#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABI2	10152	genome.wustl.edu	37	2	204255850	204255850	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:204255850G>T	ENST00000422511.2	+	5	593	c.562G>T	c.(562-564)Ggg>Tgg	p.G188W	ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000261016.6_Missense_Mutation_p.G137W|ABI2_ENST00000424558.1_Missense_Mutation_p.G182W|ABI2_ENST00000295851.5_Missense_Mutation_p.G188W|ABI2_ENST00000261017.5_Missense_Mutation_p.G182W|ABI2_ENST00000430418.1_Missense_Mutation_p.G182W|ABI2_ENST00000261018.7_Missense_Mutation_p.G23W			Q9NYB9	ABI2_HUMAN	abl-interactor 2	188	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|cell migration (GO:0016477)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|Rac protein signal transduction (GO:0016601)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	cytoskeletal adaptor activity (GO:0008093)|DNA binding (GO:0003677)|kinase binding (GO:0019900)|proline-rich region binding (GO:0070064)|protein complex binding (GO:0032403)|SH3 domain binding (GO:0017124)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCCTATGTCAGGGAAAGGGAC	0.383																																																	0																																										SO:0001583	missense	0			AF260261	CCDS2358.1, CCDS63093.1, CCDS63094.1, CCDS74634.1	2q33	2010-09-20	2009-07-23		ENSG00000138443	ENSG00000138443			24011	protein-coding gene	gene with protein product		606442				7590236, 10964520	Standard	XM_005246217		Approved	ABI-2, AIP-1, ABI2B, AblBP3, argBPIA, SSH3BP2	uc002uzz.3	Q9NYB9	OTTHUMG00000132879	ENST00000422511.2:c.562G>T	2.37:g.204255850G>T	ENSP00000396249:p.Gly188Trp		B4DSN1|Q13147|Q13249|Q13801|Q9BV70	Missense_Mutation	SNP	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox	p.G188W	ENST00000422511.2	37	c.562		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.506370|4.506370	0.85282|0.85282	.|.	.|.	ENSG00000138443|ENSG00000138443	ENST00000295851;ENST00000261017;ENST00000430418;ENST00000424558;ENST00000261016;ENST00000417864;ENST00000422511;ENST00000261018|ENST00000451591;ENST00000454023	D;D;D;D;D;D;D;D|.	0.97161|.	-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27;-4.27|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73481|0.73481	0.3592|0.3592	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D;D|.	0.91635|.	0.996;0.996;0.996;0.999;0.999;0.996;0.999;0.998;0.999|.	T|T	0.69767|0.69767	-0.5056|-0.5056	10|5	0.87932|.	D|.	0|.	-11.8148|-11.8148	19.7992|19.7992	0.96500|0.96500	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	23;23;23;126;182;182;137;188;182|.	B7Z5L1;B7Z612;B4DMM5;B7Z836;Q9NYB9-4;E9PEZ7;Q9NYB9-3;Q9NYB9;Q9NYB9-2|.	.;.;.;.;.;.;.;ABI2_HUMAN;.|.	W|H	188;182;182;182;137;188;188;23|53;28	ENSP00000295851:G188W;ENSP00000261017:G182W;ENSP00000408898:G182W;ENSP00000391433:G182W;ENSP00000261016:G137W;ENSP00000414703:G188W;ENSP00000396249:G188W;ENSP00000261018:G23W|.	ENSP00000261016:G137W|.	G|Q	+|+	1|3	0|2	ABI2|ABI2	203964095|203964095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.225000|9.225000	0.95219|0.95219	2.665000|2.665000	0.90641|0.90641	0.591000|0.591000	0.81541|0.81541	GGG|CAG	ABI2	-	NULL	ENSG00000138443		0.383	ABI2-007	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	ABI2	HGNC	protein_coding	OTTHUMT00000336179.2	-	0.00	37	0	G	NM_005759		204255850	+1	tier1	-	no_errors	ENST00000295851	ensembl	human	known	74_37	missense	83.33	6	30	SNP	1.000	T
AK8	158067	genome.wustl.edu	37	9	135702310	135702310	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:135702310T>C	ENST00000298545.3	-	8	1209	c.688A>G	c.(688-690)Att>Gtt	p.I230V	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	230	Adenylate kinase 1.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TAGGAGGGAATGACCCTGACG	0.532																																																	0													244.0	211.0	222.0					9																	135702310		2203	4300	6503	SO:0001583	missense	0			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.688A>G	9.37:g.135702310T>C	ENSP00000298545:p.Ile230Val		A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.I230V	ENST00000298545.3	37	c.688	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	T	8.185	0.794667	0.16327	.	.	ENSG00000165695	ENST00000298545	T	0.78816	-1.21	5.34	-0.241	0.13043	.	0.913436	0.09445	N	0.801182	T	0.54367	0.1854	N	0.12182	0.205	0.09310	N	1	B	0.12013	0.005	B	0.21151	0.033	T	0.35919	-0.9769	10	0.14252	T	0.57	-10.0822	4.2475	0.10679	0.269:0.0:0.1929:0.538	.	230	Q96MA6	KAD8_HUMAN	V	230	ENSP00000298545:I230V	ENSP00000298545:I230V	I	-	1	0	AK8	134692131	0.992000	0.36948	0.066000	0.19879	0.860000	0.49131	0.350000	0.20079	-0.100000	0.12241	0.374000	0.22700	ATT	AK8	-	pfam_Adenylate_kin,superfamily_P-loop_NTPase	ENSG00000165695		0.532	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	-	0.00	85	0	T	NM_152572		135702310	-1	tier1	-	no_errors	ENST00000298545	ensembl	human	known	74_37	missense	22.73	85	25	SNP	0.029	C
AK8	158067	genome.wustl.edu	37	9	135750508	135750508	+	Missense_Mutation	SNP	C	C	T	rs376201961		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:135750508C>T	ENST00000298545.3	-	2	684	c.163G>A	c.(163-165)Gac>Aac	p.D55N	C9orf9_ENST00000372136.3_5'Flank|AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	55					nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCACCATTGTCGTTGTCTCTA	0.587																																																	0								C	ASN/ASP	0,4406		0,0,2203	302.0	225.0	251.0		163	3.9	0.0	9		251	1,8599	1.2+/-3.3	0,1,4299	no	missense	AK8	NM_152572.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	55/480	135750508	1,13005	2203	4300	6503	SO:0001583	missense	0			AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.163G>A	9.37:g.135750508C>T	ENSP00000298545:p.Asp55Asn		A8K821|Q8N9W9	Missense_Mutation	SNP	pfam_Adenylate_kin,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin	p.D55N	ENST00000298545.3	37	c.163	CCDS6954.1	9	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361235	0.41801	0.0	1.16E-4	ENSG00000165695	ENST00000298545	T	0.67865	-0.29	4.77	3.87	0.44632	.	0.295885	0.32868	N	0.005547	T	0.63438	0.2511	M	0.64997	1.995	0.09310	N	1	B	0.27910	0.193	B	0.30943	0.122	T	0.60393	-0.7272	10	0.72032	D	0.01	-19.788	10.5141	0.44879	0.0:0.909:0.0:0.091	.	55	Q96MA6	KAD8_HUMAN	N	55	ENSP00000298545:D55N	ENSP00000298545:D55N	D	-	1	0	AK8	134740329	0.086000	0.21541	0.003000	0.11579	0.141000	0.21300	1.645000	0.37238	0.982000	0.38575	0.511000	0.50034	GAC	AK8	-	superfamily_cAMP_dep_PK_reg_su_I/II_a/b	ENSG00000165695		0.587	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK8	HGNC	protein_coding	OTTHUMT00000055413.1	-	0.00	68	0	C	NM_152572		135750508	-1	tier1	-	no_errors	ENST00000298545	ensembl	human	known	74_37	missense	30.77	108	48	SNP	0.058	T
ALG1	56052	genome.wustl.edu	37	16	5121961	5121961	+	Silent	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:5121961G>A	ENST00000262374.5	+	1	142	c.111G>A	c.(109-111)gcG>gcA	p.A37A	ALG1_ENST00000588623.1_Intron|ALG1_ENST00000544428.1_5'Flank	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	37					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ATGTAGTAGCGGTGGTGCTGG	0.697																																																	0													8.0	10.0	9.0					16																	5121961		2179	4262	6441	SO:0001819	synonymous_variant	0			AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.111G>A	16.37:g.5121961G>A			B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Silent	SNP	pfam_Glyco_trans_1	p.A37	ENST00000262374.5	37	c.111	CCDS10528.1	16																																																																																			ALG1	-	NULL	ENSG00000033011		0.697	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG1	HGNC	protein_coding	OTTHUMT00000251716.2	-	0.00	36	0	G	NM_019109		5121961	+1	tier1	-	no_errors	ENST00000262374	ensembl	human	known	74_37	silent	30.30	23	10	SNP	0.412	A
APOB	338	genome.wustl.edu	37	2	21247744	21247744	+	Intron	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:21247744G>A	ENST00000233242.1	-	16	2564				APOB_ENST00000399256.4_Silent_p.R803R	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B						artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGAGTCTGGGCGATCTAAAA	0.527																																																	0																																										SO:0001627	intron_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.2436+60C>T	2.37:g.21247744G>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.R803	ENST00000233242.1	37	c.2409	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.527	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0.00	43	0	G			21247744	-1	tier1	-	no_errors	ENST00000399256	ensembl	human	putative	74_37	silent	20.83	19	5	SNP	0.001	A
B3GALTL	145173	genome.wustl.edu	37	13	31860936	31860936	+	Silent	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr13:31860936G>T	ENST00000343307.4	+	12	1193	c.1044G>T	c.(1042-1044)gtG>gtT	p.V348V		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	348					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		TAGTCATTGTGGATGATGATA	0.333																																																	0													109.0	105.0	106.0					13																	31860936		2203	4299	6502	SO:0001819	synonymous_variant	0			AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.1044G>T	13.37:g.31860936G>T			A8K5F8|Q5W0H2|Q6NUI3	Silent	SNP	pfam_Fringe-like	p.V348	ENST00000343307.4	37	c.1044	CCDS9341.1	13																																																																																			B3GALTL	-	pfam_Fringe-like	ENSG00000187676		0.333	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	HGNC	protein_coding	OTTHUMT00000044396.3	-	0.00	73	0	G	NM_194318		31860936	+1	tier1	-	no_errors	ENST00000343307	ensembl	human	known	74_37	silent	11.54	69	9	SNP	1.000	T
C3	718	genome.wustl.edu	37	19	6690725	6690725	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr19:6690725T>C	ENST00000245907.6	-	27	3496	c.3404A>G	c.(3403-3405)aAc>aGc	p.N1135S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1135					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTCGTTGTTGTTCCGTAATCC	0.532																																																	0													140.0	111.0	121.0					19																	6690725		2203	4300	6503	SO:0001583	missense	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.3404A>G	19.37:g.6690725T>C	ENSP00000245907:p.Asn1135Ser		A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain	p.N1135S	ENST00000245907.6	37	c.3404	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434841	0.25813	.	.	ENSG00000125730	ENST00000245907	T	0.36878	1.23	5.69	2.12	0.27331	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.574390	0.16876	N	0.195907	T	0.17831	0.0428	N	0.12502	0.225	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14811	-1.0459	10	0.51188	T	0.08	.	4.4498	0.11614	0.0:0.2164:0.1715:0.6121	.	1135	P01024	CO3_HUMAN	S	1135	ENSP00000245907:N1135S	ENSP00000245907:N1135S	N	-	2	0	C3	6641725	0.006000	0.16342	0.000000	0.03702	0.101000	0.19017	1.929000	0.40114	0.403000	0.25479	0.402000	0.26972	AAC	C3	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000125730		0.532	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	-	0.00	66	0	T	NM_000064		6690725	-1	tier1	-	no_errors	ENST00000245907	ensembl	human	known	74_37	missense	44.44	30	24	SNP	0.000	C
CNR2	1269	genome.wustl.edu	37	1	24201571	24201571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:24201571G>T	ENST00000374472.4	-	2	698	c.537C>A	c.(535-537)tgC>tgA	p.C179*	CNR2_ENST00000536471.1_Nonsense_Mutation_p.C179*	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	179					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	AAAGCTCAGAGCAGGGCCTGG	0.572																																																	0													61.0	62.0	62.0					1																	24201571		2203	4300	6503	SO:0001587	stop_gained	0			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.537C>A	1.37:g.24201571G>T	ENSP00000363596:p.Cys179*		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.C179*	ENST00000374472.4	37	c.537	CCDS245.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.026834	0.97216	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	.	.	.	5.92	1.97	0.26223	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.901	0.41348	0.3944:0.0:0.6056:0.0	.	.	.	.	X	179	.	ENSP00000363596:C179X	C	-	3	2	CNR2	24074158	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	2.493000	0.45320	0.109000	0.17891	0.650000	0.86243	TGC	CNR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Cnbnoid_rcpt	ENSG00000188822		0.572	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR2	HGNC	protein_coding	OTTHUMT00000038949.1		0.00	77	0	G	NM_001841		24201571	-1			no_errors	ENST00000374472	ensembl	human	known	74_37	nonsense	5.06	74	4	SNP	1.000	T
CD244	51744	genome.wustl.edu	37	1	160808623	160808623	+	Intron	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:160808623G>T	ENST00000368033.3	-	4	864				CD244_ENST00000481677.1_5'UTR|CD244_ENST00000322302.7_Intron|CD244_ENST00000368034.4_Intron|CD244_ENST00000368032.2_Intron			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGCTCGTTGAGGAAAAGGAGA	0.562																																																	0																																										SO:0001627	intron_variant	0			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.781+105C>A	1.37:g.160808623G>T			Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	RNA	SNP	-	NULL	ENST00000368033.3	37	NULL	CCDS53399.1	1																																																																																			CD244	-	-	ENSG00000122223		0.562	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	-	0.00	22	0	G	NM_016382		160808623	-1	tier1	-	no_errors	ENST00000481677	ensembl	human	known	74_37	rna	17.86	23	5	SNP	0.000	T
CTDSP1	58190	genome.wustl.edu	37	2	219267102	219267102	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:219267102G>C	ENST00000273062.2	+	4	688	c.352G>C	c.(352-354)Gtg>Ctg	p.V118L	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Missense_Mutation_p.V117L|MIR26B_ENST00000362251.2_RNA	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	118	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATCATCCCTGTGGAGATTGA	0.622																																																	0													86.0	83.0	84.0					2																	219267102		2203	4300	6503	SO:0001583	missense	0			AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.352G>C	2.37:g.219267102G>C	ENSP00000273062:p.Val118Leu		C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	p.V118L	ENST00000273062.2	37	c.352	CCDS2416.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534586	0.85812	.	.	ENSG00000144579	ENST00000443891;ENST00000273062	T;T	0.17370	2.28;2.28	4.97	4.1	0.47936	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.76170	2.325	0.80722	D	1	B;B	0.33841	0.428;0.428	B;B	0.44085	0.44;0.44	T	0.09818	-1.0657	10	0.72032	D	0.01	-15.1749	12.9216	0.58234	0.0799:0.0:0.9201:0.0	.	118;117	Q9GZU7;C9IYG0	CTDS1_HUMAN;.	L	117;118	ENSP00000392248:V117L;ENSP00000273062:V118L	ENSP00000273062:V118L	V	+	1	0	CTDSP1	218975346	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.396000	0.97270	1.066000	0.40716	0.561000	0.74099	GTG	CTDSP1	-	pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase	ENSG00000144579		0.622	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSP1	HGNC	protein_coding	OTTHUMT00000256774.1	-	0.00	76	0	G	NM_182642, NM_021198		219267102	+1	tier1	-	no_errors	ENST00000273062	ensembl	human	known	74_37	missense	69.57	21	48	SNP	1.000	C
CTPS2	56474	genome.wustl.edu	37	X	16609020	16609020	+	Intron	DEL	A	A	-			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chrX:16609020delA	ENST00000443824.1	-	18	2435				CTPS2_ENST00000359276.4_Intron|CTPS2_ENST00000380241.3_Intron|CTPS2_ENST00000483053.1_5'UTR	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2						'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					AGCAAGGTATAAAAAAAAAAC	0.323																																																	0													47.0	44.0	45.0					X																	16609020		2203	4300	6503	SO:0001627	intron_variant	0			AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1692-35T>-	X.37:g.16609020delA			B3KWM2|Q9BRI0|Q9H809|Q9H8K9	RNA	DEL	-	NULL	ENST00000443824.1	37	NULL	CCDS14175.1	X																																																																																			CTPS2	-	-	ENSG00000047230		0.323	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CTPS2	HGNC	protein_coding	OTTHUMT00000055906.1		0.00	9	0	A	NM_019857		16609020	-1	tier1		no_errors	ENST00000483053	ensembl	human	known	74_37	rna	18.75	13	3	DEL	0.000	-
CX3CL1	6376	genome.wustl.edu	37	16	57416011	57416011	+	Silent	SNP	G	G	A	rs373682759		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:57416011G>A	ENST00000006053.6	+	3	372	c.261G>A	c.(259-261)caG>caA	p.Q87Q	CX3CL1_ENST00000565912.1_Silent_p.Q49Q|CX3CL1_ENST00000564948.1_Missense_Mutation_p.S47N|CX3CL1_ENST00000563383.1_Silent_p.Q93Q	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	87	Chemokine.				angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						ACGCGATGCAGCATCTGGACC	0.612																																																	0								G		0,4396		0,0,2198	70.0	68.0	68.0		261	0.8	0.0	16		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CX3CL1	NM_002996.3		0,1,6497	AA,AG,GG		0.0116,0.0,0.0077		87/398	57416011	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	0			U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.261G>A	16.37:g.57416011G>A			O00672	Missense_Mutation	SNP	NULL	p.S47N	ENST00000006053.6	37	c.140	CCDS10779.1	16																																																																																			CX3CL1	-	NULL	ENSG00000006210		0.612	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	HGNC	protein_coding	OTTHUMT00000257345.3	-	0.00	58	0	G	NM_002996		57416011	+1	tier1	-	no_errors	ENST00000564948	ensembl	human	putative	74_37	missense	46.84	42	37	SNP	0.000	A
