#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
ACIN1	22985	genome.wustl.edu	37	14	23548943	23548943	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr14:23548943C>A	ENST00000262710.1	-	6	2102	c.1775G>T	c.(1774-1776)aGa>aTa	p.R592I	ACIN1_ENST00000457657.1_Missense_Mutation_p.R552I|ACIN1_ENST00000555053.1_Missense_Mutation_p.R592I|ACIN1_ENST00000605057.1_Missense_Mutation_p.R534I|ACIN1_ENST00000555352.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	592	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		AGAGCGAGATCTTGATCTAGA	0.522																																						dbGAP											0													214.0	198.0	203.0					14																	23548943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1775G>T	14.37:g.23548943C>A	ENSP00000262710:p.Arg592Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R592I	ENST00000262710.1	37	c.1775	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	C	20.8	4.042810	0.75732	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.29397	2.33;1.57;2.33	5.42	5.42	0.78866	.	0.000000	0.43919	D	0.000505	T	0.41926	0.1180	L	0.27053	0.805	0.80722	D	1	D;D;D	0.71674	0.998;0.996;0.996	D;D;D	0.76575	0.988;0.974;0.974	T	0.12760	-1.0535	10	0.44086	T	0.13	-11.3857	14.5948	0.68397	0.0:1.0:0.0:0.0	.	592;592;552	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	I	592;552;592	ENSP00000262710:R592I;ENSP00000405677:R552I;ENSP00000451328:R592I	ENSP00000262710:R592I	R	-	2	0	ACIN1	22618783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.347000	0.52200	2.821000	0.97095	0.650000	0.86243	AGA	ACIN1	-	NULL	ENSG00000100813		0.522	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	95	0.00	0	C	NM_014977		23548943	23548943	-1	no_errors	ENST00000262710	ensembl	human	known	69_37n	missense	132	20.48	34	SNP	1.000	A
AFG3L1P	172	genome.wustl.edu	37	16	90048301	90048301	+	RNA	SNP	C	C	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr16:90048301C>A	ENST00000437774.1	+	0	632					NR_003226.1				AFG3-like AAA ATPase 1, pseudogene																		CGTGGAAGCACTTTGTACAGT	0.517																																						dbGAP											0													143.0	128.0	133.0					16																	90048301		692	1591	2283	-	-	-			0			AJ001495		16q24.3	2013-10-17	2013-10-17	2010-10-28	ENSG00000223959	ENSG00000223959		"""ATPases / AAA-type"""	314	pseudogene	pseudogene		603020	"""AFG3 ATPase family gene 3-like 1 (S. cerevisiae), pseudogene"", ""AFG3 ATPase family member 3-like 1 (S. cerevisiae), pseudogene"""	AFG3, AFG3L1		9545647, 11549317	Standard	NR_003228		Approved		uc002fpz.1		OTTHUMG00000138987		16.37:g.90048301C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000437774.1	37	NULL		16																																																																																			AFG3L1P	-	-	ENSG00000223959		0.517	AFG3L1P-004	KNOWN	basic	processed_transcript	AFG3L1P	HGNC	pseudogene	OTTHUMT00000316791.1	77	0.00	0	C	NR_003226		90048301	90048301	+1	no_errors	ENST00000388970	ensembl	human	known	69_37n	rna	42	27.59	16	SNP	0.980	A
ARHGAP4	393	genome.wustl.edu	37	X	153174974	153174974	+	Silent	SNP	C	C	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chrX:153174974C>A	ENST00000350060.5	-	20	2471	c.2430G>T	c.(2428-2430)gtG>gtT	p.V810V	ARHGAP4_ENST00000370016.1_Silent_p.V789V|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Silent_p.V787V|ARHGAP4_ENST00000393721.1_Silent_p.V632V|ARHGAP4_ENST00000370028.3_Silent_p.V850V	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	810					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGCGCCCACCACCTGCTTCT	0.692																																						dbGAP											0													27.0	26.0	27.0					X																	153174974		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2430G>T	X.37:g.153174974C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14144|Q86UY3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.W232L	ENST00000350060.5	37	c.695	CCDS14736.1	X	.	.	.	.	.	.	.	.	.	.	C	3.675	-0.066761	0.07273	.	.	ENSG00000089820	ENST00000454164	.	.	.	3.35	-6.71	0.01760	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15983	-1.0418	4	.	.	.	.	1.1482	0.01780	0.4468:0.1433:0.2252:0.1847	.	.	.	.	L	232	.	.	W	-	2	0	ARHGAP4	152828168	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-3.058000	0.00624	-2.488000	0.00518	-0.351000	0.07748	TGG	ARHGAP4	-	superfamily_SH3_domain	ENSG00000089820		0.692	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	11	0.00	0	C	NM_001666		153174974	153174974	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000454164	ensembl	human	novel	69_37n	missense	9	35.71	5	SNP	0.000	A
ATF6	22926	genome.wustl.edu	37	1	161821536	161821537	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr1:161821536_161821537insA	ENST00000367942.3	+	11	1411_1412	c.1344_1345insA	c.(1345-1347)aaafs	p.K449fs	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	449					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TTTCAAATGACAAAGCCCTGAT	0.371																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.1347dupA	1.37:g.161821539_161821539dupA	ENSP00000356919:p.Lys449fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15139|Q5VW62|Q6IPB5|Q9UEC9	Frame_Shift_Ins	INS	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.A449fs	ENST00000367942.3	37	c.1344_1345	CCDS1235.1	1																																																																																			ATF6	-	NULL	ENSG00000118217		0.371	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF6	HGNC	protein_coding	OTTHUMT00000060304.2	67	0.00	0	-	NM_007348		161821536	161821537	+1	no_errors	ENST00000367942	ensembl	human	known	69_37n	frame_shift_ins	85	33.07	42	INS	1.000:1.000	A
C12orf42	374470	genome.wustl.edu	37	12	103700001	103700001	+	Missense_Mutation	SNP	G	G	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr12:103700001G>T	ENST00000378113.2	-	5	607	c.382C>A	c.(382-384)Cgt>Agt	p.R128S	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548883.1_Missense_Mutation_p.R128S|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548048.1_Missense_Mutation_p.R61S	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	128								p.R128C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						GGAGAGGAACGGAATTCTTCA	0.468																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											82.0	83.0	83.0					12																	103700001		1853	4095	5948	-	-	-	SO:0001583	missense	0			AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.382C>A	12.37:g.103700001G>T	ENSP00000367353:p.Arg128Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49A64|Q4G0S2	Missense_Mutation	SNP	NULL	p.R128S	ENST00000378113.2	37	c.382	CCDS44963.1	12	.	.	.	.	.	.	.	.	.	.	G	6.667	0.491589	0.12702	.	.	ENSG00000179088	ENST00000548883;ENST00000548048;ENST00000378113;ENST00000552578	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.34	-4.98	0.03019	.	2.752080	0.01310	N	0.010595	T	0.19725	0.0474	N	0.14661	0.345	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.06481	-1.0824	10	0.16896	T	0.51	2.5403	0.9617	0.01397	0.2166:0.215:0.351:0.2173	.	128	Q96LP6	CL042_HUMAN	S	128;61;128;128	ENSP00000447908:R128S;ENSP00000449362:R61S;ENSP00000367353:R128S;ENSP00000447795:R128S	ENSP00000367353:R128S	R	-	1	0	C12orf42	102224131	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.882000	0.04174	-0.785000	0.04522	-0.492000	0.04666	CGT	C12orf42	-	NULL	ENSG00000179088		0.468	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf42	HGNC	protein_coding	OTTHUMT00000406754.1	68	0.00	0	G	NM_198521		103700001	103700001	-1	no_errors	ENST00000378113	ensembl	human	known	69_37n	missense	80	19.19	19	SNP	0.000	T
CCDC74A	90557	genome.wustl.edu	37	2	132288362	132288362	+	Missense_Mutation	SNP	T	T	C	rs201632382		TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr2:132288362T>C	ENST00000295171.6	+	3	644	c.506T>C	c.(505-507)aTg>aCg	p.M169T	CCDC74A_ENST00000409856.3_Missense_Mutation_p.M103T|CCDC74A_ENST00000467992.2_Missense_Mutation_p.M271T	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	169										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGCCTCTCCATGTCAAGCTTC	0.637																																						dbGAP											0													38.0	56.0	50.0					2																	132288362		2187	4290	6477	-	-	-	SO:0001583	missense	0				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.506T>C	2.37:g.132288362T>C	ENSP00000295171:p.Met169Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P4I5	Missense_Mutation	SNP	NULL	p.M169T	ENST00000295171.6	37	c.506	CCDS2167.1	2	901	0.4125457875457875	256	0.5203252032520326	145	0.4005524861878453	317	0.5541958041958042	183	0.24142480211081793	.	0.004	-2.351374	0.00217	.	.	ENSG00000163040	ENST00000295171;ENST00000409856;ENST00000434330;ENST00000467992	T;T;T;T	0.43294	2.04;2.1;1.04;0.95	1.57	-0.67	0.11384	.	0.998261	0.08101	N	0.997806	T	0.00012	0.0000	N	0.03608	-0.345	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.44651	-0.9314	9	0.02654	T	1	-0.4664	0.5182	0.00607	0.2701:0.3325:0.2175:0.1799	.	103;169	Q96AQ1-2;Q96AQ1	.;CC74A_HUMAN	T	169;103;98;271	ENSP00000295171:M169T;ENSP00000387009:M103T;ENSP00000406839:M98T;ENSP00000444610:M271T	ENSP00000295171:M169T	M	+	2	0	CCDC74A	132004832	0.000000	0.05858	0.001000	0.08648	0.067000	0.16453	-0.660000	0.05317	-0.687000	0.05162	-1.033000	0.02402	ATG	CCDC74A	-	NULL	ENSG00000163040		0.637	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	14	0.00	0	T	NM_138770		132288362	132288362	+1	no_errors	ENST00000295171	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	0.001	C
