.15952	T	0.53	.	19.1808	0.93622	0.0:1.0:0.0:0.0	.	1263;1254	Q14643;G5E9P1	ITPR1_HUMAN;.	D	1263;1248;1263;1254;1254;1239;1248	ENSP00000306253:A1248D;ENSP00000346595:A1263D;ENSP00000405934:A1254D;ENSP00000349597:A1254D;ENSP00000397885:A1239D;ENSP00000401671:A1248D	ENSP00000306253:A1248D	A	+	2	0	ITPR1	4705264	1.000000	0.71417	0.926000	0.36857	0.994000	0.84299	4.799000	0.62517	2.518000	0.84900	0.655000	0.94253	GCT	ITPR1	-	pfam_Ca-rel_channel	ENSG00000150995		0.478	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	44	0.00	0	C	NM_002222		4730264	4730264	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	missense	37	43.94	29	SNP	0.992	A
LRRTM3	347731	genome.wustl.edu	37	10	68686978	68686978	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr10:68686978G>A	ENST00000361320.4	+	2	882	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	102					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						CAATATTGACGAAAATGCTTT	0.358																																						dbGAP											0													99.0	103.0	102.0					10																	68686978		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.304G>A	10.37:g.68686978G>A	ENSP00000355187:p.Glu102Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E102K	ENST00000361320.4	37	c.304	CCDS7270.1	10	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591590	0.28357	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.04454	3.62	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000004	T	0.05273	0.0140	L	0.34521	1.04	0.54753	D	0.999988	B;B	0.33171	0.4;0.348	B;B	0.30855	0.121;0.066	T	0.51957	-0.8639	10	0.17369	T	0.5	.	18.0114	0.89225	0.0:0.0:1.0:0.0	.	102;102	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	K	102	ENSP00000355187:E102K	ENSP00000355187:E102K	E	+	1	0	LRRTM3	68356984	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.682000	0.84083	2.543000	0.85770	0.655000	0.94253	GAA	LRRTM3	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000198739		0.358	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRTM3	HGNC	protein_coding	OTTHUMT00000048277.2	28	0.00	0	G	NM_178011		68686978	68686978	+1	no_errors	ENST00000361320	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	A
MAP2K4	6416	genome.wustl.edu	37	17	12032459	12032459	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr17:12032459G>T	ENST00000353533.5	+	9	958	c.895G>T	c.(895-897)Gag>Tag	p.E299*	MAP2K4_ENST00000415385.3_Nonsense_Mutation_p.E310*	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	299	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TCTTTAGTATGAGTTGGCCAC	0.413			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	11	Whole gene deletion(10)|Unknown(1)	ovary(4)|breast(4)|biliary_tract(1)|lung(1)|pancreas(1)											56.0	51.0	52.0					17																	12032459		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.895G>T	17.37:g.12032459G>T	ENSP00000262445:p.Glu299*	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E310*	ENST00000353533.5	37	c.928	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.771185	0.96922	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8069	0.88604	0.0:0.0:1.0:0.0	.	.	.	.	X	299;310;276;171	.	ENSP00000262445:E299X	E	+	1	0	MAP2K4	11973184	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.586000	0.98226	2.805000	0.96524	0.655000	0.94253	GAG	MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.413	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	38	0.00	0	G			12032459	12032459	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	nonsense	9	52.63	10	SNP	1.000	T
MIER1	57708	genome.wustl.edu	37	1	67424667	67424668	+	Splice_Site	INS	-	-	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr1:67424667_67424668insT	ENST00000355356.3	+	5	624		c.e5+1		MIER1_ENST00000357692.2_Splice_Site|MIER1_ENST00000479067.1_Splice_Site|MIER1_ENST00000371018.3_Splice_Site|MIER1_ENST00000401042.3_Splice_Site|MIER1_ENST00000355977.6_Splice_Site|MIER1_ENST00000371016.1_Splice_Site|MIER1_ENST00000401041.1_Splice_Site|MIER1_ENST00000371014.1_Splice_Site	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator						positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TTTGATACAAGTAAGTGTTACT	0.322																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.475+1->T	1.37:g.67424668_67424668dupT		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Splice_Site	INS	-	e6+1	ENST00000355356.3	37	c.634+1_634+1	CCDS41348.1	1																																																																																			MIER1	-	-	ENSG00000198160		0.322	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	56	0.00	0	-	NM_020948	Intron	67424667	67424668	+1	no_errors	ENST00000401041	ensembl	human	known	69_37n	splice_site_ins	36	26.53	13	INS	1.000:1.000	T
