#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
ADAMTSL3	57188	genome.wustl.edu	37	15	84592772	84592772	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr15:84592772C>T	ENST00000286744.5	+	17	2328	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P702S	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	702						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P702T(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TAACACAGAGCCCTGTCCCCC	0.542																																						dbGAP											1	Substitution - Missense(1)	ovary(1)											105.0	73.0	84.0					15																	84592772		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2104C>T	15.37:g.84592772C>T	ENSP00000286744:p.Pro702Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.P702S	ENST00000286744.5	37	c.2104	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091798	0.76756	.	.	ENSG00000156218	ENST00000286744	T	0.62105	0.05	5.25	5.25	0.73442	.	0.506617	0.20737	N	0.086613	T	0.75613	0.3873	L	0.58428	1.81	0.51012	D	0.9999	D;D	0.69078	0.997;0.985	D;P	0.70016	0.967;0.756	T	0.76971	-0.2761	10	0.62326	D	0.03	.	15.773	0.78187	0.0:1.0:0.0:0.0	.	702;702	P82987-2;P82987	.;ATL3_HUMAN	S	702	ENSP00000286744:P702S	ENSP00000286744:P702S	P	+	1	0	ADAMTSL3	82383776	0.984000	0.35163	0.995000	0.50966	0.992000	0.81027	2.599000	0.46231	2.451000	0.82905	0.637000	0.83480	CCC	ADAMTSL3	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000156218		0.542	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	29	0.00	0	C	NM_207517		84592772	84592772	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	missense	7	38.46	5	SNP	0.994	T
AKTIP	64400	genome.wustl.edu	37	16	53529185	53529185	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr16:53529185C>T	ENST00000394657.7	-	4	476	c.302G>A	c.(301-303)cGc>cAc	p.R101H	AKTIP_ENST00000300245.4_Missense_Mutation_p.R101H|AKTIP_ENST00000570004.1_Missense_Mutation_p.R101H	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein	101					apoptotic process (GO:0006915)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|protein transport (GO:0015031)	FHF complex (GO:0070695)|plasma membrane (GO:0005886)	acid-amino acid ligase activity (GO:0016881)			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TAATGCAGAGCGATAAGATGG	0.383																																						dbGAP											0													95.0	86.0	89.0					16																	53529185		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK023320	CCDS10749.1	16q12.2	2010-01-14	2007-01-16	2007-01-16	ENSG00000166971	ENSG00000166971		"""Ubiquitin-conjugating enzymes E2"""	16710	protein-coding gene	gene with protein product		608483	"""fused toes (mouse) homolog"", ""fused toes homolog (mouse)"""	FTS		7818539, 8626685	Standard	XM_005256094		Approved	FLJ13258	uc002ehl.3	Q9H8T0	OTTHUMG00000133199	ENST00000394657.7:c.302G>A	16.37:g.53529185C>T	ENSP00000378152:p.Arg101His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q503B1|Q53H38	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.R101H	ENST00000394657.7	37	c.302	CCDS10749.1	16	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518413	0.44763	.	.	ENSG00000166971	ENST00000394657;ENST00000300245	T;T	0.71934	-0.61;-0.61	5.42	3.49	0.39957	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.200927	0.51477	N	0.000081	T	0.46367	0.1389	N	0.04880	-0.145	0.53005	D	0.99996	B;P;B	0.47409	0.019;0.895;0.121	B;B;B	0.39068	0.018;0.289;0.069	T	0.49380	-0.8946	10	0.46703	T	0.11	-7.7035	10.4129	0.44305	0.0:0.7893:0.0:0.2107	.	101;101;101	B4E0S4;Q9H8T0-2;Q9H8T0	.;.;AKTIP_HUMAN	H	101	ENSP00000378152:R101H;ENSP00000300245:R101H	ENSP00000300245:R101H	R	-	2	0	AKTIP	52086686	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	2.497000	0.45354	0.789000	0.33779	-0.244000	0.11960	CGC	AKTIP	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000166971		0.383	AKTIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKTIP	HGNC	protein_coding	OTTHUMT00000256909.4	15	0.00	0	C	NM_022476		53529185	53529185	-1	no_errors	ENST00000300245	ensembl	human	known	69_37n	missense	15	53.12	17	SNP	0.999	T
ANKRD36	375248	genome.wustl.edu	37	2	97815094	97815094	+	Missense_Mutation	SNP	C	C	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr2:97815094C>A	ENST00000461153.2	+	12	1341	c.1097C>A	c.(1096-1098)tCt>tAt	p.S366Y	ANKRD36_ENST00000420699.2_Missense_Mutation_p.S366Y			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	366										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCTTTGGAATCTGAGGTAGAG	0.353																																						dbGAP											0													52.0	41.0	44.0					2																	97815094		692	1591	2283	-	-	-	SO:0001583	missense	0			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.1097C>A	2.37:g.97815094C>A	ENSP00000419530:p.Ser366Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S366Y	ENST00000461153.2	37	c.1097	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	10.26	1.302214	0.23736	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.22336	1.96;1.96	1.4	-0.879	0.10613	.	.	.	.	.	T	0.06416	0.0165	N	0.08118	0	0.09310	N	1	P	0.50156	0.932	B	0.31869	0.137	T	0.26503	-1.0101	9	0.87932	D	0	.	1.8755	0.03217	0.3202:0.4508:0.0:0.229	.	366	A6QL64	AN36A_HUMAN	Y	366	ENSP00000419530:S366Y;ENSP00000391950:S366Y	ENSP00000391950:S366Y	S	+	2	0	ANKRD36	97178821	0.001000	0.12720	0.022000	0.16811	0.095000	0.18619	-0.212000	0.09319	-0.282000	0.09128	0.184000	0.17185	TCT	ANKRD36	-	NULL	ENSG00000135976		0.353	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	47	0.00	0	C			97815094	97815094	+1	no_errors	ENST00000420699	ensembl	human	known	69_37n	missense	54	15.62	10	SNP	0.033	A
BCOR	54880	genome.wustl.edu	37	X	39922993	39922993	+	Missense_Mutation	SNP	G	G	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chrX:39922993G>T	ENST00000378444.4	-	8	3943	c.3715C>A	c.(3715-3717)Cag>Aag	p.Q1239K	BCOR_ENST00000342274.4_Missense_Mutation_p.Q1205K|BCOR_ENST00000378463.1_Missense_Mutation_p.Q82K|BCOR_ENST00000397354.3_Missense_Mutation_p.Q1205K|BCOR_ENST00000378455.4_Missense_Mutation_p.Q1187K	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1239					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGAGTGGCCTGGGTCACTTCC	0.557			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															dbGAP		Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													150.0	123.0	132.0					X																	39922993		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3715C>A	X.37:g.39922993G>T	ENSP00000367705:p.Gln1239Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q1239K	ENST00000378444.4	37	c.3715	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120277	0.37436	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38	5.52	4.64	0.57946	.	.	.	.	.	T	0.09158	0.0226	N	0.14661	0.345	0.28821	N	0.89771	B;P;B	0.35745	0.106;0.518;0.168	B;B;B	0.29785	0.069;0.08;0.107	T	0.06807	-1.0806	9	0.52906	T	0.07	-21.3623	7.4258	0.27098	0.0:0.3525:0.5161:0.1313	.	1187;1239;1205	Q6W2J9-4;Q6W2J9;Q6W2J9-2	.;BCOR_HUMAN;.	K	109;82;1187;1205;1239;1205;1205	ENSP00000408006:Q109K;ENSP00000367724:Q82K;ENSP00000367716:Q1187K;ENSP00000380512:Q1205K;ENSP00000367705:Q1239K;ENSP00000345923:Q1205K;ENSP00000384485:Q1205K	ENSP00000345923:Q1205K	Q	-	1	0	BCOR	39807937	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	4.069000	0.57541	2.317000	0.78254	0.529000	0.55759	CAG	BCOR	-	NULL	ENSG00000183337		0.557	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	81	0.00	0	G	NM_017745		39922993	39922993	-1	no_errors	ENST00000378444	ensembl	human	known	69_37n	missense	54	29.87	23	SNP	1.000	T
BRD7	29117	genome.wustl.edu	37	16	50357607	50357607	+	Missense_Mutation	SNP	A	A	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr16:50357607A>C	ENST00000394688.3	-	12	1493	c.1334T>G	c.(1333-1335)aTc>aGc	p.I445S	BRD7_ENST00000394689.2_Missense_Mutation_p.I445S			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	445					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AAACTCATGGATGCTGCAAGA	0.453																																						dbGAP											0													80.0	68.0	72.0					16																	50357607		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1334T>G	16.37:g.50357607A>C	ENSP00000378180:p.Ile445Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.I445S	ENST00000394688.3	37	c.1334	CCDS10742.1	16	.	.	.	.	.	.	.	.	.	.	A	25.1	4.601852	0.87055	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.53423	0.62;0.62	5.53	5.53	0.82687	.	0.193084	0.46442	D	0.000292	T	0.61986	0.2391	M	0.74881	2.28	0.80722	D	1	P;P	0.43885	0.82;0.785	P;P	0.51135	0.66;0.53	T	0.66976	-0.5787	10	0.87932	D	0	-34.5056	15.645	0.77042	1.0:0.0:0.0:0.0	.	445;445	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	S	445	ENSP00000378180:I445S;ENSP00000378181:I445S	ENSP00000378180:I445S	I	-	2	0	BRD7	48915108	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.678000	0.91211	2.096000	0.63516	0.533000	0.62120	ATC	BRD7	-	pfam_DUF3512	ENSG00000166164		0.453	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BRD7	HGNC	protein_coding	OTTHUMT00000256874.3	26	0.00	0	A	NM_013263		50357607	50357607	-1	no_errors	ENST00000394689	ensembl	human	known	69_37n	missense	24	31.43	11	SNP	1.000	C
C6orf1	221491	genome.wustl.edu	37	6	34214299	34214299	+	Missense_Mutation	SNP	A	A	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr6:34214299A>G	ENST00000476320.1	-	5	1154	c.472T>C	c.(472-474)Ttt>Ctt	p.F158L	C6orf1_ENST00000481533.1_Missense_Mutation_p.F158L|C6orf1_ENST00000468145.1_Missense_Mutation_p.F158L|C6orf1_ENST00000394990.4_Missense_Mutation_p.F158L|C6orf1_ENST00000413013.2_Missense_Mutation_p.F138L|C6orf1_ENST00000335352.3_Missense_Mutation_p.F138L	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	158						extracellular region (GO:0005576)				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		GGCTAGAGAAAGCAAAGGTGT	0.557																																						dbGAP											0													31.0	34.0	33.0					6																	34214299		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY062936	CCDS4790.1, CCDS75433.1	6p21.3	2011-12-12			ENSG00000186577	ENSG00000186577			1340	protein-coding gene	gene with protein product		611419				10036196	Standard	NM_178508		Approved	LBH, MGC57858	uc003ojh.3	Q86T20	OTTHUMG00000159754	ENST00000476320.1:c.472T>C	6.37:g.34214299A>G	ENSP00000417604:p.Phe158Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K299	Missense_Mutation	SNP	NULL	p.F158L	ENST00000476320.1	37	c.472	CCDS4790.1	6	.	.	.	.	.	.	.	.	.	.	A	12.92	2.081786	0.36758	.	.	ENSG00000186577	ENST00000476320;ENST00000335352;ENST00000394990;ENST00000481533;ENST00000413013;ENST00000468145	T;T;T;T;T;T	0.35605	1.31;1.3;1.31;1.31;1.3;1.31	3.82	-2.32	0.06745	.	0.975226	0.08311	N	0.965388	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B	0.18013	0.025	B	0.16289	0.015	T	0.39860	-0.9593	10	0.87932	D	0	1.542	5.1511	0.15009	0.2614:0.0:0.5504:0.1882	.	158	Q86T20	CF001_HUMAN	L	158;138;158;158;138;158	ENSP00000417604:F158L;ENSP00000334260:F138L;ENSP00000378441:F158L;ENSP00000418062:F158L;ENSP00000387460:F138L;ENSP00000418884:F158L	ENSP00000334260:F138L	F	-	1	0	C6orf1	34322277	0.001000	0.12720	0.000000	0.03702	0.060000	0.15804	0.482000	0.22276	-0.339000	0.08401	-0.327000	0.08410	TTT	C6orf1	-	NULL	ENSG00000186577		0.557	C6orf1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf1	HGNC	protein_coding	OTTHUMT00000357175.1	13	0.00	0	A	NM_178508		34214299	34214299	-1	no_errors	ENST00000394990	ensembl	human	known	69_37n	missense	18	21.74	5	SNP	0.000	G