CCDC89	220388	genome.wustl.edu	37	11	85396110	85396110	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr11:85396110C>A	ENST00000316398.3	-	1	1210	c.1064G>T	c.(1063-1065)aGc>aTc	p.S355I	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	355						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAGATCCAAGCTGTGCTTTTT	0.488																																						dbGAP											0													98.0	91.0	93.0					11																	85396110		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.1064G>T	11.37:g.85396110C>A	ENSP00000320649:p.Ser355Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.S355I	ENST00000316398.3	37	c.1064	CCDS8270.1	11	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826332	0.71143	.	.	ENSG00000179071	ENST00000316398	.	.	.	6.06	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.78123	0.4234	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	T	0.79940	-0.1591	8	.	.	.	-8.5078	17.2208	0.86957	0.0:0.874:0.126:0.0	.	355	Q8N998	CCD89_HUMAN	I	355	.	.	S	-	2	0	CCDC89	85073758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.577000	0.53885	1.536000	0.49237	0.655000	0.94253	AGC	CCDC89	-	NULL	ENSG00000179071		0.488	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC89	HGNC	protein_coding	OTTHUMT00000392182.1	72	0.00	0	C	NM_152723		85396110	85396110	-1	no_errors	ENST00000316398	ensembl	human	known	69_37n	missense	67	22.09	19	SNP	1.000	A
CCRN4L	25819	genome.wustl.edu	37	4	139964462	139964462	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr4:139964462C>T	ENST00000280614.2	+	2	618	c.425C>T	c.(424-426)cCt>cTt	p.P142L	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	142					circadian regulation of gene expression (GO:0032922)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|regulation of circadian rhythm (GO:0042752)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|response to extracellular stimulus (GO:0009991)|response to lipopolysaccharide (GO:0032496)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A)-specific ribonuclease activity (GO:0004535)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					ACCCACCCACCTATCAGGGTT	0.542																																					Ovarian(144;566 1842 19130 21379 22209)	dbGAP											0													112.0	115.0	114.0					4																	139964462		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF183961	CCDS3743.1	4q31.1	2014-06-18	2001-11-28		ENSG00000151014	ENSG00000151014			14254	protein-coding gene	gene with protein product		608468	"""CCR4-like (carbon catabolite repression 4, S.cerevisiae)"""			10521507	Standard	NM_012118		Approved	CCR4L, Ccr4c	uc003ihl.3	Q9UK39	OTTHUMG00000161271	ENST00000280614.2:c.425C>T	4.37:g.139964462C>T	ENSP00000280614:p.Pro142Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNY5|Q14D51|Q9HD93|Q9HD94|Q9HD95	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.P142L	ENST00000280614.2	37	c.425	CCDS3743.1	4	.	.	.	.	.	.	.	.	.	.	C	10.84	1.463117	0.26248	.	.	ENSG00000151014	ENST00000280614	T	0.32272	1.46	4.97	4.97	0.65823	.	0.232643	0.44902	D	0.000410	T	0.26195	0.0639	L	0.53249	1.67	0.80722	D	1	B;B	0.31435	0.323;0.013	B;B	0.21546	0.035;0.02	T	0.04481	-1.0948	9	.	.	.	-14.5832	11.6937	0.51532	0.0:0.9186:0.0:0.0814	.	142;142	Q9UK39;Q8WTX0	NOCT_HUMAN;.	L	142	ENSP00000280614:P142L	.	P	+	2	0	CCRN4L	140183912	0.060000	0.20803	0.139000	0.22197	0.041000	0.13682	2.369000	0.44231	2.315000	0.78130	0.555000	0.69702	CCT	CCRN4L	-	NULL	ENSG00000151014		0.542	CCRN4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCRN4L	HGNC	protein_coding	OTTHUMT00000257231.3	16	0.00	0	C	NM_012118		139964462	139964462	+1	no_errors	ENST00000280614	ensembl	human	known	69_37n	missense	15	28.57	6	SNP	1.000	T
CLEC9A	283420	genome.wustl.edu	37	12	10213790	10213790	+	Silent	SNP	G	G	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr12:10213790G>A	ENST00000355819.1	+	6	850	c.237G>A	c.(235-237)ctG>ctA	p.L79L		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	79					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AGAGGGCACTGCTAAACTTTA	0.408																																						dbGAP											0													87.0	81.0	83.0					12																	10213790		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.237G>A	12.37:g.10213790G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B0ZBM2	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L79	ENST00000355819.1	37	c.237	CCDS8611.1	12																																																																																			CLEC9A	-	NULL	ENSG00000197992		0.408	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	CLEC9A	HGNC	protein_coding	OTTHUMT00000399564.1	30	0.00	0	G	NM_207345		10213790	10213790	+1	no_errors	ENST00000355819	ensembl	human	putative	69_37n	silent	37	28.85	15	SNP	0.003	A
CLOCK	9575	genome.wustl.edu	37	4	56316278	56316279	+	Frame_Shift_Del	DEL	GT	GT	-	rs368399537		TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr4:56316278_56316279delGT	ENST00000309964.4	-	15	1577_1578	c.1327_1328delAC	c.(1327-1329)acgfs	p.T443fs	CLOCK_ENST00000381322.1_Frame_Shift_Del_p.T443fs|CLOCK_ENST00000513440.1_Frame_Shift_Del_p.T443fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	443	Interaction with NR3C1. {ECO:0000250|UniProtKB:O08785}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TGAGACGGCCGTGTGAGATGAT	0.421																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.1327_1328delAC	4.37:g.56316280_56316281delGT	ENSP00000308741:p.Thr443fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_Nuc_translocat	p.T443fs	ENST00000309964.4	37	c.1328_1327	CCDS3500.1	4																																																																																			CLOCK	-	NULL	ENSG00000134852		0.421	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLOCK	HGNC	protein_coding	OTTHUMT00000361993.2	53	0.00	0	GT	NM_004898		56316278	56316279	-1	no_errors	ENST00000309964	ensembl	human	known	69_37n	frame_shift_del	71	14.46	12	DEL	1.000:1.000	-
DENND1B	163486	genome.wustl.edu	37	1	197641237	197641240	+	Frame_Shift_Del	DEL	TGTC	TGTC	-	rs376616839		TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	TGTC	TGTC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr1:197641237_197641240delTGTC	ENST00000367396.3	-	5	392_395	c.223_226delGACA	c.(223-228)gacattfs	p.DI75fs	DENND1B_ENST00000235453.4_Frame_Shift_Del_p.DI65fs|DENND1B_ENST00000400967.2_Frame_Shift_Del_p.DI65fs	NM_144977.4	NP_659414.2	Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	75	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTACTTTCAATGTCTGTCAGTACA	0.353																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC016588	CCDS41452.2, CCDS72996.1, CCDS72997.1	1q31.3	2012-10-03	2005-08-17	2005-08-17	ENSG00000213047	ENSG00000213047		"""DENN/MADD domain containing"""	28404	protein-coding gene	gene with protein product		613292	"""family with sequence similarity 31, member B"", ""chromosome 1 open reading frame 218"""	FAM31B, C1orf218		12477932	Standard	NM_144977		Approved	MGC27044, FLJ20054	uc021pgu.1	Q6P3S1	OTTHUMG00000035653	ENST00000367396.3:c.223_226delGACA	1.37:g.197641241_197641244delTGTC	ENSP00000356366:p.Asp75fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MD89|D3PFD5|Q5T3B8|Q5T3B9|Q5T3C1|Q5TAI8|Q6B0I8|Q8NDT1|Q8TBE6|Q9H774|Q9NXU2	Frame_Shift_Del	DEL	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D75fs	ENST00000367396.3	37	c.226_223	CCDS41452.2	1																																																																																			DENND1B	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000213047		0.353	DENND1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1B	HGNC	protein_coding	OTTHUMT00000086539.1	56	0.00	0	TGTC	NM_144977		197641237	197641240	-1	no_errors	ENST00000367396	ensembl	human	known	69_37n	frame_shift_del	76	16.30	15	DEL	1.000:1.000:1.000:1.000	-
DOCK11	139818	genome.wustl.edu	37	X	117732028	117732028	+	Frame_Shift_Del	DEL	A	A	-			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chrX:117732028delA	ENST00000276202.7	+	22	2484	c.2421delA	c.(2419-2421)gcafs	p.A807fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.A807fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	807	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TAGATGGTGCAAAGCCTTTGT	0.294																																						dbGAP											0													107.0	97.0	100.0					X																	117732028		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2421delA	X.37:g.117732028delA	ENSP00000276202:p.Ala807fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K808fs	ENST00000276202.7	37	c.2421	CCDS35373.1	X																																																																																			DOCK11	-	NULL	ENSG00000147251		0.294	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	61	0.00	0	A	NM_144658		117732028	117732028	+1	no_errors	ENST00000276202	ensembl	human	known	69_37n	frame_shift_del	91	10.68	11	DEL	0.998	-
DYX1C1	161582	genome.wustl.edu	37	15	55742419	55742419	+	Splice_Site	SNP	C	C	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr15:55742419C>A	ENST00000321149.3	-	6	1151		c.e6+1		DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000457155.2_Splice_Site|DYX1C1_ENST00000348518.3_Splice_Site|DYX1C1_ENST00000380679.1_Splice_Site|DYX1C1_ENST00000448430.2_Splice_Site	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1						cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		AGTATATATACCTCCTCCTCT	0.338																																						dbGAP											0													85.0	83.0	83.0					15																	55742419		2193	4292	6485	-	-	-	SO:0001630	splice_region_variant	0				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.783+1G>T	15.37:g.55742419C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P5Y9|Q8N1S6	Splice_Site	SNP	-	e5+1	ENST00000321149.3	37	c.783+1	CCDS10154.1	15	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929226	0.73327	.	.	ENSG00000256061	ENST00000420792;ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4827	0.90818	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DYX1C1	53529711	1.000000	0.71417	0.999000	0.59377	0.879000	0.50718	5.010000	0.64004	2.787000	0.95880	0.585000	0.79938	.	DYX1C1	-	-	ENSG00000256061		0.338	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYX1C1	HGNC	protein_coding	OTTHUMT00000254976.1	68	0.00	0	C	NM_130810	Intron	55742419	55742419	-1	no_errors	ENST00000321149	ensembl	human	known	69_37n	splice_site	68	12.82	10	SNP	1.000	A