MORN1	79906	genome.wustl.edu	37	1	2304001	2304001	+	Missense_Mutation	SNP	G	G	C			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr1:2304001G>C	ENST00000378531.3	-	8	837	c.664C>G	c.(664-666)Ccg>Gcg	p.P222A	RP4-740C4.9_ENST00000606642.1_RNA|MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.P222A	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	222										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		ATCACCTCCGGACCCAAGATC	0.592																																						dbGAP											0													120.0	96.0	104.0					1																	2304001		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024003	CCDS40.1, CCDS72688.1	1p36.33-p36.32	2008-02-05			ENSG00000116151	ENSG00000116151			25852	protein-coding gene	gene with protein product						12477932	Standard	XM_005244798		Approved	FLJ13941	uc001ajb.1	Q5T089	OTTHUMG00000001402	ENST00000378531.3:c.664C>G	1.37:g.2304001G>C	ENSP00000367792:p.Pro222Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKZ6|Q8WW30|Q9H852	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.P222A	ENST00000378531.3	37	c.664	CCDS40.1	1	.	.	.	.	.	.	.	.	.	.	G	13.72	2.320393	0.41096	.	.	ENSG00000116151	ENST00000378531;ENST00000378529;ENST00000419785;ENST00000378527	T;T	0.52983	0.9;0.64	4.87	4.87	0.63330	.	0.210255	0.33631	N	0.004712	T	0.60728	0.2291	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.997;0.979	D;P	0.66196	0.942;0.628	T	0.57429	-0.7813	10	0.08179	T	0.78	.	13.4392	0.61104	0.0:0.0:1.0:0.0	.	222;222	Q5T089-2;Q5T089	.;MORN1_HUMAN	A	222;222;91;91	ENSP00000367792:P222A;ENSP00000367790:P222A	ENSP00000367788:P91A	P	-	1	0	MORN1	2293861	0.983000	0.35010	0.536000	0.28039	0.161000	0.22273	4.589000	0.61006	2.526000	0.85167	0.555000	0.69702	CCG	MORN1	-	NULL	ENSG00000116151		0.592	MORN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MORN1	HGNC	protein_coding	OTTHUMT00000004055.1	30	0.00	0	G	NM_024848		2304001	2304001	-1	no_errors	ENST00000378531	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.839	C
MUC20	200958	genome.wustl.edu	37	3	195452668	195452668	+	Silent	SNP	C	C	G	rs201581458	byFrequency	TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr3:195452668C>G	ENST00000447234.2	+	2	1320	c.1194C>G	c.(1192-1194)ccC>ccG	p.P398P	MUC20_ENST00000445522.2_Silent_p.P363P|MUC20_ENST00000436408.1_Silent_p.P398P|MUC20_ENST00000320736.6_Silent_p.P227P	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	398	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCATCACCCCCTCATGGTCCC	0.582													a|||	1176	0.234824	0.2731	0.2233	5008	,	,		23539	0.3294		0.1988	False		,,,				2504	0.1309					dbGAP											0													4.0	3.0	3.0					3																	195452668		1613	3526	5139	-	-	-	SO:0001819	synonymous_variant	0			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1194C>G	3.37:g.195452668C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	NULL	p.P398	ENST00000447234.2	37	c.1194		3																																																																																			MUC20	-	NULL	ENSG00000176945		0.582	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	MUC20	HGNC	protein_coding	OTTHUMT00000341835.1	28	0.00	0	C	NM_152673		195452668	195452668	+1	no_errors	ENST00000447234	ensembl	human	known	69_37n	silent	20	23.08	6	SNP	0.004	G
NOS2	4843	genome.wustl.edu	37	17	26116644	26116644	+	Missense_Mutation	SNP	C	C	T	rs201165915	byFrequency	TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr17:26116644C>T	ENST00000313735.6	-	3	414	c.181G>A	c.(181-183)Gtg>Atg	p.V61M		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	61					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CCCGTCTCCACGAGGGGCTGC	0.562													C|||	2	0.000399361	0.0015	0.0	5008	,	,		21026	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													175.0	151.0	159.0					17																	26116644		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.181G>A	17.37:g.26116644C>T	ENSP00000327251:p.Val61Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.V61M	ENST00000313735.6	37	c.181	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	C	9.841	1.191052	0.21954	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.01745	4.66	5.12	-10.2	0.00374	.	