CHAF1A	10036	genome.wustl.edu	37	19	4422644	4422644	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr19:4422644G>A	ENST00000301280.5	+	5	1200	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	367	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAAGCGGGCCAAGGAGGA	0.537								Chromatin Structure																														dbGAP											0													77.0	78.0	77.0					19																	4422644		2203	4299	6502	-	-	-	SO:0001583	missense	0			U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1099G>A	19.37:g.4422644G>A	ENSP00000301280:p.Ala367Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NXG5|Q7Z7K3|Q9UJY8	Missense_Mutation	SNP	pfam_CAF1A,pfam_CAF-1_p150	p.A367T	ENST00000301280.5	37	c.1099	CCDS32875.1	19	.	.	.	.	.	.	.	.	.	.	G	19.24	3.790250	0.70337	.	.	ENSG00000167670	ENST00000344143;ENST00000535117;ENST00000301280	T	0.08458	3.09	5.22	5.22	0.72569	.	.	.	.	.	T	0.28732	0.0712	M	0.69823	2.125	0.53688	D	0.999976	D	0.89917	1.0	D	0.80764	0.994	T	0.00998	-1.1486	9	0.87932	D	0	-37.5572	15.9141	0.79496	0.0:0.0:1.0:0.0	.	367	Q13111	CAF1A_HUMAN	T	367	ENSP00000301280:A367T	ENSP00000301280:A367T	A	+	1	0	CHAF1A	4373644	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	4.746000	0.62133	2.437000	0.82529	0.563000	0.77884	GCC	CHAF1A	-	NULL	ENSG00000167670		0.537	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAF1A	HGNC	protein_coding	OTTHUMT00000458310.2	31	0.00	0	G	NM_005483		4422644	4422644	+1	no_errors	ENST00000301280	ensembl	human	known	69_37n	missense	31	20.51	8	SNP	0.999	A
CROCC	9696	genome.wustl.edu	37	1	17267302	17267302	+	Intron	SNP	A	A	G	rs6586577	byFrequency	TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr1:17267302A>G	ENST00000375541.5	+	13	1877				CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		gctcactgtaacctggaactc	0.527																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1808+714A>G	1.37:g.17267302A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000375541.5	37	NULL	CCDS30616.1	1																																																																																			CROCC	-	-	ENSG00000058453		0.527	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	9	0.00	0	A	NM_014675		17267302	17267302	+1	no_errors	ENST00000466256	ensembl	human	known	69_37n	rna	18	21.74	5	SNP	0.124	G
CYP2C19	1557	genome.wustl.edu	37	10	96522607	96522607	+	Missense_Mutation	SNP	G	G	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr10:96522607G>T	ENST00000371321.3	+	1	227	c.145G>T	c.(145-147)Gat>Tat	p.D49Y	CYP2C19_ENST00000464755.1_Intron	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	49					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGATATTAAGGATGTCAGCAA	0.408																																						dbGAP											0													98.0	99.0	99.0					10																	96522607		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.145G>T	10.37:g.96522607G>T	ENSP00000360372:p.Asp49Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.D49Y	ENST00000371321.3	37	c.145	CCDS7436.1	10	.	.	.	.	.	.	.	.	.	.	G	3.987	-0.005305	0.07773	.	.	ENSG00000165841	ENST00000371321	T	0.68624	-0.34	4.16	-6.22	0.02058	.	34.007800	0.02253	U	0.066762	T	0.54581	0.1867	L	0.50333	1.59	0.09310	N	1	P	0.34546	0.456	B	0.29598	0.104	T	0.50406	-0.8832	10	0.51188	T	0.08	.	6.4825	0.22071	0.7207:0.1261:0.1531:0.0	.	49	P33261	CP2CJ_HUMAN	Y	49	ENSP00000360372:D49Y	ENSP00000360372:D49Y	D	+	1	0	CYP2C19	96512597	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.719000	0.01873	-1.523000	0.01767	0.405000	0.27470	GAT	CYP2C19	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000165841		0.408	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C19	HGNC	protein_coding	OTTHUMT00000049490.1	31	0.00	0	G	NM_000769		96522607	96522607	+1	no_errors	ENST00000371321	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	0.003	T
DPH2	1802	genome.wustl.edu	37	1	44437411	44437411	+	Silent	SNP	A	A	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr1:44437411A>G	ENST00000255108.3	+	4	1009	c.837A>G	c.(835-837)agA>agG	p.R279R	DPH2_ENST00000412950.2_Silent_p.R144R|DPH2_ENST00000396758.2_Intron|ATP6V0B_ENST00000472174.2_5'Flank	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	279					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGAGGGCCAGAGATGCCCGCG	0.627																																						dbGAP											0													50.0	53.0	52.0					1																	44437411		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.837A>G	1.37:g.44437411A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	p.R279	ENST00000255108.3	37	c.837	CCDS504.1	1																																																																																			DPH2	-	pfam_DPH1/DPH2,tigrfam_DPH1/DPH2,tigrfam_DHP2_eu	ENSG00000132768		0.627	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPH2	HGNC	protein_coding	OTTHUMT00000022832.1	45	0.00	0	A	NM_001384		44437411	44437411	+1	no_errors	ENST00000255108	ensembl	human	known	69_37n	silent	25	13.79	4	SNP	1.000	G
FAM124B	79843	genome.wustl.edu	37	2	225265995	225265995	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr2:225265995G>A	ENST00000409685.3	-	1	756	c.491C>T	c.(490-492)gCg>gTg	p.A164V	FAM124B_ENST00000389874.3_Missense_Mutation_p.A164V|FAM124B_ENST00000243806.2_Missense_Mutation_p.A164V	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	164										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		TTGCAAGGTCGCTTCTCTCTG	0.517																																						dbGAP											0													91.0	85.0	87.0					2																	225265995		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.491C>T	2.37:g.225265995G>A	ENSP00000386895:p.Ala164Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	NULL	p.A164V	ENST00000409685.3	37	c.491	CCDS46527.1	2	.	.	.	.	.	.	.	.	.	.	G	18.94	3.730725	0.69074	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.42900	0.96;0.96;0.96	5.64	3.84	0.44239	.	0.098645	0.64402	N	0.000001	T	0.24044	0.0582	L	0.39085	1.19	0.53688	D	0.999974	P;P	0.46142	0.873;0.58	B;B	0.35240	0.198;0.088	T	0.19289	-1.0310	10	0.02654	T	1	-18.3364	11.5482	0.50706	0.143:0.0:0.857:0.0	.	164;164	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	V	164	ENSP00000374524:A164V;ENSP00000386895:A164V;ENSP00000243806:A164V	ENSP00000243806:A164V	A	-	2	0	FAM124B	224974239	1.000000	0.71417	0.948000	0.38648	0.648000	0.38561	4.617000	0.61204	1.387000	0.46486	0.655000	0.94253	GCG	FAM124B	-	NULL	ENSG00000124019		0.517	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM124B	HGNC	protein_coding	OTTHUMT00000330873.1	26	0.00	0	G	NM_024785		225265995	225265995	-1	no_errors	ENST00000409685	ensembl	human	known	69_37n	missense	30	14.29	5	SNP	1.000	A
SPATA31D5P	347127	genome.wustl.edu	37	9	84533770	84533770	+	RNA	SNP	T	T	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr9:84533770T>A	ENST00000527857.1	+	0	3792					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AAGGACTTACTGACTCATGCC	0.517																																						dbGAP											0																																										-	-	-			0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84533770T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			FAM75D5	-	-	ENSG00000240632		0.517	SPATA31D5P-002	KNOWN	basic	processed_transcript	FAM75D5	HGNC	pseudogene	OTTHUMT00000052810.2	24	0.00	0	T	NR_026851		84533770	84533770	+1	no_errors	ENST00000527857	ensembl	human	known	69_37n	rna	22	21.43	6	SNP	0.631	A
FASN	2194	genome.wustl.edu	37	17	80046086	80046086	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr17:80046086C>G	ENST00000306749.2	-	17	2909	c.2691G>C	c.(2689-2691)aaG>aaC	p.K897N		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	897					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGGCCAGCGTCTTCCACACTA	0.652																																					Colon(59;314 1043 11189 28578 32273)	dbGAP											0													44.0	55.0	51.0					17																	80046086		2198	4298	6496	-	-	-	SO:0001583	missense	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.2691G>C	17.37:g.80046086C>G	ENSP00000304592:p.Lys897Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.K897N	ENST00000306749.2	37	c.2691	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064757	0.36470	.	.	ENSG00000169710	ENST00000306749	D	0.86562	-2.14	4.08	1.89	0.25635	.	0.220404	0.32655	N	0.005819	D	0.88890	0.6560	M	0.75264	2.295	0.31523	N	0.66219	D	0.67145	0.996	P	0.60609	0.877	D	0.85234	0.1034	10	0.49607	T	0.09	-20.605	2.846	0.05543	0.0:0.3739:0.2346:0.3914	.	897	P49327	FAS_HUMAN	N	897	ENSP00000304592:K897N	ENSP00000304592:K897N	K	-	3	2	FASN	77639375	0.977000	0.34250	0.290000	0.24890	0.130000	0.20726	0.478000	0.22212	0.933000	0.37291	0.462000	0.41574	AAG	FASN	-	smart_PKS_dehydratase	ENSG00000169710		0.652	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	72	0.00	0	C	NM_004104		80046086	80046086	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	missense	59	24.36	19	SNP	0.979	G
FMO3	2328	genome.wustl.edu	37	1	171083267	171083267	+	Silent	SNP	G	G	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr1:171083267G>C	ENST00000367755.4	+	7	1059	c.948G>C	c.(946-948)ggG>ggC	p.G316G	FMO3_ENST00000538429.1_Silent_p.G253G|FMO3_ENST00000392085.2_Silent_p.G316G|FMO3_ENST00000542847.1_Silent_p.G296G	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	316					drug metabolic process (GO:0017144)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	amino acid binding (GO:0016597)|flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)|trimethylamine monooxygenase activity (GO:0034899)			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Almotriptan(DB00918)|Cimetidine(DB00501)|Clozapine(DB00363)|Dapsone(DB00250)|Dasatinib(DB01254)|Olanzapine(DB00334)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TTGAGGATGGGACCATATTTG	0.438																																						dbGAP											0													155.0	140.0	145.0					1																	171083267		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC032016	CCDS1292.1	1q24.3	2013-10-01			ENSG00000007933	ENSG00000007933	2.6.1.16		3771	protein-coding gene	gene with protein product		136132				8486388, 9417913	Standard	NM_001002294		Approved		uc001ghh.3	P31513	OTTHUMG00000035505	ENST00000367755.4:c.948G>C	1.37:g.171083267G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R816|Q14854|Q8N5N5	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.G316	ENST00000367755.4	37	c.948	CCDS1292.1	1																																																																																			FMO3	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase	ENSG00000007933		0.438	FMO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO3	HGNC	protein_coding	OTTHUMT00000086219.1	61	0.00	0	G	NM_006894		171083267	171083267	+1	no_errors	ENST00000367755	ensembl	human	known	69_37n	silent	115	12.88	17	SNP	0.033	C
GPD2	2820	genome.wustl.edu	37	2	157358332	157358332	+	Intron	SNP	T	T	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr2:157358332T>G	ENST00000310454.6	+	3	646				GPD2_ENST00000540309.1_Intron|GPD2_ENST00000409674.1_Intron|GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Intron	NM_001083112.2	NP_001076581.2	P43304	GPDM_HUMAN	glycerol-3-phosphate dehydrogenase 2 (mitochondrial)						camera-type eye development (GO:0043010)|cellular lipid metabolic process (GO:0044255)|gluconeogenesis (GO:0006094)|glycerol catabolic process (GO:0019563)|glycerol-3-phosphate metabolic process (GO:0006072)|multicellular organism growth (GO:0035264)|small molecule metabolic process (GO:0044281)	glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity (GO:0052591)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						TGTAAAACTTTAAGAAGAGAA	0.328																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS2202.1	2q24.1	2013-01-10			ENSG00000115159	ENSG00000115159	1.1.1.8	"""EF-hand domain containing"""	4456	protein-coding gene	gene with protein product		138430					Standard	NM_001083112		Approved		uc002tzd.4	P43304	OTTHUMG00000131951	ENST00000310454.6:c.274+5605T>G	2.37:g.157358332T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4V0|B3KSA9|Q59FR1|Q9HAP9	RNA	SNP	-	NULL	ENST00000310454.6	37	NULL	CCDS2202.1	2																																																																																			GPD2	-	-	ENSG00000115159		0.328	GPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD2	HGNC	protein_coding	OTTHUMT00000254910.3	37	0.00	0	T			157358332	157358332	+1	no_errors	ENST00000495851	ensembl	human	known	69_37n	rna	39	30.36	17	SNP	0.005	G