EEF1A1	1915	genome.wustl.edu	37	6	74227785	74227786	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr6:74227785_74227786insA	ENST00000316292.9	-	6	2222_2223	c.1231_1232insT	c.(1231-1233)tgtfs	p.C411fs	EEF1A1_ENST00000309268.6_Frame_Shift_Ins_p.C411fs|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Frame_Shift_Ins_p.C411fs	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	411					cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCTCTCAACACACATGGGCTTG	0.401											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.1232dupT	6.37:g.74227786_74227786dupA	ENSP00000339063:p.Cys411fs	Somatic	1151	WXS	Illumina GAIIx	Phase_IV	P04719|P04720|Q6IQ15	Frame_Shift_Ins	INS	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc	p.C411fs	ENST00000316292.9	37	c.1232_1231	CCDS4980.1	6																																																																																			EEF1A1	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C,tigrfam_Transl_elong_EF1A_euk/arc	ENSG00000156508		0.401	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	22	0.00	0	-	NM_001402		74227785	74227786	-1	no_errors	ENST00000309268	ensembl	human	known	69_37n	frame_shift_ins	34	27.66	13	INS	1.000:1.000	A
EIF4A2	1974	genome.wustl.edu	37	3	186507018	186507018	+	Missense_Mutation	SNP	C	C	T	rs199556041		TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr3:186507018C>T	ENST00000323963.5	+	11	1248	c.1184C>T	c.(1183-1185)aCa>aTa	p.T395I	SNORA81_ENST00000408493.2_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.T396I|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.T300I|SNORA63_ENST00000363450.1_RNA|SNORA4_ENST00000584302.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	395	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TACAATACTACAGTGGAGGAG	0.458			T	BCL6	NHL																																	dbGAP		Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													191.0	197.0	195.0					3																	186507018		2203	4300	6503	-	-	-	SO:0001583	missense	0			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.1184C>T	3.37:g.186507018C>T	ENSP00000326381:p.Thr395Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.T396I	ENST00000323963.5	37	c.1187	CCDS3282.1	3	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069319	0.36470	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.34667	1.61;1.61;1.35	5.87	5.87	0.94306	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	L	0.41236	1.265	0.80722	D	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.15052	0.002;0.012;0.005	T	0.05435	-1.0885	10	0.59425	D	0.04	-2.576	18.0718	0.89410	0.0:1.0:0.0:0.0	.	300;396;395	Q9NZE6;Q14240-2;Q14240	.;.;IF4A2_HUMAN	I	395;396;300	ENSP00000326381:T395I;ENSP00000398370:T396I;ENSP00000348925:T300I	ENSP00000326381:T395I	T	+	2	0	EIF4A2	187989712	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.340000	0.79292	2.941000	0.99782	0.655000	0.94253	ACA	EIF4A2	-	pfscan_Helicase_C	ENSG00000156976		0.458	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	50	0.00	0	C	NM_001967		186507018	186507018	+1	no_errors	ENST00000440191	ensembl	human	known	69_37n	missense	85	10.42	10	SNP	1.000	T
ENPP5	59084	genome.wustl.edu	37	6	46135740	46135740	+	Missense_Mutation	SNP	T	T	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr6:46135740T>A	ENST00000371383.2	-	3	520	c.260A>T	c.(259-261)aAt>aTt	p.N87I	ENPP5_ENST00000230565.3_Missense_Mutation_p.N87I|ENPP5_ENST00000492313.1_5'Flank					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						AATCCCATGATTCTCTGCAAA	0.348																																						dbGAP											0													65.0	61.0	63.0					6																	46135740		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.260A>T	6.37:g.46135740T>A	ENSP00000360436:p.Asn87Ile	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.N87I	ENST00000371383.2	37	c.260	CCDS4915.1	6	.	.	.	.	.	.	.	.	.	.	T	15.02	2.710251	0.48517	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.72615	-0.67;-0.67	5.51	0.3	0.15776	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.205112	0.48286	D	0.000181	T	0.47619	0.1455	L	0.53729	1.69	0.37297	D	0.908515	B;B	0.20368	0.044;0.018	B;B	0.23275	0.045;0.045	T	0.49899	-0.8890	10	0.87932	D	0	-19.3016	9.7259	0.40330	0.0:0.7137:0.0:0.2863	.	87;87	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	I	87	ENSP00000360436:N87I;ENSP00000230565:N87I	ENSP00000230565:N87I	N	-	2	0	ENPP5	46243699	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.651000	0.37302	0.148000	0.19059	0.482000	0.46254	AAT	ENPP5	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	ENSG00000112796		0.348	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP5	HGNC	protein_coding	OTTHUMT00000040779.2	41	0.00	0	T			46135740	46135740	-1	no_errors	ENST00000230565	ensembl	human	known	69_37n	missense	40	25.93	14	SNP	1.000	A
FAP	2191	genome.wustl.edu	37	2	163072473	163072473	+	Silent	SNP	G	G	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr2:163072473G>A	ENST00000188790.4	-	10	1008	c.801C>T	c.(799-801)atC>atT	p.I267I	FAP_ENST00000443424.1_Silent_p.I242I	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AAGTGGTATCGATAATAAATA	0.413																																						dbGAP											0													85.0	84.0	85.0					2																	163072473		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.801C>T	2.37:g.163072473G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.I267	ENST00000188790.4	37	c.801	CCDS33311.1	2																																																																																			FAP	-	pfam_Peptidase_S9B	ENSG00000078098		0.413	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	35	0.00	0	G			163072473	163072473	-1	no_errors	ENST00000188790	ensembl	human	known	69_37n	silent	42	16.00	8	SNP	0.412	A
GBF1	8729	genome.wustl.edu	37	10	104111081	104111081	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr10:104111081G>A	ENST00000369983.3	+	5	624	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	122					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCTCGTTTTGTGGGCACGGA	0.522																																						dbGAP											0													99.0	85.0	90.0					10																	104111081		2203	4300	6503	-	-	-	SO:0001583	missense	0			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.364G>A	10.37:g.104111081G>A	ENSP00000359000:p.Val122Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.V122M	ENST00000369983.3	37	c.364	CCDS7533.1	10	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542422	0.65198	.	.	ENSG00000107862	ENST00000369983	T	0.11169	2.8	5.98	5.98	0.97165	.	0.114240	0.64402	D	0.000014	T	0.30386	0.0763	L	0.59436	1.845	0.80722	D	1	P;P;D;D	0.67145	0.881;0.656;0.996;0.995	P;B;P;D	0.64506	0.471;0.391;0.846;0.926	T	0.00039	-1.2239	10	0.37606	T	0.19	-14.1336	20.4561	0.99145	0.0:0.0:1.0:0.0	.	122;122;122;122	Q149P1;Q149P0;Q92538;Q504U7	.;.;GBF1_HUMAN;.	M	122	ENSP00000359000:V122M	ENSP00000359000:V122M	V	+	1	0	GBF1	104101071	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.610000	0.98337	2.847000	0.97988	0.591000	0.81541	GTG	GBF1	-	superfamily_ARM-type_fold	ENSG00000107862		0.522	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	42	0.00	0	G			104111081	104111081	+1	no_errors	ENST00000369983	ensembl	human	known	69_37n	missense	27	34.15	14	SNP	1.000	A
GGA1	26088	genome.wustl.edu	37	22	38013003	38013003	+	Splice_Site	SNP	C	C	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr22:38013003C>T	ENST00000343632.4	+	3	589	c.203C>T	c.(202-204)aCg>aTg	p.T68M	GGA1_ENST00000337437.4_Splice_Site_p.T68M|GGA1_ENST00000406772.1_5'UTR|GGA1_ENST00000414350.3_Missense_Mutation_p.T68M|GGA1_ENST00000325180.8_Splice_Site_p.T68M|GGA1_ENST00000405147.3_Splice_Site_p.T68M|GGA1_ENST00000381756.5_Missense_Mutation_p.T68M	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	68	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CAGGCCTTGACGGTGAGAAGG	0.642																																						dbGAP											0													57.0	51.0	53.0					22																	38013003		2200	4297	6497	-	-	-	SO:0001630	splice_region_variant	0			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.204+1C>T	22.37:g.38013003C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.T68M	ENST00000343632.4	37	c.203	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373866	0.82573	.	.	ENSG00000100083	ENST00000414350;ENST00000343632;ENST00000381756;ENST00000405147;ENST00000325180;ENST00000337437;ENST00000449944	T;T;T;T;T;T;T	0.24538	1.85;1.85;1.85;1.85;1.85;1.85;1.85	5.28	5.28	0.74379	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.191868	0.53938	D	0.000043	T	0.49864	0.1582	M	0.79475	2.455	0.58432	D	0.999992	D;D;P;P	0.67145	0.988;0.996;0.858;0.867	P;P;P;B	0.58454	0.791;0.839;0.7;0.235	T	0.52653	-0.8547	10	0.52906	T	0.07	-22.1663	18.9101	0.92479	0.0:1.0:0.0:0.0	.	68;68;68;68	Q6IC75;Q86YA9;Q9UJY5;Q8NCS6	.;.;GGA1_HUMAN;.	M	68;68;68;68;68;68;60	ENSP00000414387:T68M;ENSP00000341344:T68M;ENSP00000371175:T68M;ENSP00000384030:T68M;ENSP00000321288:T68M;ENSP00000338647:T68M;ENSP00000390416:T60M	ENSP00000321288:T68M	T	+	2	0	GGA1	36342949	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	3.737000	0.55060	2.473000	0.83533	0.650000	0.86243	ACG	GGA1	-	pfam_VHS,superfamily_ENTH_VHS,smart_VHS_subgr,pfscan_VHS	ENSG00000100083		0.642	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	14	0.00	0	C	NM_013365	Missense_Mutation	38013003	38013003	+1	no_errors	ENST00000343632	ensembl	human	known	69_37n	missense	10	41.18	7	SNP	1.000	T