CXXC1	30827	genome.wustl.edu	37	18	47810910	47810911	+	In_Frame_Ins	INS	-	-	GCC			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr18:47810910_47810911insGCC	ENST00000285106.6	-	9	1756_1757	c.1042_1043insGGC	c.(1042-1044)cat>cGGCat	p.347_348insR	MBD1_ENST00000382948.5_5'Flank|MBD1_ENST00000587605.1_5'Flank|MBD1_ENST00000269468.5_5'Flank|MBD1_ENST00000590208.1_5'Flank|CXXC1_ENST00000589940.1_In_Frame_Ins_p.347_348insR|MBD1_ENST00000347968.3_5'Flank|CXXC1_ENST00000412036.2_In_Frame_Ins_p.351_352insR|MBD1_ENST00000591416.1_5'Flank|MBD1_ENST00000436910.1_5'Flank|CXXC1_ENST00000587396.1_5'Flank|MBD1_ENST00000349085.2_5'Flank|MBD1_ENST00000269471.5_5'Flank	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	347	Arg/Lys-rich (basic).				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CTTCTGCCGATGCCGCTTGTAT	0.584																																																	0																																										SO:0001652	inframe_insertion	0			BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.1040_1042dupGGC	18.37:g.47810911_47810913dupGCC	ENSP00000285106:p.Arg348_Arg349dup		B2RC03|Q8N2W4|Q96BC8|Q9P2V7	In_Frame_Ins	INS	pfam_CpG-bd_C,pfam_Znf_CXXC,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.352in_frame_insR	ENST00000285106.6	37	c.1055_1054	CCDS11945.1	18																																																																																			CXXC1	-	NULL	ENSG00000154832		0.584	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXXC1	HGNC	protein_coding	OTTHUMT00000255927.2		0.00	44	0	-	NM_014593		47810911	-1	tier1		no_errors	ENST00000412036	ensembl	human	known	74_37	in_frame_ins	41.67	14	10	INS	1.000:1.000	GCC
CYTH3	9265	genome.wustl.edu	37	7	6210543	6210543	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr7:6210543C>T	ENST00000350796.3	-	8	765	c.629G>A	c.(628-630)cGt>cAt	p.R210H	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.R125H	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	210					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GGGCTTGTCACGCACGTTGTG	0.637																																																	0													155.0	112.0	127.0					7																	6210543		2203	4300	6503	SO:0001583	missense	0			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.629G>A	7.37:g.6210543C>T	ENSP00000297044:p.Arg210His		A4D2N8	Missense_Mutation	SNP	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom	p.R210H	ENST00000350796.3	37	c.629	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.393179	0.96009	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.55413	0.52;0.52	5.48	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.71213	0.3313	M	0.90145	3.09	0.58432	D	0.999999	P;P	0.49090	0.859;0.919	P;B	0.53102	0.718;0.295	T	0.78650	-0.2121	10	0.87932	D	0	.	14.1699	0.65503	0.0:0.9276:0.0:0.0724	.	125;210	B7Z2V9;O43739-2	.;.	H	210;125	ENSP00000297044:R210H;ENSP00000379967:R125H	ENSP00000297044:R210H	R	-	2	0	CYTH3	6177068	1.000000	0.71417	0.839000	0.33178	0.992000	0.81027	4.797000	0.62503	1.322000	0.45245	0.655000	0.94253	CGT	CYTH3	-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom	ENSG00000008256		0.637	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	-	0.00	80	0	C	NM_004227		6210543	-1	tier1	-	no_errors	ENST00000350796	ensembl	human	known	74_37	missense	29.63	57	24	SNP	0.998	T
DNASE1	1773	genome.wustl.edu	37	16	3705487	3705487	+	Missense_Mutation	SNP	T	T	A	rs369619441		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:3705487T>A	ENST00000246949.5	+	2	3322	c.113T>A	c.(112-114)aTg>aAg	p.M38K	DNASE1_ENST00000414110.2_5'UTR|DNASE1_ENST00000407479.1_Missense_Mutation_p.M38K	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	38					apoptotic process (GO:0006915)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	deoxyribonuclease I activity (GO:0004530)			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)		GAGACCAAGATGTCCAATGCC	0.632																																																	0													78.0	65.0	70.0					16																	3705487		2197	4300	6497	SO:0001583	missense	0				CCDS10507.1	16p13.3	2008-02-05			ENSG00000213918	ENSG00000213918	3.1.21.1		2956	protein-coding gene	gene with protein product		125505		DNL1		2349940	Standard	XM_005255148		Approved		uc002cvr.3	P24855	OTTHUMG00000129426	ENST00000246949.5:c.113T>A	16.37:g.3705487T>A	ENSP00000246949:p.Met38Lys		B4DV35|Q14UU9|Q14UV0	Missense_Mutation	SNP	pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I	p.M38K	ENST00000246949.5	37	c.113	CCDS10507.1	16	.	.	.	.	.	.	.	.	.	.	T	16.00	2.997943	0.54147	.	.	ENSG00000213918	ENST00000407479;ENST00000246949	T;T	0.50548	0.74;0.74	5.39	5.39	0.77823	Endonuclease/exonuclease/phosphatase (2);	0.204181	0.53938	D	0.000052	T	0.51024	0.1650	M	0.72118	2.19	0.80722	D	1	P	0.49253	0.921	P	0.45099	0.469	T	0.52593	-0.8555	10	0.33141	T	0.24	-1.2812	13.1437	0.59448	0.0:0.0:0.0:1.0	.	38	P24855	DNAS1_HUMAN	K	38	ENSP00000385905:M38K;ENSP00000246949:M38K	ENSP00000246949:M38K	M	+	2	0	DNASE1	3645488	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.098000	0.41757	2.057000	0.61298	0.459000	0.35465	ATG	DNASE1	-	pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I	ENSG00000213918		0.632	DNASE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1	HGNC	protein_coding	OTTHUMT00000251585.2	-	0.00	100	0	T			3705487	+1	tier1	-	no_errors	ENST00000246949	ensembl	human	known	74_37	missense	5.00	114	6	SNP	1.000	A
DPH5	51611	genome.wustl.edu	37	1	101456046	101456046	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:101456046delA	ENST00000370109.3	-	8	888	c.776delT	c.(775-777)atafs	p.I259fs	DPH5_ENST00000370105.3_5'UTR|AC093157.1_ENST00000593496.1_Frame_Shift_Del_p.M14fs|DPH5_ENST00000488176.1_Frame_Shift_Del_p.I259fs|DPH5_ENST00000427040.2_Frame_Shift_Del_p.I20fs|DPH5_ENST00000342173.7_Frame_Shift_Del_p.I258fs	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	259					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CATTGGATGTATGCTGCCTCC	0.433																																																	0													153.0	148.0	149.0					1																	101456046		2063	4199	6262	SO:0001589	frameshift_variant	0			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.776delT	1.37:g.101456046delA	ENSP00000359127:p.Ile259fs		A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Frame_Shift_Del	DEL	pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	p.I259fs	ENST00000370109.3	37	c.776	CCDS41358.1	1																																																																																			DPH5	-	superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase	ENSG00000117543		0.433	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPH5	HGNC	protein_coding	OTTHUMT00000029881.1		0.00	65	0	A	NM_015958		101456046	-1	tier1		no_errors	ENST00000370109	ensembl	human	known	74_37	frame_shift_del	33.33	54	27	DEL	0.984	-
EHMT1	79813	genome.wustl.edu	37	9	140657246	140657246	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:140657246A>C	ENST00000460843.1	+	10	1648	c.1621A>C	c.(1621-1623)Atg>Ctg	p.M541L	EHMT1_ENST00000334856.6_Missense_Mutation_p.M510L|EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.M541L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	541					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CAACCAGTGCATGGCTACAGA	0.567																																																	0													102.0	85.0	91.0					9																	140657246		2203	4300	6503	SO:0001583	missense	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.1621A>C	9.37:g.140657246A>C	ENSP00000417980:p.Met541Leu		B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.M541L	ENST00000460843.1	37	c.1621	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369264	0.61624	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.71103	1.49;0.71;-0.54	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.72558	0.3475	M	0.76328	2.33	0.58432	D	0.999999	B;P;P	0.42296	0.271;0.775;0.775	B;B;B	0.41236	0.103;0.268;0.351	T	0.77250	-0.2657	10	0.62326	D	0.03	.	14.822	0.70080	1.0:0.0:0.0:0.0	.	541;510;541	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	L	510;510;541;541	ENSP00000334476:M510L;ENSP00000417328:M541L;ENSP00000417980:M541L	ENSP00000334476:M510L	M	+	1	0	EHMT1	139777067	1.000000	0.71417	1.000000	0.80357	0.419000	0.31324	9.079000	0.94032	1.998000	0.58463	0.533000	0.62120	ATG	EHMT1	-	NULL	ENSG00000181090		0.567	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	-	0.00	66	0	A	NM_024757		140657246	+1	tier1	-	no_errors	ENST00000460843	ensembl	human	known	74_37	missense	73.86	23	65	SNP	1.000	C
ELP5	23587	genome.wustl.edu	37	17	7156110	7156110	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:7156110G>T	ENST00000396628.2	+	2	333	c.116G>T	c.(115-117)cGc>cTc	p.R39L	CTDNEP1_ENST00000318988.6_5'Flank|ELP5_ENST00000356683.2_Missense_Mutation_p.R39L|CTDNEP1_ENST00000574322.1_5'Flank|ELP5_ENST00000574993.1_Missense_Mutation_p.R39L|CTDNEP1_ENST00000572043.1_5'Flank|RP1-4G17.5_ENST00000577138.1_Intron|CTDNEP1_ENST00000573600.1_5'Flank|ELP5_ENST00000396627.2_Missense_Mutation_p.R39L|ELP5_ENST00000354429.2_Missense_Mutation_p.R39L|ELP5_ENST00000574255.1_Missense_Mutation_p.R39L|ELP5_ENST00000573657.1_Missense_Mutation_p.R39L	NM_203414.1	NP_981959.1	Q8TE02	ELP5_HUMAN	elongator acetyltransferase complex subunit 5	39					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Elongator holoenzyme complex (GO:0033588)|nucleus (GO:0005634)											TGGGAGGGGCGCAGTCTCTTG	0.587																																																	0													70.0	70.0	70.0					17																	7156110		2203	4300	6503	SO:0001583	missense	0			BC002762	CCDS11094.1, CCDS11095.1	17p13.1	2012-08-14	2012-08-08	2012-08-08	ENSG00000170291	ENSG00000170291		"""Elongator acetyltransferase complex subunits"""	30617	protein-coding gene	gene with protein product	"""dermal papilla derived protein 6"", ""S-phase 2 protein"""	615019	"""chromosome 17 open reading frame 81"""	C17orf81		22854966	Standard	NM_203415		Approved	DERP6	uc002gfi.1	Q8TE02	OTTHUMG00000177974	ENST00000396628.2:c.116G>T	17.37:g.7156110G>T	ENSP00000379869:p.Arg39Leu		A8K1M5|D3DTN9|Q659B6|Q7Z2T4|Q8TDR9|Q9BUB2|Q9Y2Q4	Missense_Mutation	SNP	pfam_Elp5	p.R39L	ENST00000396628.2	37	c.116	CCDS11094.1	17	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569341	0.86439	.	.	ENSG00000170291	ENST00000354429;ENST00000396628;ENST00000396627;ENST00000356683	T;T;T;T	0.61040	0.97;0.97;0.97;0.14	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.72495	0.3467	M	0.68952	2.095	0.52501	D	0.999951	D;D;D;D	0.89917	1.0;0.996;1.0;1.0	D;D;D;D	0.91635	0.997;0.992;0.999;0.998	T	0.75379	-0.3338	10	0.87932	D	0	-15.3871	12.8382	0.57786	0.0:0.0:1.0:0.0	.	39;39;39;39	Q8TE02-2;Q8TE02-3;A8K1M5;Q8TE02	.;.;.;DERP6_HUMAN	L	39	ENSP00000346412:R39L;ENSP00000379869:R39L;ENSP00000379868:R39L;ENSP00000349111:R39L	ENSP00000346412:R39L	R	+	2	0	C17orf81	7096834	1.000000	0.71417	0.999000	0.59377	0.780000	0.44128	4.488000	0.60300	2.481000	0.83766	0.632000	0.83419	CGC	ELP5	-	pfam_Elp5	ENSG00000170291		0.587	ELP5-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ELP5	HGNC	protein_coding	OTTHUMT00000440111.1	-	0.00	101	0	G	NM_015362		7156110	+1	tier1	-	no_errors	ENST00000354429	ensembl	human	known	74_37	missense	27.18	75	28	SNP	0.996	T
ENO4	387712	genome.wustl.edu	37	10	118620366	118620366	+	Silent	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr10:118620366C>A	ENST00000341276.5	+	6	754	c.699C>A	c.(697-699)ctC>ctA	p.L233L	ENO4_ENST00000409522.1_Intron|ENO4_ENST00000369207.2_5'UTR	NM_001242699.1	NP_001229628.1	A6NNW6	ENO4_HUMAN	enolase family member 4	233					glycolytic process (GO:0006096)	phosphopyruvate hydratase complex (GO:0000015)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)			lung(1)	1						AGCCTGTACTCAGTGGCAGTA	0.468																																																	0																																										SO:0001819	synonymous_variant	0				CCDS73206.1	10q25.3	2012-04-19	2009-12-15	2009-12-15	ENSG00000188316	ENSG00000188316			31670	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 134"""	C10orf134			Standard	NM_001242699		Approved	AC023283.3	uc021pzj.1	A6NNW6	OTTHUMG00000019113	ENST00000341276.5:c.699C>A	10.37:g.118620366C>A			B8ZZN9	Silent	SNP	pfam_Enolase_C,pfam_Enolase_N	p.L233	ENST00000341276.5	37	c.699		10																																																																																			ENO4	-	NULL	ENSG00000188316		0.468	ENO4-201	KNOWN	basic|appris_principal	protein_coding	ENO4	HGNC	protein_coding		-	0.00	79	0	C	NM_001242699		118620366	+1	tier1	-	no_errors	ENST00000341276	ensembl	human	known	74_37	silent	27.91	62	24	SNP	0.190	A
ENPP3	5169	genome.wustl.edu	37	6	132054857	132054857	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr6:132054857C>G	ENST00000414305.1	+	22	2411	c.2083C>G	c.(2083-2085)Cct>Gct	p.P695A	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Missense_Mutation_p.P695A			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	695	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		CTTCCTCTATCCTCCTGGTTA	0.463																																																	0													97.0	95.0	96.0					6																	132054857		2203	4300	6503	SO:0001583	missense	0			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2083C>G	6.37:g.132054857C>G	ENSP00000406261:p.Pro695Ala		Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.P695A	ENST00000414305.1	37	c.2083	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.978154	0.74360	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.79454	-1.27;-1.27	5.91	5.91	0.95273	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.000000	0.64402	D	0.000001	D	0.90086	0.6903	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90712	0.4628	10	0.72032	D	0.01	-17.4505	20.2956	0.98549	0.0:1.0:0.0:0.0	.	695	O14638	ENPP3_HUMAN	A	695	ENSP00000406261:P695A;ENSP00000350265:P695A	ENSP00000350265:P695A	P	+	1	0	ENPP3	132096550	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.492000	0.73654	2.805000	0.96524	0.460000	0.39030	CCT	ENPP3	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	ENSG00000154269		0.463	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	-	0.00	31	0	C			132054857	+1	tier1	-	no_errors	ENST00000357639	ensembl	human	known	74_37	missense	27.45	37	14	SNP	1.000	G
YEATS2	55689	genome.wustl.edu	37	3	183520323	183520324	+	Intron	INS	-	-	TA	rs11276625|rs74710373	byFrequency	TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr3:183520323_183520324insTA	ENST00000305135.5	+	26	3697				AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			atatacacgtgtatatacacac	0.332														2148	0.428914	0.2602	0.4568	5008	,	,		21295	0.5228		0.4642	False		,,,				2504	0.5041																0																																										SO:0001627	intron_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3503-720->TA	3.37:g.183520328_183520329dupTA			A7E2B9|D3DNS9|Q641P6|Q9NW96	RNA	INS	-	NULL	ENST00000305135.5	37	NULL	CCDS43175.1	3																																																																																			AC131160.1	-	-	ENSG00000216166		0.332	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216166	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000346507.2		0.00	15	0	-	NM_018023		183520324	-1	tier1		no_errors	ENST00000401347	ensembl	human	novel	74_37	rna	22.22	28	8	INS	0.000:0.000	TA
AL035045.1	0	genome.wustl.edu	37	20	17823269	17823269	+	RNA	DEL	T	T	-			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr20:17823269delT	ENST00000408293.1	+	0	43																											aaacaatgaattttttttagt	0.313																																																	0																																												0																															20.37:g.17823269delT				RNA	DEL	-	NULL	ENST00000408293.1	37	NULL		20																																																																																			AL035045.1	-	-	ENSG00000221220		0.313	AL035045.1-201	NOVEL	basic	miRNA	ENSG00000221220	Clone_based_ensembl_gene	miRNA			0.00	29	0	T			17823269	+1	tier1		no_errors	ENST00000408293	ensembl	human	novel	74_37	rna	27.59	21	8	DEL	0.000	-
MGAM2	93432	genome.wustl.edu	37	7	141857806	141857806	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr7:141857806C>T	ENST00000477922.3	+	18	2047	c.1993C>T	c.(1993-1995)Cgc>Tgc	p.R665C																	endometrium(1)|lung(5)	6						TCTGAACATCCGCTACACCTT	0.498																																																	0																																										SO:0001583	missense	0																														ENST00000477922.3:c.1993C>T	7.37:g.141857806C>T	ENSP00000420449:p.Arg665Cys			Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.R665C	ENST00000477922.3	37	c.1993		7	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441013	0.83993	.	.	ENSG00000257743	ENST00000477922	.	.	.	4.94	4.03	0.46877	.	.	.	.	.	T	0.69223	0.3087	.	.	.	.	.	.	.	.	.	.	.	.	T	0.79633	-0.1722	4	0.87932	D	0	.	13.9476	0.64094	0.1641:0.8359:0.0:0.0	.	.	.	.	C	665	.	ENSP00000420449:R665C	R	+	1	0	RP11-1220K2.2	141504275	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.606000	0.61126	1.347000	0.45714	0.563000	0.77884	CGC	RP11-1220K2.2	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF	ENSG00000257743		0.498	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	-	0.00	90	0	C			141857806	+1	tier1	-	no_errors	ENST00000477922	ensembl	human	putative	74_37	missense	31.37	70	32	SNP	1.000	T