1.423190	0.04439	N	0.370536	T	0.01320	0.0043	L	0.34521	1.04	0.09310	N	1	B;B	0.22146	0.065;0.021	B;B	0.18263	0.021;0.006	T	0.45234	-0.9275	10	0.42905	T	0.14	.	3.8189	0.08827	0.0989:0.3746:0.3006:0.2259	.	61;61	F8WEM3;P35228	.;NOS2_HUMAN	M	61	ENSP00000327251:V61M	ENSP00000305638:V61M	V	-	1	0	NOS2	23140771	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-1.102000	0.03332	-1.460000	0.01911	-0.455000	0.05494	GTG	NOS2	-	pirsf_NOS_met	ENSG00000007171		0.562	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	HGNC	protein_coding	OTTHUMT00000255597.1	44	0.00	0	C	NM_000625		26116644	26116644	-1	no_errors	ENST00000313735	ensembl	human	known	69_37n	missense	52	43.48	40	SNP	0.000	T
OBSCN	84033	genome.wustl.edu	37	1	228480325	228480325	+	Missense_Mutation	SNP	T	T	C			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr1:228480325T>C	ENST00000422127.1	+	40	10749	c.10705T>C	c.(10705-10707)Tgg>Cgg	p.W3569R	OBSCN_ENST00000366709.4_Missense_Mutation_p.W688R|OBSCN_ENST00000284548.11_Missense_Mutation_p.W3569R|OBSCN_ENST00000366707.4_Missense_Mutation_p.W688R|OBSCN_ENST00000570156.2_Missense_Mutation_p.W3998R|OBSCN_ENST00000359599.6_Missense_Mutation_p.W2416R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3569	Ig-like 36.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGTGGAGTGGAGAAAGGG	0.567																																						dbGAP											0													116.0	115.0	116.0					1																	228480325		2020	4193	6213	-	-	-	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10705T>C	1.37:g.228480325T>C	ENSP00000409493:p.Trp3569Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.W3569R	ENST00000422127.1	37	c.10705	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.755060	0.89843	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04	5.31	5.31	0.75309	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.98975	0.9651	H	0.98996	4.395	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99215	1.0877	10	0.87932	D	0	.	15.2694	0.73689	0.0:0.0:0.0:1.0	.	3569;3569	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	3569;3569;688;688;2416	ENSP00000284548:W3569R;ENSP00000409493:W3569R;ENSP00000355668:W688R;ENSP00000355670:W688R;ENSP00000352613:W2416R	ENSP00000284548:W3569R	W	+	1	0	OBSCN	226546948	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	6.210000	0.72176	2.007000	0.58848	0.418000	0.28097	TGG	OBSCN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000154358		0.567	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		52	0.00	0	T	NM_052843		228480325	228480325	+1	no_errors	ENST00000422127	ensembl	human	known	69_37n	missense	53	18.46	12	SNP	1.000	C
PGAP1	80055	genome.wustl.edu	37	2	197707454	197707454	+	Missense_Mutation	SNP	A	A	G			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr2:197707454A>G	ENST00000354764.4	-	26	2735	c.2621T>C	c.(2620-2622)aTa>aCa	p.I874T		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	874					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CCTTGATTTTATTGAAACAGT	0.279																																						dbGAP											0													62.0	72.0	69.0					2																	197707454		2203	4290	6493	-	-	-	SO:0001583	missense	0				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.2621T>C	2.37:g.197707454A>G	ENSP00000346809:p.Ile874Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.I874T	ENST00000354764.4	37	c.2621	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	A	13.53	2.266185	0.40095	.	.	ENSG00000197121	ENST00000354764	.	.	.	5.14	5.14	0.70334	.	0.262866	0.38548	N	0.001660	T	0.39517	0.1081	N	0.19112	0.55	0.80722	D	1	B	0.15473	0.013	B	0.18561	0.022	T	0.24297	-1.0164	9	0.10902	T	0.67	-7.8938	12.2815	0.54767	0.8589:0.1411:0.0:0.0	.	874	Q75T13	PGAP1_HUMAN	T	874	.	ENSP00000346809:I874T	I	-	2	0	PGAP1	197415699	0.997000	0.39634	0.998000	0.56505	0.966000	0.64601	4.211000	0.58507	2.158000	0.67659	0.482000	0.46254	ATA	PGAP1	-	NULL	ENSG00000197121		0.279	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	60	0.00	0	A	NM_024989		197707454	197707454	-1	no_errors	ENST00000354764	ensembl	human	known	69_37n	missense	18	53.85	21	SNP	0.993	G