GCAT	23464	genome.wustl.edu	37	22	38206091	38206091	+	Missense_Mutation	SNP	T	T	C			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr22:38206091T>C	ENST00000248924.6	+	2	310	c.254T>C	c.(253-255)aTc>aCc	p.I85T	GCAT_ENST00000323205.6_Missense_Mutation_p.I111T|GCAT_ENST00000415371.1_Intron	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	85					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CCTGAGGTGATCCAGGCAGGT	0.577																																						dbGAP											0													95.0	80.0	85.0					22																	38206091		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.254T>C	22.37:g.38206091T>C	ENSP00000248924:p.Ile85Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	p.I85T	ENST00000248924.6	37	c.254	CCDS13957.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	25.2|25.2	4.609988|4.609988	0.87258|0.87258	.|.	.|.	ENSG00000100116|ENSG00000100116	ENST00000323205;ENST00000248924;ENST00000445195;ENST00000394944|ENST00000451984	D;D;D|.	0.90732|.	-2.72;-2.72;-2.72|.	5.08|5.08	5.08|5.08	0.68730|0.68730	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.056923|.	0.64402|.	D|.	0.000001|.	T|T	0.68586|0.68586	0.3017|0.3017	L|L	0.55017|0.55017	1.72|1.72	0.80722|0.80722	D|D	1|1	P;P|.	0.52577|.	0.835;0.954|.	P;P|.	0.60682|.	0.612;0.878|.	T|T	0.67138|0.67138	-0.5746|-0.5746	10|5	0.72032|.	D|.	0.01|.	-25.9804|-25.9804	15.01|15.01	0.71542|0.71542	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	111;85|.	E2QC23;O75600|.	.;KBL_HUMAN|.	T|P	111;85;111;111|70	ENSP00000371110:I111T;ENSP00000248924:I85T;ENSP00000406719:I111T|.	ENSP00000248924:I85T|.	I|S	+|+	2|1	0|0	GCAT|GCAT	36536037|36536037	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	7.060000|7.060000	0.76692|0.76692	2.139000|2.139000	0.66308|0.66308	0.459000|0.459000	0.35465|0.35465	ATC|TCC	GCAT	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	ENSG00000100116		0.577	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	62	0.00	0	T	NM_014291.2		38206091	38206091	+1	no_errors	ENST00000248924	ensembl	human	known	69_37n	missense	50	23.08	15	SNP	1.000	C
GOLGA6L2	283685	genome.wustl.edu	37	15	23685826	23685828	+	In_Frame_Del	DEL	TCT	TCT	-	rs372813065		TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr15:23685826_23685828delTCT	ENST00000567107.1	-	8	1846_1848	c.1794_1796delAGA	c.(1792-1797)gaagat>gat	p.E598del	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						tgctgccacatcttcttctgctc	0.581																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1794_1796delAGA	15.37:g.23685832_23685834delTCT	ENSP00000454407:p.Glu598del	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	In_Frame_Del	DEL	NULL	p.E598in_frame_del	ENST00000567107.1	37	c.1796_1794		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.581	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	18	0.00	0	TCT	NM_182561		23685826	23685828	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	in_frame_del	12	40.00	8	DEL	0.000:0.000:0.000	-
KCND3	3752	genome.wustl.edu	37	1	112321061	112321061	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr1:112321061G>C	ENST00000315987.2	-	6	1994	c.1515C>G	c.(1513-1515)atC>atG	p.I505M	KCND3_ENST00000302127.4_Intron|KCND3_ENST00000369697.1_Intron	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	505					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GTTATACCTTGATGGTGGAGG	0.418																																						dbGAP											0													133.0	128.0	129.0					1																	112321061		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.1515C>G	1.37:g.112321061G>C	ENSP00000319591:p.Ile505Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.3,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.I505M	ENST00000315987.2	37	c.1515	CCDS843.1	1	.	.	.	.	.	.	.	.	.	.	g	11.43	1.637498	0.29157	.	.	ENSG00000171385	ENST00000315987	D	0.96856	-4.15	5.33	5.33	0.75918	Potassium channel, voltage dependent, Kv4, C-terminal (1);	0.341546	0.31415	N	0.007693	D	0.86464	0.5939	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.83070	-0.0143	10	0.41790	T	0.15	.	14.2574	0.66060	0.0:0.1493:0.8507:0.0	.	505	Q9UK17	KCND3_HUMAN	M	505	ENSP00000319591:I505M	ENSP00000319591:I505M	I	-	3	3	KCND3	112122584	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.380000	0.66202	2.494000	0.84150	0.651000	0.88453	ATC	KCND3	-	pfam_K_chnl_volt-dep_Kv4_C	ENSG00000171385		0.418	KCND3-001	KNOWN	basic|CCDS	protein_coding	KCND3	HGNC	protein_coding	OTTHUMT00000033144.1	47	0.00	0	G	NM_172198		112321061	112321061	-1	no_errors	ENST00000315987	ensembl	human	known	69_37n	missense	58	20.55	15	SNP	1.000	C
LRRC37A4P	55073	genome.wustl.edu	37	17	43591861	43591861	+	RNA	SNP	G	G	A	rs199946580	byFrequency	TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr17:43591861G>A	ENST00000579913.1	-	0	661				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		CCCTTGTGAAGGGGAATTTAT	0.428																																						dbGAP											0																																										-	-	-			0			AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43591861G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000579913.1	37	NULL		17																																																																																			LRRC37A4P	-	-	ENSG00000214425		0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	LRRC37A4P	HGNC	pseudogene	OTTHUMT00000445300.1	33	0.00	0	G	NR_002940		43591861	43591861	-1	no_errors	ENST00000579913	ensembl	human	known	69_37n	rna	15	25.00	5	SNP	0.012	A
KMT2D	8085	genome.wustl.edu	37	12	49427194	49427194	+	Missense_Mutation	SNP	G	G	C			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr12:49427194G>C	ENST00000301067.7	-	39	11293	c.11294C>G	c.(11293-11295)aCa>aGa	p.T3765R	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3765	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGCTTGGTTTGTCTGTACTCC	0.627																																						dbGAP											0													18.0	23.0	22.0					12																	49427194		2170	4269	6439	-	-	-	SO:0001583	missense	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11294C>G	12.37:g.49427194G>C	ENSP00000301067:p.Thr3765Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O14687	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.T3765R	ENST00000301067.7	37	c.11294	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	3.828	-0.036289	0.07497	.	.	ENSG00000167548	ENST00000301067	T	0.78707	-1.2	4.74	1.26	0.21427	.	0.842130	0.09685	N	0.769201	T	0.55465	0.1922	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.49670	-0.8915	10	0.87932	D	0	.	4.1024	0.10020	0.2544:0.0:0.568:0.1775	.	3765	O14686	MLL2_HUMAN	R	3765	ENSP00000301067:T3765R	ENSP00000301067:T3765R	T	-	2	0	MLL2	47713461	0.002000	0.14202	0.925000	0.36789	0.880000	0.50808	0.668000	0.25127	0.876000	0.35872	0.462000	0.41574	ACA	MLL2	-	NULL	ENSG00000167548		0.627	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	33	0.00	0	G			49427194	49427194	-1	no_errors	ENST00000301067	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.294	C
MSH3	4437	genome.wustl.edu	37	5	80088607	80088607	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr5:80088607A>G	ENST00000265081.6	+	19	2679	c.2599A>G	c.(2599-2601)Att>Gtt	p.I867V		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	867					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GCACCCTGTGATTGATGTGTT	0.338								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	dbGAP											0													95.0	98.0	97.0					5																	80088607		2203	4298	6501	-	-	-	SO:0001583	missense	0			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.2599A>G	5.37:g.80088607A>G	ENSP00000265081:p.Ile867Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.I867V	ENST00000265081.6	37	c.2599	CCDS34195.1	5	.	.	.	.	.	.	.	.	.	.	A	12.80	2.046761	0.36085	.	.	ENSG00000113318	ENST00000265081;ENST00000535995	D	0.83250	-1.7	5.41	5.41	0.78517	DNA mismatch repair protein MutS, core (1);DNA mismatch repair protein MutS, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82435	0.5036	N	0.12182	0.205	0.43222	D	0.995102	D	0.71674	0.998	D	0.83275	0.996	T	0.82137	-0.0606	9	.	.	.	-23.0118	14.448	0.67364	1.0:0.0:0.0:0.0	.	867	P20585	MSH3_HUMAN	V	867;858	ENSP00000265081:I867V	.	I	+	1	0	MSH3	80124363	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	8.103000	0.89550	2.039000	0.60335	0.528000	0.53228	ATT	MSH3	-	pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_core	ENSG00000113318		0.338	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	MSH3	HGNC	protein_coding	OTTHUMT00000369471.1	71	0.00	0	A	NM_002439		80088607	80088607	+1	no_errors	ENST00000265081	ensembl	human	known	69_37n	missense	52	32.05	25	SNP	1.000	G
MUC4	4585	genome.wustl.edu	37	3	195506579	195506579	+	Missense_Mutation	SNP	T	T	C	rs200317787|rs71291866	byFrequency	TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr3:195506579T>C	ENST00000463781.3	-	2	12331	c.11872A>G	c.(11872-11874)Act>Gct	p.T3958A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3958A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGAGGAAGTGTCGGTGACA	0.597																																						dbGAP											0													17.0	11.0	13.0					3																	195506579		678	1521	2199	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11872A>G	3.37:g.195506579T>C	ENSP00000417498:p.Thr3958Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.T3958A	ENST00000463781.3	37	c.11872	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	N	0.312	-0.967054	0.02232	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33438	1.41;1.5	.	.	.	.	.	.	.	.	T	0.13586	0.0329	N	0.19112	0.55	0.09310	N	1	B	0.17465	0.022	B	0.15870	0.014	T	0.20240	-1.0281	7	.	.	.	.	4.0904	0.09967	0.0:1.0E-4:0.3498:0.6501	.	3830	E7ESK3	.	A	3958	ENSP00000417498:T3958A;ENSP00000420243:T3958A	.	T	-	1	0	MUC4	196991358	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.372000	0.07504	-2.418000	0.00566	-2.418000	0.00219	ACT	MUC4	-	NULL	ENSG00000145113		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	25	0.00	0	T	NM_018406		195506579	195506579	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	0.255	C