AP1G2	8906	genome.wustl.edu	37	14	24035227	24035227	+	Intron	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr14:24035227C>A	ENST00000308724.5	-	4	1324				AP1G2_ENST00000556277.1_Intron|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Intron	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit						intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TTCAATTCTTCTGTCCATAGA	0.567																																																	0													29.0	30.0	30.0					14																	24035227		2203	4300	6503	SO:0001627	intron_variant	0			AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.568+45G>T	14.37:g.24035227C>A			D3DS51|O75504	RNA	SNP	-	NULL	ENST00000308724.5	37	NULL	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	C	6.606	0.480197	0.12581	.	.	ENSG00000213983	ENST00000535852	.	.	.	4.55	2.74	0.32292	.	.	.	.	.	T	0.20088	0.0483	.	.	.	0.09310	N	1	P	0.37864	0.61	B	0.30029	0.11	T	0.08472	-1.0720	6	.	.	.	.	6.9658	0.24623	0.0:0.7928:0.0:0.2072	.	3	Q86V28	.	I	3	.	.	R	-	2	0	AP1G2	23105067	0.000000	0.05858	0.003000	0.11579	0.045000	0.14185	-1.006000	0.03671	0.545000	0.28902	-0.254000	0.11334	AGA	RP11-66N24.3	-	-	ENSG00000258727		0.567	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258727	Clone_based_vega_gene	protein_coding	OTTHUMT00000071812.4	-	0.00	37	0	C	NM_003917		24035227	+1	tier1	-	no_errors	ENST00000555968	ensembl	human	known	74_37	rna	27.08	35	13	SNP	0.006	A
EPB41L4A	64097	genome.wustl.edu	37	5	111540178	111540178	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr5:111540178A>G	ENST00000261486.5	-	15	1546	c.1270T>C	c.(1270-1272)Tac>Cac	p.Y424H	EPB41L4A_ENST00000507810.1_5'UTR|CTC-459M5.2_ENST00000505825.1_RNA|CTC-459M5.2_ENST00000506875.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	424						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		GGAGAATTGTAGAGTCCACTG	0.507																																																	0													126.0	125.0	125.0					5																	111540178		1916	4135	6051	SO:0001583	missense	0			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1270T>C	5.37:g.111540178A>G	ENSP00000261486:p.Tyr424His		A4FUI6	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.Y424H	ENST00000261486.5	37	c.1270	CCDS43350.1	5	.	.	.	.	.	.	.	.	.	.	A	24.5	4.535636	0.85812	.	.	ENSG00000129595	ENST00000261486	D	0.82984	-1.67	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.90041	0.6890	M	0.71581	2.175	0.38182	D	0.939654	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.919	D	0.91505	0.5222	10	0.54805	T	0.06	.	14.0175	0.64533	1.0:0.0:0.0:0.0	.	424;51	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	H	424	ENSP00000261486:Y424H	ENSP00000261486:Y424H	Y	-	1	0	EPB41L4A	111568077	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.098000	0.71458	2.291000	0.77112	0.533000	0.62120	TAC	EPB41L4A	-	NULL	ENSG00000129595		0.507	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370969.1	-	0.00	52	0	A			111540178	-1	tier1	-	no_errors	ENST00000261486	ensembl	human	known	74_37	missense	44.93	38	31	SNP	1.000	G
FAM171B	165215	genome.wustl.edu	37	2	187559026	187559026	+	Silent	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:187559026C>A	ENST00000304698.5	+	1	329	c.126C>A	c.(124-126)atC>atA	p.I42I	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	42				I -> IQ (in Ref. 1; BAC03660). {ECO:0000305}.|I -> IQQ (in Ref. 3; AAH60872 and 4; AAL57220). {ECO:0000305}.		integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TCAGCCTCATCcaacagcagc	0.647																																																	0													17.0	19.0	19.0					2																	187559026		2201	4298	6499	SO:0001819	synonymous_variant	0			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.126C>A	2.37:g.187559026C>A			Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	Silent	SNP	pfam_Uncharacterised_FAM171	p.I42	ENST00000304698.5	37	c.126	CCDS33347.1	2																																																																																			FAM171B	-	NULL	ENSG00000144369		0.647	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	HGNC	protein_coding	OTTHUMT00000334679.1		0.00	18	0	C	NM_177454		187559026	+1			no_errors	ENST00000304698	ensembl	human	known	74_37	silent	8.93	50	5	SNP	1.000	A
FAM63A	55793	genome.wustl.edu	37	1	150978596	150978596	+	Intron	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:150978596C>T	ENST00000361936.5	-	2	604				PRUNE_ENST00000271620.3_5'Flank|PRUNE_ENST00000368936.1_5'Flank|PRUNE_ENST00000368937.1_5'Flank|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000470877.1_Intron|PRUNE_ENST00000368935.1_5'Flank|FAM63A_ENST00000361738.6_Silent_p.T12T|PRUNE_ENST00000271619.8_5'Flank|FAM63A_ENST00000312210.5_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A							extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGAAGGTTTCGTGCTTTCAT	0.453																																																	0													171.0	156.0	161.0					1																	150978596		692	1591	2283	SO:0001627	intron_variant	0			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.350+191G>A	1.37:g.150978596C>T			B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Silent	SNP	pfam_DUF544	p.T12	ENST00000361936.5	37	c.36	CCDS976.1	1																																																																																			FAM63A	-	NULL	ENSG00000143409		0.453	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM63A	HGNC	protein_coding	OTTHUMT00000411753.1	-	0.00	72	0	C	NM_018379		150978596	-1	tier1	-	no_errors	ENST00000361738	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.000	T
FBXO43	286151	genome.wustl.edu	37	8	101146049	101146049	+	Missense_Mutation	SNP	C	C	T	rs202056051		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr8:101146049C>T	ENST00000428847.2	-	5	2424	c.2108G>A	c.(2107-2109)cGg>cAg	p.R703Q		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	703					meiotic nuclear division (GO:0007126)|negative regulation of meiosis (GO:0045835)|negative regulation of protein catabolic process (GO:0042177)|protein ubiquitination (GO:0016567)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TTTTAAATTCCGCTTACTCTG	0.383																																																	0								C	GLN/ARG	0,3704		0,0,1852	109.0	101.0	103.0		2108	1.3	1.0	8		103	1,8173		0,1,4086	yes	missense	FBXO43	NM_001029860.3	43	0,1,5938	TT,TC,CC		0.0122,0.0,0.0084	possibly-damaging	703/709	101146049	1,11877	1852	4087	5939	SO:0001583	missense	0			BC028709	CCDS47904.1	8q22.3	2004-08-24			ENSG00000156509	ENSG00000156509		"""F-boxes /  ""other"""""	28521	protein-coding gene	gene with protein product		609110					Standard	NR_036491		Approved	Fbx43	uc003yjd.3	Q4G163	OTTHUMG00000164803	ENST00000428847.2:c.2108G>A	8.37:g.101146049C>T	ENSP00000403293:p.Arg703Gln			Missense_Mutation	SNP	pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC	p.R703Q	ENST00000428847.2	37	c.2108	CCDS47904.1	8	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930967	0.52866	0.0	1.22E-4	ENSG00000156509	ENST00000428847	T	0.53857	0.6	5.15	1.32	0.21799	.	0.218442	0.37577	N	0.002023	T	0.36663	0.0975	L	0.45581	1.43	0.42072	D	0.991215	P	0.36438	0.553	B	0.20955	0.032	T	0.23226	-1.0194	10	0.59425	D	0.04	-1.0226	9.231	0.37437	0.0:0.7067:0.0:0.2933	.	703	Q4G163	FBX43_HUMAN	Q	703	ENSP00000403293:R703Q	ENSP00000403293:R703Q	R	-	2	0	FBXO43	101215225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.858000	0.48356	0.287000	0.22375	0.655000	0.94253	CGG	FBXO43	-	NULL	ENSG00000156509		0.383	FBXO43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO43	HGNC	protein_coding	OTTHUMT00000380380.1	-	0.00	38	0	C	XM_209918		101146049	-1	tier1	rs202056051	no_errors	ENST00000428847	ensembl	human	known	74_37	missense	32.00	17	8	SNP	1.000	T
FILIP1L	11259	genome.wustl.edu	37	3	99567929	99567929	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr3:99567929G>T	ENST00000354552.3	-	5	3061	c.2591C>A	c.(2590-2592)cCc>cAc	p.P864H	CMSS1_ENST00000496116.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_Missense_Mutation_p.P440H|FILIP1L_ENST00000471562.1_Missense_Mutation_p.P624H|FILIP1L_ENST00000383694.2_Missense_Mutation_p.P624H|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000331335.5_Missense_Mutation_p.P864H	NM_182909.2	NP_878913.2	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	864						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTTCATCCAGGGAATCCATAG	0.458																																																	0													147.0	136.0	140.0					3																	99567929		1922	4140	6062	SO:0001583	missense	0				CCDS43117.1, CCDS43118.1, CCDS43119.1, CCDS63700.1, CCDS74969.1	3q12.1	2011-10-21			ENSG00000168386	ENSG00000168386			24589	protein-coding gene	gene with protein product	"""downregulated in ovarian cancer 1"", ""GPBP-interacting protein of 130 kDa"""	612993				8314147, 15935955, 21832087	Standard	NM_001282793		Approved	DOC-1, GIP130	uc003dtm.3	Q4L180	OTTHUMG00000159055	ENST00000354552.3:c.2591C>A	3.37:g.99567929G>T	ENSP00000346560:p.Pro864His		B2CNV7|B2CNV8|Q13597|Q2YDY5|Q6KFX5|Q6KFX6|Q6KFX7|Q8IUM3|Q8N6Z0	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin	p.P864H	ENST00000354552.3	37	c.2591	CCDS43117.1	3	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960568	0.53400	.	.	ENSG00000168386	ENST00000354552;ENST00000487087;ENST00000471562;ENST00000331335;ENST00000383694;ENST00000441620;ENST00000495625	T;T;T;T;T;T	0.60424	0.49;0.22;0.19;0.5;0.2;0.32	5.99	5.11	0.69529	.	0.000000	0.52532	D	0.000079	T	0.73418	0.3584	L	0.59436	1.845	0.54753	D	0.999981	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76753	-0.2843	10	0.87932	D	0	-11.3541	16.5836	0.84722	0.0:0.0:0.8686:0.1314	.	864;864	Q4L180-2;Q4L180	.;FIL1L_HUMAN	H	864;440;624;864;624;610;624	ENSP00000346560:P864H;ENSP00000417774:P440H;ENSP00000419642:P624H;ENSP00000327880:P864H;ENSP00000373192:P624H;ENSP00000419874:P624H	ENSP00000327880:P864H	P	-	2	0	FILIP1L	101050619	1.000000	0.71417	0.918000	0.36340	0.927000	0.56198	9.864000	0.99589	1.515000	0.48885	0.655000	0.94253	CCC	FILIP1L	-	NULL	ENSG00000168386		0.458	FILIP1L-001	KNOWN	basic|CCDS	protein_coding	FILIP1L	HGNC	protein_coding	OTTHUMT00000353069.1	-	0.00	81	0	G	NM_014890		99567929	-1	tier1	-	no_errors	ENST00000354552	ensembl	human	known	74_37	missense	43.06	40	31	SNP	1.000	T
CLEC12A	160364	genome.wustl.edu	37	12	10103882	10103882	+	5'Flank	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:10103882G>T	ENST00000355690.4	+	0	0				AC091814.3_ENST00000420905.1_lincRNA	NM_001207010.1	NP_001193939.1	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						tagcattgctgctgccagccc	0.473																																					Melanoma(197;1487 2125 16611 22221 34855)												0																																										SO:0001631	upstream_gene_variant	0			AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9			12.37:g.10103882G>T	Exception_encountered		B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	RNA	SNP	-	NULL	ENST00000355690.4	37	NULL	CCDS55803.1	12																																																																																			AC091814.3	-	-	ENSG00000231560		0.473	CLEC12A-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLJ46363	Clone_based_vega_gene	protein_coding	OTTHUMT00000399552.3	-	0.00	33	0	G	NM_138337		10103882	-1	tier1	-	no_errors	ENST00000420905	ensembl	human	known	74_37	rna	50.00	16	16	SNP	0.004	T
FOXD4	2298	genome.wustl.edu	37	9	117909	117909	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:117909C>T	ENST00000382500.2	-	1	508	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	71					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CCGCCGCCCTCGATGTGCTCT	0.716																																																	0													37.0	61.0	53.0					9																	117909		2192	4287	6479	SO:0001583	missense	0			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.211G>A	9.37:g.117909C>T	ENSP00000371940:p.Glu71Lys		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E71K	ENST00000382500.2	37	c.211	CCDS34975.1	9	.	.	.	.	.	.	.	.	.	.	.	13.31	2.199910	0.38905	.	.	ENSG00000170122	ENST00000382500	D	0.95171	-3.63	2.14	0.0349	0.14185	.	0.209202	0.22410	U	0.060427	T	0.81489	0.4833	L	0.27053	0.805	0.09310	N	1	P	0.48998	0.918	B	0.29862	0.108	T	0.77965	-0.2389	10	0.10377	T	0.69	.	4.0977	0.09998	0.2315:0.6137:0.0:0.1548	.	71	Q12950	FOXD4_HUMAN	K	71	ENSP00000371940:E71K	ENSP00000371940:E71K	E	-	1	0	FOXD4	107909	0.000000	0.05858	0.002000	0.10522	0.120000	0.20174	-0.806000	0.04525	0.201000	0.20466	0.291000	0.19559	GAG	FOXD4	-	NULL	ENSG00000170122		0.716	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4	HGNC	protein_coding	OTTHUMT00000055433.1	-	0.00	238	0	C	NM_207305		117909	-1	tier1	-	no_errors	ENST00000382500	ensembl	human	known	74_37	missense	9.28	176	18	SNP	0.010	T
FRA10AC1	118924	genome.wustl.edu	37	10	95433292	95433292	+	Intron	SNP	T	T	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr10:95433292T>A	ENST00000359204.4	-	13	1024				FRA10AC1_ENST00000536233.1_Intron|FRA10AC1_ENST00000371430.2_Intron|FRA10AC1_ENST00000460752.1_5'UTR	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1							nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						ttggtttttgtggatattata	0.313																																																	0																																										SO:0001627	intron_variant	0			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.827-2687A>T	10.37:g.95433292T>A			C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	RNA	SNP	-	NULL	ENST00000359204.4	37	NULL	CCDS7430.1	10																																																																																			FRA10AC1	-	-	ENSG00000148690		0.313	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	-	0.00	22	0	T	NM_145246		95433292	-1	tier1	-	no_errors	ENST00000460752	ensembl	human	known	74_37	rna	37.04	17	10	SNP	0.001	A
FRMD3	257019	genome.wustl.edu	37	9	85950526	85950526	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:85950526C>A	ENST00000304195.3	-	6	707	c.501G>T	c.(499-501)gaG>gaT	p.E167D	FRMD3_ENST00000376438.1_Missense_Mutation_p.E167D	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	167	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TCTCAGGATGCTCATCAGGAT	0.368																																																	0													103.0	90.0	94.0					9																	85950526		1856	4098	5954	SO:0001583	missense	0			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.501G>T	9.37:g.85950526C>A	ENSP00000303508:p.Glu167Asp		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like	p.E167D	ENST00000304195.3	37	c.501	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	C	12.72	2.023069	0.35701	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	T;T	0.78364	-1.17;-1.17	5.16	0.13	0.14746	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.63510	0.2517	L	0.39147	1.195	0.58432	D	0.999998	B;B	0.13145	0.005;0.007	B;B	0.15484	0.013;0.008	T	0.50285	-0.8846	10	0.39692	T	0.17	.	6.242	0.20795	0.0:0.423:0.1273:0.4497	.	167;167	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	D	167;167;63	ENSP00000365621:E167D;ENSP00000303508:E167D	ENSP00000303508:E167D	E	-	3	2	FRMD3	85140346	0.958000	0.32768	0.998000	0.56505	0.986000	0.74619	0.228000	0.17814	0.041000	0.15688	-0.229000	0.12294	GAG	FRMD3	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000172159		0.368	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1		0.00	21	0	C	NM_174938		85950526	-1			no_errors	ENST00000304195	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.999	A
FRRS1	391059	genome.wustl.edu	37	1	100207810	100207810	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:100207810C>T	ENST00000414213.1	-	5	954	c.353G>A	c.(352-354)aGa>aAa	p.R118K	FRRS1_ENST00000287474.5_Missense_Mutation_p.R118K			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	118	Reelin. {ECO:0000255|PROSITE- ProRule:PRU00363}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AGATGCACTTCTGTGACTCAC	0.388																																																	0													141.0	141.0	141.0					1																	100207810		2203	4300	6503	SO:0001583	missense	0			AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.353G>A	1.37:g.100207810C>T	ENSP00000393884:p.Arg118Lys		A6NLN7	Missense_Mutation	SNP	pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM	p.R118K	ENST00000414213.1	37	c.353		1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.734698	0.30774	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.83	1.67	0.24075	.	0.449293	0.24294	N	0.039798	T	0.12646	0.0307	N	0.11427	0.14	0.24087	N	0.995921	B	0.06786	0.001	B	0.15052	0.012	T	0.29427	-1.0012	9	0.19590	T	0.45	-3.2637	18.5889	0.91202	0.0:0.5005:0.4994:0.0	.	118	Q6ZNA5-2	.	K	118	.	ENSP00000287474:R118K	R	-	2	0	FRRS1	99980398	1.000000	0.71417	0.035000	0.18076	0.298000	0.27526	3.558000	0.53749	0.054000	0.16065	-0.147000	0.13772	AGA	FRRS1	-	pfam_Reeler_dom,pfscan_Reeler_dom	ENSG00000156869		0.388	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	FRRS1	HGNC	protein_coding		-	0.00	37	0	C	NM_001013660		100207810	-1	tier1	-	no_errors	ENST00000287474	ensembl	human	known	74_37	missense	43.24	21	16	SNP	0.990	T