GRID1	2894	genome.wustl.edu	37	10	87487739	87487739	+	Missense_Mutation	SNP	T	T	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr10:87487739T>C	ENST00000327946.7	-	10	1491	c.1406A>G	c.(1405-1407)gAt>gGt	p.D469G	GRID1_ENST00000536331.1_Missense_Mutation_p.D40G	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	469					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						ATCCAGGACATCTATGGAGAA	0.512										Multiple Myeloma(13;0.14)																												dbGAP											0													184.0	176.0	179.0					10																	87487739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1406A>G	10.37:g.87487739T>C	ENSP00000330148:p.Asp469Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D469G	ENST00000327946.7	37	c.1406	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	T	26.7	4.764109	0.89932	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.41400	1.0;1.0	5.55	5.55	0.83447	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.044661	0.85682	D	0.000000	T	0.64527	0.2606	M	0.93283	3.4	0.80722	D	1	P	0.39535	0.677	P	0.46917	0.531	T	0.73764	-0.3880	10	0.87932	D	0	.	14.853	0.70313	0.0:0.0:0.0:1.0	.	469	Q9ULK0	GRID1_HUMAN	G	469;40	ENSP00000330148:D469G;ENSP00000444455:D40G	ENSP00000330148:D469G	D	-	2	0	GRID1	87477719	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.026000	0.88783	2.109000	0.64355	0.491000	0.48974	GAT	GRID1	-	pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd	ENSG00000182771		0.512	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	30	0.00	0	T	XM_043613		87487739	87487739	-1	no_errors	ENST00000327946	ensembl	human	known	69_37n	missense	26	16.13	5	SNP	1.000	C
HNF4A	3172	genome.wustl.edu	37	20	43036108	43036108	+	Silent	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr20:43036108G>A	ENST00000316099.4	+	3	467	c.378G>A	c.(376-378)aaG>aaA	p.K126K	HNF4A_ENST00000609795.1_Silent_p.K104K|HNF4A_ENST00000415691.2_Silent_p.K126K|HNF4A_ENST00000316673.4_Silent_p.K104K|MIR3646_ENST00000578301.1_RNA|HNF4A_ENST00000443598.2_Silent_p.K126K|HNF4A_ENST00000457232.1_Silent_p.K104K	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	126					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CTGGCATGAAGAAGGAAGGTG	0.592																																					Colon(79;2 1269 8820 14841 52347)	dbGAP											0													67.0	57.0	61.0					20																	43036108		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.378G>A	20.37:g.43036108G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.K126	ENST00000316099.4	37	c.378	CCDS13330.1	20																																																																																			HNF4A	-	pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	ENSG00000101076		0.592	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HNF4A	HGNC	protein_coding	OTTHUMT00000079363.3	8	0.00	0	G			43036108	43036108	+1	no_errors	ENST00000316099	ensembl	human	known	69_37n	silent	14	33.33	7	SNP	1.000	A
KDM6A	7403	genome.wustl.edu	37	X	44833952	44833952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chrX:44833952delT	ENST00000377967.4	+	4	417	c.376delT	c.(376-378)tacfs	p.Y126fs	KDM6A_ENST00000543216.1_Frame_Shift_Del_p.Y126fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.Y126fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.Y126fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	126	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0(14)|p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACAGTCTGACTACTGGAAGGT	0.323			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	dbGAP		Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	21	No detectable mRNA/protein(14)|Whole gene deletion(6)|Unknown(1)	haematopoietic_and_lymphoid_tissue(13)|oesophagus(4)|breast(2)|pancreas(2)											232.0	182.0	199.0					X																	44833952		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.376delT	X.37:g.44833952delT	ENSP00000367203:p.Tyr126fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y126fs	ENST00000377967.4	37	c.376	CCDS14265.1	X																																																																																			KDM6A	-	smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000147050		0.323	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	40	0.00	0	T	NM_021140		44833952	44833952	+1	no_errors	ENST00000382899	ensembl	human	known	69_37n	frame_shift_del	26	41.67	20	DEL	1.000	-
KIAA0319L	79932	genome.wustl.edu	37	1	35928260	35928260	+	Missense_Mutation	SNP	A	A	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr1:35928260A>T	ENST00000325722.3	-	8	1490	c.1256T>A	c.(1255-1257)aTc>aAc	p.I419N	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	419	PKD 2. {ECO:0000255|PROSITE- ProRule:PRU00151}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGCAAAGAGATCTCCTGGAA	0.443																																						dbGAP											0													91.0	83.0	86.0					1																	35928260		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.1256T>A	1.37:g.35928260A>T	ENSP00000318406:p.Ile419Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.I419N	ENST00000325722.3	37	c.1256	CCDS390.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.4|28.4	4.921028|4.921028	0.92249|0.92249	.|.	.|.	ENSG00000142687|ENSG00000142687	ENST00000431916|ENST00000325722;ENST00000426982;ENST00000440579	.|T;T;T	.|0.14893	.|2.47;2.47;2.47	5.54|5.54	5.54|5.54	0.83059|0.83059	.|PKD/Chitinase domain (1);Fibronectin, type III (1);PKD/REJ-like protein (1);PKD domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.48095|0.48095	0.1481|0.1481	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.995	T|T	0.56384|0.56384	-0.7988|-0.7988	5|10	.|0.87932	.|D	.|0	-15.534|-15.534	14.854|14.854	0.70323|0.70323	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|419;419	.|Q8IZA0-2;Q8IZA0	.|.;K319L_HUMAN	E|N	248|419	.|ENSP00000318406:I419N;ENSP00000395883:I419N;ENSP00000407576:I419N	.|ENSP00000318406:I419N	D|I	-|-	3|2	2|0	KIAA0319L|KIAA0319L	35700847|35700847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.050000|9.050000	0.93843|0.93843	2.115000|2.115000	0.64714|0.64714	0.533000|0.533000	0.62120|0.62120	GAT|ATC	KIAA0319L	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom	ENSG00000142687		0.443	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	24	0.00	0	A	NM_024874		35928260	35928260	-1	no_errors	ENST00000325722	ensembl	human	known	69_37n	missense	20	45.95	17	SNP	1.000	T
LIPK	643414	genome.wustl.edu	37	10	90492304	90492304	+	Missense_Mutation	SNP	T	T	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr10:90492304T>C	ENST00000404190.1	+	5	665	c.665T>C	c.(664-666)gTt>gCt	p.V222A		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	222					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		AGGCGAGTAGTTAAGGTATGT	0.343																																						dbGAP											0													110.0	110.0	110.0					10																	90492304		1807	4075	5882	-	-	-	SO:0001583	missense	0				CCDS44455.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000204021	ENSG00000204021			23444	protein-coding gene	gene with protein product		613922	"""lipase-like, ab-hydrolase domain containing 2"""	LIPL2			Standard	NM_001080518		Approved	bA186O14.2	uc010qmv.2	Q5VXJ0	OTTHUMG00000018693	ENST00000404190.1:c.665T>C	10.37:g.90492304T>C	ENSP00000383900:p.Val222Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A7KIH8	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.V222A	ENST00000404190.1	37	c.665	CCDS44455.1	10	.	.	.	.	.	.	.	.	.	.	T	15.61	2.885093	0.51908	.	.	ENSG00000204021	ENST00000404190	T	0.71222	-0.55	5.75	5.75	0.90469	Alpha/beta hydrolase fold-1 (1);	0.674654	0.13098	N	0.414011	T	0.65923	0.2738	L	0.37800	1.135	0.24018	N	0.996157	P	0.40681	0.727	B	0.42625	0.393	T	0.62378	-0.6867	10	0.72032	D	0.01	-2.374	11.778	0.51997	0.0:0.0:0.1468:0.8532	.	222	Q5VXJ0	LIPK_HUMAN	A	222	ENSP00000383900:V222A	ENSP00000383900:V222A	V	+	2	0	LIPK	90482284	0.511000	0.26179	0.830000	0.32933	0.817000	0.46193	3.810000	0.55613	2.320000	0.78422	0.528000	0.53228	GTT	LIPK	-	pfam_AB_hydrolase_1	ENSG00000204021		0.343	LIPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPK	HGNC	protein_coding	OTTHUMT00000049253.2	27	0.00	0	T	XM_061222		90492304	90492304	+1	no_errors	ENST00000404190	ensembl	human	known	69_37n	missense	45	27.42	17	SNP	0.397	C
LOXHD1	125336	genome.wustl.edu	37	18	44113170	44113170	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr18:44113170C>T	ENST00000398722.4	-	21	3495	c.3496G>A	c.(3496-3498)Ggg>Agg	p.G1166R	LOXHD1_ENST00000579038.1_Missense_Mutation_p.G237R|LOXHD1_ENST00000441551.2_Missense_Mutation_p.G1238R|LOXHD1_ENST00000300591.6_Missense_Mutation_p.G333R|LOXHD1_ENST00000582408.1_Missense_Mutation_p.G333R|LOXHD1_ENST00000441893.2_Missense_Mutation_p.G377R|LOXHD1_ENST00000536736.1_Missense_Mutation_p.G1444R			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1166					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						CGTAAGGACCCATCTTTCATG	0.507																																						dbGAP											0													209.0	166.0	179.0					18																	44113170		692	1591	2283	-	-	-	SO:0001583	missense	0			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.3496G>A	18.37:g.44113170C>T	ENSP00000381707:p.Gly1166Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	p.G1444R	ENST00000398722.4	37	c.4330		18	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028128	0.54790	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000536736;ENST00000441893;ENST00000335730	T;T;T;T	0.28895	1.59;2.76;2.55;2.97	5.48	5.48	0.80851	.	0.056069	0.64402	D	0.000001	T	0.47432	0.1445	L	0.32530	0.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.37384	-0.9708	10	0.46703	T	0.11	.	19.3388	0.94332	0.0:1.0:0.0:0.0	.	1444;377;1166;1166	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	R	333;1166;1444;377;1166	ENSP00000300591:G333R;ENSP00000381707:G1166R;ENSP00000444586:G1444R;ENSP00000409062:G377R	ENSP00000300591:G333R	G	-	1	0	LOXHD1	42367168	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.441000	0.80485	2.564000	0.86499	0.462000	0.41574	GGG	LOXHD1	-	NULL	ENSG00000167210		0.507	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		29	0.00	0	C	NM_144612		44113170	44113170	-1	no_errors	ENST00000536736	ensembl	human	known	69_37n	missense	16	63.64	28	SNP	1.000	T
LRP5	4041	genome.wustl.edu	37	11	68115418	68115418	+	Silent	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr11:68115418G>A	ENST00000294304.7	+	2	301	c.195G>A	c.(193-195)gcG>gcA	p.A65A		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	65	Beta-propeller 1.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGGATGCGGCCGCAGTGG	0.657																																						dbGAP											0													54.0	54.0	54.0					11																	68115418		2200	4294	6494	-	-	-	SO:0001819	synonymous_variant	0			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.195G>A	11.37:g.68115418G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96TD6|Q9UES7|Q9UP66	Silent	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.A65	ENST00000294304.7	37	c.195	CCDS8181.1	11																																																																																			LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt	ENSG00000162337		0.657	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	45	0.00	0	G	NM_002335		68115418	68115418	+1	no_errors	ENST00000294304	ensembl	human	known	69_37n	silent	36	12.20	5	SNP	0.892	A