MYO18B	84700	genome.wustl.edu	37	22	26164533	26164533	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr22:26164533G>A	ENST00000407587.2	+	4	819	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	MYO18B_ENST00000536101.1_Missense_Mutation_p.R217Q|MYO18B_ENST00000335473.7_Missense_Mutation_p.R217Q			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	217						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAGAAGACCCGGACTGGGGGT	0.592																																						dbGAP											0													20.0	23.0	22.0					22																	26164533		1840	4083	5923	-	-	-	SO:0001583	missense	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.650G>A	22.37:g.26164533G>A	ENSP00000386096:p.Arg217Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R217Q	ENST00000407587.2	37	c.650		22	.	.	.	.	.	.	.	.	.	.	g	10.86	1.468914	0.26335	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.86865	-2.16;-2.16;-2.18	4.3	-6.99	0.01605	.	2.980170	0.01277	N	0.009637	T	0.65069	0.2656	N	0.08118	0	0.09310	N	1	B;B;B	0.14012	0.005;0.009;0.009	B;B;B	0.06405	0.001;0.002;0.002	T	0.66023	-0.6026	10	0.06099	T	0.92	.	1.5336	0.02541	0.337:0.2002:0.3365:0.1263	.	217;217;217	Q8IUG5;F5GXR6;F5GYU7	MY18B_HUMAN;.;.	Q	217	ENSP00000441229:R217Q;ENSP00000334563:R217Q;ENSP00000386096:R217Q	ENSP00000334563:R217Q	R	+	2	0	MYO18B	24494533	0.000000	0.05858	0.003000	0.11579	0.410000	0.31052	-0.369000	0.07533	-1.201000	0.02659	0.298000	0.19748	CGG	MYO18B	-	NULL	ENSG00000133454		0.592	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	18	0.00	0	G	NM_032608		26164533	26164533	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.000	A
NCOR2	9612	genome.wustl.edu	37	12	124904522	124904522	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr12:124904522C>T	ENST00000405201.1	-	13	1463	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	NCOR2_ENST00000429285.2_Missense_Mutation_p.R487Q|NCOR2_ENST00000356219.3_Missense_Mutation_p.R488Q|NCOR2_ENST00000404121.2_Missense_Mutation_p.R58Q|NCOR2_ENST00000397355.1_Missense_Mutation_p.R488Q|NCOR2_ENST00000404621.1_Missense_Mutation_p.R487Q			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	488					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCCGCGGCGCCGATAGCTCCG	0.582																																						dbGAP											0													123.0	133.0	129.0					12																	124904522		2015	4167	6182	-	-	-	SO:0001583	missense	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1463G>A	12.37:g.124904522C>T	ENSP00000384018:p.Arg488Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R488Q	ENST00000405201.1	37	c.1463	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417663	0.62622	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000420698	T;T;T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47;1.47;1.47	4.52	4.52	0.55395	.	0.139429	0.47093	D	0.000255	T	0.49029	0.1533	L	0.48362	1.52	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.71870	0.944;0.944;0.975	T	0.49457	-0.8938	10	0.52906	T	0.07	-31.062	17.6457	0.88148	0.0:1.0:0.0:0.0	.	487;488;488	C9J0Q5;C9J239;C9JFD3	.;.;.	Q	488;487;488;488;488;58;487;488;488	ENSP00000384018:R488Q;ENSP00000384202:R487Q;ENSP00000348551:R488Q;ENSP00000380513:R488Q;ENSP00000385618:R58Q;ENSP00000400281:R487Q;ENSP00000402808:R488Q;ENSP00000405367:R488Q	ENSP00000348551:R488Q	R	-	2	0	NCOR2	123470475	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.321000	0.79088	2.255000	0.74692	0.561000	0.74099	CGG	NCOR2	-	NULL	ENSG00000196498		0.582	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	59	0.00	0	C	NM_006312		124904522	124904522	-1	no_errors	ENST00000356219	ensembl	human	known	69_37n	missense	68	22.47	20	SNP	1.000	T
PIK3CD	5293	genome.wustl.edu	37	1	9784395	9784395	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr1:9784395G>A	ENST00000377346.4	+	22	2975	c.2780G>A	c.(2779-2781)cGc>cAc	p.R927H	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R951H|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R951H	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	927	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GGAATCAACCGCGAGCGTGTC	0.498																																						dbGAP											0													104.0	116.0	112.0					1																	9784395		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2780G>A	1.37:g.9784395G>A	ENSP00000366563:p.Arg927His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.R951H	ENST00000377346.4	37	c.2852	CCDS104.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.448834	0.96205	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.76316	-1.01;-1.01;-1.01	5.2	5.2	0.72013	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.91153	0.7214	M	0.92604	3.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;1.0	D	0.93239	0.6624	10	0.87932	D	0	-13.5251	18.7248	0.91710	0.0:0.0:1.0:0.0	.	926;951;927	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	H	951;927;951;951	ENSP00000446444:R951H;ENSP00000366563:R927H;ENSP00000354410:R951H	ENSP00000353766:R951H	R	+	2	0	PIK3CD	9706982	1.000000	0.71417	0.955000	0.39395	0.985000	0.73830	9.863000	0.99569	2.414000	0.81942	0.655000	0.94253	CGC	PIK3CD	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000171608		0.498	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CD	HGNC	protein_coding	OTTHUMT00000004235.1	68	0.00	0	G	NM_005026		9784395	9784395	+1	no_errors	ENST00000536656	ensembl	human	known	69_37n	missense	53	22.06	15	SNP	1.000	A
PLCE1	51196	genome.wustl.edu	37	10	95994013	95994013	+	Missense_Mutation	SNP	G	G	A	rs532351295		TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr10:95994013G>A	ENST00000371380.3	+	5	2393	c.2158G>A	c.(2158-2160)Gcc>Acc	p.A720T	PLCE1_ENST00000371385.3_Missense_Mutation_p.A412T|PLCE1_ENST00000260766.3_Missense_Mutation_p.A720T|PLCE1_ENST00000371375.1_Missense_Mutation_p.A412T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	720	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GCTTGACGGCGCCTCCGGTCT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		17409	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													132.0	132.0	132.0					10																	95994013		2004	4186	6190	-	-	-	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.2158G>A	10.37:g.95994013G>A	ENSP00000360431:p.Ala720Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.A720T	ENST00000371380.3	37	c.2158	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	8.149	0.786995	0.16189	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.78	1.52	0.23074	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.338684	0.31415	N	0.007691	T	0.11281	0.0275	N	0.03115	-0.41	0.31615	N	0.651033	B;B;B	0.24882	0.101;0.034;0.113	B;B;B	0.23150	0.044;0.015;0.021	T	0.17107	-1.0380	10	0.23891	T	0.37	.	6.9752	0.24670	0.2161:0.0:0.6556:0.1283	.	720;412;720	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	720;720;412;412	ENSP00000260766:A720T;ENSP00000360431:A720T;ENSP00000360438:A412T;ENSP00000360426:A412T	ENSP00000260766:A720T	A	+	1	0	PLCE1	95984003	0.785000	0.28726	0.971000	0.41717	0.016000	0.09150	1.051000	0.30417	0.350000	0.24002	-0.274000	0.10170	GCC	PLCE1	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000138193		0.532	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	59	0.00	0	G	NM_016341		95994013	95994013	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	missense	85	11.34	11	SNP	0.992	A
POLQ	10721	genome.wustl.edu	37	3	121206799	121206799	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr3:121206799G>A	ENST00000264233.5	-	16	5107	c.4979C>T	c.(4978-4980)tCa>tTa	p.S1660L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1660					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TATAGTCATTGATTTTAGCTT	0.328								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	dbGAP											0													61.0	66.0	64.0					3																	121206799		2194	4292	6486	-	-	-	SO:0001583	missense	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4979C>T	3.37:g.121206799G>A	ENSP00000264233:p.Ser1660Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.S1660L	ENST00000264233.5	37	c.4979	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	0	-2.582434	0.00129	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.45668	0.89	5.72	-2.59	0.06209	.	2.365320	0.01224	N	0.008190	T	0.19087	0.0458	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12941	-1.0528	10	0.17369	T	0.5	.	6.264	0.20915	0.2247:0.1226:0.5334:0.1193	.	1660;832	O75417;O75417-2	DPOLQ_HUMAN;.	L	1283;1660;1796	ENSP00000264233:S1660L	ENSP00000264233:S1660L	S	-	2	0	POLQ	122689489	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.007000	0.13174	-0.338000	0.08413	-0.320000	0.08662	TCA	POLQ	-	NULL	ENSG00000051341		0.328	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	48	0.00	0	G	NM_199420		121206799	121206799	-1	no_errors	ENST00000264233	ensembl	human	known	69_37n	missense	60	10.45	7	SNP	0.000	A