Unknown	0	genome.wustl.edu	37	X	73289338	73289338	+	IGR	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chrX:73289338G>T								RP13-36G14.4 (58035 upstream) : RP3-368A4.5 (130725 downstream)																							GCCAAGTCCTGGTCTGGGTAG	0.507																																																	0																																										SO:0001628	intergenic_variant	0																															X.37:g.73289338G>T				RNA	SNP	-	NULL		37	NULL		X																																																																																			FTX	-	-	ENSG00000230590	0	0.507					FTX	HGNC			-	0.00	15	0	G			73289338	-1	tier1	-	no_errors	ENST00000602420	ensembl	human	known	74_37	rna	75.00	2	6	SNP	0.902	T
Unknown	0	genome.wustl.edu	37	3	6828372	6828372	+	IGR	SNP	A	A	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr3:6828372A>T								AC069277.2 (50556 upstream) : GRM7 (74429 downstream)																							CCAGTCTATAAGGTACACATT	0.398																																																	0																																										SO:0001628	intergenic_variant	0																															3.37:g.6828372A>T				Missense_Mutation	SNP	NULL	p.R54W		37	c.160		3																																																																																			GRM7	-	NULL	ENSG00000196277	0	0.398					GRM7	HGNC			-	0.00	35	0	A			6828372	+1	tier1	-	no_errors	ENST00000443259	ensembl	human	known	74_37	missense	44.83	16	13	SNP	0.057	T
H3F3C	440093	genome.wustl.edu	37	12	31945089	31945089	+	Silent	SNP	G	G	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:31945089G>C	ENST00000340398.3	-	1	86	c.12C>G	c.(10-12)acC>acG	p.T4T		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	4					positive regulation of cell growth (GO:0030307)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CAGTCTGCTTGGTTCGGGCCA	0.617										HNSCC(67;0.2)																																							0													46.0	45.0	46.0					12																	31945089		2202	4298	6500	SO:0001819	synonymous_variant	0			BC066906	CCDS31769.1	12p11.21	2012-02-15			ENSG00000188375	ENSG00000188375		"""Histones / Replication-independent"""	33164	protein-coding gene	gene with protein product						21274551	Standard	NM_001013699		Approved	H3.5	uc001rkr.3	Q6NXT2	OTTHUMG00000157811	ENST00000340398.3:c.12C>G	12.37:g.31945089G>C			E9P281	Silent	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.T4	ENST00000340398.3	37	c.12	CCDS31769.1	12																																																																																			H3F3C	-	superfamily_Histone-fold,prints_Histone_H3	ENSG00000188375		0.617	H3F3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3C	HGNC	protein_coding	OTTHUMT00000349653.1	-	0.00	78	0	G	NM_001013699		31945089	-1	tier1	-	no_errors	ENST00000340398	ensembl	human	known	74_37	silent	23.96	73	23	SNP	1.000	C
HIST1H2BH	8345	genome.wustl.edu	37	6	26252252	26252252	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr6:26252252C>G	ENST00000356350.2	+	1	374	c.374C>G	c.(373-375)tCc>tGc	p.S125C	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	125					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						TACACCAGCTCCAAATAAATG	0.522																																																	0													54.0	57.0	56.0					6																	26252252		2203	4300	6503	SO:0001583	missense	0			Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.374C>G	6.37:g.26252252C>G	ENSP00000348706:p.Ser125Cys		B2R541|Q4VB74	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.S125C	ENST00000356350.2	37	c.374	CCDS4601.1	6	.	.	.	.	.	.	.	.	.	.	.	17.34	3.364988	0.61513	.	.	ENSG00000197459	ENST00000356350	T	0.26810	1.71	4.65	4.65	0.58169	Histone-fold (2);	0.000000	0.40554	U	0.001065	T	0.53690	0.1812	M	0.92604	3.325	0.39241	D	0.963862	D	0.71674	0.998	D	0.67231	0.95	T	0.67703	-0.5602	10	0.87932	D	0	.	17.3874	0.87420	0.0:1.0:0.0:0.0	.	125	Q93079	H2B1H_HUMAN	C	125	ENSP00000348706:S125C	ENSP00000348706:S125C	S	+	2	0	HIST1H2BH	26360231	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	7.573000	0.82421	2.513000	0.84729	0.591000	0.81541	TCC	HIST1H2BH	-	superfamily_Histone-fold	ENSG00000197459		0.522	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BH	HGNC	protein_coding	OTTHUMT00000040110.1	-	0.00	78	0	C	NM_003524		26252252	+1	tier1	-	no_errors	ENST00000356350	ensembl	human	known	74_37	missense	51.22	20	21	SNP	1.000	G
HTR3E	285242	genome.wustl.edu	37	3	183818349	183818349	+	Silent	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr3:183818349G>A	ENST00000415389.2	+	2	610	c.144G>A	c.(142-144)gtG>gtA	p.V48V	HTR3E_ENST00000335304.2_Silent_p.V63V|HTR3E-AS1_ENST00000431427.1_RNA|HTR3E_ENST00000440596.2_Silent_p.V63V|HTR3E_ENST00000436361.2_Silent_p.V63V|HTR3E_ENST00000425359.2_Silent_p.V48V	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	48					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	TGAATTCAGTGTTTAATAGAA	0.532																																					Melanoma(7;227 727 6634 44770)												0													180.0	176.0	177.0					3																	183818349		2203	4300	6503	SO:0001819	synonymous_variant	0			AY159813	CCDS3251.1, CCDS58868.1, CCDS58869.1, CCDS58870.1, CCDS58871.1	3q27	2012-05-22	2012-02-03		ENSG00000186038	ENSG00000186038		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24005	protein-coding gene	gene with protein product		610123	"""5-hydroxytryptamine (serotonin) receptor 3, family member E"""			12801637, 15157181	Standard	NM_001256613		Approved		uc010hxr.3	A5X5Y0	OTTHUMG00000156857	ENST00000415389.2:c.144G>A	3.37:g.183818349G>A			A8IKD7|E9PGF1|Q495G1|Q495G3|Q6V706|Q6V707|Q7Z6B2	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.V63	ENST00000415389.2	37	c.189	CCDS58868.1	3																																																																																			HTR3E	-	superfamily_Neur_chan_lig-bd	ENSG00000186038		0.532	HTR3E-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HTR3E	HGNC	protein_coding	OTTHUMT00000346284.1	-	0.00	78	0	G	NM_182589		183818349	+1	tier1	-	no_errors	ENST00000335304	ensembl	human	known	74_37	silent	16.97	137	28	SNP	0.143	A
IDH1	3417	genome.wustl.edu	37	2	209106806	209106806	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:209106806C>T	ENST00000415913.1	-	7	1143	c.762G>A	c.(760-762)atG>atA	p.M254I	IDH1_ENST00000446179.1_Missense_Mutation_p.M254I|IDH1_ENST00000345146.2_Missense_Mutation_p.M254I	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	254					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CTTGGGCCACCATGTCGTCGA	0.468			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)			Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	0													149.0	141.0	144.0					2																	209106806		2203	4300	6503	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.762G>A	2.37:g.209106806C>T	ENSP00000390265:p.Met254Ile		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	p.M254I	ENST00000415913.1	37	c.762	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.773760	0.96922	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.69561	-0.41;-0.41;-0.41	6.17	6.17	0.99709	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.88636	0.6490	H	0.96430	3.82	0.80722	D	1	D	0.61697	0.99	D	0.72625	0.978	D	0.90729	0.4641	10	0.87932	D	0	-18.4069	20.8794	0.99867	0.0:1.0:0.0:0.0	.	254	O75874	IDHC_HUMAN	I	254	ENSP00000260985:M254I;ENSP00000410513:M254I;ENSP00000390265:M254I	ENSP00000260985:M254I	M	-	3	0	IDH1	208815051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.941000	0.99782	0.655000	0.94253	ATG	IDH1	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP	ENSG00000138413		0.468	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	HGNC	protein_coding	OTTHUMT00000336672.1	-	0.00	35	0	C			209106806	-1	tier1	-	no_errors	ENST00000345146	ensembl	human	known	74_37	missense	12.50	35	5	SNP	1.000	T
INSC	387755	genome.wustl.edu	37	11	15260470	15260470	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr11:15260470C>A	ENST00000379554.3	+	11	1430	c.1384C>A	c.(1384-1386)Cag>Aag	p.Q462K	INSC_ENST00000525218.1_Missense_Mutation_p.Q373K|INSC_ENST00000530161.1_Missense_Mutation_p.Q415K|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000528567.1_Missense_Mutation_p.Q415K|INSC_ENST00000424273.1_Missense_Mutation_p.Q373K|INSC_ENST00000379556.3_Missense_Mutation_p.Q415K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	462					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CCTAGGGGTCCAGCTTATCAT	0.587																																																	0													79.0	76.0	77.0					11																	15260470		2046	4195	6241	SO:0001583	missense	0			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1384C>A	11.37:g.15260470C>A	ENSP00000368872:p.Gln462Lys		A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.Q462K	ENST00000379554.3	37	c.1384	CCDS41621.1	11	.	.	.	.	.	.	.	.	.	.	C	3.922	-0.017910	0.07681	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.27	4.35	0.52113	Armadillo-like helical (1);Armadillo-type fold (1);	0.308331	0.31323	N	0.007854	T	0.34542	0.0901	L	0.36672	1.1	0.32291	N	0.566267	P;B;P;P	0.40083	0.702;0.048;0.458;0.458	B;B;B;B	0.37650	0.255;0.023;0.137;0.137	T	0.37731	-0.9693	10	0.06099	T	0.92	-8.4788	14.8648	0.70406	0.0:0.5938:0.4062:0.0	.	450;373;415;462	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	K	462;415;373;415;415;373	ENSP00000368872:Q462K;ENSP00000368874:Q415K;ENSP00000389161:Q373K;ENSP00000435022:Q415K;ENSP00000436194:Q415K;ENSP00000436113:Q373K	ENSP00000368872:Q462K	Q	+	1	0	INSC	15217046	0.998000	0.40836	1.000000	0.80357	0.179000	0.23085	2.519000	0.45546	1.220000	0.43490	-0.165000	0.13383	CAG	INSC	-	superfamily_ARM-type_fold,smart_Armadillo	ENSG00000188487		0.587	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	HGNC	protein_coding	OTTHUMT00000386590.1	-	0.00	56	0	C	NM_001031853		15260470	+1	tier1	-	no_errors	ENST00000379554	ensembl	human	known	74_37	missense	6.93	94	7	SNP	1.000	A
ITPK1	3705	genome.wustl.edu	37	14	93534154	93534155	+	Intron	DNP	TG	TG	AT			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T|G	T|G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr14:93534154_93534155TG>AT	ENST00000267615.6	-	3	294				ITPK1_ENST00000556603.2_Intron|ITPK1_ENST00000354313.3_Intron|ITPK1-AS1_ENST00000553639.1_RNA|ITPK1_ENST00000555495.1_Intron			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CACATAACTTTGTCTTATTTGT	0.327																																																	0																																										SO:0001627	intron_variant	0			U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.121_121delinsAT	14.37:g.93534154_93534155delinsAT			Q9BTL6|Q9H2E7	RNA	SNP	-	NULL	ENST00000267615.6	37	NULL	CCDS9907.1	14																																																																																			ITPK1-AS1	-	-	ENSG00000258730		0.327	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPK1-AS1	HGNC	protein_coding	OTTHUMT00000412421.2		0.00	30|31	0	T|G	NM_014216		93534154|93534155	+1			no_errors	ENST00000553639	ensembl	human	known	74_37	rna	11.43|11.11	31|32	4	SNP	0.000	A|T
KCNJ12	3768	genome.wustl.edu	37	17	21319869	21319869	+	Silent	SNP	C	C	T	rs564486905		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:21319869C>T	ENST00000583088.1	+	3	2110	c.1215C>T	c.(1213-1215)agC>agT	p.S405S	KCNJ12_ENST00000331718.5_Silent_p.S405S	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	405				S -> I (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ACGGCCTCAGCCCCCAGGCCA	0.662										Prostate(3;0.18)			.|||	1	0.000199681	0.0	0.0	5008	,	,		30967	0.0		0.001	False		,,,				2504	0.0																0													35.0	36.0	36.0					17																	21319869		2203	4300	6503	SO:0001819	synonymous_variant	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.1215C>T	17.37:g.21319869C>T			O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.S405	ENST00000583088.1	37	c.1215	CCDS11219.1	17																																																																																			KCNJ12	-	pirsf_K_chnl_inward-rec_Kir	ENSG00000184185		0.662	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	-	0.00	39	0	C	NM_021012		21319869	+1	tier1	-	no_errors	ENST00000331718	ensembl	human	known	74_37	silent	7.46	62	5	SNP	1.000	T
KCNN2	3781	genome.wustl.edu	37	5	113698694	113698694	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr5:113698694C>G	ENST00000512097.3	+	2	1240	c.222C>G	c.(220-222)aaC>aaG	p.N74K	KCNN2_ENST00000264773.3_Missense_Mutation_p.N74K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	74					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.N75_N78delNSNN(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CCGAGCACAACAACTCCAACA	0.711																																																	1	Deletion - In frame(1)	kidney(1)											26.0	24.0	25.0					5																	113698694		2191	4287	6478	SO:0001583	missense	0			AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.222C>G	5.37:g.113698694C>G	ENSP00000427120:p.Asn74Lys		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.N74K	ENST00000512097.3	37	c.222	CCDS4114.1	5	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562893	0.45694	.	.	ENSG00000080709	ENST00000512097;ENST00000264773	D;D	0.98345	-4.88;-4.88	5.58	4.71	0.59529	.	0.000000	0.64402	D	0.000004	D	0.95258	0.8462	L	0.47716	1.5	0.80722	D	1	P	0.41313	0.745	B	0.33454	0.164	D	0.94386	0.7609	10	0.17369	T	0.5	.	14.4201	0.67177	0.0:0.9275:0.0:0.0725	.	74	Q9H2S1	KCNN2_HUMAN	K	74	ENSP00000427120:N74K;ENSP00000264773:N74K	ENSP00000264773:N74K	N	+	3	2	KCNN2	113726593	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.231000	0.32624	2.624000	0.88883	0.655000	0.94253	AAC	KCNN2	-	NULL	ENSG00000080709		0.711	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	KCNN2	HGNC	protein_coding	OTTHUMT00000250775.2	-	0.00	41	0	C	NM_021614		113698694	+1	tier1	-	no_errors	ENST00000264773	ensembl	human	known	74_37	missense	36.00	32	18	SNP	1.000	G
KIAA0319	9856	genome.wustl.edu	37	6	24566850	24566850	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr6:24566850C>T	ENST00000378214.3	-	14	2791	c.2267G>A	c.(2266-2268)cGg>cAg	p.R756Q	KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756Q|KIAA0319_ENST00000535378.1_Missense_Mutation_p.R747Q|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711Q|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756Q	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	756	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463																																																	0													99.0	96.0	97.0					6																	24566850		2203	4300	6503	SO:0001583	missense	0			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2267G>A	6.37:g.24566850C>T	ENSP00000367459:p.Arg756Gln		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom	p.R756Q	ENST00000378214.3	37	c.2267	CCDS34348.1	6	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875459	0.91664	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.13538	2.58;2.58;2.58;2.58;2.58	4.01	4.01	0.46588	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (2);	0.000000	0.64402	D	0.000005	T	0.19208	0.0461	L	0.37697	1.125	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.02837	-1.1104	10	0.54805	T	0.06	-18.6805	16.3188	0.82938	0.0:1.0:0.0:0.0	.	756;747;756	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	Q	756;747;711;756;756	ENSP00000439700:R756Q;ENSP00000442403:R747Q;ENSP00000401086:R711Q;ENSP00000367459:R756Q;ENSP00000437656:R756Q	ENSP00000367459:R756Q	R	-	2	0	KIAA0319	24674829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.679000	0.61649	2.055000	0.61198	0.591000	0.81541	CGG	KIAA0319	-	pfam_PKD/REJ-like,superfamily_PKD_dom,smart_Fibronectin_type3,smart_PKD/Chitinase_dom	ENSG00000137261		0.463	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319	HGNC	protein_coding	OTTHUMT00000040009.1	-	0.00	15	0	C	NM_014809		24566850	-1	tier1	-	no_errors	ENST00000378214	ensembl	human	known	74_37	missense	47.62	11	10	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49420377	49420378	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:49420377_49420378insA	ENST00000301067.7	-	48	15370_15371	c.15371_15372insT	c.(15370-15372)atgfs	p.M5124fs		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5124					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCTTGAAGAACATGCACTTGGC	0.54																																																	0																																										SO:0001589	frameshift_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.15372dupT	12.37:g.49420378_49420378dupA	ENSP00000301067:p.Met5124fs		O14687	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.M5124fs	ENST00000301067.7	37	c.15372_15371	CCDS44873.1	12																																																																																			KMT2D	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING	ENSG00000167548		0.540	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0.00	27	0	-			49420378	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_ins	11.54	23	3	INS	1.000:1.000	A