LRRN3	54674	genome.wustl.edu	37	7	110764875	110764875	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr7:110764875C>T	ENST00000422987.3	+	2	2878	c.2047C>T	c.(2047-2049)Ctc>Ttc	p.L683F	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.L683F|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L683F|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	683					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTGATAAATCTCTGGGAAGC	0.388																																						dbGAP											0													77.0	83.0	81.0					7																	110764875		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.2047C>T	7.37:g.110764875C>T	ENSP00000412417:p.Leu683Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.L683F	ENST00000422987.3	37	c.2047	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502436	0.85176	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.54675	0.56;0.56;0.56	5.57	5.57	0.84162	.	0.000000	0.53938	D	0.000044	T	0.74966	0.3786	M	0.78049	2.395	0.58432	D	0.999992	D	0.89917	1.0	D	0.85130	0.997	T	0.75119	-0.3430	10	0.52906	T	0.07	.	19.918	0.97070	0.0:1.0:0.0:0.0	.	683	Q9H3W5	LRRN3_HUMAN	F	683	ENSP00000312001:L683F;ENSP00000397312:L683F;ENSP00000412417:L683F	ENSP00000312001:L683F	L	+	1	0	LRRN3	110552111	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.256000	0.78350	2.785000	0.95823	0.591000	0.81541	CTC	LRRN3	-	NULL	ENSG00000173114		0.388	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	28	0.00	0	C	NM_018334		110764875	110764875	+1	no_errors	ENST00000308478	ensembl	human	known	69_37n	missense	22	38.89	14	SNP	1.000	T
MYH15	22989	genome.wustl.edu	37	3	108156455	108156455	+	Missense_Mutation	SNP	T	T	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr3:108156455T>C	ENST00000273353.3	-	26	3283	c.3227A>G	c.(3226-3228)gAa>gGa	p.E1076G		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1076						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTCCATACTTTCCCGATTCAG	0.478																																						dbGAP											0													232.0	226.0	228.0					3																	108156455		1922	4142	6064	-	-	-	SO:0001583	missense	0			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3227A>G	3.37:g.108156455T>C	ENSP00000273353:p.Glu1076Gly	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.E1076G	ENST00000273353.3	37	c.3227	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	T	9.715	1.158219	0.21454	.	.	ENSG00000144821	ENST00000273353	D	0.94828	-3.53	5.19	1.19	0.21007	.	.	.	.	.	D	0.93618	0.7962	M	0.86864	2.845	0.43195	D	0.995037	B	0.12630	0.006	B	0.18871	0.023	D	0.88877	0.3337	9	0.66056	D	0.02	.	8.2793	0.31892	0.1237:0.0:0.2568:0.6195	.	1076	Q9Y2K3	MYH15_HUMAN	G	1076	ENSP00000273353:E1076G	ENSP00000273353:E1076G	E	-	2	0	MYH15	109639145	0.393000	0.25237	0.001000	0.08648	0.018000	0.09664	1.801000	0.38843	0.026000	0.15269	0.533000	0.62120	GAA	MYH15	-	NULL	ENSG00000144821		0.478	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	60	0.00	0	T	XM_036988		108156455	108156455	-1	no_errors	ENST00000273353	ensembl	human	known	69_37n	missense	63	20.25	16	SNP	0.762	C
MRPL3	11222	genome.wustl.edu	37	3	131219335	131219335	+	Missense_Mutation	SNP	T	T	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr3:131219335T>A	ENST00000264995.3	-	3	455	c.308A>T	c.(307-309)aAg>aTg	p.K103M	MRPL3_ENST00000506946.1_5'Flank|MRPL3_ENST00000425847.2_Missense_Mutation_p.K130M	NM_007208.3	NP_009139.1	P09001	RM03_HUMAN	mitochondrial ribosomal protein L3	103					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CATGCCCAGCTTCAAGGCAAT	0.388																																						dbGAP											0													116.0	96.0	103.0					3																	131219335		2203	4300	6503	-	-	-	SO:0001583	missense	0			X06323	CCDS3071.1	3q21-q23	2012-09-13			ENSG00000114686	ENSG00000114686		"""Mitochondrial ribosomal proteins / large subunits"""	10379	protein-coding gene	gene with protein product		607118		RPML3		2891103	Standard	NM_007208		Approved	MRL3	uc003eoh.3	P09001	OTTHUMG00000159607	ENST00000264995.3:c.308A>T	3.37:g.131219335T>A	ENSP00000264995:p.Lys103Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IBT2	Missense_Mutation	SNP	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Ribosomal_L3_bac/org-type	p.K103M	ENST00000264995.3	37	c.308	CCDS3071.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.8|20.8	4.053115|4.053115	0.75960|0.75960	.|.	.|.	ENSG00000114686|ENSG00000114686	ENST00000511168|ENST00000264995;ENST00000425847;ENST00000512877	.|T;T;T	.|0.68331	.|-0.32;-0.32;-0.32	5.63|5.63	5.63|5.63	0.86233|0.86233	.|Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.89181|0.89181	0.6642|0.6642	H|H	0.98996|0.98996	4.395|4.395	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.93320|0.93320	0.6692|0.6692	5|10	.|0.87932	.|D	.|0	-15.672|-15.672	14.8133|14.8133	0.70010|0.70010	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|130;103	.|E7ETU7;P09001	.|.;RM03_HUMAN	D|M	117|103;130;103	.|ENSP00000264995:K103M;ENSP00000398536:K130M;ENSP00000422035:K103M	.|ENSP00000264995:K103M	E|K	-|-	3|2	2|0	MRPL3|MRPL3	132702025|132702025	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.872000|0.872000	0.50106|0.50106	6.163000|6.163000	0.71880|0.71880	2.148000|2.148000	0.66965|0.66965	0.459000|0.459000	0.35465|0.35465	GAA|AAG	MRPL3	-	pfam_Ribosomal_L3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Ribosomal_L3_bac/org-type	ENSG00000114686		0.388	MRPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL3	HGNC	protein_coding	OTTHUMT00000356471.3	18	0.00	0	T	NM_007208		131219335	131219335	-1	no_errors	ENST00000264995	ensembl	human	known	69_37n	missense	12	61.29	19	SNP	1.000	A
NHS	4810	genome.wustl.edu	37	X	17750269	17750269	+	Silent	SNP	A	A	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chrX:17750269A>G	ENST00000380060.3	+	8	4916	c.4578A>G	c.(4576-4578)aaA>aaG	p.K1526K	NHS_ENST00000398097.3_Silent_p.K1370K	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1547					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TACTGCCCAAACCTCCTGGGG	0.552																																						dbGAP											0													76.0	74.0	74.0					X																	17750269		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4578A>G	X.37:g.17750269A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	NULL	p.K1526	ENST00000380060.3	37	c.4578	CCDS14181.1	X																																																																																			NHS	-	NULL	ENSG00000188158		0.552	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	41	0.00	0	A	NM_198270		17750269	17750269	+1	no_errors	ENST00000380060	ensembl	human	known	69_37n	silent	41	10.87	5	SNP	0.911	G
ODAM	54959	genome.wustl.edu	37	4	71068004	71068004	+	Silent	SNP	T	T	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr4:71068004T>G	ENST00000396094.2	+	8	654	c.606T>G	c.(604-606)gcT>gcG	p.A202A		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	202	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						AGCAACTAGCTTTTGATCCCC	0.403																																						dbGAP											0													108.0	94.0	99.0					4																	71068004		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.606T>G	4.37:g.71068004T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WWE5|Q9NWZ9	Silent	SNP	NULL	p.A202	ENST00000396094.2	37	c.606	CCDS3536.2	4																																																																																			ODAM	-	NULL	ENSG00000109205		0.403	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODAM	HGNC	protein_coding	OTTHUMT00000251562.1	44	0.00	0	T	NM_017855		71068004	71068004	+1	no_errors	ENST00000396094	ensembl	human	known	69_37n	silent	48	15.79	9	SNP	0.010	G
OR10G4	390264	genome.wustl.edu	37	11	123886844	123886844	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr11:123886844G>A	ENST00000320891.4	+	1	563	c.563G>A	c.(562-564)tGt>tAt	p.C188Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AAACTGGCCTGTGCAGACACC	0.527																																						dbGAP											0													218.0	175.0	189.0					11																	123886844		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.563G>A	11.37:g.123886844G>A	ENSP00000325076:p.Cys188Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEW0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.C188Y	ENST00000320891.4	37	c.563	CCDS31702.1	11	.	.	.	.	.	.	.	.	.	.	g	15.11	2.736355	0.49045	.	.	ENSG00000254737	ENST00000320891	T	0.00462	7.26	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000104	T	0.02380	0.0073	H	0.97390	3.995	0.44241	D	0.997081	D	0.89917	1.0	D	0.97110	1.0	T	0.01951	-1.1241	10	0.87932	D	0	.	9.8474	0.41034	0.1059:0.0:0.8941:0.0	.	188	Q8NGN3	O10G4_HUMAN	Y	188	ENSP00000325076:C188Y	ENSP00000325076:C188Y	C	+	2	0	OR10G4	123392054	1.000000	0.71417	0.999000	0.59377	0.540000	0.34992	6.866000	0.75506	1.878000	0.54408	0.580000	0.79431	TGT	OR10G4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000254737		0.527	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1	165	0.60	1	G	NM_001004462		123886844	123886844	+1	no_errors	ENST00000320891	ensembl	human	known	69_37n	missense	63	40.00	42	SNP	1.000	A
OR2T2	401992	genome.wustl.edu	37	1	248616356	248616356	+	Silent	SNP	C	C	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr1:248616356C>A	ENST00000342927.3	+	1	280	c.258C>A	c.(256-258)ctC>ctA	p.L86L		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	86						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L86L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCCAGGACCTCCTGTCCAAGG	0.532																																						dbGAP											1	Substitution - coding silent(1)	lung(1)											157.0	188.0	177.0					1																	248616356		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.258C>A	1.37:g.248616356C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNM1|B9EH01	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L86	ENST00000342927.3	37	c.258	CCDS31116.1	1																																																																																			OR2T2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196240		0.532	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	87	0.00	0	C	NM_001004136		248616356	248616356	+1	no_errors	ENST00000342927	ensembl	human	known	69_37n	silent	126	11.89	17	SNP	0.000	A
PA2G4	5036	genome.wustl.edu	37	12	56504773	56504773	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr12:56504773C>G	ENST00000303305.6	+	10	1287	c.868C>G	c.(868-870)Cgg>Ggg	p.R290G	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	290					cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAGAAGGCTCGGATGGGTGT	0.418																																						dbGAP											0													63.0	60.0	61.0					12																	56504773		2203	4300	6503	-	-	-	SO:0001583	missense	0			U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.868C>G	12.37:g.56504773C>G	ENSP00000302886:p.Arg290Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O43846|Q9UM59	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	p.R290G	ENST00000303305.6	37	c.868	CCDS8902.1	12	.	.	.	.	.	.	.	.	.	.	C	14.80	2.642631	0.47153	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	4.8	4.8	0.61643	Winged helix-turn-helix transcription repressor DNA-binding (1);Peptidase M24, structural domain (1);	0.000000	0.85682	D	0.000000	T	0.70081	0.3183	M	0.78285	2.405	0.80722	D	1	D;D	0.60575	0.986;0.988	P;P	0.58077	0.832;0.684	T	0.73987	-0.3809	9	0.66056	D	0.02	.	10.921	0.47165	0.3014:0.6986:0.0:0.0	.	290;290	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	G	290;319;290	.	ENSP00000302886:R290G	R	+	1	2	PA2G4	54791040	0.989000	0.36119	1.000000	0.80357	0.999000	0.98932	1.391000	0.34475	2.372000	0.80975	0.650000	0.86243	CGG	PA2G4	-	superfamily_Pept_M24_structural-domain,tigrfam_Pap_1	ENSG00000170515		0.418	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PA2G4	HGNC	protein_coding	OTTHUMT00000407767.1	47	0.00	0	C	NM_006191		56504773	56504773	+1	no_errors	ENST00000303305	ensembl	human	known	69_37n	missense	28	34.88	15	SNP	1.000	G