PRICKLE3	4007	genome.wustl.edu	37	X	49034432	49034432	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chrX:49034432G>A	ENST00000376317.3	-	7	959	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.R221C|PRICKLE3_ENST00000536904.1_Missense_Mutation_p.R208C	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	289	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						ATGACATAGCGCTGCCCTCCT	0.617																																						dbGAP											0													60.0	51.0	54.0					X																	49034432		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.865C>T	X.37:g.49034432G>A	ENSP00000365494:p.Arg289Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R289C	ENST00000376317.3	37	c.865	CCDS14320.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.23|18.23	3.578181|3.578181	0.65878|0.65878	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000453382;ENST00000432913|ENST00000376317;ENST00000536904;ENST00000540849	.|D;D;D	.|0.87650	.|-2.28;-2.28;-2.28	4.89|4.89	4.01|4.01	0.46588|0.46588	.|Zinc finger, LIM-type (4);	.|0.195727	.|0.25558	.|N	.|0.029851	D|D	0.93808|0.93808	0.8020|0.8020	M|M	0.88640|0.88640	2.97|2.97	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.83275	.|0.995;0.995;0.995;0.996	D|D	0.94059|0.94059	0.7325|0.7325	5|10	.|0.87932	.|D	.|0	-22.4234|-22.4234	12.3309|12.3309	0.55039|0.55039	0.0:0.1671:0.8329:0.0|0.0:0.1671:0.8329:0.0	.|.	.|289;251;208;289	.|B2RBS3;B7Z6S4;B7Z8F2;O43900	.|.;.;.;PRIC3_HUMAN	V|C	301;299|289;208;221	.|ENSP00000365494:R289C;ENSP00000441385:R208C;ENSP00000446051:R221C	.|ENSP00000365494:R289C	A|R	-|-	2|1	0|0	PRICKLE3|PRICKLE3	48921376|48921376	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.512000|0.512000	0.34134|0.34134	3.115000|3.115000	0.50391|0.50391	0.934000|0.934000	0.37316|0.37316	0.416000|0.416000	0.27883|0.27883	GCG|CGC	PRICKLE3	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000012211		0.617	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	HGNC	protein_coding	OTTHUMT00000060811.1	20	0.00	0	G	NM_006150		49034432	49034432	-1	no_errors	ENST00000376317	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	1.000	A
PRKDC	5591	genome.wustl.edu	37	8	48801132	48801132	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr8:48801132C>A	ENST00000314191.2	-	35	4413	c.4357G>T	c.(4357-4359)Gcc>Tcc	p.A1453S	AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A1453S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1454					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TGTTTACAGGCAGACACAACA	0.443								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													29.0	31.0	31.0					8																	48801132		1981	4175	6156	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4357G>T	8.37:g.48801132C>A	ENSP00000313420:p.Ala1453Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.A1453S	ENST00000314191.2	37	c.4357		8	.	.	.	.	.	.	.	.	.	.	C	11.24	1.578976	0.28180	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02498	4.34;4.27	5.37	5.37	0.77165	.	0.137856	0.49916	D	0.000132	T	0.04588	0.0125	L	0.52126	1.63	0.58432	D	0.999996	B;B	0.33379	0.41;0.41	B;B	0.27380	0.079;0.079	T	0.49031	-0.8981	10	0.37606	T	0.19	.	19.1121	0.93319	0.0:1.0:0.0:0.0	.	1453;1454	E7EUY0;P78527	.;PRKDC_HUMAN	S	1453	ENSP00000313420:A1453S;ENSP00000345182:A1453S	ENSP00000313420:A1453S	A	-	1	0	PRKDC	48963685	0.999000	0.42202	0.139000	0.22197	0.714000	0.41099	3.585000	0.53943	2.517000	0.84864	0.591000	0.81541	GCC	PRKDC	-	NULL	ENSG00000253729		0.443	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		32	0.00	0	C	NM_001081640		48801132	48801132	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.994	A
PROM1	8842	genome.wustl.edu	37	4	16040615	16040615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr4:16040615delC	ENST00000510224.1	-	3	478	c.230delG	c.(229-231)agafs	p.R77fs	PROM1_ENST00000447510.2_Frame_Shift_Del_p.R77fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.R77fs|PROM1_ENST00000505450.1_Frame_Shift_Del_p.R77fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.R77fs|PROM1_ENST00000543373.1_Frame_Shift_Del_p.R77fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.R77fs|PROM1_ENST00000502943.1_5'Flank			O43490	PROM1_HUMAN	prominin 1	77					camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TAAGAATTTTCTCAAAGTATC	0.219																																						dbGAP											0													15.0	15.0	15.0					4																	16040615		1756	3989	5745	-	-	-	SO:0001589	frameshift_variant	0			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.230delG	4.37:g.16040615delC	ENSP00000426809:p.Arg77fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Frame_Shift_Del	DEL	pfam_Prominin	p.R77fs	ENST00000510224.1	37	c.230	CCDS47029.1	4																																																																																			PROM1	-	pfam_Prominin	ENSG00000007062		0.219	PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROM1	HGNC	protein_coding	OTTHUMT00000359595.2	41	0.00	0	C	NM_006017		16040615	16040615	-1	no_errors	ENST00000447510	ensembl	human	known	69_37n	frame_shift_del	45	19.30	11	DEL	0.006	-
PVRL3	25945	genome.wustl.edu	37	3	110841072	110841072	+	Missense_Mutation	SNP	T	T	G			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr3:110841072T>G	ENST00000485303.1	+	4	1179	c.904T>G	c.(904-906)Tct>Gct	p.S302A	PVRL3_ENST00000319792.3_Missense_Mutation_p.S302A|PVRL3_ENST00000493615.1_Missense_Mutation_p.S279A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	302	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACCCTTCAAATCTGTGTGGAG	0.338																																						dbGAP											0													72.0	71.0	72.0					3																	110841072		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.904T>G	3.37:g.110841072T>G	ENSP00000418070:p.Ser302Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	p.S302A	ENST00000485303.1	37	c.904	CCDS2957.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.68|14.68	2.609023|2.609023	0.46527|0.46527	.|.	.|.	ENSG00000177707|ENSG00000177707	ENST00000486596|ENST00000485303;ENST00000319792;ENST00000493615	.|T;T;T	.|0.11712	.|2.75;2.75;2.75	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.223550	.|0.48767	.|D	.|0.000167	T|T	0.10594|0.10594	0.0259|0.0259	L|L	0.38175|0.38175	1.15|1.15	0.25758|0.25758	N|N	0.984975|0.984975	.|P;B	.|0.41102	.|0.738;0.159	.|B;B	.|0.41691	.|0.364;0.078	T|T	0.19063|0.19063	-1.0317|-1.0317	5|10	.|0.46703	.|T	.|0.11	.|.	9.2005|9.2005	0.37256|0.37256	0.1617:0.0:0.0:0.8383|0.1617:0.0:0.0:0.8383	.|.	.|279;302	.|E9PFR0;Q9NQS3	.|.;PVRL3_HUMAN	S|A	202|302;302;279	.|ENSP00000418070:S302A;ENSP00000321514:S302A;ENSP00000420579:S279A	.|ENSP00000321514:S302A	I|S	+|+	2|1	0|0	PVRL3|PVRL3	112323762|112323762	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	5.142000|5.142000	0.64820|0.64820	2.164000|2.164000	0.68074|0.68074	0.397000|0.397000	0.26171|0.26171	ATC|TCT	PVRL3	-	pfscan_Ig-like	ENSG00000177707		0.338	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL3	HGNC	protein_coding	OTTHUMT00000354045.1	42	0.00	0	T	NM_015480		110841072	110841072	+1	no_errors	ENST00000485303	ensembl	human	known	69_37n	missense	50	10.53	6	SNP	1.000	G
REL	5966	genome.wustl.edu	37	2	61149040	61149040	+	Silent	SNP	A	A	G			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr2:61149040A>G	ENST00000295025.8	+	11	1550	c.1230A>G	c.(1228-1230)tcA>tcG	p.S410S	REL_ENST00000394479.3_Silent_p.S378S	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	410					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TGCCTTCTTCAAGCTGGTCAT	0.507			A		Hodgkin Lymphoma																																	dbGAP		Dom	yes		2	2p13-p12	5966	v-rel reticuloendotheliosis viral oncogene homolog (avian)		L	0													105.0	99.0	101.0					2																	61149040		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1230A>G	2.37:g.61149040A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RU2|Q2PNZ7|Q6LDY0	Silent	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.S410	ENST00000295025.8	37	c.1230	CCDS1864.1	2																																																																																			REL	-	NULL	ENSG00000162924		0.507	REL-001	KNOWN	basic|CCDS	protein_coding	REL	HGNC	protein_coding	OTTHUMT00000251576.3	59	0.00	0	A	NM_002908		61149040	61149040	+1	no_errors	ENST00000295025	ensembl	human	known	69_37n	silent	33	15.38	6	SNP	0.964	G
SCN5A	6331	genome.wustl.edu	37	3	38592337	38592337	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr3:38592337C>T	ENST00000333535.4	-	28	5675	c.5526G>A	c.(5524-5526)atG>atA	p.M1842I	SCN5A_ENST00000451551.2_Missense_Mutation_p.M1788I|SCN5A_ENST00000413689.1_Missense_Mutation_p.M1842I|SCN5A_ENST00000423572.2_Missense_Mutation_p.M1841I|SCN5A_ENST00000414099.2_Missense_Mutation_p.M1824I|SCN5A_ENST00000455624.2_Missense_Mutation_p.M1809I|SCN5A_ENST00000443581.1_Missense_Mutation_p.M1841I|SCN5A_ENST00000425664.1_Missense_Mutation_p.M1824I|SCN5A_ENST00000450102.2_Missense_Mutation_p.M1788I|SCN5A_ENST00000464652.1_5'Flank|SCN5A_ENST00000449557.2_Missense_Mutation_p.M1788I			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1842	Interaction with FGF13.				AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCCACTCACCATGGGCAGGT	0.557																																						dbGAP											0													99.0	106.0	104.0					3																	38592337		2123	4232	6355	-	-	-	SO:0001583	missense	0			AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.5526G>A	3.37:g.38592337C>T	ENSP00000328968:p.Met1842Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu	p.M1842I	ENST00000333535.4	37	c.5526	CCDS46796.1	3	.	.	.	.	.	.	.	.	.	.	C	16.93	3.258281	0.59321	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.95756	-3.69;-3.72;-3.71;-3.8;-3.72;-3.69;-3.72;-3.78;-3.8;-3.8	4.82	4.82	0.62117	.	0.041187	0.85682	D	0.000000	D	0.95921	0.8672	L	0.33624	1.015	0.80722	D	1	B;P;B;B;B;B	0.35456	0.008;0.502;0.046;0.112;0.101;0.179	B;P;B;B;B;B	0.56563	0.021;0.801;0.149;0.174;0.264;0.325	D	0.94379	0.7603	10	0.30078	T	0.28	.	18.0868	0.89460	0.0:1.0:0.0:0.0	.	1788;1809;1824;1842;1841;1842	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	I	1824;1841;1842;1788;1841;1824;1842;1809;1788;1788	ENSP00000398962:M1824I;ENSP00000398266:M1841I;ENSP00000410257:M1842I;ENSP00000388797:M1788I;ENSP00000397915:M1841I;ENSP00000416634:M1824I;ENSP00000328968:M1842I;ENSP00000399524:M1809I;ENSP00000403355:M1788I;ENSP00000413996:M1788I	ENSP00000328968:M1842I	M	-	3	0	SCN5A	38567341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.931000	0.70113	2.504000	0.84457	0.563000	0.77884	ATG	SCN5A	-	NULL	ENSG00000183873		0.557	SCN5A-014	KNOWN	basic|CCDS	protein_coding	SCN5A	HGNC	protein_coding	OTTHUMT00000377958.1	66	0.00	0	C	NM_198056		38592337	38592337	-1	no_errors	ENST00000333535	ensembl	human	known	69_37n	missense	75	12.79	11	SNP	1.000	T