KMT2D	8085	genome.wustl.edu	37	12	49426916	49426916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:49426916G>A	ENST00000301067.7	-	39	11571	c.11572C>T	c.(11572-11574)Cag>Tag	p.Q3858*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3858	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										tgctgctgctgctgctgGGCT	0.612																																																	0													15.0	19.0	17.0					12																	49426916		1875	3684	5559	SO:0001587	stop_gained	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11572C>T	12.37:g.49426916G>A	ENSP00000301067:p.Gln3858*		O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q3858*	ENST00000301067.7	37	c.11572	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	52	19.478951	0.99920	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.17	5.17	0.71159	.	0.000000	0.31450	N	0.007634	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8202	0.88648	0.0:0.0:1.0:0.0	.	.	.	.	X	3858	.	ENSP00000301067:Q3858X	Q	-	1	0	MLL2	47713183	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.723000	0.74742	2.583000	0.87209	0.563000	0.77884	CAG	KMT2D	-	NULL	ENSG00000167548		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2	-	0.00	47	0	G			49426916	-1	tier1	-	no_errors	ENST00000301067	ensembl	human	known	74_37	nonsense	49.04	53	51	SNP	1.000	A
KRT15	3866	genome.wustl.edu	37	17	39671781	39671781	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:39671781G>T	ENST00000254043.3	-	6	4775	c.1190C>A	c.(1189-1191)aCa>aAa	p.T397K	KRT15_ENST00000393981.3_Missense_Mutation_p.T232K|KRT15_ENST00000393976.2_Missense_Mutation_p.T397K|KRT15_ENST00000393974.3_Missense_Mutation_p.T232K	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	397	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CTCCAGCCGTGTCTTTATGTC	0.602																																																	0													145.0	123.0	130.0					17																	39671781		2203	4300	6503	SO:0001583	missense	0				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.1190C>A	17.37:g.39671781G>T	ENSP00000254043:p.Thr397Lys		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.T397K	ENST00000254043.3	37	c.1190	CCDS11398.1	17	.	.	.	.	.	.	.	.	.	.	G	19.69	3.874302	0.72180	.	.	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981	D;D;D;D	0.89485	-2.52;-2.52;-2.52;-2.52	4.71	3.74	0.42951	Filament (1);	0.130216	0.34700	N	0.003756	D	0.95089	0.8409	H	0.94264	3.515	0.34472	D	0.702965	D;D;D	0.60575	0.961;0.988;0.979	P;D;P	0.67548	0.794;0.952;0.876	D	0.97360	0.9969	10	0.87932	D	0	.	10.1805	0.42965	0.0772:0.2034:0.7193:0.0	.	232;397;397	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	K	397;232;397;232	ENSP00000254043:T397K;ENSP00000377544:T232K;ENSP00000377546:T397K;ENSP00000377550:T232K	ENSP00000254043:T397K	T	-	2	0	KRT15	36925307	0.013000	0.17824	0.945000	0.38365	0.907000	0.53573	0.668000	0.25127	1.194000	0.43101	0.655000	0.94253	ACA	KRT15	-	pfam_IF	ENSG00000171346		0.602	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT15	HGNC	protein_coding	OTTHUMT00000257301.1	-	0.00	52	0	G	NM_002275		39671781	-1	tier1	-	no_errors	ENST00000254043	ensembl	human	known	74_37	missense	5.97	63	4	SNP	0.947	T
KRTAP11-1	337880	genome.wustl.edu	37	21	32253537	32253537	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr21:32253537G>T	ENST00000332378.4	-	1	337	c.307C>A	c.(307-309)Ccg>Acg	p.P103T		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	103						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						AAGGTGAGCGGCCGGCTGTAG	0.567																																																	0													75.0	75.0	75.0					21																	32253537		2203	4300	6503	SO:0001583	missense	0			AJ457065	CCDS13608.1	21q22.1	2003-03-11			ENSG00000182591	ENSG00000182591		"""Keratin associated proteins"""	18922	protein-coding gene	gene with protein product		600064				12359730	Standard	NM_175858		Approved	KAP11.1	uc002yov.3	Q8IUC1	OTTHUMG00000057773	ENST00000332378.4:c.307C>A	21.37:g.32253537G>T	ENSP00000330720:p.Pro103Thr		A1L4I8	Missense_Mutation	SNP	pfam_KRTAP_PMG	p.P103T	ENST00000332378.4	37	c.307	CCDS13608.1	21	.	.	.	.	.	.	.	.	.	.	G	14.92	2.680565	0.47886	.	.	ENSG00000182591	ENST00000332378	T	0.03386	3.95	5.25	5.25	0.73442	.	0.159743	0.39544	N	0.001327	T	0.17152	0.0412	M	0.81497	2.545	0.38158	D	0.938962	D	0.63046	0.992	P	0.62649	0.905	T	0.00371	-1.1782	10	0.59425	D	0.04	-5.6164	14.7737	0.69699	0.0:0.0:1.0:0.0	.	103	Q8IUC1	KR111_HUMAN	T	103	ENSP00000330720:P103T	ENSP00000330720:P103T	P	-	1	0	KRTAP11-1	31175408	0.999000	0.42202	0.604000	0.28916	0.406000	0.30931	4.338000	0.59316	2.652000	0.90054	0.650000	0.86243	CCG	KRTAP11-1	-	pfam_KRTAP_PMG	ENSG00000182591		0.567	KRTAP11-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP11-1	HGNC	protein_coding	OTTHUMT00000128225.1	-	0.00	22	0	G			32253537	-1	tier1	-	no_errors	ENST00000332378	ensembl	human	known	74_37	missense	42.11	22	16	SNP	0.938	T
LOC284898	284898	genome.wustl.edu	37	22	27445847	27445847	+	lincRNA	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr22:27445847C>T	ENST00000453934.1	-	0	641																											gatgttcgcacgatgatgaaa	0.348																																																	0																																												0																															22.37:g.27445847C>T				RNA	SNP	-	NULL	ENST00000453934.1	37	NULL		22																																																																																			CTA-992D9.6	-	-	ENSG00000236858		0.348	CTA-992D9.6-001	KNOWN	basic	lincRNA	LOC284898	Clone_based_vega_gene	lincRNA	OTTHUMT00000320633.1	-	0.00	22	0	C			27445847	-1	tier1	-	no_errors	ENST00000453934	ensembl	human	known	74_37	rna	32.00	17	8	SNP	0.003	T
LINC00205	257103	genome.wustl.edu	37	21	46711242	46711242	+	lincRNA	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr21:46711242G>A	ENST00000433465.1	+	0	0				BX322557.10_ENST00000454115.2_RNA			P59089	CU086_HUMAN	long intergenic non-protein coding RNA 205																		tttggaccagggctgctttgt	0.498																																																	0																																												0			AF426264		21q22.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000223768	ENSG00000223768		"""Long non-coding RNAs"""	16420	non-coding RNA	RNA, long non-coding			"""chromosome 21 open reading frame 86"", ""non-protein coding RNA 205"""	C21orf86, NCRNA00205		12036297	Standard			Approved			P59089	OTTHUMG00000090403		21.37:g.46711242G>A				RNA	SNP	-	NULL	ENST00000433465.1	37	NULL		21																																																																																			BX322557.10	-	-	ENSG00000215447		0.498	LINC00205-001	KNOWN	basic|exp_conf	lincRNA	LOC642852	Clone_based_vega_gene	lincRNA	OTTHUMT00000206823.2	-	0.00	16	0	G			46711242	+1	tier1	-	no_errors	ENST00000400362	ensembl	human	known	74_37	rna	47.37	10	9	SNP	0.001	A
MAMDC2	256691	genome.wustl.edu	37	9	72783711	72783711	+	Splice_Site	SNP	G	G	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:72783711G>C	ENST00000377182.4	+	10	2115	c.1498G>C	c.(1498-1500)Gag>Cag	p.E500Q	MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000377178.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	500					peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTCATCTTCAGGTAAGACGGC	0.428																																																	0													138.0	132.0	134.0					9																	72783711		2203	4300	6503	SO:0001630	splice_region_variant	0			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1498+1G>C	9.37:g.72783711G>C			Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom	p.E500Q	ENST00000377182.4	37	c.1498	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	G	15.40	2.821205	0.50633	.	.	ENSG00000165072	ENST00000377182	T	0.02737	4.18	5.8	5.8	0.92144	.	0.455087	0.26746	N	0.022718	T	0.04363	0.0120	L	0.44542	1.39	0.37028	D	0.896562	B	0.28208	0.203	B	0.27262	0.078	T	0.51585	-0.8687	10	0.13853	T	0.58	-19.0517	20.0589	0.97667	0.0:0.0:1.0:0.0	.	500	Q7Z304	MAMC2_HUMAN	Q	500	ENSP00000366387:E500Q	ENSP00000366387:E500Q	E	+	1	0	MAMDC2	71973531	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.233000	0.78125	2.732000	0.93576	0.650000	0.86243	GAG	MAMDC2	-	NULL	ENSG00000165072		0.428	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	HGNC	protein_coding	OTTHUMT00000052600.1	-	0.00	33	0	G	NM_153267	Missense_Mutation	72783711	+1	tier1	-	no_errors	ENST00000377182	ensembl	human	known	74_37	missense	32.65	33	16	SNP	1.000	C
MIR514A2	574517	genome.wustl.edu	37	X	146363520	146363520	+	RNA	SNP	A	A	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chrX:146363520A>C	ENST00000385131.1	-	0	28				MIR514A3_ENST00000385132.1_RNA|MIR514A1_ENST00000385133.1_RNA	NR_030239.1|NR_030240.1				microRNA 514a-2																		CATGATTGTCACTCTCCAGAG	0.433																																																	0													2.0	3.0	2.0					X																	146363520		1095	2553	3648			0					Xq27.3	2011-11-14	2011-11-14	2011-11-14	ENSG00000207866	ENSG00000207866		"""ncRNAs / Micro RNAs"""	32149	non-coding RNA	RNA, micro			"""microRNA 514-2"""	MIRN514-2, MIR514-2			Standard	NR_030239		Approved	hsa-mir-514-2	uc011mww.2				X.37:g.146363520A>C				RNA	SNP	-	NULL	ENST00000385131.1	37	NULL		X																																																																																			MIR514A2	-	-	ENSG00000207866		0.433	MIR514A2-201	KNOWN	basic	miRNA	MIR514A2	HGNC	miRNA		-	0.00	22	0	A	NR_030239		146363520	-1	tier1	-	no_errors	ENST00000385131	ensembl	human	known	74_37	rna	50.00	14	14	SNP	0.000	C
MOB1B	92597	genome.wustl.edu	37	4	71840984	71840984	+	Silent	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr4:71840984G>T	ENST00000309395.2	+	4	591	c.390G>T	c.(388-390)acG>acT	p.T130T	MOB1B_ENST00000396051.2_Silent_p.T135T|MOB1B_ENST00000511449.1_Intron	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	130					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										ATGATGAGACGTTATTTCCAT	0.348																																																	0													95.0	98.0	97.0					4																	71840984		2203	4300	6503	SO:0001819	synonymous_variant	0			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.390G>T	4.37:g.71840984G>T			B2R8U6|B4DRY3|Q8IY23	Silent	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.T130	ENST00000309395.2	37	c.390	CCDS34002.1	4																																																																																			MOB1B	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000173542		0.348	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1B	HGNC	protein_coding	OTTHUMT00000362634.1		0.00	48	0	G	NM_173468		71840984	+1			no_errors	ENST00000309395	ensembl	human	known	74_37	silent	6.90	27	2	SNP	0.183	T
MOSPD1	56180	genome.wustl.edu	37	X	134033227	134033227	+	Intron	DEL	T	T	-			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chrX:134033227delT	ENST00000370783.3	-	3	341				MOSPD1_ENST00000491609.1_Intron|MOSPD1_ENST00000370779.4_Intron|MOSPD1_ENST00000370777.1_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					GCCATTAGTGTTTTTTTTTTT	0.353																																																	0										79,762,2880		0,0,64,15,2,555,203,971,319	70.0	70.0	70.0			2.5	0.8	X		76	131,1554,4799		0,0,77,54,0,865,689,1415,1027	no	intron	MOSPD1	NM_019556.1		0,0,141,69,2,1420,892,2386,1346	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		25.987,22.6015,24.7526			134033227	210,2316,7679	2203	4300	6503	SO:0001627	intron_variant	0			Z83826	CCDS14645.1	Xq26.3	2008-02-05			ENSG00000101928	ENSG00000101928			25235	protein-coding gene	gene with protein product		300674				15533722	Standard	XM_005262446		Approved	dJ473B4	uc004eyb.3	Q9UJG1	OTTHUMG00000035315	ENST00000370783.3:c.155-32A>-	X.37:g.134033227delT			B2RE62|D3DTG5|Q5H9C5|Q5H9C7	RNA	DEL	-	NULL	ENST00000370783.3	37	NULL	CCDS14645.1	X																																																																																			MOSPD1	-	-	ENSG00000101928		0.353	MOSPD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MOSPD1	HGNC	protein_coding	OTTHUMT00000085439.1		0.00	30	0	T	NM_019556		134033227	-1	tier1		no_errors	ENST00000462060	ensembl	human	known	74_37	rna	16.13	26	5	DEL	0.001	-
NFE2L2	4780	genome.wustl.edu	37	2	178098944	178098945	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:178098944_178098945insT	ENST00000397062.3	-	2	654_655	c.100_101insA	c.(100-102)cgafs	p.R34fs	NFE2L2_ENST00000446151.2_Frame_Shift_Ins_p.R18fs|NFE2L2_ENST00000464747.1_Frame_Shift_Ins_p.R18fs|NFE2L2_ENST00000397063.4_Frame_Shift_Ins_p.R18fs|NFE2L2_ENST00000423513.1_Frame_Shift_Ins_p.R18fs	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	34					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34Q(10)|p.R34G(4)|p.R34P(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AAATACTTCTCGACTTACTCCA	0.371			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	16	Substitution - Missense(16)	lung(14)|endometrium(2)																																								SO:0001589	frameshift_variant	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.100_101insA	2.37:g.178098944_178098945insT	ENSP00000380252:p.Arg34fs		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Frame_Shift_Ins	INS	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.R34fs	ENST00000397062.3	37	c.101_100	CCDS42782.1	2																																																																																			NFE2L2	-	NULL	ENSG00000116044		0.371	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0.00	55	0	-	NM_006164		178098945	-1	tier1		no_errors	ENST00000397062	ensembl	human	known	74_37	frame_shift_ins	10.53	17	2	INS	1.000:1.000	T
NFE2L2	4780	genome.wustl.edu	37	2	178098928	178098928	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:178098928G>T	ENST00000397062.3	-	2	671	c.117C>A	c.(115-117)ttC>ttA	p.F39L	NFE2L2_ENST00000446151.2_Missense_Mutation_p.F23L|NFE2L2_ENST00000464747.1_Missense_Mutation_p.F23L|NFE2L2_ENST00000397063.4_Missense_Mutation_p.F23L|NFE2L2_ENST00000423513.1_Missense_Mutation_p.F23L	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	39					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GTCGCTGACTGAAGTCAAATA	0.383			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													90.0	82.0	85.0					2																	178098928		1842	4098	5940	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.117C>A	2.37:g.178098928G>T	ENSP00000380252:p.Phe39Leu		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.F39L	ENST00000397062.3	37	c.117	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316609	0.60524	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.78	1.98	0.26296	.	0.142952	0.64402	D	0.000004	T	0.31702	0.0805	M	0.61703	1.905	0.40772	D	0.983098	B;P;B;B	0.52463	0.307;0.953;0.264;0.307	B;B;B;B	0.44315	0.048;0.446;0.077;0.048	T	0.08868	-1.0701	10	0.51188	T	0.08	.	9.8562	0.41088	0.4913:0.0:0.5087:0.0	.	23;23;23;39	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	L	23;39;23;23;23;23;23	ENSP00000380253:F23L;ENSP00000380252:F39L;ENSP00000411575:F23L;ENSP00000391590:F23L;ENSP00000400073:F23L;ENSP00000412191:F23L;ENSP00000410015:F23L	ENSP00000380252:F39L	F	-	3	2	NFE2L2	177807174	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	0.805000	0.27112	0.086000	0.17137	0.563000	0.77884	TTC	NFE2L2	-	NULL	ENSG00000116044		0.383	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4		0.00	60	0	G	NM_006164		178098928	-1			no_errors	ENST00000397062	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	T
NR1H4	9971	genome.wustl.edu	37	12	100955761	100955761	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:100955761G>T	ENST00000551379.1	+	8	1235	c.1207G>T	c.(1207-1209)Gtt>Ttt	p.V403F	NR1H4_ENST00000549996.1_Missense_Mutation_p.V342F|NR1H4_ENST00000548884.1_Missense_Mutation_p.V389F|NR1H4_ENST00000392986.3_Missense_Mutation_p.V393F|NR1H4_ENST00000188403.7_Missense_Mutation_p.V399F			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	403	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TACAGCAATTGTTATCCTGTC	0.299																																																	0													73.0	74.0	74.0					12																	100955761		2203	4296	6499	SO:0001583	missense	0			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.1207G>T	12.37:g.100955761G>T	ENSP00000447149:p.Val403Phe		A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Missense_Mutation	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_ThyrH_rcpt	p.V403F	ENST00000551379.1	37	c.1207	CCDS55876.1	12	.	.	.	.	.	.	.	.	.	.	G	21.8	4.195800	0.78902	.	.	ENSG00000012504	ENST00000548884;ENST00000392986;ENST00000549996;ENST00000551379;ENST00000188403	D;D;D;D;D	0.96745	-4.11;-4.11;-4.11;-4.11;-4.11	5.75	5.75	0.90469	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.118865	0.64402	D	0.000014	D	0.98118	0.9379	M	0.78801	2.425	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.76575	0.986;0.988;0.981;0.988;0.968	D	0.98559	1.0640	10	0.72032	D	0.01	.	19.9564	0.97221	0.0:0.0:1.0:0.0	.	342;403;399;393;389	F8VYG8;Q96RI1;Q96RI1-4;F1DAL1;B6ZGS9	.;NR1H4_HUMAN;.;.;.	F	389;393;342;403;399	ENSP00000448506:V389F;ENSP00000376712:V393F;ENSP00000448978:V342F;ENSP00000447149:V403F;ENSP00000188403:V399F	ENSP00000188403:V399F	V	+	1	0	NR1H4	99479892	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.459000	0.73513	2.708000	0.92522	0.650000	0.86243	GTT	NR1H4	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt	ENSG00000012504		0.299	NR1H4-006	KNOWN	basic|CCDS	protein_coding	NR1H4	HGNC	protein_coding	OTTHUMT00000409140.1		0.00	28	0	G	NM_005123		100955761	+1			no_errors	ENST00000551379	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	T