PREX2	80243	genome.wustl.edu	37	8	68965476	68965476	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr8:68965476G>A	ENST00000288368.4	+	9	1365	c.1088G>A	c.(1087-1089)cGg>cAg	p.R363Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	363					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.R363Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAGAACGGCGGAAAGGTGGG	0.373																																						dbGAP											2	Substitution - Missense(2)	lung(2)											107.0	104.0	105.0					8																	68965476		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1088G>A	8.37:g.68965476G>A	ENSP00000288368:p.Arg363Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R363Q	ENST00000288368.4	37	c.1088	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.643888	0.96704	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.61040	0.14	5.74	5.74	0.90152	Pleckstrin homology domain (1);	0.000000	0.85682	D	0.000000	T	0.74114	0.3674	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.74197	-0.3743	10	0.62326	D	0.03	.	19.9189	0.97077	0.0:0.0:1.0:0.0	.	363;363;363	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Q	363	ENSP00000288368:R363Q	ENSP00000288368:R363Q	R	+	2	0	PREX2	69128030	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.707000	0.92482	0.655000	0.94253	CGG	PREX2	-	smart_Pleckstrin_homology	ENSG00000046889		0.373	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	44	0.00	0	G	NM_025170		68965476	68965476	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	missense	40	19.61	10	SNP	1.000	A
SDK1	221935	genome.wustl.edu	37	7	4249712	4249712	+	Silent	SNP	C	C	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr7:4249712C>T	ENST00000404826.2	+	38	5596	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N	SDK1_ENST00000389531.3_Silent_p.N1799N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1819	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCACGCTCAACGTGTCCTGGG	0.607																																						dbGAP											0													54.0	59.0	57.0					7																	4249712		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.5457C>T	7.37:g.4249712C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.N1819	ENST00000404826.2	37	c.5457	CCDS34590.1	7																																																																																			SDK1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000146555		0.607	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	25	0.00	0	C	NM_152744		4249712	4249712	+1	no_errors	ENST00000404826	ensembl	human	known	69_37n	silent	13	43.48	10	SNP	0.868	T
SLC16A14	151473	genome.wustl.edu	37	2	230910775	230910775	+	Missense_Mutation	SNP	G	G	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr2:230910775G>A	ENST00000295190.4	-	4	1525	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	356						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		TATAATTGACGTCAGAGGGAA	0.438																																						dbGAP											0													85.0	78.0	81.0					2																	230910775		2203	4300	6503	-	-	-	SO:0001583	missense	0			BN000146	CCDS2473.1	2q37.1	2013-07-18	2013-07-18		ENSG00000163053	ENSG00000163053		"""Solute carriers"""	26417	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 14"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 14"""				Standard	NM_152527		Approved	FLJ30794, MCT14	uc002vqd.2	Q7RTX9	OTTHUMG00000133205	ENST00000295190.4:c.1067C>T	2.37:g.230910775G>A	ENSP00000295190:p.Thr356Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KA08|Q53R92|Q96NI7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T356M	ENST00000295190.4	37	c.1067	CCDS2473.1	2	.	.	.	.	.	.	.	.	.	.	G	18.43	3.621720	0.66787	.	.	ENSG00000163053	ENST00000295190;ENST00000457406;ENST00000412034	T;T;T	0.56444	0.46;0.46;0.46	4.94	4.94	0.65067	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.64402	D	0.000005	T	0.57651	0.2068	N	0.19112	0.55	0.49213	D	0.999768	D;D	0.89917	0.999;1.0	D;D	0.76575	0.97;0.988	T	0.52177	-0.8610	10	0.18276	T	0.48	.	18.3719	0.90409	0.0:0.0:1.0:0.0	.	356;356	E7EMG7;Q7RTX9	.;MOT14_HUMAN	M	356	ENSP00000295190:T356M;ENSP00000400352:T356M;ENSP00000395775:T356M	ENSP00000295190:T356M	T	-	2	0	SLC16A14	230619019	1.000000	0.71417	0.955000	0.39395	0.977000	0.68977	6.265000	0.72534	2.567000	0.86603	0.561000	0.74099	ACG	SLC16A14	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000163053		0.438	SLC16A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A14	HGNC	protein_coding	OTTHUMT00000256918.2	29	0.00	0	G	NM_152527		230910775	230910775	-1	no_errors	ENST00000295190	ensembl	human	known	69_37n	missense	22	37.14	13	SNP	0.995	A