PDCD6	10016	genome.wustl.edu	37	5	314783	314783	+	3'UTR	SNP	G	G	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr5:314783G>C	ENST00000264933.4	+	0	829				PDCD6_ENST00000511482.1_3'UTR|AHRR_ENST00000505113.1_Intron|PDCD6_ENST00000505221.1_3'UTR|AHRR_ENST00000512529.1_Intron|AHRR_ENST00000316418.5_Intron|PDCD6_ENST00000507528.1_3'UTR	NM_001267556.1|NM_001267558.1|NM_013232.3	NP_001254485.1|NP_001254487.1|NP_037364.1	O75340	PDCD6_HUMAN	programmed cell death 6						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|cellular response to heat (GO:0034605)|intracellular protein transport (GO:0006886)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|proteolysis (GO:0006508)|response to calcium ion (GO:0051592)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|calcium-dependent protein binding (GO:0048306)|protein dimerization activity (GO:0046983)			breast(2)|endometrium(1)|large_intestine(4)|lung(1)	8			Epithelial(17;0.00193)|OV - Ovarian serous cystadenocarcinoma(19;0.00489)|all cancers(22;0.00511)|Lung(60;0.113)			TGGATAAGCTGATTAATGGTT	0.418																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF035606	CCDS3854.1, CCDS58940.1, CCDS58941.1, CCDS75222.1, CCDS75223.1	5p15.33	2013-01-10			ENSG00000249915	ENSG00000249915		"""EF-hand domain containing"""	8765	protein-coding gene	gene with protein product	"""apoptosis-linked gene-2"""	601057				8560270	Standard	NM_013232		Approved	ALG-2, PEF1B	uc003jat.1	O75340	OTTHUMG00000090283	ENST00000264933.4:c.*153G>C	5.37:g.314783G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD16|E7ESR3|Q2YDC2|Q5TZS0	RNA	SNP	-	NULL	ENST00000264933.4	37	NULL	CCDS3854.1	5																																																																																			PDCD6	-	-	ENSG00000249915		0.418	PDCD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDCD6	HGNC	protein_coding	OTTHUMT00000206609.2	36	0.00	0	G	NM_013232		314783	314783	+1	no_errors	ENST00000511482	ensembl	human	known	69_37n	rna	35	12.50	5	SNP	0.002	C
PNN	5411	genome.wustl.edu	37	14	39651035	39651035	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr14:39651035C>G	ENST00000216832.4	+	9	2189	c.2122C>G	c.(2122-2124)Cga>Gga	p.R708G	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	708	Arg-rich.|Necessary for interaction with PPIG.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TGAAAGAGACCGAAAATCAGA	0.398																																						dbGAP											0													79.0	78.0	79.0					14																	39651035		2203	4300	6503	-	-	-	SO:0001583	missense	0			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.2122C>G	14.37:g.39651035C>G	ENSP00000216832:p.Arg708Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Missense_Mutation	SNP	pfam_Pinin_SDK_N,pfam_Pinin_SDK_MemA	p.R708G	ENST00000216832.4	37	c.2122	CCDS9671.1	14	.	.	.	.	.	.	.	.	.	.	C	14.80	2.643103	0.47153	.	.	ENSG00000100941	ENST00000216832	T	0.14391	2.51	6.13	6.13	0.99165	.	0.053092	0.85682	D	0.000000	T	0.29093	0.0723	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	D	0.64321	0.924	T	0.00293	-1.1841	10	0.87932	D	0	-6.4541	20.8401	0.99726	0.0:1.0:0.0:0.0	.	708	Q9H307	PININ_HUMAN	G	708	ENSP00000216832:R708G	ENSP00000216832:R708G	R	+	1	2	PNN	38720786	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.947000	0.75959	2.932000	0.99384	0.644000	0.83932	CGA	PNN	-	NULL	ENSG00000100941		0.398	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2	13	0.00	0	C	NM_002687		39651035	39651035	+1	no_errors	ENST00000216832	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	1.000	G
POFUT1	23509	genome.wustl.edu	37	20	30803131	30803131	+	Silent	SNP	C	C	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr20:30803131C>T	ENST00000375749.3	+	3	368	c.306C>T	c.(304-306)gtC>gtT	p.V102V	POFUT1_ENST00000375730.3_Silent_p.V102V|POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	102					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ACCATCGGGTCATCAGCTTGG	0.597																																						dbGAP											0													78.0	80.0	80.0					20																	30803131		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.306C>T	20.37:g.30803131C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Silent	SNP	pfam_GDP-Fuc_O-FucTrfase	p.V102	ENST00000375749.3	37	c.306	CCDS13198.1	20																																																																																			POFUT1	-	pfam_GDP-Fuc_O-FucTrfase	ENSG00000101346		0.597	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT1	HGNC	protein_coding	OTTHUMT00000078613.1	23	0.00	0	C	NM_015352		30803131	30803131	+1	no_errors	ENST00000375749	ensembl	human	known	69_37n	silent	29	23.68	9	SNP	1.000	T
PPP1CB	5500	genome.wustl.edu	37	2	29004694	29004694	+	Missense_Mutation	SNP	T	T	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr2:29004694T>G	ENST00000395366.2	+	4	778	c.506T>G	c.(505-507)tTc>tGc	p.F169C	PPP1CB_ENST00000296122.6_Missense_Mutation_p.F169C|PPP1CB_ENST00000358506.2_Missense_Mutation_p.F169C	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	169					cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|G2/M transition of mitotic cell cycle (GO:0000086)|glycogen metabolic process (GO:0005977)|mitotic cell cycle (GO:0000278)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|myosin phosphatase activity (GO:0017018)|myosin-light-chain-phosphatase activity (GO:0050115)|phosphatase activity (GO:0016791)|protein kinase binding (GO:0019901)			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					GAGAAGATCTTCTGTTGTCAT	0.343																																						dbGAP											0													105.0	104.0	104.0					2																	29004694		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33169.1	2p23	2013-01-18	2010-03-05		ENSG00000213639	ENSG00000213639	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9282	protein-coding gene	gene with protein product		600590	"""protein phosphatase 1, catalytic subunit, beta isoform"""			8312365	Standard	NM_002709		Approved	PP1B, PP-1B, PP1beta	uc002rmg.3	P62140	OTTHUMG00000152011	ENST00000395366.2:c.506T>G	2.37:g.29004694T>G	ENSP00000378769:p.Phe169Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5V4|D6W565|P37140|Q5U087|Q6FG45	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	p.F169C	ENST00000395366.2	37	c.506	CCDS33169.1	2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.581032	0.86748	.	.	ENSG00000213639	ENST00000455580;ENST00000358506;ENST00000296122;ENST00000395366;ENST00000418910	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	5.77	5.77	0.91146	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.96420	0.8832	H	0.99820	4.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.98534	1.0629	10	0.87932	D	0	-9.2858	16.3948	0.83586	0.0:0.0:0.0:1.0	.	141;169	B4E163;P62140	.;PP1B_HUMAN	C	141;169;169;169;44	ENSP00000390715:F141C;ENSP00000351298:F169C;ENSP00000296122:F169C;ENSP00000378769:F169C;ENSP00000388056:F44C	ENSP00000296122:F169C	F	+	2	0	PPP1CB	28858198	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.970000	0.88000	2.326000	0.78906	0.533000	0.62120	TTC	PPP1CB	-	pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000213639		0.343	PPP1CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1CB	HGNC	protein_coding	OTTHUMT00000324841.1	23	0.00	0	T			29004694	29004694	+1	no_errors	ENST00000296122	ensembl	human	known	69_37n	missense	32	38.46	20	SNP	1.000	G
PTPN7	5778	genome.wustl.edu	37	1	202127399	202127399	+	Silent	SNP	G	G	A	rs377638610		TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr1:202127399G>A	ENST00000308986.5	-	3	283	c.153C>T	c.(151-153)gaC>gaT	p.D51D	PTPN7_ENST00000492977.1_5'UTR|PTPN7_ENST00000543735.1_Intron|PTPN7_ENST00000367279.4_Silent_p.D90D|PTPN7_ENST00000544762.1_De_novo_Start_OutOfFrame|PTPN7_ENST00000309017.3_Silent_p.D156D			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7	51	Interaction with MAP kinases.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						GGGACCGAACGTCCAGCATCA	0.557																																						dbGAP											0													40.0	42.0	41.0					1																	202127399		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC001746	CCDS1422.1, CCDS1423.1, CCDS1423.2	1q32.1	2011-06-09			ENSG00000143851	ENSG00000143851		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9659	protein-coding gene	gene with protein product		176889				1510684	Standard	NM_002832		Approved	HEPTP, LC-PTP	uc010ppx.2	P35236	OTTHUMG00000035931	ENST00000308986.5:c.153C>T	1.37:g.202127399G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXE1|Q53XK4|Q5SXQ0|Q5SXQ1|Q9BV05	Missense_Mutation	SNP	NULL	p.R58C	ENST00000308986.5	37	c.172		1	.	.	.	.	.	.	.	.	.	.	G	9.709	1.156646	0.21454	.	.	ENSG00000143851	ENST00000435759	.	.	.	4.9	-9.29	0.00653	.	.	.	.	.	T	0.69333	0.3099	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.80703	-0.1264	5	0.66056	D	0.02	.	16.9281	0.86182	0.7623:0.0:0.2377:0.0	.	.	.	.	C	58	.	ENSP00000406042:R58C	R	-	1	0	PTPN7	200394022	0.297000	0.24408	0.756000	0.31282	0.311000	0.27955	-0.335000	0.07873	-1.819000	0.01216	-0.657000	0.03884	CGT	PTPN7	-	NULL	ENSG00000143851		0.557	PTPN7-201	KNOWN	basic|appris_principal	protein_coding	PTPN7	HGNC	protein_coding		64	0.00	0	G	NM_002832		202127399	202127399	-1	no_stop_codon	ENST00000435759	ensembl	human	novel	69_37n	missense	43	29.51	18	SNP	0.787	A
PTX4	390667	genome.wustl.edu	37	16	1535986	1535986	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr16:1535986C>T	ENST00000447419.2	-	3	1416	c.1391G>A	c.(1390-1392)gGa>gAa	p.G464E	PTX4_ENST00000293922.1_Missense_Mutation_p.G459E|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	464	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CTGCACAAATCCGCCTGCTAG	0.647																																						dbGAP											0													38.0	39.0	39.0					16																	1535986		2199	4300	6499	-	-	-	SO:0001583	missense	0				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.1391G>A	16.37:g.1535986C>T	ENSP00000445277:p.Gly464Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Pentaxin,prints_Pentaxin	p.G464E	ENST00000447419.2	37	c.1391		16	.	.	.	.	.	.	.	.	.	.	C	7.502	0.652886	0.14580	.	.	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.12984	2.79;2.63	5.21	3.28	0.37604	.	0.208574	0.39083	N	0.001474	T	0.17916	0.0430	M	0.71036	2.16	0.35992	D	0.836791	B	0.23650	0.089	B	0.29524	0.103	T	0.06954	-1.0798	10	0.51188	T	0.08	.	9.7999	0.40757	0.0:0.8307:0.0:0.1693	.	459	Q96A99-2	.	E	464;459	ENSP00000445277:G464E;ENSP00000293922:G459E	ENSP00000293922:G459E	G	-	2	0	PTX4	1475987	0.010000	0.17322	0.003000	0.11579	0.003000	0.03518	2.217000	0.42880	0.615000	0.30124	-0.244000	0.11960	GGA	PTX4	-	superfamily_ConA-like_lec_gl,smart_Pentaxin	ENSG00000251692		0.647	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	66	0.00	0	C	NM_001013658		1535986	1535986	-1	no_errors	ENST00000447419	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	0.500	T