OLAH	55301	genome.wustl.edu	37	10	15091715	15091715	+	Silent	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr10:15091715C>A	ENST00000378228.3	+	3	368	c.114C>A	c.(112-114)ggC>ggA	p.G38G	OLAH_ENST00000378217.3_Silent_p.G38G	NM_001039702.2	NP_001034791.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	38					fatty acid biosynthetic process (GO:0006633)		myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						TGGGAGGTGGCTCCACTCATT	0.373																																																	0													77.0	74.0	75.0					10																	15091715		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001844	CCDS7106.1, CCDS31152.1	10p13	2010-11-23	2006-07-07	2006-07-07	ENSG00000152463	ENSG00000152463	3.1.2.14		25625	protein-coding gene	gene with protein product			"""thioesterase domain containing 1"""	THEDC1			Standard	NM_018324		Approved	FLJ11106, SAST	uc001inu.2	Q9NV23	OTTHUMG00000017724	ENST00000378228.3:c.114C>A	10.37:g.15091715C>A			Q5VUB6|Q9NUW1	Silent	SNP	pfam_Thioesterase	p.G38	ENST00000378228.3	37	c.114	CCDS31152.1	10																																																																																			OLAH	-	NULL	ENSG00000152463		0.373	OLAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OLAH	HGNC	protein_coding	OTTHUMT00000046964.1	-	0.00	54	0	C	NM_018324		15091715	+1	tier1	-	no_errors	ENST00000378217	ensembl	human	known	74_37	silent	48.65	19	18	SNP	0.992	A
OR6C2	341416	genome.wustl.edu	37	12	55846702	55846702	+	Silent	SNP	C	C	T	rs182901840		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr12:55846702C>T	ENST00000322678.1	+	1	705	c.705C>T	c.(703-705)gcC>gcT	p.A235A	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	235					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GGAAAAAGGCCTTTTCTACCT	0.413																																																	0													145.0	136.0	139.0					12																	55846702		2203	4300	6503	SO:0001819	synonymous_variant	0			AF179766	CCDS31824.1	12q13.2	2012-08-09				ENSG00000179695		"""GPCR / Class A : Olfactory receptors"""	15436	protein-coding gene	gene with protein product							Standard	NM_054105		Approved	OR6C67	uc001sgz.1	Q9NZP2	OTTHUMG00000169957	ENST00000322678.1:c.705C>T	12.37:g.55846702C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A235	ENST00000322678.1	37	c.705	CCDS31824.1	12																																																																																			OR6C2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000179695		0.413	OR6C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C2	HGNC	protein_coding	OTTHUMT00000406676.1	-	0.00	46	0	C	NM_054105		55846702	+1	tier1	-	no_errors	ENST00000322678	ensembl	human	known	74_37	silent	29.03	44	18	SNP	0.961	T
PI4KB	5298	genome.wustl.edu	37	1	151278723	151278723	+	Silent	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:151278723G>A	ENST00000368873.1	-	5	1467	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	PI4KB_ENST00000368874.4_Silent_p.P418P|PI4KB_ENST00000271657.5_Silent_p.P445P|PI4KB_ENST00000368875.2_Silent_p.P445P|PI4KB_ENST00000529142.1_Silent_p.P101P|PI4KB_ENST00000368872.1_Silent_p.P418P			Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	433					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TACCACATTCGGGCAAGTTTT	0.537																																					Colon(154;765 1838 9854 28443 37492)												0													94.0	83.0	87.0					1																	151278723		2203	4300	6503	SO:0001819	synonymous_variant	0			AB005910	CCDS993.1, CCDS55637.1, CCDS55638.1	1q21	2008-02-05	2007-08-14	2007-08-02	ENSG00000143393	ENSG00000143393			8984	protein-coding gene	gene with protein product		602758		PIK4CB		9020160, 9405938	Standard	NM_002651		Approved	PI4K-BETA, pi4K92	uc001exu.3	Q9UBF8	OTTHUMG00000012348	ENST00000368873.1:c.1299C>T	1.37:g.151278723G>A			B4DGI2|O15096|P78405|Q5VWB9|Q5VWC0|Q5VWC1|Q9BWR6	Silent	SNP	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P445	ENST00000368873.1	37	c.1335		1																																																																																			PI4KB	-	superfamily_Kinase-like_dom	ENSG00000143393		0.537	PI4KB-002	KNOWN	basic	protein_coding	PI4KB	HGNC	protein_coding	OTTHUMT00000034400.3	-	0.00	54	0	G	NM_002651		151278723	-1	tier1	-	no_errors	ENST00000271657	ensembl	human	known	74_37	silent	54.17	33	39	SNP	0.020	A
PIK3C2A	5286	genome.wustl.edu	37	11	17111318	17111318	+	Silent	SNP	T	T	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr11:17111318T>C	ENST00000265970.7	-	32	5027	c.5028A>G	c.(5026-5028)aaA>aaG	p.K1676K	PIK3C2A_ENST00000540361.1_Silent_p.K1296K|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1676					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GCTGATACCATTTAACCGTCT	0.418																																																	0													159.0	151.0	154.0					11																	17111318		2200	4294	6494	SO:0001819	synonymous_variant	0			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.5028A>G	11.37:g.17111318T>C			B0LPH2|B4E2G4|Q14CQ9	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.K1676	ENST00000265970.7	37	c.5028	CCDS7824.1	11																																																																																			PIK3C2A	-	superfamily_C2_dom,smart_C2_dom	ENSG00000011405		0.418	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	-	0.00	31	0	T	NM_002645		17111318	-1	tier1	-	no_errors	ENST00000265970	ensembl	human	known	74_37	silent	22.81	44	13	SNP	1.000	C
PMFBP1	83449	genome.wustl.edu	37	16	72154011	72154011	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:72154011G>A	ENST00000355636.6	-	20	2984	c.2371C>T	c.(2371-2373)Cgt>Tgt	p.R791C	PMFBP1_ENST00000537792.1_Intron|PMFBP1_ENST00000537465.1_Intron|PMFBP1_ENST00000237353.10_Intron	NM_001160213.1	NP_001153685.1	Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	928						cytoplasm (GO:0005737)				NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGGAAGGACGGGTTGTGTTG	0.517																																																	0													205.0	226.0	219.0					16																	72154011		2198	4300	6498	SO:0001583	missense	0			AF239683	CCDS32483.1	16q23.1	2008-08-04			ENSG00000118557	ENSG00000118557			17728	protein-coding gene	gene with protein product						11468771	Standard	NM_031293		Approved		uc002fcd.3	Q8TBY8	OTTHUMG00000167827	ENST00000355636.6:c.2371C>T	16.37:g.72154011G>A	ENSP00000347854:p.Arg791Cys		B3KVI9|H7BY07|Q8NA09|Q9BY16|Q9H0H4	Missense_Mutation	SNP	NULL	p.R791C	ENST00000355636.6	37	c.2371		16	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943300	0.53079	.	.	ENSG00000118557	ENST00000355636	T	0.15952	2.38	4.66	2.34	0.29019	.	.	.	.	.	T	0.07999	0.0200	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.40664	-0.9551	6	.	.	.	.	6.9738	0.24664	0.8037:0.0:0.1963:0.0	.	.	.	.	C	791	ENSP00000347854:R791C	.	R	-	1	0	PMFBP1	70711512	0.017000	0.18338	0.001000	0.08648	0.036000	0.12997	0.455000	0.21843	0.358000	0.24211	-0.373000	0.07131	CGT	PMFBP1	-	NULL	ENSG00000118557		0.517	PMFBP1-201	KNOWN	basic|appris_candidate	protein_coding	PMFBP1	HGNC	protein_coding		-	0.00	78	0	G	NM_031293		72154011	-1	tier1	-	no_errors	ENST00000355636	ensembl	human	known	74_37	missense	35.06	48	27	SNP	0.002	A
PNOC	5368	genome.wustl.edu	37	8	28196578	28196578	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr8:28196578G>A	ENST00000301908.3	+	3	356	c.148G>A	c.(148-150)Gag>Aag	p.E50K	PNOC_ENST00000522209.1_5'UTR|RP11-380I10.4_ENST00000521731.1_RNA	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	50					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGAGTGTGAAGAGAAGGTCTT	0.612																																																	0													80.0	81.0	81.0					8																	28196578		2203	4300	6503	SO:0001583	missense	0				CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.148G>A	8.37:g.28196578G>A	ENSP00000301908:p.Glu50Lys		B7Z749|Q6FH16	Missense_Mutation	SNP	pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept	p.E50K	ENST00000301908.3	37	c.148	CCDS6066.1	8	.	.	.	.	.	.	.	.	.	.	G	17.58	3.424029	0.62733	.	.	ENSG00000168081	ENST00000518479;ENST00000301908	T;T	0.78481	0.83;-1.18	4.88	2.04	0.26737	.	0.439500	0.27509	N	0.019049	T	0.63698	0.2533	L	0.36672	1.1	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.52305	-0.8593	10	0.36615	T	0.2	-4.3497	6.3866	0.21563	0.1725:0.1514:0.6761:0.0	.	50	Q13519	PNOC_HUMAN	K	50	ENSP00000428059:E50K;ENSP00000301908:E50K	ENSP00000301908:E50K	E	+	1	0	PNOC	28252497	0.999000	0.42202	0.982000	0.44146	0.978000	0.69477	2.942000	0.49018	0.235000	0.21160	0.655000	0.94253	GAG	PNOC	-	pfam_Opioid_neupept,prints_Nociceptin,prints_Opioid_neupept	ENSG00000168081		0.612	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNOC	HGNC	protein_coding	OTTHUMT00000219964.2	-	0.00	46	0	G	NM_006228		28196578	+1	tier1	-	no_errors	ENST00000301908	ensembl	human	known	74_37	missense	65.52	10	19	SNP	0.996	A
POLR3A	11128	genome.wustl.edu	37	10	79784767	79784767	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr10:79784767C>T	ENST00000372371.3	-	4	589	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	151					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)	p.R151L(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTTTTTCTTCCGGCACTTGTC	0.463																																																	1	Substitution - Missense(1)	lung(1)											135.0	124.0	128.0					10																	79784767		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.452G>A	10.37:g.79784767C>T	ENSP00000361446:p.Arg151Gln		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.R151Q	ENST00000372371.3	37	c.452	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	c	23.1	4.381151	0.82792	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.21734	1.99	5.63	4.62	0.57501	RNA polymerase Rpb1, domain 1 (1);	0.116055	0.56097	D	0.000040	T	0.33990	0.0882	M	0.69463	2.115	0.41035	D	0.985186	D	0.58970	0.984	P	0.52957	0.714	T	0.03784	-1.1004	9	.	.	.	-19.9268	13.068	0.59045	0.0:0.8941:0.0:0.1059	.	151	O14802	RPC1_HUMAN	Q	151	ENSP00000361446:R151Q	.	R	-	2	0	POLR3A	79454773	1.000000	0.71417	0.976000	0.42696	0.632000	0.37999	4.566000	0.60843	2.656000	0.90262	0.550000	0.68814	CGG	POLR3A	-	pfam_RNA_pol_Rpb1_1	ENSG00000148606		0.463	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1		0.00	42	0	C	NM_007055		79784767	-1			no_errors	ENST00000372371	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.986	T
POTEJ	653781	genome.wustl.edu	37	2	131414147	131414147	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:131414147G>C	ENST00000409602.1	+	15	1866	c.1814G>C	c.(1813-1815)aGa>aCa	p.R605T		NM_001277083.1	NP_001264012.1	P0CG39	POTEJ_HUMAN	POTE ankyrin domain family, member J	605					retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(5)	5						AAGAAAGAAAGAGACTTCTTG	0.328																																																	0																																										SO:0001583	missense	0				CCDS59432.1	2q21.1	2013-01-10			ENSG00000222038	ENSG00000222038		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37094	protein-coding gene	gene with protein product						16364570	Standard	NM_001277083		Approved	POTE2beta	uc021vor.2	P0CG39	OTTHUMG00000154050	ENST00000409602.1:c.1814G>C	2.37:g.131414147G>C	ENSP00000387176:p.Arg605Thr			Missense_Mutation	SNP	pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related	p.R605T	ENST00000409602.1	37	c.1814	CCDS59432.1	2	.	.	.	.	.	.	.	.	.	.	.	3.585	-0.084723	0.07097	.	.	ENSG00000222038	ENST00000409602	T	0.75704	-0.96	0.993	0.993	0.19825	.	.	.	.	.	T	0.56396	0.1982	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.51220	-0.8733	7	0.87932	D	0	.	4.1752	0.10348	0.5218:0.0:0.4782:0.0	.	.	.	.	T	605	ENSP00000387176:R605T	ENSP00000387176:R605T	R	+	2	0	POTEJ	131130617	0.003000	0.15002	0.005000	0.12908	0.004000	0.04260	1.041000	0.30291	-0.094000	0.12374	-1.451000	0.01035	AGA	POTEJ	-	NULL	ENSG00000222038		0.328	POTEJ-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEJ	HGNC	protein_coding	OTTHUMT00000333665.1	-	0.00	317	0	G	XM_929706		131414147	+1	tier1	-	no_errors	ENST00000409602	ensembl	human	novel	74_37	missense	32.44	152	73	SNP	0.012	C
POU6F2	11281	genome.wustl.edu	37	7	39247015	39247015	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr7:39247015G>A	ENST00000403058.1	+	5	461	c.307G>A	c.(307-309)Gct>Act	p.A103T	POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.A95T|POU6F2_ENST00000518318.2_Missense_Mutation_p.A103T	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	103					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						ACAGCAGTTAGCTTCTGCTGT	0.557																																																	0													88.0	92.0	91.0					7																	39247015		2203	4300	6503	SO:0001583	missense	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.307G>A	7.37:g.39247015G>A	ENSP00000384004:p.Ala103Thr		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.A103T	ENST00000403058.1	37	c.307	CCDS34620.2	7	.	.	.	.	.	.	.	.	.	.	G	36	5.642877	0.96704	.	.	ENSG00000106536	ENST00000403058;ENST00000518318;ENST00000451021	D;D	0.89875	-2.58;-2.54	5.87	5.87	0.94306	.	0.600530	0.16919	N	0.194175	D	0.93103	0.7804	L	0.44542	1.39	0.53005	D	0.999968	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.989	D	0.92695	0.6170	10	0.72032	D	0.01	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	103;103	P78424-2;P78424	.;PO6F2_HUMAN	T	103;103;104	ENSP00000384004:A103T;ENSP00000430514:A103T	ENSP00000384004:A103T	A	+	1	0	POU6F2	39213540	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.420000	0.97426	2.941000	0.99782	0.655000	0.94253	GCT	POU6F2	-	NULL	ENSG00000106536		0.557	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	-	0.00	30	0	G	NM_007252		39247015	+1	tier1	-	no_errors	ENST00000403058	ensembl	human	known	74_37	missense	14.29	24	4	SNP	1.000	A
PPRC1	23082	genome.wustl.edu	37	10	103908361	103908361	+	Intron	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr10:103908361G>T	ENST00000278070.2	+	11	4589				PPRC1_ENST00000370012.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TGTTTGGGGGGCTGATGACAC	0.502																																																	0													164.0	159.0	161.0					10																	103908361		2203	4300	6503	SO:0001627	intron_variant	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4551-24G>T	10.37:g.103908361G>T			Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	RNA	SNP	-	NULL	ENST00000278070.2	37	NULL	CCDS7529.1	10																																																																																			PPRC1	-	-	ENSG00000148840		0.502	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	-	0.00	55	0	G	NM_015062		103908361	+1	tier1	-	no_errors	ENST00000495914	ensembl	human	known	74_37	rna	28.85	37	15	SNP	0.000	T
RAB2A	5862	genome.wustl.edu	37	8	61496839	61496839	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr8:61496839G>A	ENST00000262646.7	+	4	610	c.259G>A	c.(259-261)Gat>Aat	p.D87N	RAB2A_ENST00000531289.1_Missense_Mutation_p.D63N|RAB2A_ENST00000529579.1_Missense_Mutation_p.D87N|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	87					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D87Y(1)		endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			ACTAGTTTACGATATTACACG	0.378																																																	1	Substitution - Missense(1)	lung(1)											135.0	131.0	132.0					8																	61496839		2203	4300	6503	SO:0001583	missense	0				CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.259G>A	8.37:g.61496839G>A	ENSP00000262646:p.Asp87Asn		B2R5W8|B4DMQ5|P08886	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.D87N	ENST00000262646.7	37	c.259	CCDS6175.1	8	.	.	.	.	.	.	.	.	.	.	G	36	5.623799	0.96660	.	.	ENSG00000104388	ENST00000262646;ENST00000531289;ENST00000529579;ENST00000543829	D;D;D	0.86769	-2.17;-2.17;-2.17	5.84	5.84	0.93424	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.95743	0.8615	H	0.94264	3.515	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.96232	0.9169	10	0.87932	D	0	.	20.1322	0.98003	0.0:0.0:1.0:0.0	.	63;87	B4DMQ5;P61019	.;RAB2A_HUMAN	N	87;63;87;41	ENSP00000262646:D87N;ENSP00000431846:D63N;ENSP00000431589:D87N	ENSP00000262646:D87N	D	+	1	0	RAB2A	61659393	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.869000	0.99810	2.765000	0.95021	0.484000	0.47621	GAT	RAB2A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000104388		0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	HGNC	protein_coding	OTTHUMT00000259145.2	-	0.00	66	0	G			61496839	+1	tier1	-	no_errors	ENST00000262646	ensembl	human	known	74_37	missense	21.82	43	12	SNP	1.000	A
RPE65	6121	genome.wustl.edu	37	1	68906589	68906589	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:68906589C>A	ENST00000262340.5	-	6	643	c.590G>T	c.(589-591)gGa>gTa	p.G197V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	197					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AAAATTTTTTCCAAAGCAATT	0.398																																																	0													83.0	86.0	85.0					1																	68906589		2203	4300	6503	SO:0001583	missense	0			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.590G>T	1.37:g.68906589C>A	ENSP00000262340:p.Gly197Val		A8K1L0|Q5T9U3	Missense_Mutation	SNP	pfam_Carotenoid_Oase	p.G197V	ENST00000262340.5	37	c.590	CCDS643.1	1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803134	0.70682	.	.	ENSG00000116745	ENST00000262340	D	0.95588	-3.75	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.96697	0.8922	L	0.57536	1.79	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.96038	0.9022	10	0.45353	T	0.12	-22.9706	19.2249	0.93815	0.0:1.0:0.0:0.0	.	197	Q16518	RPE65_HUMAN	V	197	ENSP00000262340:G197V	ENSP00000262340:G197V	G	-	2	0	RPE65	68679177	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.678000	0.68153	2.537000	0.85549	0.585000	0.79938	GGA	RPE65	-	pfam_Carotenoid_Oase	ENSG00000116745		0.398	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPE65	HGNC	protein_coding	OTTHUMT00000025509.1	-	0.00	28	0	C	NM_000329		68906589	-1	tier1	-	no_errors	ENST00000262340	ensembl	human	known	74_37	missense	45.00	11	9	SNP	1.000	A