SLC16A2	6567	genome.wustl.edu	37	X	73751293	73751293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chrX:73751293C>T	ENST00000587091.1	+	6	1702	c.1525C>T	c.(1525-1527)Cag>Tag	p.Q509*	SLC16A2_ENST00000276033.5_Nonsense_Mutation_p.Q583*	NM_006517.4	NP_006508.2	P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	509					monocarboxylic acid transport (GO:0015718)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)|transporter activity (GO:0005215)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					L-Leucine(DB00149)|L-Tryptophan(DB00150)|L-Tyrosine(DB00135)|Levothyroxine(DB00451)|Liotrix(DB01583)|Pyruvic acid(DB00119)	CAAGAAAGAGCAGAGAGATTC	0.547																																						dbGAP											0													106.0	92.0	96.0					X																	73751293		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS14426.1, CCDS14426.2	Xq13.2	2013-05-22	2012-03-20		ENSG00000147100	ENSG00000147100		"""Solute carriers"""	10923	protein-coding gene	gene with protein product		300095	"""solute carrier family 16 (monocarboxylic acid transporters), member 2 (putative transporter)"", ""Allan-Herndon-Dudley syndrome"", ""solute carrier family 16 (monocarboxylic acid transporters), member 2"", ""mental retardation, X-linked 22"", ""solute carrier family 16, member 2 (monocarboxylic acid transporter 8)"""	DXS128, AHDS, MRX22		7981683, 12871948, 15889350	Standard	NM_006517		Approved	XPCT, MCT8, MCT7	uc031tjy.1	P36021	OTTHUMG00000021857	ENST00000587091.1:c.1525C>T	X.37:g.73751293C>T	ENSP00000465734:p.Gln509*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z797	Nonsense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Q583*	ENST00000587091.1	37	c.1747	CCDS14426.2	X	.	.	.	.	.	.	.	.	.	.	C	42	9.436428	0.99171	.	.	ENSG00000147100	ENST00000276033	.	.	.	5.3	4.39	0.52855	.	0.495923	0.20093	N	0.099401	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	11.6258	0.51145	0.1267:0.7339:0.1393:0.0	.	.	.	.	X	583	.	ENSP00000276033:Q583X	Q	+	1	0	SLC16A2	73668018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.486000	0.35530	2.210000	0.71456	0.529000	0.55759	CAG	SLC16A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000147100		0.547	SLC16A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A2	HGNC	protein_coding	OTTHUMT00000057266.3	60	0.00	0	C			73751293	73751293	+1	no_errors	ENST00000276033	ensembl	human	known	69_37n	nonsense	64	20.99	17	SNP	0.995	T
SRCAP	10847	genome.wustl.edu	37	16	30749899	30749899	+	Silent	SNP	A	A	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr16:30749899A>T	ENST00000262518.4	+	34	8923	c.8538A>T	c.(8536-8538)ggA>ggT	p.G2846G	SRCAP_ENST00000344771.4_Silent_p.G2688G|RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000395059.2_Silent_p.G2784G	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2846	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATGGAGACGGAGCACTGCTCG	0.627																																						dbGAP											0													48.0	48.0	48.0					16																	30749899		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8538A>T	16.37:g.30749899A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.G2846	ENST00000262518.4	37	c.8538	CCDS10689.2	16																																																																																			SRCAP	-	NULL	ENSG00000080603		0.627	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	21	0.00	0	A	NM_006662		30749899	30749899	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	silent	11	38.89	7	SNP	0.421	T
SRSF11	9295	genome.wustl.edu	37	1	70716188	70716188	+	Splice_Site	SNP	T	T	C			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr1:70716188T>C	ENST00000370950.3	+	12	1339		c.e12+2		SRSF11_ENST00000370949.1_Splice_Site|SRSF11_ENST00000405432.1_Splice_Site|SRSF11_ENST00000370951.1_Splice_Site|SRSF11_ENST00000484162.1_Splice_Site			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						GATGTAAAAGTATGTTTACAA	0.318																																						dbGAP											0													90.0	98.0	95.0					1																	70716188		2203	4298	6501	-	-	-	SO:0001630	splice_region_variant	0			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1257+2T>C	1.37:g.70716188T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T758|Q8IWE6	Splice_Site	SNP	-	e11+2	ENST00000370950.3	37	c.1257+2	CCDS647.1	1	.	.	.	.	.	.	.	.	.	.	T	16.35	3.097202	0.56075	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000370949	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2886	0.73849	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SRSF11	70488776	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.690000	0.74567	2.153000	0.67306	0.460000	0.39030	.	SRSF11	-	-	ENSG00000116754		0.318	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRSF11	HGNC	protein_coding	OTTHUMT00000025889.1	57	0.00	0	T	NM_004768	Intron	70716188	70716188	+1	no_errors	ENST00000370950	ensembl	human	known	69_37n	splice_site	56	15.15	10	SNP	1.000	C
TAF9	6880	genome.wustl.edu	37	5	68661327	68661327	+	Missense_Mutation	SNP	C	C	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr5:68661327C>A	ENST00000328663.4	-	3	704	c.238G>T	c.(238-240)Gat>Tat	p.D80Y	TAF9_ENST00000506736.1_Missense_Mutation_p.D80Y|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000217893.5_Missense_Mutation_p.D80Y|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron	NM_001015892.1	NP_001015892.1	Q16594	TAF9_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	80					cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of cell growth (GO:0030307)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|response to interleukin-1 (GO:0070555)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|pre-snoRNP complex (GO:0070761)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	activating transcription factor binding (GO:0033613)|C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		AAAGACTGATCAGCGCGGCAC	0.418																																						dbGAP											0													96.0	95.0	95.0					5																	68661327		2203	4300	6503	-	-	-	SO:0001583	missense	0			U21858	CCDS4001.1, CCDS4002.1, CCDS43324.1	5q13.2	2013-09-26	2002-08-29	2001-12-07	ENSG00000085231	ENSG00000085231			11542	protein-coding gene	gene with protein product		600822	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, G, 32kD"""	TAF2G		10191103, 15630091, 16079131	Standard	NM_001015892		Approved	TAFII31, TAFII32, TAFIID32, MGC5067, CGI-137, MGC1603, MGC3647, AD-004	uc003jwa.3	Q16594	OTTHUMG00000099359	ENST00000328663.4:c.238G>T	5.37:g.68661327C>A	ENSP00000370193:p.Asp80Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWA3|Q5U0D1|Q9BTS1	Missense_Mutation	SNP	pfam_TFIID-31,pfam_BTP,superfamily_Histone-fold	p.D80Y	ENST00000328663.4	37	c.238	CCDS4002.1	5	.	.	.	.	.	.	.	.	.	.	C	23.1	4.371348	0.82573	.	.	ENSG00000085231	ENST00000506736;ENST00000328663;ENST00000217893;ENST00000503245;ENST00000509462;ENST00000504109;ENST00000512152;ENST00000508954	T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.69	5.69	0.88448	Histone-fold (1);	0.000000	0.85682	D	0.000000	T	0.67078	0.2855	M	0.81497	2.545	0.80722	D	1	P	0.48407	0.91	P	0.55667	0.781	T	0.70263	-0.4920	10	0.87932	D	0	-9.0452	17.6752	0.88228	0.0:1.0:0.0:0.0	.	80	Q16594	TAF9_HUMAN	Y	80	ENSP00000421873:D80Y;ENSP00000370193:D80Y;ENSP00000217893:D80Y;ENSP00000425944:D80Y;ENSP00000427343:D80Y;ENSP00000426283:D80Y;ENSP00000425798:D80Y;ENSP00000427617:D80Y	ENSP00000217893:D80Y	D	-	1	0	TAF9	68697083	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.204000	0.77872	2.860000	0.98153	0.655000	0.94253	GAT	TAF9	-	pfam_TFIID-31,superfamily_Histone-fold	ENSG00000085231		0.418	TAF9-201	KNOWN	basic|CCDS	protein_coding	TAF9	HGNC	protein_coding	OTTHUMT00000216803.1	59	0.00	0	C	NM_003187		68661327	68661327	-1	no_errors	ENST00000217893	ensembl	human	known	69_37n	missense	58	22.67	17	SNP	1.000	A
TLR3	7098	genome.wustl.edu	37	4	187004711	187004711	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr4:187004711C>T	ENST00000296795.3	+	4	1975	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	TLR3_ENST00000504367.1_Missense_Mutation_p.S347F	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	624					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTCATAACATCCGTTGAGAAG	0.388																																						dbGAP											0													75.0	78.0	77.0					4																	187004711		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1871C>T	4.37:g.187004711C>T	ENSP00000296795:p.Ser624Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.S624F	ENST00000296795.3	37	c.1871	CCDS3846.1	4	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512268	0.27036	.	.	ENSG00000164342	ENST00000296795;ENST00000542020;ENST00000504367	T;T	0.26957	1.7;1.7	5.68	5.68	0.88126	.	0.382209	0.30185	N	0.010215	T	0.44371	0.1290	L	0.45051	1.395	0.20638	N	0.999875	D	0.89917	1.0	D	0.80764	0.994	T	0.29518	-1.0009	10	0.72032	D	0.01	.	16.085	0.81038	0.0:0.8662:0.1338:0.0	.	624	O15455	TLR3_HUMAN	F	624;624;347	ENSP00000296795:S624F;ENSP00000423684:S347F	ENSP00000296795:S624F	S	+	2	0	TLR3	187241705	0.088000	0.21588	0.922000	0.36590	0.136000	0.21042	2.564000	0.45931	2.687000	0.91594	0.557000	0.71058	TCC	TLR3	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000164342		0.388	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR3	HGNC	protein_coding	OTTHUMT00000360313.4	41	0.00	0	C			187004711	187004711	+1	no_errors	ENST00000296795	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	0.032	T