PYHIN1	149628	genome.wustl.edu	37	1	158908228	158908228	+	Missense_Mutation	SNP	C	C	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr1:158908228C>A	ENST00000368140.1	+	3	552	c.307C>A	c.(307-309)Cca>Aca	p.P103T	PYHIN1_ENST00000368135.4_Missense_Mutation_p.P103T|PYHIN1_ENST00000392252.3_Missense_Mutation_p.P94T|PYHIN1_ENST00000368138.3_Missense_Mutation_p.P94T|PYHIN1_ENST00000392254.2_Missense_Mutation_p.P103T	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	103					cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGGAATAATCCCATCTAAAAA	0.443																																						dbGAP											0													113.0	109.0	111.0					1																	158908228		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.307C>A	1.37:g.158908228C>A	ENSP00000357122:p.Pro103Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x	p.P103T	ENST00000368140.1	37	c.307	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533191	0.27387	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.30448	1.53;3.52;3.58;3.54;3.6;1.84	2.1	1.1	0.20463	.	.	.	.	.	T	0.17152	0.0412	L	0.59436	1.845	0.09310	N	1	P;P;P;B;P	0.50528	0.698;0.565;0.698;0.373;0.936	B;B;B;B;P	0.48425	0.222;0.158;0.222;0.052;0.577	T	0.06075	-1.0847	9	0.49607	T	0.09	.	5.0886	0.14696	0.0:0.815:0.0:0.185	.	94;103;94;103;103	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	T	103;103;94;103;94;103	ENSP00000407616:P103T;ENSP00000357122:P103T;ENSP00000357120:P94T;ENSP00000376083:P103T;ENSP00000376082:P94T;ENSP00000357117:P103T	ENSP00000357117:P103T	P	+	1	0	PYHIN1	157174852	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.755000	0.04782	0.395000	0.25257	0.460000	0.39030	CCA	PYHIN1	-	NULL	ENSG00000163564		0.443	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1	25	0.00	0	C	NM_152501		158908228	158908228	+1	no_errors	ENST00000368140	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	0.003	A
SBNO2	22904	genome.wustl.edu	37	19	1112235	1112235	+	Missense_Mutation	SNP	C	C	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr19:1112235C>G	ENST00000361757.3	-	22	2818	c.2581G>C	c.(2581-2583)Ggg>Cgg	p.G861R	SBNO2_ENST00000587024.1_Missense_Mutation_p.G851R|SBNO2_ENST00000438103.2_Missense_Mutation_p.G804R	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	861					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGCGCTCCCCGGCCAGCTCC	0.697																																						dbGAP											0													12.0	15.0	14.0					19																	1112235		1918	4120	6038	-	-	-	SO:0001583	missense	0			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.2581G>C	19.37:g.1112235C>G	ENSP00000354733:p.Gly861Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.G861R	ENST00000361757.3	37	c.2581	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	26.3	4.726500	0.89298	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	T;T	0.75154	-0.91;-0.91	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.89093	0.6617	H	0.94542	3.55	0.51482	D	0.99992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91522	0.5235	10	0.87932	D	0	-42.2994	12.5575	0.56263	0.0:0.9149:0.0:0.0851	.	861;804	Q9Y2G9;Q9Y2G9-3	SBNO2_HUMAN;.	R	861;804;868	ENSP00000354733:G861R;ENSP00000400762:G804R	ENSP00000250872:G868R	G	-	1	0	SBNO2	1063235	1.000000	0.71417	0.928000	0.36995	0.874000	0.50279	5.892000	0.69790	2.323000	0.78572	0.448000	0.29417	GGG	SBNO2	-	NULL	ENSG00000064932		0.697	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	15	0.00	0	C	NM_014963		1112235	1112235	-1	no_errors	ENST00000361757	ensembl	human	known	69_37n	missense	21	59.62	31	SNP	0.998	G
SCAF4	57466	genome.wustl.edu	37	21	33065714	33065714	+	Missense_Mutation	SNP	C	C	G	rs371739627		TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr21:33065714C>G	ENST00000286835.7	-	12	1788	c.1406G>C	c.(1405-1407)aGa>aCa	p.R469T	SCAF4_ENST00000399804.1_Missense_Mutation_p.R469T|SCAF4_ENST00000434667.3_Missense_Mutation_p.R454T	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	469						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATGTCGGCGTCTATCCCTGGA	0.493																																						dbGAP											0													111.0	94.0	99.0					21																	33065714		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.1406G>C	21.37:g.33065714C>G	ENSP00000286835:p.Arg469Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom	p.R469T	ENST00000286835.7	37	c.1406	CCDS33537.1	21	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455600	0.84209	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.29655	4.35;4.35;1.56	5.2	5.2	0.72013	.	0.062933	0.64402	D	0.000005	T	0.58878	0.2153	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.83275	0.991;0.987;0.996;0.991	T	0.60786	-0.7194	10	0.48119	T	0.1	-15.9718	18.7325	0.91741	0.0:1.0:0.0:0.0	.	454;469;469;469	C9JLZ0;C9J1W7;O95104-2;O95104	.;.;.;SFR15_HUMAN	T	454;469;469	ENSP00000402377:R454T;ENSP00000286835:R469T;ENSP00000382703:R469T	ENSP00000286835:R469T	R	-	2	0	SCAF4	31987585	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	4.925000	0.63425	2.413000	0.81919	0.557000	0.71058	AGA	SCAF4	-	NULL	ENSG00000156304		0.493	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCAF4	HGNC	protein_coding	OTTHUMT00000192659.1	24	0.00	0	C	XM_047889		33065714	33065714	-1	no_errors	ENST00000286835	ensembl	human	known	69_37n	missense	27	38.64	17	SNP	1.000	G
ZBED9	114821	genome.wustl.edu	37	6	28541421	28541421	+	Missense_Mutation	SNP	C	C	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr6:28541421C>A	ENST00000452236.2	-	4	2862	c.2245G>T	c.(2245-2247)Gta>Tta	p.V749L	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ccatcaattacagctacaaaa	0.338																																						dbGAP											0													73.0	65.0	67.0					6																	28541421		2201	4300	6501	-	-	-	SO:0001583	missense	0																														ENST00000452236.2:c.2245G>T	6.37:g.28541421C>A	ENSP00000395259:p.Val749Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.V749L	ENST00000452236.2	37	c.2245	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	5.683	0.310664	0.10733	.	.	ENSG00000232040	ENST00000452236	T	0.01422	4.91	2.14	-0.688	0.11317	.	0.332005	0.18912	U	0.127730	T	0.00328	0.0010	L	0.34521	1.04	0.23063	N	0.998356	B	0.12013	0.005	B	0.12837	0.008	T	0.42666	-0.9438	10	0.09590	T	0.72	.	4.9881	0.14200	0.0:0.4989:0.0:0.5011	.	749	Q6R2W3	SCND3_HUMAN	L	749	ENSP00000395259:V749L	ENSP00000395259:V749L	V	-	1	0	SCAND3	28649400	0.128000	0.22383	0.848000	0.33437	0.955000	0.61496	-0.325000	0.07976	-0.229000	0.09854	-0.251000	0.11542	GTA	SCAND3	-	NULL	ENSG00000232040		0.338	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	26	0.00	0	C			28541421	28541421	-1	no_errors	ENST00000452236	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	0.873	A
SEMA3F	6405	genome.wustl.edu	37	3	50224045	50224045	+	Splice_Site	SNP	G	G	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr3:50224045G>C	ENST00000002829.3	+	18	2297		c.e18-1		SEMA3F_ENST00000413852.1_Splice_Site|SEMA3F_ENST00000434342.1_Splice_Site	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F						axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		TCACTCTAAAGCCAACAAGAA	0.617																																						dbGAP											0													102.0	89.0	94.0					3																	50224045		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.1814-1G>C	3.37:g.50224045G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Splice_Site	SNP	-	e17-1	ENST00000002829.3	37	c.1814-1	CCDS2811.1	3	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093978	0.76870	.	.	ENSG00000001617	ENST00000413852;ENST00000002829;ENST00000434342	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8722	0.96854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SEMA3F	50199049	1.000000	0.71417	0.998000	0.56505	0.612000	0.37316	7.492000	0.81482	2.793000	0.96121	0.655000	0.94253	.	SEMA3F	-	-	ENSG00000001617		0.617	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3F	HGNC	protein_coding	OTTHUMT00000345929.1	75	0.00	0	G	NM_004186	Intron	50224045	50224045	+1	no_errors	ENST00000002829	ensembl	human	known	69_37n	splice_site	42	44.00	33	SNP	1.000	C
SLC22A18	5002	genome.wustl.edu	37	11	2937968	2937968	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr11:2937968C>T	ENST00000380574.1	+	6	1084	c.653C>T	c.(652-654)cCa>cTa	p.P218L	SLC22A18_ENST00000347936.2_Missense_Mutation_p.P218L|SLC22A18_ENST00000449793.2_Missense_Mutation_p.P120L|SLC22A18_ENST00000312221.5_Missense_Mutation_p.P218L|SLC22A18_ENST00000441077.1_3'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	218					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GCTCCACTGCCAGGTAAGCCC	0.667																																						dbGAP											0													60.0	57.0	58.0					11																	2937968		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.653C>T	11.37:g.2937968C>T	ENSP00000369948:p.Pro218Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.P218L	ENST00000380574.1	37	c.653	CCDS7740.1	11	.	.	.	.	.	.	.	.	.	.	c	10.99	1.508202	0.27036	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	T;T;T;T	0.55413	0.52;0.52;2.27;0.52	3.77	-1.27	0.09347	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.761875	0.10670	U	0.647630	T	0.37293	0.0998	L	0.51422	1.61	0.09310	N	1	P;B	0.36199	0.543;0.27	B;B	0.28385	0.065;0.089	T	0.16247	-1.0409	10	0.35671	T	0.21	-3.4436	6.3521	0.21381	0.5261:0.3015:0.1724:0.0	.	120;218	E9PRM7;Q96BI1	.;S22AI_HUMAN	L	218;218;120;218	ENSP00000307859:P218L;ENSP00000311139:P218L;ENSP00000392072:P120L;ENSP00000369948:P218L	ENSP00000311139:P218L	P	+	2	0	SLC22A18	2894544	0.355000	0.24921	0.084000	0.20598	0.009000	0.06853	0.772000	0.26647	-0.011000	0.14247	-0.323000	0.08544	CCA	SLC22A18	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000110628		0.667	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC22A18	HGNC	protein_coding	OTTHUMT00000027770.1	56	0.00	0	C	NM_183233		2937968	2937968	+1	no_errors	ENST00000312221	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	0.040	T
SLC24A3	57419	genome.wustl.edu	37	20	19664897	19664897	+	Missense_Mutation	SNP	G	G	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr20:19664897G>C	ENST00000328041.6	+	11	1176	c.979G>C	c.(979-981)Gag>Cag	p.E327Q		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	327					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCCTTCTCTGAGGCTGGCCT	0.517																																						dbGAP											0													104.0	92.0	96.0					20																	19664897		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.979G>C	20.37:g.19664897G>C	ENSP00000333519:p.Glu327Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.E327Q	ENST00000328041.6	37	c.979	CCDS13140.1	20	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900851	0.92035	.	.	ENSG00000185052	ENST00000328041	T	0.65178	-0.14	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.79986	0.4541	M	0.82323	2.585	0.80722	D	1	D	0.63046	0.992	P	0.61477	0.889	T	0.80701	-0.1265	9	.	.	.	.	19.3831	0.94545	0.0:0.0:1.0:0.0	.	327	Q9HC58	NCKX3_HUMAN	Q	327	ENSP00000333519:E327Q	.	E	+	1	0	SLC24A3	19612897	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.869000	0.99810	2.669000	0.90835	0.563000	0.77884	GAG	SLC24A3	-	tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000185052		0.517	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	43	0.00	0	G	NM_020689		19664897	19664897	+1	no_errors	ENST00000328041	ensembl	human	known	69_37n	missense	31	44.64	25	SNP	1.000	C