RGL1	23179	genome.wustl.edu	37	1	183867029	183867029	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:183867029A>G	ENST00000360851.3	+	10	1406	c.1228A>G	c.(1228-1230)Atg>Gtg	p.M410V	RGL1_ENST00000536277.1_Missense_Mutation_p.M408V|RGL1_ENST00000539189.1_Missense_Mutation_p.M410V|RGL1_ENST00000304685.4_Missense_Mutation_p.M445V			Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	410	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				cellular lipid metabolic process (GO:0044255)|positive regulation of Ral GTPase activity (GO:0032852)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	Ral guanyl-nucleotide exchange factor activity (GO:0008321)			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CCAGAAGGACATGGTATGTCT	0.552																																																	0													72.0	75.0	74.0					1																	183867029		2203	4300	6503	SO:0001583	missense	0			AF186780	CCDS1359.1, CCDS72992.1	1q25.2	2008-02-05			ENSG00000143344	ENSG00000143344			30281	protein-coding gene	gene with protein product		605667				10760592, 10231032	Standard	XM_005245010		Approved	RGL	uc001gqm.3	Q9NZL6	OTTHUMG00000035328	ENST00000360851.3:c.1228A>G	1.37:g.183867029A>G	ENSP00000354097:p.Met410Val		Q5SXQ2|Q5SXQ6|Q9HBY3|Q9HBY4|Q9NZL5|Q9UG43|Q9Y2G6	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.M445V	ENST00000360851.3	37	c.1333		1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.423581	0.62733	.	.	ENSG00000143344	ENST00000304685;ENST00000367531;ENST00000536277;ENST00000543395;ENST00000360851;ENST00000539189	T;T;T;T;T	0.28666	1.76;1.76;1.76;1.76;1.6	5.34	5.34	0.76211	Guanine-nucleotide dissociation stimulator CDC25 (3);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.37461	0.1004	L	0.44542	1.39	0.22771	N	0.998751	P;D;B;D;D	0.53312	0.949;0.959;0.0;0.959;0.959	P;P;B;P;P	0.51615	0.546;0.675;0.002;0.675;0.675	T	0.21109	-1.0255	10	0.29301	T	0.29	.	15.304	0.73979	1.0:0.0:0.0:0.0	.	410;408;215;410;445	F5H6U6;B7Z2W5;F5H3C3;Q9NZL6;Q5SXQ6	.;.;.;RGL1_HUMAN;.	V	445;445;408;215;410;410	ENSP00000303192:M445V;ENSP00000356501:M445V;ENSP00000438662:M408V;ENSP00000354097:M410V;ENSP00000437355:M410V	ENSP00000303192:M445V	M	+	1	0	RGL1	182133652	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	5.722000	0.68485	2.019000	0.59389	0.533000	0.62120	ATG	RGL1	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000143344		0.552	RGL1-002	KNOWN	basic|appris_candidate	protein_coding	RGL1	HGNC	protein_coding	OTTHUMT00000085742.1	-	0.00	35	0	A	NM_015149		183867029	+1	tier1	-	no_errors	ENST00000304685	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	G
SALL1	6299	genome.wustl.edu	37	16	51174133	51174133	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:51174133G>A	ENST00000251020.4	-	2	2033	c.2000C>T	c.(1999-2001)tCc>tTc	p.S667F	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S570F	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	667					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GAACTGCTCGGACATGAGCGG	0.597																																					GBM(103;1352 1446 1855 4775 8890)												0													61.0	65.0	64.0					16																	51174133		2198	4300	6498	SO:0001583	missense	0			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2000C>T	16.37:g.51174133G>A	ENSP00000251020:p.Ser667Phe		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S667F	ENST00000251020.4	37	c.2000	CCDS10747.1	16	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922772	0.52653	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.09255	3.01;3.0	4.79	4.79	0.61399	.	0.059554	0.64402	D	0.000001	T	0.31104	0.0786	M	0.77313	2.365	0.80722	D	1	D	0.64830	0.994	P	0.58077	0.832	T	0.07770	-1.0755	10	0.62326	D	0.03	.	18.0351	0.89298	0.0:0.0:1.0:0.0	.	667	Q9NSC2	SALL1_HUMAN	F	667;570;631	ENSP00000251020:S667F;ENSP00000407914:S570F	ENSP00000251020:S667F	S	-	2	0	SALL1	49731634	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.674000	0.83992	2.478000	0.83669	0.557000	0.71058	TCC	SALL1	-	NULL	ENSG00000103449		0.597	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	-	0.00	61	0	G	NM_002968		51174133	-1	tier1	-	no_errors	ENST00000251020	ensembl	human	known	74_37	missense	38.78	29	19	SNP	1.000	A
SBSN	374897	genome.wustl.edu	37	19	36018071	36018071	+	Silent	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr19:36018071C>T	ENST00000452271.2	-	1	1141	c.1113G>A	c.(1111-1113)ggG>ggA	p.G371G	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	371	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CATGGTGGACCCCATGGCCGA	0.582																																																	0													54.0	52.0	53.0					19																	36018071		692	1591	2283	SO:0001819	synonymous_variant	0			AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.1113G>A	19.37:g.36018071C>T			A8K5J0|E9PBV3	Silent	SNP	NULL	p.G371	ENST00000452271.2	37	c.1113	CCDS54253.1	19																																																																																			SBSN	-	NULL	ENSG00000189001		0.582	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SBSN	HGNC	protein_coding	OTTHUMT00000109463.3	-	0.00	136	0	C	NM_198538		36018071	-1	tier1	-	no_errors	ENST00000452271	ensembl	human	novel	74_37	silent	33.08	87	43	SNP	0.630	T
SGIP1	84251	genome.wustl.edu	37	1	67108534	67108534	+	Silent	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:67108534C>T	ENST00000371037.4	+	6	347	c.270C>T	c.(268-270)ccC>ccT	p.P90P	SGIP1_ENST00000371035.3_Silent_p.P47P|SGIP1_ENST00000371036.3_Silent_p.P65P|SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Silent_p.P94P|SGIP1_ENST00000371039.1_Silent_p.P66P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	90					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of feeding behavior (GO:2000253)|positive regulation of receptor-mediated endocytosis (GO:0048260)|response to dietary excess (GO:0002021)	AP-2 adaptor complex (GO:0030122)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phospholipid binding (GO:0005543)|SH3 domain binding (GO:0017124)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GCATCAGACCCGAGGAACCCG	0.318																																																	0													67.0	76.0	73.0					1																	67108534		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136561	CCDS30744.1	1p31.3	2008-02-05			ENSG00000118473	ENSG00000118473			25412	protein-coding gene	gene with protein product		611540				11230166	Standard	NM_032291		Approved	DKFZp761D221	uc001dcr.3	Q9BQI5	OTTHUMG00000009161	ENST00000371037.4:c.270C>T	1.37:g.67108534C>T			A6NL81|A6NLD1|Q4LE32|Q5VYE2|Q5VYE3|Q5VYE4|Q68D76|Q6MZY6|Q8IWC2	Silent	SNP	pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C	p.P94	ENST00000371037.4	37	c.282	CCDS30744.1	1																																																																																			SGIP1	-	NULL	ENSG00000118473		0.318	SGIP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SGIP1	HGNC	protein_coding	OTTHUMT00000025395.4		0.00	44	0	C	NM_032291		67108534	+1			no_errors	ENST00000237247	ensembl	human	known	74_37	silent	18.18	36	8	SNP	0.048	T
SKOR1	390598	genome.wustl.edu	37	15	68122570	68122570	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr15:68122570G>A	ENST00000380035.2	+	4	2507	c.2449G>A	c.(2449-2451)Gaa>Aaa	p.E817K	RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Missense_Mutation_p.E720K|SKOR1_ENST00000389002.1_Missense_Mutation_p.E773K|SKOR1_ENST00000554054.1_Missense_Mutation_p.E789K|SKOR1_ENST00000554240.1_Missense_Mutation_p.E778K			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	817					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CGATGATTTGGAAACGAGGAA	0.517																																																	0													85.0	75.0	79.0					15																	68122570		2200	4298	6498	SO:0001583	missense	0				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2449G>A	15.37:g.68122570G>A	ENSP00000369374:p.Glu817Lys		A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like	p.E817K	ENST00000380035.2	37	c.2449		15	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861962	0.91433	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73	5.79	2.7	0.31948	.	0.198748	0.43747	D	0.000535	T	0.39253	0.1071	L	0.27053	0.805	0.36458	D	0.866513	D	0.55385	0.971	P	0.49421	0.61	T	0.40683	-0.9550	10	0.35671	T	0.21	-23.248	9.7721	0.40595	0.0733:0.2651:0.6616:0.0	.	773	P84550-3	.	K	720;778;789;817;773	ENSP00000343200:E720K;ENSP00000451193:E778K;ENSP00000452361:E789K;ENSP00000369374:E817K;ENSP00000373654:E773K	ENSP00000343200:E720K	E	+	1	0	SKOR1	65909624	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.026000	0.64103	0.765000	0.33221	0.655000	0.94253	GAA	SKOR1	-	NULL	ENSG00000188779		0.517	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	SKOR1	HGNC	protein_coding	OTTHUMT00000410832.1	-	0.00	68	0	G	NM_001031807		68122570	+1	tier1	-	no_errors	ENST00000380035	ensembl	human	known	74_37	missense	66.67	17	34	SNP	1.000	A
SLC18A3	6572	genome.wustl.edu	37	10	50820104	50820104	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr10:50820104G>T	ENST00000374115.3	+	1	1758	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395559.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	440					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CATAGTGGCAGGCCACATTGT	0.622																																																	0													52.0	38.0	43.0					10																	50820104		2203	4300	6503	SO:0001583	missense	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1318G>T	10.37:g.50820104G>T	ENSP00000363229:p.Gly440Cys		B2R7S1	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G440C	ENST00000374115.3	37	c.1318	CCDS7231.1	10	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453132	0.63290	.	.	ENSG00000187714	ENST00000374115	D	0.86694	-2.16	5.11	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.120240	0.56097	U	0.000024	D	0.92718	0.7685	M	0.86268	2.805	0.50813	D	0.999894	D	0.89917	1.0	D	0.87578	0.998	D	0.92782	0.6241	10	0.87932	D	0	0.179	8.8871	0.35409	0.2053:0.0:0.7947:0.0	.	440	Q16572	VACHT_HUMAN	C	440	ENSP00000363229:G440C	ENSP00000363229:G440C	G	+	1	0	SLC18A3	50490110	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	4.386000	0.59620	2.380000	0.81148	0.561000	0.74099	GGC	SLC18A3	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000187714		0.622	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	-	0.00	63	0	G	NM_003055		50820104	+1	tier1	-	no_errors	ENST00000374115	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.999	T
STAB1	23166	genome.wustl.edu	37	3	52551965	52551965	+	Nonsense_Mutation	SNP	C	C	A	rs375629208		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr3:52551965C>A	ENST00000321725.6	+	45	4783	c.4707C>A	c.(4705-4707)tgC>tgA	p.C1569*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1569	EGF-like 13. {ECO:0000255|PROSITE- ProRule:PRU00076, ECO:0000305}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CATGTACCTGCGACACAGCCC	0.602																																																	0													67.0	64.0	65.0					3																	52551965		2203	4300	6503	SO:0001587	stop_gained	0			AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.4707C>A	3.37:g.52551965C>A	ENSP00000312946:p.Cys1569*		A7E297|Q8IUH0|Q8IUH1|Q93072	Nonsense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C1569*	ENST00000321725.6	37	c.4707	CCDS33768.1	3	.	.	.	.	.	.	.	.	.	.	C	40	7.920866	0.98563	.	.	ENSG00000010327	ENST00000321725	.	.	.	4.81	-4.28	0.03732	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.223	0.48866	0.0:0.5214:0.0:0.4786	.	.	.	.	X	1569	.	ENSP00000312946:C1569X	C	+	3	2	STAB1	52527005	0.000000	0.05858	0.465000	0.27155	0.296000	0.27459	-0.867000	0.04241	-0.619000	0.05648	-1.090000	0.02178	TGC	STAB1	-	superfamily_FAS1_domain,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000010327		0.602	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB1	HGNC	protein_coding	OTTHUMT00000351380.2	-	0.00	31	0	C	NM_015136		52551965	+1	tier1	-	no_errors	ENST00000321725	ensembl	human	known	74_37	nonsense	48.15	14	13	SNP	0.035	A
STXBP6	29091	genome.wustl.edu	37	14	25325274	25325274	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr14:25325274C>A	ENST00000323944.5	-	4	770	c.319G>T	c.(319-321)Gct>Tct	p.A107S	STXBP6_ENST00000550887.1_Missense_Mutation_p.A107S|STXBP6_ENST00000358326.2_Missense_Mutation_p.A107S|STXBP6_ENST00000546511.1_Missense_Mutation_p.A107S|STXBP6_ENST00000419632.2_Missense_Mutation_p.A107S|STXBP6_ENST00000396700.1_Missense_Mutation_p.A107S|STXBP6_ENST00000548724.1_Missense_Mutation_p.A107S			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	107					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		TGGTCAAAAGCATTTTCAAAC	0.433																																																	0													97.0	84.0	89.0					14																	25325274		2203	4300	6503	SO:0001583	missense	0			AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.319G>T	14.37:g.25325274C>A	ENSP00000324302:p.Ala107Ser		D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Missense_Mutation	SNP	pfam_Synaptobrevin,pfscan_Synaptobrevin	p.A107S	ENST00000323944.5	37	c.319	CCDS9634.1	14	.	.	.	.	.	.	.	.	.	.	C	11.79	1.742966	0.30865	.	.	ENSG00000168952	ENST00000396700;ENST00000548724;ENST00000323944;ENST00000419632;ENST00000546511;ENST00000550887;ENST00000358326	.	.	.	5.14	4.21	0.49690	.	0.277840	0.39274	N	0.001415	T	0.42131	0.1189	L	0.40543	1.245	0.45261	D	0.998268	B	0.26002	0.139	B	0.19946	0.027	T	0.18493	-1.0335	9	0.08381	T	0.77	-24.7604	10.1087	0.42550	0.0:0.8943:0.0:0.1056	.	107	Q8NFX7	STXB6_HUMAN	S	107	.	ENSP00000324302:A107S	A	-	1	0	STXBP6	24395114	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	2.149000	0.42244	1.086000	0.41228	0.557000	0.71058	GCT	STXBP6	-	NULL	ENSG00000168952		0.433	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STXBP6	HGNC	protein_coding	OTTHUMT00000409166.1	-	0.00	28	0	C			25325274	-1	tier1	-	no_errors	ENST00000323944	ensembl	human	known	74_37	missense	29.41	24	10	SNP	1.000	A
SUPT5H	6829	genome.wustl.edu	37	19	39963105	39963105	+	Silent	SNP	C	C	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr19:39963105C>T	ENST00000599117.1	+	22	2374	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	SUPT5H_ENST00000598725.1_Silent_p.I669I|SUPT5H_ENST00000402194.2_Silent_p.I665I|SUPT5H_ENST00000359191.6_Silent_p.I665I|SUPT5H_ENST00000432763.2_Silent_p.I669I			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	669					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCCCCGGATCAGCAGCCCCA	0.602																																																	0													85.0	75.0	78.0					19																	39963105		2203	4300	6503	SO:0001819	synonymous_variant	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.2007C>T	19.37:g.39963105C>T			O43279|Q59G52|Q99639	Silent	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5	p.I669	ENST00000599117.1	37	c.2007	CCDS12536.1	19																																																																																			SUPT5H	-	pirsf_TF_Spt5	ENSG00000196235		0.602	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	-	0.00	75	0	C	NM_003169		39963105	+1	tier1	-	no_errors	ENST00000432763	ensembl	human	known	74_37	silent	34.94	54	29	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152614873	152614873	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr6:152614873C>G	ENST00000367255.5	-	95	18463	c.17862G>C	c.(17860-17862)aaG>aaC	p.K5954N	SYNE1_ENST00000341594.5_Missense_Mutation_p.K5566N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K5954N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5883N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5883N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K478N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5954					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTGTGCGCTGCTTCTCACTGA	0.468										HNSCC(10;0.0054)																																							0													108.0	103.0	104.0					6																	152614873		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17862G>C	6.37:g.152614873C>G	ENSP00000356224:p.Lys5954Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K5954N	ENST00000367255.5	37	c.17862	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757671	0.69648	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000540663;ENST00000537033	T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.37	3.57	0.40892	.	0.000000	0.56097	D	0.000030	T	0.43366	0.1244	M	0.64997	1.995	0.54753	D	0.999986	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.45804	-0.9236	10	0.87932	D	0	.	10.4264	0.44380	0.0:0.778:0.0:0.222	.	369;5954;5954;5883	B7ZBD0;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	5954;5883;5954;5883;5566;478;129;176	ENSP00000356224:K5954N;ENSP00000396024:K5883N;ENSP00000265368:K5954N;ENSP00000390975:K5883N;ENSP00000341887:K5566N;ENSP00000349276:K478N;ENSP00000437411:K129N	ENSP00000265368:K5954N	K	-	3	2	SYNE1	152656566	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.523000	0.35932	0.605000	0.29947	0.655000	0.94253	AAG	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.468	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0.00	38	0	C	NM_182961		152614873	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	6.25	45	3	SNP	1.000	G