SPPL2C	162540	genome.wustl.edu	37	17	43924233	43924233	+	Missense_Mutation	SNP	C	C	T			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr17:43924233C>T	ENST00000329196.5	+	1	1978	c.1961C>T	c.(1960-1962)gCc>gTc	p.A654V	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	654						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)										CATGCCCAGGCCCAGGCCCAC	0.622																																						dbGAP											0													35.0	37.0	37.0					17																	43924233		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.1961C>T	17.37:g.43924233C>T	ENSP00000332488:p.Ala654Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC67|Q8WVZ6	Missense_Mutation	SNP	pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22	p.A654V	ENST00000329196.5	37	c.1961	CCDS32673.1	17	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063905	0.55432	.	.	ENSG00000185294	ENST00000329196	T	0.06294	3.32	4.08	4.08	0.47627	.	1.144690	0.06639	N	0.760757	T	0.07324	0.0185	N	0.24115	0.695	0.25198	N	0.990071	P	0.42908	0.793	B	0.41374	0.355	T	0.34527	-0.9825	10	0.56958	D	0.05	-31.018	12.1077	0.53821	0.0:1.0:0.0:0.0	.	654	Q8IUH8	IMP5_HUMAN	V	654	ENSP00000332488:A654V	ENSP00000332488:A654V	A	+	2	0	AC217771.1	41280013	0.102000	0.21896	0.916000	0.36221	0.051000	0.14879	1.200000	0.32247	2.553000	0.86117	0.655000	0.94253	GCC	SPPL2C	-	NULL	ENSG00000185294		0.622	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPPL2C	HGNC	protein_coding	OTTHUMT00000441156.1	16	0.00	0	C	NM_175882		43924233	43924233	+1	no_errors	ENST00000329196	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	0.967	T
SPTB	6710	genome.wustl.edu	37	14	65220359	65220359	+	Silent	SNP	G	G	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr14:65220359G>A	ENST00000556626.1	-	33	6640	c.6498C>T	c.(6496-6498)ccC>ccT	p.P2166P	SPTB_ENST00000389722.3_Silent_p.P2166P|SPTB_ENST00000342835.4_5'UTR			P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	0					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCAGCGTTGCGGGCTCATCAC	0.627																																						dbGAP											0													87.0	94.0	92.0					14																	65220359		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000556626.1:c.6498C>T	14.37:g.65220359G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15510|Q15519	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.P2166	ENST00000556626.1	37	c.6498	CCDS32099.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin	ENSG00000070182		0.627	SPTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414076.1	16	0.00	0	G			65220359	65220359	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	silent	13	38.10	8	SNP	0.000	A
SYNE1	23345	genome.wustl.edu	37	6	152861113	152861113	+	Silent	SNP	G	G	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr6:152861113G>A	ENST00000367255.5	-	4	712	c.111C>T	c.(109-111)atC>atT	p.I37I	SYNE1_ENST00000448038.1_Silent_p.I37I|SYNE1_ENST00000466159.2_Silent_p.I37I|SYNE1_ENST00000367248.3_Silent_p.I37I|SYNE1_ENST00000367253.4_Silent_p.I37I|SYNE1_ENST00000413186.2_Silent_p.I37I|SYNE1_ENST00000341594.5_Silent_p.I37I|SYNE1_ENST00000423061.1_Silent_p.I37I|SYNE1_ENST00000265368.4_Silent_p.I37I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	37	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GATGAGAGTTGATCCATTTTG	0.338										HNSCC(10;0.0054)																												dbGAP											0													259.0	249.0	252.0					6																	152861113		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.111C>T	6.37:g.152861113G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.I37	ENST00000367255.5	37	c.111	CCDS5236.2	6																																																																																			SYNE1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000131018		0.338	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	125	0.00	0	G	NM_182961		152861113	152861113	-1	no_errors	ENST00000265368	ensembl	human	known	69_37n	silent	76	37.70	46	SNP	1.000	A