SLC38A11	151258	genome.wustl.edu	37	2	165755107	165755107	+	Missense_Mutation	SNP	A	A	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr2:165755107A>T	ENST00000409149.3	-	11	1352	c.1061T>A	c.(1060-1062)gTt>gAt	p.V354D	SLC38A11_ENST00000409662.1_Missense_Mutation_p.V354D|SLC38A11_ENST00000303735.4_Missense_Mutation_p.V332D|SLC38A11_ENST00000409058.1_Missense_Mutation_p.V385D|RNA5SP111_ENST00000411386.1_RNA	NM_001199148.1	NP_001186077.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	354					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						GAATCCAAAAACCATCACCAC	0.428																																						dbGAP											0													134.0	117.0	123.0					2																	165755107		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2224.1, CCDS56142.1	2q24.3	2013-05-22			ENSG00000169507	ENSG00000169507		"""Solute carriers"""	26836	protein-coding gene	gene with protein product							Standard	NM_173512		Approved	FLJ39822, AVT2	uc002ucw.2	Q08AI6	OTTHUMG00000132144	ENST00000409149.3:c.1061T>A	2.37:g.165755107A>T	ENSP00000386272:p.Val354Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DF99|Q8N887	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.V354D	ENST00000409149.3	37	c.1061	CCDS56142.1	2	.	.	.	.	.	.	.	.	.	.	A	18.47	3.630214	0.67015	.	.	ENSG00000169507	ENST00000303735;ENST00000409149;ENST00000409058;ENST00000409662	T;T;T;T	0.02763	4.17;4.17;4.17;4.17	5.42	1.17	0.20885	.	0.590785	0.18801	N	0.130791	T	0.08088	0.0202	M	0.72353	2.195	0.47441	D	0.999427	P;P	0.41265	0.744;0.699	P;P	0.53988	0.739;0.622	T	0.10497	-1.0627	10	0.72032	D	0.01	-3.7211	4.7993	0.13289	0.4775:0.2861:0.2364:0.0	.	354;332	Q08AI6;Q08AI6-2	S38AB_HUMAN;.	D	332;354;385;354	ENSP00000306178:V332D;ENSP00000386272:V354D;ENSP00000387345:V385D;ENSP00000386774:V354D	ENSP00000306178:V332D	V	-	2	0	SLC38A11	165463353	0.525000	0.26290	0.551000	0.28230	0.967000	0.64934	1.031000	0.30165	0.283000	0.22279	0.379000	0.24179	GTT	SLC38A11	-	pfam_AA_transpt_TM	ENSG00000169507		0.428	SLC38A11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A11	HGNC	protein_coding	OTTHUMT00000333390.1	32	0.00	0	A	NM_173512		165755107	165755107	-1	no_errors	ENST00000409149	ensembl	human	known	69_37n	missense	44	13.46	7	SNP	0.806	T
SLC5A9	200010	genome.wustl.edu	37	1	48713394	48713394	+	3'UTR	SNP	C	C	T	rs986027	byFrequency	TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr1:48713394C>T	ENST00000438567.2	+	0	2277				SLC5A9_ENST00000471020.1_3'UTR|SLC5A9_ENST00000236495.5_3'UTR	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						aaacagaagcccagagagagc	0.488													C|||	3374	0.673722	0.4425	0.8343	5008	,	,		18786	0.751		0.8062	False		,,,				2504	0.6564					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.*179C>T	1.37:g.48713394C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	RNA	SNP	-	NULL	ENST00000438567.2	37	NULL	CCDS30709.2	1																																																																																			SLC5A9	-	-	ENSG00000117834		0.488	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	11	0.00	0	C	XM_117174		48713394	48713394	+1	no_errors	ENST00000471020	ensembl	human	known	69_37n	rna	5	97.87	230	SNP	0.004	T
SNAP25	6616	genome.wustl.edu	37	20	10273586	10273586	+	Intron	SNP	G	G	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr20:10273586G>T	ENST00000254976.2	+	5	374				SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Missense_Mutation_p.A74S	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	CATGAAGGAGGCTGAGAAAAA	0.428																																						dbGAP											0													114.0	110.0	111.0					20																	10273586		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.164-223G>T	20.37:g.10273586G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A74S	ENST00000254976.2	37	c.220	CCDS13110.1	20	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411080	0.83340	.	.	ENSG00000132639	ENST00000304886	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.77377	0.4121	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.68209	-0.5469	7	0.17369	T	0.5	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	74	P60880-2	.	S	74	.	ENSP00000307341:A74S	A	+	1	0	SNAP25	10221586	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	GCT	SNAP25	-	superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000132639		0.428	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3	29	0.00	0	G	NM_130811		10273586	10273586	+1	no_errors	ENST00000304886	ensembl	human	known	69_37n	missense	5	70.59	12	SNP	1.000	T
SNHG14	104472715	genome.wustl.edu	37	15	25335144	25335144	+	RNA	SNP	C	C	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr15:25335144C>T	ENST00000546682.1	+	0	839				SNORD116-23_ENST00000384645.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000384430.1_RNA|SNORD116-20_ENST00000384529.1_lincRNA|SNORD116-20_ENST00000384507.1_lincRNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		TACCGTCATCCTCGTCGAACT	0.483																																						dbGAP											0													286.0	243.0	256.0					15																	25335144		876	1991	2867	-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25335144C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-22	-	-	ENSG00000207159		0.483	SNHG14-022	KNOWN	basic	antisense	SNORD116-22	HGNC	processed_transcript	OTTHUMT00000408281.1	76	0.00	0	C			25335144	25335144	+1	no_errors	ENST00000384430	ensembl	human	known	69_37n	rna	35	39.66	23	SNP	0.598	T
SOX6	55553	genome.wustl.edu	37	11	16205462	16205462	+	Missense_Mutation	SNP	G	G	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr11:16205462G>C	ENST00000352083.6	-	6	824	c.747C>G	c.(745-747)caC>caG	p.H249Q	SOX6_ENST00000316399.6_Missense_Mutation_p.H249Q|SOX6_ENST00000528429.1_Missense_Mutation_p.H249Q|SOX6_ENST00000528252.1_Missense_Mutation_p.H249Q|SOX6_ENST00000527619.1_Missense_Mutation_p.H252Q|SOX6_ENST00000396356.3_Missense_Mutation_p.H249Q			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	249	Gln-rich.				astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GATTAATTTTGTGCTGCTGTT	0.363																																						dbGAP											0													169.0	157.0	161.0					11																	16205462		2200	4294	6494	-	-	-	SO:0001583	missense	0			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.747C>G	11.37:g.16205462G>C	ENSP00000339876:p.His249Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.H249Q	ENST00000352083.6	37	c.747		11	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144831	0.57044	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.99105	-5.38;-5.3;-5.38;-5.43;-5.43;-5.3	5.18	5.18	0.71444	.	0.222920	0.46145	D	0.000311	D	0.97942	0.9323	L	0.54965	1.715	0.80722	D	1	B;B;B	0.18461	0.02;0.028;0.006	B;B;B	0.24269	0.012;0.052;0.017	D	0.96317	0.9233	10	0.66056	D	0.02	.	18.672	0.91514	0.0:0.0:1.0:0.0	.	249;249;252	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	Q	249;249;249;249;252;249	ENSP00000324948:H249Q;ENSP00000339876:H249Q;ENSP00000379644:H249Q;ENSP00000432134:H249Q;ENSP00000434455:H252Q;ENSP00000433233:H249Q	ENSP00000324948:H249Q	H	-	3	2	SOX6	16162038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.096000	0.94182	2.411000	0.81874	0.455000	0.32223	CAC	SOX6	-	NULL	ENSG00000110693		0.363	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	SOX6	HGNC	protein_coding	OTTHUMT00000386811.1	26	0.00	0	G	NM_033326		16205462	16205462	-1	no_errors	ENST00000352083	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	rs121912657		TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr17:7577124C>T	ENST00000269305.4	-	8	1003	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000420246.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000574684.1_5'Flank	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	272	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1737852}.|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	CAAACACGCACCTCAAAGCTG	0.527		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"""	133	Substitution - Missense(108)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)	large_intestine(23)|ovary(16)|lung(14)|breast(14)|oesophagus(11)|upper_aerodigestive_tract(9)|haematopoietic_and_lymphoid_tissue(9)|central_nervous_system(7)|bone(5)|stomach(4)|pancreas(4)|liver(4)|kidney(3)|urinary_tract(3)|endometrium(2)|thyroid(1)|vulva(1)|soft_tissue(1)|testis(1)|skin(1)	GRCh37	CM920676	TP53	M	rs121912657						62.0	54.0	57.0					17																	7577124		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.814G>A	17.37:g.7577124C>T	ENSP00000269305:p.Val272Met	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.V272M	ENST00000269305.4	37	c.814	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318455	0.81469	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99833	-7.03;-7.03;-7.03;-7.03;-7.03;-7.03	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057604	0.64402	D	0.000002	D	0.99843	0.9928	M	0.90309	3.105	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.96721	0.9532	10	0.87932	D	0	-27.8222	16.1198	0.81342	0.0:1.0:0.0:0.0	.	272;272;272;272	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	M	272;272;272;272;272;261;140	ENSP00000352610:V272M;ENSP00000269305:V272M;ENSP00000398846:V272M;ENSP00000391127:V272M;ENSP00000391478:V272M;ENSP00000425104:V140M	ENSP00000269305:V272M	V	-	1	0	TP53	7517849	1.000000	0.71417	0.986000	0.45419	0.849000	0.48306	5.871000	0.69628	2.667000	0.90743	0.462000	0.41574	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	28	0.00	0	C	NM_000546		7577124	7577124	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	16	52.94	18	SNP	1.000	T
SP6	80320	genome.wustl.edu	37	17	45925418	45925418	+	Silent	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr17:45925418G>A	ENST00000536300.1	-	2	709	c.378C>T	c.(376-378)ggC>ggT	p.G126G	SP6_ENST00000342234.2_Silent_p.G126G	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	126					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						TCCAGCTGGTGCCCGGATGAA	0.672																																						dbGAP											0													25.0	23.0	24.0					17																	45925418		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.378C>T	17.37:g.45925418G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXS4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G126	ENST00000536300.1	37	c.378	CCDS11520.1	17																																																																																			SP6	-	NULL	ENSG00000189120		0.672	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	43	0.00	0	G	NM_199262		45925418	45925418	-1	no_errors	ENST00000342234	ensembl	human	known	69_37n	silent	9	68.97	20	SNP	0.998	A
TPR	7175	genome.wustl.edu	37	1	186304471	186304471	+	Splice_Site	SNP	T	T	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr1:186304471T>A	ENST00000367478.4	-	34	5206	c.4910A>T	c.(4909-4911)aAg>aTg	p.K1637M		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1637					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCTAATCACCTTATTAGAAGG	0.393			T	NTRK1	papillary thyroid																																	dbGAP		Dom	yes		1	1q25	7175	translocated promoter region		E	0													114.0	102.0	106.0					1																	186304471		1871	4108	5979	-	-	-	SO:0001630	splice_region_variant	0			U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.4911+1A>T	1.37:g.186304471T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm	p.K1637M	ENST00000367478.4	37	c.4910	CCDS41446.1	1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.533990	0.85812	.	.	ENSG00000047410	ENST00000367478	T	0.26373	1.74	5.07	5.07	0.68467	.	0.043893	0.85682	D	0.000000	T	0.38532	0.1044	L	0.59436	1.845	0.80722	D	1	D	0.61697	0.99	P	0.53593	0.73	T	0.20974	-1.0259	10	0.56958	D	0.05	.	13.7038	0.62624	0.0:0.0:0.0:1.0	.	1637	P12270	TPR_HUMAN	M	1637	ENSP00000356448:K1637M	ENSP00000356448:K1637M	K	-	2	0	TPR	184571094	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.816000	0.75247	2.031000	0.59945	0.528000	0.53228	AAG	TPR	-	superfamily_Prefoldin	ENSG00000047410		0.393	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPR	HGNC	protein_coding	OTTHUMT00000086353.2	17	0.00	0	T	NM_003292	Missense_Mutation	186304471	186304471	-1	no_errors	ENST00000367478	ensembl	human	known	69_37n	missense	8	38.46	5	SNP	1.000	A
TRAPPC9	83696	genome.wustl.edu	37	8	141468379	141468379	+	5'Flank	SNP	C	C	G			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr8:141468379C>G	ENST00000438773.2	-	0	0				TRAPPC9_ENST00000389327.3_5'Flank|TRAPPC9_ENST00000389328.4_Splice_Site	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCGCCGcttaccagtccttca	0.642																																						dbGAP											0													30.0	25.0	27.0					8																	141468379		2151	4233	6384	-	-	-	SO:0001631	upstream_gene_variant	0			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187		8.37:g.141468379C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Splice_Site	SNP	-	e1+1	ENST00000438773.2	37	c.284+1	CCDS55278.1	8																																																																																			TRAPPC9	-	-	ENSG00000167632		0.642	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	43	0.00	0	C	NM_031466		141468379	141468379	-1	no_errors	ENST00000389328	ensembl	human	known	69_37n	splice_site	20	67.74	42	SNP	0.000	G