TP53	7157	genome.wustl.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr17:7578413C>T	ENST00000269305.4	-	5	706	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000420246.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM070299	TP53	M							51.0	51.0	51.0					17																	7578413		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>A	17.37:g.7578413C>T	ENSP00000269305:p.Val173Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V173M	ENST00000269305.4	37	c.517	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408040	0.83340	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99860	-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25;-7.25	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;0.997;0.999;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.988;0.999;1.0;0.978;0.99;1.0	D	0.96586	0.9434	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173M;ENSP00000352610:V173M;ENSP00000269305:V173M;ENSP00000398846:V173M;ENSP00000391127:V173M;ENSP00000391478:V173M;ENSP00000425104:V41M;ENSP00000423862:V80M	ENSP00000269305:V173M	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	23	0.00	0	C	NM_000546		7578413	7578413	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	27	27.03	10	SNP	0.996	T
TSGA13	114960	genome.wustl.edu	37	7	130368439	130368439	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr7:130368439C>G	ENST00000456951.1	-	4	946	c.95G>C	c.(94-96)aGc>aCc	p.S32T	TSGA13_ENST00000356588.3_Missense_Mutation_p.S32T			Q96PP4	TSG13_HUMAN	testis specific, 13	32										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TACCTCTTTGCTATTGACAAC	0.368																																						dbGAP											0													208.0	181.0	190.0					7																	130368439		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.95G>C	7.37:g.130368439C>G	ENSP00000406047:p.Ser32Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSC9	Missense_Mutation	SNP	NULL	p.S32T	ENST00000456951.1	37	c.95	CCDS5824.1	7	.	.	.	.	.	.	.	.	.	.	C	5.341	0.248276	0.10130	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588;ENST00000443954;ENST00000438346	.	.	.	4.52	-8.45	0.00946	.	2.548760	0.01875	N	0.037519	T	0.23965	0.0580	N	0.19112	0.55	0.09310	N	1	B	0.16166	0.016	B	0.18561	0.022	T	0.10543	-1.0625	9	0.32370	T	0.25	5.9062	6.2827	0.21017	0.1011:0.1354:0.1003:0.6633	.	32	Q96PP4	TSG13_HUMAN	T	32	.	ENSP00000348996:S32T	S	-	2	0	TSGA13	130018979	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.342000	0.02645	-2.201000	0.00746	-0.857000	0.03018	AGC	TSGA13	-	NULL	ENSG00000213265		0.368	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA13	HGNC	protein_coding	OTTHUMT00000337997.1	113	0.00	0	C	NM_052933		130368439	130368439	-1	no_errors	ENST00000356588	ensembl	human	known	69_37n	missense	124	21.52	34	SNP	0.000	G
TTN	7273	genome.wustl.edu	37	2	179440959	179440959	+	Missense_Mutation	SNP	C	C	G			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr2:179440959C>G	ENST00000591111.1	-	276	65201	c.64977G>C	c.(64975-64977)caG>caC	p.Q21659H	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q14427H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Q14235H|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q20732H|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Q23300H|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q14360H|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21659	Fibronectin type-III 57. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACAACGAACTGAGTGATTC	0.468																																						dbGAP											0													73.0	72.0	72.0					2																	179440959		1903	4129	6032	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64977G>C	2.37:g.179440959C>G	ENSP00000465570:p.Gln21659His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q20732H	ENST00000591111.1	37	c.62196		2	.	.	.	.	.	.	.	.	.	.	C	9.163	1.019092	0.19355	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.87	-0.0811	0.13704	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42698	0.1214	N	0.25060	0.705	0.34086	D	0.660157	B;B;B;B	0.30793	0.295;0.295;0.295;0.295	B;B;B;B	0.38842	0.169;0.169;0.283;0.207	T	0.55515	-0.8129	9	0.87932	D	0	.	12.0105	0.53284	0.0:0.5719:0.0:0.4281	.	14235;14360;14427;21659	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	20732;14235;14427;14360;14233	ENSP00000343764:Q20732H;ENSP00000434586:Q14235H;ENSP00000340554:Q14427H;ENSP00000352154:Q14360H	ENSP00000340554:Q14427H	Q	-	3	2	TTN	179149205	0.823000	0.29233	0.662000	0.29724	0.934000	0.57294	-0.043000	0.12043	0.037000	0.15575	0.655000	0.94253	CAG	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	44	0.00	0	C	NM_133378		179440959	179440959	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	45	25.00	15	SNP	0.914	G
TTN	7273	genome.wustl.edu	37	2	179587200	179587200	+	Silent	SNP	G	G	T			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr2:179587200G>T	ENST00000591111.1	-	75	21587	c.21363C>A	c.(21361-21363)ctC>ctA	p.L7121L	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.L6194L|TTN_ENST00000589042.1_Silent_p.L7438L|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12697	Ig-like 53.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCGACAAGTGAGTGTAACAG	0.413																																						dbGAP											0													98.0	95.0	96.0					2																	179587200		1872	4117	5989	-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21363C>A	2.37:g.179587200G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L6194	ENST00000591111.1	37	c.18582		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	22	0.00	0	G	NM_133378		179587200	179587200	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	25	30.56	11	SNP	0.980	T
UNC13D	201294	genome.wustl.edu	37	17	73832707	73832707	+	Missense_Mutation	SNP	G	G	A			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr17:73832707G>A	ENST00000207549.4	-	14	1623	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	UNC13D_ENST00000412096.2_Missense_Mutation_p.S415F	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	415	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGAAGACAGAGCGGAACCT	0.632									Familial Hemophagocytic Lymphohistiocytosis																													dbGAP											0													52.0	58.0	56.0					17																	73832707		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1244C>T	17.37:g.73832707G>A	ENSP00000207549:p.Ser415Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DWG9|Q9H7K5	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S415F	ENST00000207549.4	37	c.1244	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634340	0.47049	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.70399	-0.47;-0.48	4.34	4.34	0.51931	.	0.517157	0.20044	N	0.100450	T	0.67088	0.2856	L	0.40543	1.245	0.09310	N	1	D;D;D	0.57571	0.98;0.976;0.959	P;P;P	0.52957	0.521;0.714;0.504	T	0.61337	-0.7083	10	0.72032	D	0.01	-12.0728	5.1407	0.14957	0.2607:0.0:0.7393:0.0	.	415;415;415	B4DTQ6;Q70J99-3;Q70J99	.;.;UN13D_HUMAN	F	415	ENSP00000207549:S415F;ENSP00000388093:S415F	ENSP00000207549:S415F	S	-	2	0	UNC13D	71344302	0.608000	0.26966	0.388000	0.26195	0.652000	0.38707	3.094000	0.50227	2.251000	0.74343	0.561000	0.74099	TCT	UNC13D	-	NULL	ENSG00000092929		0.632	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	21	0.00	0	G	XM_113950		73832707	73832707	-1	no_errors	ENST00000412096	ensembl	human	known	69_37n	missense	26	25.71	9	SNP	0.008	A
ZNF85	7639	genome.wustl.edu	37	19	21132063	21132063	+	Missense_Mutation	SNP	A	A	G			TCGA-C8-A26X-01A-31D-A16D-09	TCGA-C8-A26X-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	a5bc549a-1a1f-41b4-b548-14c448fed6c7	2b18b271-9411-4e2a-8f37-1e9cd53bef62	g.chr19:21132063A>G	ENST00000328178.8	+	4	856	c.743A>G	c.(742-744)cAt>cGt	p.H248R	ZNF85_ENST00000601023.1_Missense_Mutation_p.H189R|ZNF85_ENST00000345030.6_Missense_Mutation_p.H215R	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	248					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CTTATTAAACATAAGAAAATT	0.343																																						dbGAP											0													25.0	29.0	28.0					19																	21132063		2160	4271	6431	-	-	-	SO:0001583	missense	0			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.743A>G	19.37:g.21132063A>G	ENSP00000329793:p.His248Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H248R	ENST00000328178.8	37	c.743	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	10.64	1.406465	0.25378	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	D;D	0.86865	-2.18;-2.18	1.35	1.35	0.21983	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94049	0.8093	H	0.95574	3.69	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.75484	0.986;0.982;0.968	D	0.92444	0.5964	9	0.87932	D	0	.	7.5498	0.27790	1.0:0.0:0.0:0.0	.	215;189;248	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	R	248;215;123	ENSP00000329793:H248R;ENSP00000342340:H215R	ENSP00000329793:H248R	H	+	2	0	ZNF85	20923903	0.991000	0.36638	0.052000	0.19188	0.045000	0.14185	4.622000	0.61240	0.569000	0.29329	0.379000	0.24179	CAT	ZNF85	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105750		0.343	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	18	0.00	0	A	NM_003429		21132063	21132063	+1	no_errors	ENST00000328178	ensembl	human	known	69_37n	missense	28	24.32	9	SNP	0.980	G