THPO	7066	genome.wustl.edu	37	3	184091243	184091243	+	Frame_Shift_Del	DEL	C	C	-	rs143216798	byFrequency	TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr3:184091243delC	ENST00000204615.7	-	5	570	c.356delG	c.(355-357)cgtfs	p.R119fs	THPO_ENST00000477594.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Frame_Shift_Del_p.R119fs|THPO_ENST00000421442.2_Frame_Shift_Del_p.R119fs	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	119					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|myeloid cell differentiation (GO:0030099)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|thrombopoietin-mediated signaling pathway (GO:0038163)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAGGAGGAGACGGACCTGTCC	0.587																																						dbGAP											0													75.0	68.0	70.0					3																	184091243		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS3265.1, CCDS54693.1	3q27	2014-01-30	2008-07-31		ENSG00000090534	ENSG00000090534		"""Endogenous ligands"""	11795	protein-coding gene	gene with protein product	"""prepro-thrombopoietin"", ""megakaryocyte stimulating factor"", ""myeloproliferative leukemia virus oncogene ligand"", ""megakaryocyte growth and development factor"", ""MPL ligand"", ""megakaryocyte colony-stimulating factor"", ""c-mpl ligand"", ""thrombopoietin nirs variant 1"""	600044		MGDF		8202154	Standard	XM_006713738		Approved	TPO, MPLLG	uc003fol.1	P40225	OTTHUMG00000156745	ENST00000204615.7:c.356delG	3.37:g.184091243delC	ENSP00000204615:p.Arg119fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3Y0|B7ZLR8|B9EGA8|Q13020|Q15790|Q15791|Q15792	Frame_Shift_Del	DEL	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	p.R119fs	ENST00000204615.7	37	c.356	CCDS3265.1	3																																																																																			THPO	-	pfam_EPO_TPO,superfamily_4_helix_cytokine-like_core,prints_Thrombopoeitin	ENSG00000090534		0.587	THPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THPO	HGNC	protein_coding	OTTHUMT00000345554.1	33	0.00	0	C	NM_000460		184091243	184091243	-1	no_errors	ENST00000204615	ensembl	human	known	69_37n	frame_shift_del	24	41.30	19	DEL	1.000	-
UMPS	7372	genome.wustl.edu	37	3	124457125	124457125	+	Intron	SNP	C	C	A			TCGA-E2-A1IG-01A-11D-A142-09	TCGA-E2-A1IG-10A-01D-A142-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	84da47a3-49e1-4f94-bea9-dd20b6627adb	9859da9f-72c1-4f68-a054-4d103170d785	g.chr3:124457125C>A	ENST00000232607.2	+	3	1088				UMPS_ENST00000536109.1_Intron|UMPS_ENST00000498715.1_3'UTR|UMPS_ENST00000413078.2_Intron|UMPS_ENST00000538242.1_Intron	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase						'de novo' pyrimidine nucleobase biosynthetic process (GO:0006207)|'de novo' UMP biosynthetic process (GO:0044205)|cellular response to drug (GO:0035690)|female pregnancy (GO:0007565)|lactation (GO:0007595)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside biosynthetic process (GO:0046134)|small molecule metabolic process (GO:0044281)|UMP biosynthetic process (GO:0006222)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	orotate phosphoribosyltransferase activity (GO:0004588)|orotidine-5'-phosphate decarboxylase activity (GO:0004590)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)	Fluorouracil(DB00544)	aatcagaaatccagcttaaac	0.393																																						dbGAP											0													19.0	19.0	19.0					3																	124457125		2034	4203	6237	-	-	-	SO:0001627	intron_variant	0				CCDS3029.1	3q13	2008-02-04	2008-02-04		ENSG00000114491	ENSG00000114491	2.4.2.10, 4.1.1.23		12563	protein-coding gene	gene with protein product	"""orotate phosphoribosyl transferase and orotidine-5'-decarboxylase"""	613891				2767686	Standard	NM_000373		Approved		uc003ehl.4	P11172	OTTHUMG00000159431	ENST00000232607.2:c.982+39C>A	3.37:g.124457125C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B5LY68|B5LY72|O00758|O00759|O00760|Q16862|Q9H3Q2|Q9UG49	Missense_Mutation	SNP	pfam_OMPdeCOase_dom,pfam_PRibTrfase,superfamily_RibuloseP-bd_barrel,tigrfam_Or_phspho_trans_clade-1	p.P341T	ENST00000232607.2	37	c.1021	CCDS3029.1	3																																																																																			UMPS	-	NULL	ENSG00000114491		0.393	UMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UMPS	HGNC	protein_coding	OTTHUMT00000355271.1	19	0.00	0	C	NM_000373		124457125	124457125	+1	no_errors	ENST00000479719	ensembl	human	known	69_37n	missense	9	47.06	8	SNP	0.008	A