TSPAN4	7106	genome.wustl.edu	37	11	865764	865764	+	Missense_Mutation	SNP	C	C	T			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr11:865764C>T	ENST00000397404.1	+	7	762	c.503C>T	c.(502-504)tCc>tTc	p.S168F	TSPAN4_ENST00000397397.2_Missense_Mutation_p.S168F|TSPAN4_ENST00000397411.2_Missense_Mutation_p.S168F|TSPAN4_ENST00000409531.1_Missense_Mutation_p.S187F|TSPAN4_ENST00000397408.1_Missense_Mutation_p.S168F|TSPAN4_ENST00000397406.1_Missense_Mutation_p.S168F|TSPAN4_ENST00000409543.2_Missense_Mutation_p.S168F|TSPAN4_ENST00000397396.1_Missense_Mutation_p.S104F|TSPAN4_ENST00000525201.1_Missense_Mutation_p.S104F|TSPAN4_ENST00000346501.4_Missense_Mutation_p.S134F	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	168					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACCTGACTCCTGCTGCTTG	0.657																																						dbGAP											0													45.0	38.0	40.0					11																	865764		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.503C>T	11.37:g.865764C>T	ENSP00000380553:p.Ser168Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAP6	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.S168F	ENST00000397404.1	37	c.503	CCDS7721.1	11	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993794	0.74703	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531	T;T;T;T;T;T;T;T;T;D;T	0.89123	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-1.27;-2.47;-1.27	3.58	3.58	0.41010	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.95033	0.8392	M	0.90145	3.09	0.51012	D	0.999907	D	0.67145	0.996	D	0.72982	0.979	D	0.96243	0.9177	10	0.87932	D	0	.	15.4241	0.75038	0.0:1.0:0.0:0.0	.	168	O14817	TSN4_HUMAN	F	168;168;104;168;168;168;104;168;104;134;187	ENSP00000380552:S168F;ENSP00000380558:S168F;ENSP00000380551:S104F;ENSP00000380555:S168F;ENSP00000380554:S168F;ENSP00000386513:S168F;ENSP00000431943:S104F;ENSP00000380553:S168F;ENSP00000434818:S104F;ENSP00000324304:S134F;ENSP00000386899:S187F	ENSP00000324304:S134F	S	+	2	0	TSPAN4	855764	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.658000	0.61497	1.860000	0.53959	0.485000	0.47835	TCC	TSPAN4	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2	ENSG00000214063		0.657	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN4	HGNC	protein_coding	OTTHUMT00000257102.2	50	0.00	0	C			865764	865764	+1	no_errors	ENST00000397397	ensembl	human	known	69_37n	missense	20	53.49	23	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179466507	179466507	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr2:179466507G>A	ENST00000591111.1	-	236	50611	c.50387C>T	c.(50386-50388)aCt>aTt	p.T16796I	TTN_ENST00000342175.6_Missense_Mutation_p.T9564I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T9497I|TTN_ENST00000460472.2_Missense_Mutation_p.T9372I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T18437I|TTN_ENST00000342992.6_Missense_Mutation_p.T15869I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16796	Ig-like 101.				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)			GTTTTCAGCAGTCTCCAGCTG	0.323																																						dbGAP											0													91.0	84.0	86.0					2																	179466507		1823	4082	5905	-	-	-	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.50387C>T	2.37:g.179466507G>A	ENSP00000465570:p.Thr16796Ile	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.T15869I	ENST00000591111.1	37	c.47606		2	.	.	.	.	.	.	.	.	.	.	G	12.71	2.018666	0.35606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.96	5.96	0.96718	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66458	0.2791	L	0.45137	1.4	0.42393	D	0.992536	P;P;P;P	0.38677	0.642;0.642;0.642;0.491	B;B;B;B	0.40329	0.326;0.326;0.326;0.326	T	0.68973	-0.5268	9	0.87932	D	0	.	20.4082	0.99013	0.0:0.0:1.0:0.0	.	9372;9497;9564;16796	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	15869;9372;9564;9497;9372	ENSP00000343764:T15869I;ENSP00000434586:T9372I;ENSP00000340554:T9564I;ENSP00000352154:T9497I	ENSP00000340554:T9564I	T	-	2	0	TTN	179174752	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.548000	0.82154	2.814000	0.96858	0.655000	0.94253	ACT	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.323	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	29	0.00	0	G	NM_133378		179466507	179466507	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	33	26.67	12	SNP	1.000	A
USH1C	10083	genome.wustl.edu	37	11	17531092	17531092	+	Intron	SNP	C	C	T	rs201101932		TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr11:17531092C>T	ENST00000318024.4	-	16	1393				USH1C_ENST00000527020.1_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000005226.7_Silent_p.P608P	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAACGGATGGCGGGGGAGGGA	0.662																																						dbGAP											0													21.0	23.0	23.0					11																	17531092		2200	4292	6492	-	-	-	SO:0001627	intron_variant	0			AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7565G>A	11.37:g.17531092C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.P608	ENST00000318024.4	37	c.1824	CCDS31438.1	11																																																																																			USH1C	-	NULL	ENSG00000006611		0.662	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USH1C	HGNC	protein_coding	OTTHUMT00000389146.1	15	0.00	0	C	NM_005709		17531092	17531092	-1	no_errors	ENST00000005226	ensembl	human	known	69_37n	silent	4	50.00	5	SNP	0.732	T
VEGFC	7424	genome.wustl.edu	37	4	177608425	177608425	+	Missense_Mutation	SNP	T	T	C			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr4:177608425T>C	ENST00000280193.2	-	6	1476	c.1061A>G	c.(1060-1062)aAt>aGt	p.N354S	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA|VEGFC_ENST00000507638.1_5'Flank	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	354	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTTTCCAGGATTTAGGGGTTG	0.438																																						dbGAP											0													258.0	230.0	239.0					4																	177608425		1844	4094	5938	-	-	-	SO:0001583	missense	0			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1061A>G	4.37:g.177608425T>C	ENSP00000280193:p.Asn354Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q8	Missense_Mutation	SNP	pfam_PD_growth_factor,pfam_CXCXC_repeat,smart_PD_growth_factor,pfscan_PD_growth_factor	p.N354S	ENST00000280193.2	37	c.1061	CCDS43285.1	4	.	.	.	.	.	.	.	.	.	.	T	23.0	4.365545	0.82463	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.77294	-0.2641	9	0.54805	T	0.06	-21.4834	15.8108	0.78561	0.0:0.0:0.0:1.0	.	354	P49767	VEGFC_HUMAN	S	354	.	ENSP00000280193:N354S	N	-	2	0	VEGFC	177845419	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.495000	0.81514	2.125000	0.65367	0.528000	0.53228	AAT	VEGFC	-	NULL	ENSG00000150630		0.438	VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEGFC	HGNC	protein_coding	OTTHUMT00000361991.1	82	0.00	0	T	NM_005429		177608425	177608425	-1	no_errors	ENST00000280193	ensembl	human	known	69_37n	missense	47	38.16	29	SNP	1.000	C
ZNF500	26048	genome.wustl.edu	37	16	4815636	4815636	+	Missense_Mutation	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr16:4815636G>A	ENST00000219478.6	-	2	643	c.344C>T	c.(343-345)cCg>cTg	p.P115L	ZNF500_ENST00000545009.1_Missense_Mutation_p.P115L			O60304	ZN500_HUMAN	zinc finger protein 500	115	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						ACCGCTCTCCGGCTGCTGCTC	0.652																																						dbGAP											0													41.0	41.0	41.0					16																	4815636		2197	4299	6496	-	-	-	SO:0001583	missense	0			AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.344C>T	16.37:g.4815636G>A	ENSP00000219478:p.Pro115Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P115L	ENST00000219478.6	37	c.344	CCDS32383.1	16	.	.	.	.	.	.	.	.	.	.	G	21.0	4.078770	0.76528	.	.	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.07800	3.16;3.16	3.94	3.94	0.45596	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.26268	0.0641	M	0.76170	2.325	0.41231	D	0.986572	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.01504	-1.1338	9	0.51188	T	0.08	.	11.4748	0.50291	0.0:0.0:1.0:0.0	.	115;115	B4DNN9;O60304	.;ZN500_HUMAN	L	115	ENSP00000445714:P115L;ENSP00000219478:P115L	ENSP00000219478:P115L	P	-	2	0	ZNF500	4755637	0.801000	0.28930	0.993000	0.49108	0.976000	0.68499	2.740000	0.47418	1.765000	0.52091	0.655000	0.94253	CCG	ZNF500	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000103199		0.652	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF500	HGNC	protein_coding	OTTHUMT00000432461.1	57	0.00	0	G	XM_085507		4815636	4815636	-1	no_errors	ENST00000219478	ensembl	human	known	69_37n	missense	41	22.64	12	SNP	0.999	A
ZNF808	388558	genome.wustl.edu	37	19	53058311	53058311	+	Silent	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr19:53058311G>A	ENST00000359798.4	+	5	2322	c.2142G>A	c.(2140-2142)aaG>aaA	p.K714K		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	714					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTGCAGCAAGACCTTCAGTA	0.433																																						dbGAP											0													232.0	225.0	227.0					19																	53058311		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2142G>A	19.37:g.53058311G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CN7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K645	ENST00000359798.4	37	c.1935	CCDS46167.1	19																																																																																			ZNF808	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198482		0.433	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	37	0.00	0	G	NM_001039886		53058311	53058311	+1	no_errors	ENST00000487863	ensembl	human	known	69_37n	silent	54	15.62	10	SNP	0.614	A
ZNF805	390980	genome.wustl.edu	37	19	57765471	57765471	+	Silent	SNP	G	G	A			TCGA-OL-A5D7-01A-11D-A27P-09	TCGA-OL-A5D7-10A-01D-A27P-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	eec1b52b-f280-4731-8860-a57a790cdaac	1928b73f-4080-4d99-980f-7b7cd456a955	g.chr19:57765471G>A	ENST00000414468.2	+	4	1284	c.1284G>A	c.(1282-1284)gtG>gtA	p.V428V	ZNF805_ENST00000535550.1_Silent_p.V295V|ZNF805_ENST00000354309.4_Silent_p.V295V	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	428					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						AGCCATATGTGTGTAGTGAAT	0.512																																						dbGAP											0													35.0	38.0	37.0					19																	57765471		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AF024708	CCDS46207.1, CCDS46208.1	19q13.43	2013-01-08			ENSG00000204524	ENSG00000204524		"""Zinc fingers, C2H2-type"", ""-"""	23272	protein-coding gene	gene with protein product							Standard	NM_001023563		Approved		uc010ygt.2	Q5CZA5		ENST00000414468.2:c.1284G>A	19.37:g.57765471G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DNM5	Silent	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.V428	ENST00000414468.2	37	c.1284	CCDS46207.1	19																																																																																			ZNF805	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000204524		0.512	ZNF805-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF805	HGNC	protein_coding	OTTHUMT00000465722.1	25	0.00	0	G	NM_001023563		57765471	57765471	+1	no_errors	ENST00000414468	ensembl	human	known	69_37n	silent	20	41.18	14	SNP	0.440	A