TAOK2	9344	genome.wustl.edu	37	16	29998794	29998794	+	Silent	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:29998794C>A	ENST00000308893.4	+	16	4244	c.3201C>A	c.(3199-3201)ggC>ggA	p.G1067G	TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.G954G|TAOK2_ENST00000416441.2_Silent_p.G894G	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1067					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CAGCGGGGGGCAGATGGGTGC	0.697																																																	0													18.0	25.0	22.0					16																	29998794		2185	4290	6475	SO:0001819	synonymous_variant	0			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.3201C>A	16.37:g.29998794C>A			A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G1067	ENST00000308893.4	37	c.3201	CCDS10663.1	16																																																																																			TAOK2	-	NULL	ENSG00000149930		0.697	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	-	0.00	74	0	C	NM_016151		29998794	+1	tier1	-	no_errors	ENST00000308893	ensembl	human	known	74_37	silent	42.70	51	38	SNP	0.945	A
TCEB3B	51224	genome.wustl.edu	37	18	44560391	44560391	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr18:44560391G>T	ENST00000332567.4	-	1	1597	c.1245C>A	c.(1243-1245)aaC>aaA	p.N415K	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	415					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGGATTCGTTTGCTTTCC	0.507																																																	0													114.0	100.0	105.0					18																	44560391		2203	4300	6503	SO:0001583	missense	0			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1245C>A	18.37:g.44560391G>T	ENSP00000331302:p.Asn415Lys		Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.N415K	ENST00000332567.4	37	c.1245	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	G	1.093	-0.663579	0.03428	.	.	ENSG00000206181	ENST00000332567	T	0.06849	3.25	1.94	-3.88	0.04205	.	1.649140	0.05372	U	0.535551	T	0.04318	0.0119	N	0.20986	0.625	0.09310	N	1	B	0.19583	0.037	B	0.18871	0.023	T	0.40627	-0.9553	10	0.13853	T	0.58	.	0.5517	0.00664	0.3128:0.1637:0.3172:0.2064	.	415	Q8IYF1	ELOA2_HUMAN	K	415	ENSP00000331302:N415K	ENSP00000331302:N415K	N	-	3	2	TCEB3B	42814389	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.052000	0.01401	-2.440000	0.00550	-1.429000	0.01096	AAC	TCEB3B	-	NULL	ENSG00000206181		0.507	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1		0.00	92	0	G	NM_016427		44560391	-1			no_errors	ENST00000332567	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.000	T
TECTA	7007	genome.wustl.edu	37	11	120998865	120998865	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr11:120998865G>A	ENST00000392793.1	+	9	2450	c.2179G>A	c.(2179-2181)Gcc>Acc	p.A727T	TECTA_ENST00000264037.2_Missense_Mutation_p.A727T			O75443	TECTA_HUMAN	tectorin alpha	727	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CTTTGACGGCGCCTCCTACGC	0.622																																																	0													96.0	84.0	88.0					11																	120998865		2203	4299	6502	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.2179G>A	11.37:g.120998865G>A	ENSP00000376543:p.Ala727Thr			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.A727T	ENST00000392793.1	37	c.2179	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	5.953	0.359827	0.11296	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.59906	0.23;0.23	5.67	5.67	0.87782	von Willebrand factor, type D domain (3);	0.305688	0.36932	N	0.002330	T	0.26919	0.0659	N	0.00926	-1.1	0.26693	N	0.971319	B	0.12013	0.005	B	0.10450	0.005	T	0.05716	-1.0868	10	0.09590	T	0.72	.	14.9223	0.70847	0.0704:0.0:0.9296:0.0	.	727	O75443	TECTA_HUMAN	T	727	ENSP00000376543:A727T;ENSP00000264037:A727T	ENSP00000264037:A727T	A	+	1	0	TECTA	120504075	0.953000	0.32496	0.955000	0.39395	0.531000	0.34715	5.094000	0.64523	2.681000	0.91329	0.655000	0.94253	GCC	TECTA	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000109927		0.622	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0.00	35	0	G	NM_005422		120998865	+1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	27.78	26	10	SNP	0.899	A
TEPP	374739	genome.wustl.edu	37	16	58018605	58018605	+	Silent	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:58018605G>A	ENST00000441824.2	+	4	553	c.516G>A	c.(514-516)gcG>gcA	p.A172A	TEPP_ENST00000290871.5_Silent_p.A172A|TEPP_ENST00000569996.1_3'UTR	NM_199456.2	NP_955535.2	Q6URK8	TEPP_HUMAN	testis, prostate and placenta expressed	172						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	8						CGCCCATCGCGCCAGGCATCA	0.677																																																	0													26.0	24.0	24.0					16																	58018605		2193	4295	6488	SO:0001819	synonymous_variant	0			BC104458	CCDS10790.1, CCDS45496.1	16q13	2009-04-20			ENSG00000159648	ENSG00000159648			33745	protein-coding gene	gene with protein product		610264				14652002	Standard	NM_199456		Approved		uc002emv.4	Q6URK8	OTTHUMG00000133463	ENST00000441824.2:c.516G>A	16.37:g.58018605G>A			Q6URK7	Silent	SNP	NULL	p.A172	ENST00000441824.2	37	c.516	CCDS45496.1	16																																																																																			TEPP	-	NULL	ENSG00000159648		0.677	TEPP-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEPP	HGNC	protein_coding	OTTHUMT00000431966.1	-	0.00	83	0	G	NM_199456		58018605	+1	tier1	-	no_errors	ENST00000290871	ensembl	human	known	74_37	silent	34.18	52	27	SNP	0.037	A
TEX14	56155	genome.wustl.edu	37	17	56663385	56663385	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:56663385C>A	ENST00000240361.8	-	18	2950	c.2865G>T	c.(2863-2865)tgG>tgT	p.W955C	TEX14_ENST00000349033.5_Missense_Mutation_p.W949C|TEX14_ENST00000389934.3_Missense_Mutation_p.W949C			Q8IWB6	TEX14_HUMAN	testis expressed 14	955					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTGAGGATGCCAAGGAGGTA	0.502																																																	0													147.0	148.0	147.0					17																	56663385		2203	4300	6503	SO:0001583	missense	0			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.2865G>T	17.37:g.56663385C>A	ENSP00000240361:p.Trp955Cys		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.W955C	ENST00000240361.8	37	c.2865	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	19.15	3.772280	0.69992	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	D;D;T	0.82255	-1.59;-1.59;-1.48	5.38	5.38	0.77491	.	0.254221	0.30630	N	0.009216	D	0.89248	0.6661	M	0.62723	1.935	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.985;0.993;0.993	D	0.89359	0.3666	10	0.54805	T	0.06	-5.9715	14.6293	0.68645	0.0:1.0:0.0:0.0	.	955;949;949	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	C	955;949;949	ENSP00000240361:W955C;ENSP00000374584:W949C;ENSP00000268910:W949C	ENSP00000240361:W955C	W	-	3	0	TEX14	54018384	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.328000	0.43867	2.529000	0.85273	0.561000	0.74099	TGG	TEX14	-	NULL	ENSG00000121101		0.502	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	-	0.00	52	0	C			56663385	-1	tier1	-	no_errors	ENST00000240361	ensembl	human	known	74_37	missense	34.29	23	12	SNP	1.000	A
TLE1	7088	genome.wustl.edu	37	9	84268949	84268949	+	Silent	SNP	A	A	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr9:84268949A>C	ENST00000376499.3	-	5	1301	c.237T>G	c.(235-237)acT>acG	p.T79T	TLE1_ENST00000376463.1_Silent_p.T23T|TLE1_ENST00000376472.1_5'UTR	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	79	Gln-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TGGCGATTTCAGTCTATAAAG	0.378																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0													115.0	106.0	109.0					9																	84268949		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.237T>G	9.37:g.84268949A>C			A8K495|Q5T3G4|Q969V9	Silent	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.T79	ENST00000376499.3	37	c.237	CCDS6661.1	9																																																																																			TLE1	-	pfam_Groucho/TLE_N	ENSG00000196781		0.378	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	HGNC	protein_coding	OTTHUMT00000055407.1	-	0.00	27	0	A	NM_005077		84268949	-1	tier1	-	no_errors	ENST00000376499	ensembl	human	known	74_37	silent	23.81	16	5	SNP	0.990	C
TMCO4	255104	genome.wustl.edu	37	1	20066381	20066381	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr1:20066381A>C	ENST00000294543.6	-	12	1356	c.1115T>G	c.(1114-1116)gTg>gGg	p.V372G	TMCO4_ENST00000375122.2_Missense_Mutation_p.V332G|TMCO4_ENST00000375127.1_Missense_Mutation_p.V372G|TMCO4_ENST00000489814.1_5'Flank	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	372						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ATGGAGACACACCCCCCAGGG	0.612																																																	0													71.0	65.0	67.0					1																	20066381		2203	4300	6503	SO:0001583	missense	0				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1115T>G	1.37:g.20066381A>C	ENSP00000294543:p.Val372Gly		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.V372G	ENST00000294543.6	37	c.1115	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473868	0.84640	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.53206	0.63;0.63;0.63	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	M	0.92026	3.265	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.80372	-0.1410	10	0.87932	D	0	-14.442	13.1602	0.59540	1.0:0.0:0.0:0.0	.	372	Q5TGY1	TMCO4_HUMAN	G	372;372;332	ENSP00000294543:V372G;ENSP00000364269:V372G;ENSP00000364264:V332G	ENSP00000294543:V372G	V	-	2	0	TMCO4	19938968	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	8.738000	0.91569	2.052000	0.61016	0.533000	0.62120	GTG	TMCO4	-	pfam_DUF726,pfam_DUF900_hydrolase	ENSG00000162542		0.612	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	-	0.00	37	0	A	NM_181719		20066381	-1	tier1	-	no_errors	ENST00000294543	ensembl	human	known	74_37	missense	39.06	39	25	SNP	1.000	C
TNIP1	10318	genome.wustl.edu	37	5	150443229	150443229	+	Silent	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr5:150443229C>A	ENST00000389378.2	-	3	804	c.216G>T	c.(214-216)ctG>ctT	p.L72L	TNIP1_ENST00000521591.1_Silent_p.L72L|TNIP1_ENST00000518977.1_Silent_p.L72L|TNIP1_ENST00000520931.1_Silent_p.L19L|TNIP1_ENST00000523338.1_Silent_p.L72L|TNIP1_ENST00000523200.1_Silent_p.L72L|TNIP1_ENST00000522226.1_Silent_p.L72L|TNIP1_ENST00000315050.7_Silent_p.L72L|TNIP1_ENST00000524280.1_Silent_p.L72L	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	72					defense response (GO:0006952)|glycoprotein biosynthetic process (GO:0009101)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|modulation by symbiont of host I-kappaB kinase/NF-kappaB cascade (GO:0085032)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral genome replication (GO:0045071)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|translation (GO:0006412)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	mitogen-activated protein kinase binding (GO:0051019)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGGTGGGAGCAGCTCGTTGT	0.577																																																	0													105.0	109.0	108.0					5																	150443229		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ011895	CCDS34280.1, CCDS58982.1, CCDS58983.1, CCDS58984.1, CCDS58985.1, CCDS75359.1	5q32-q33.1	2008-07-18							16903	protein-coding gene	gene with protein product	"""virion-associated nuclear-shuttling protein"", ""Nef-associated factor 1 SNP"""	607714				9923610, 11090181	Standard	NM_001252385		Approved	NAF1, KIAA0113, ABIN-1, VAN	uc003ltj.3	Q15025		ENST00000389378.2:c.216G>T	5.37:g.150443229C>A			A4F1W8|A4F1W9|A4F1X2|A4F1X4|A4F1X5|A4F1X6|A4F1X7|A4F1X9|B7Z699|E7EPY1|E7ET96|O76008|Q05KP3|Q05KP4|Q6N077|Q96EL9|Q99833|Q9H1J3	Silent	SNP	superfamily_ARM-type_fold	p.L72	ENST00000389378.2	37	c.216	CCDS34280.1	5																																																																																			TNIP1	-	NULL	ENSG00000145901		0.577	TNIP1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNIP1	HGNC	protein_coding	OTTHUMT00000374914.1	-	0.00	94	0	C	NM_006058		150443229	-1	tier1	-	no_errors	ENST00000315050	ensembl	human	known	74_37	silent	39.82	68	45	SNP	0.006	A
TP53	7157	genome.wustl.edu	37	17	7577595	7577595	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:7577595C>A	ENST00000269305.4	-	7	875	c.686G>T	c.(685-687)tGt>tTt	p.C229F	TP53_ENST00000420246.2_Missense_Mutation_p.C229F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.C229F|TP53_ENST00000445888.2_Missense_Mutation_p.C229F|TP53_ENST00000413465.2_Missense_Mutation_p.C229F|TP53_ENST00000359597.4_Missense_Mutation_p.C229F	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	229	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (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.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(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)	GATGGTGGTACAGTCAGAGCC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	46	Deletion - Frameshift(17)|Whole gene deletion(8)|Substitution - Missense(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Complex - frameshift(1)	biliary_tract(13)|ovary(9)|breast(4)|bone(4)|oesophagus(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|urinary_tract(1)|skin(1)|lung(1)|pancreas(1)|liver(1)											105.0	86.0	92.0					17																	7577595		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.686G>T	17.37:g.7577595C>A	ENSP00000269305:p.Cys229Phe		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.C229F	ENST00000269305.4	37	c.686	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098420	0.20552	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99732	-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57;-6.57	4.48	0.0971	0.14493	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.350628	0.33346	N	0.005002	D	0.97483	0.9176	L	0.37561	1.115	0.44181	D	0.996996	B;P;B;B;B;P	0.45531	0.053;0.86;0.02;0.06;0.215;0.816	B;B;B;B;B;B	0.41466	0.06;0.358;0.048;0.108;0.231;0.256	D	0.98188	1.0461	10	0.02654	T	1	-0.3974	4.5049	0.11883	0.1548:0.5708:0.0:0.2744	.	229;229;136;229;229;229	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	229;229;229;229;229;229;218;136;97;136	ENSP00000410739:C229F;ENSP00000352610:C229F;ENSP00000269305:C229F;ENSP00000398846:C229F;ENSP00000391127:C229F;ENSP00000391478:C229F;ENSP00000425104:C97F;ENSP00000423862:C136F	ENSP00000269305:C229F	C	-	2	0	TP53	7518320	0.337000	0.24766	0.179000	0.23059	0.932000	0.56968	0.359000	0.20233	-0.019000	0.14055	0.462000	0.41574	TGT	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		0.00	72	0	C	NM_000546		7577595	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	6.09	20	7	SNP	0.864	A
TP53	7157	genome.wustl.edu	37	17	7577595	7577595	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr17:7577595delC	ENST00000269305.4	-	7	875	c.686delG	c.(685-687)tgtfs	p.C229fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C229fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C229fs	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	229	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> G (in a sporadic cancer; somatic mutation).|C -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> Y (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.C229fs*10(14)|p.0?(8)|p.?(5)|p.C229fs*1(4)|p.C229F(3)|p.C229Y(2)|p.C229_H233delCTTIH(2)|p.C136fs*1(1)|p.C229S(1)|p.C136F(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.C136fs*10(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)	GATGGTGGTACAGTCAGAGCC	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)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	46	Deletion - Frameshift(17)|Whole gene deletion(8)|Substitution - Missense(7)|Unknown(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Complex - frameshift(1)	biliary_tract(13)|ovary(9)|breast(4)|bone(4)|oesophagus(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|upper_aerodigestive_tract(1)|stomach(1)|urinary_tract(1)|skin(1)|lung(1)|pancreas(1)|liver(1)											105.0	86.0	92.0					17																	7577595		2203	4300	6503	SO:0001589	frameshift_variant	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.686delG	17.37:g.7577595delC	ENSP00000269305:p.Cys229fs		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	Frame_Shift_Del	DEL	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.C229fs	ENST00000269305.4	37	c.686	CCDS11118.1	17																																																																																			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		0.00	72	0	C	NM_000546		7577595	-1	tier1		no_errors	ENST00000269305	ensembl	human	known	74_37	frame_shift_del	76.52	27	88	DEL	0.864	-
TP53BP1	7158	genome.wustl.edu	37	15	43748741	43748741	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr15:43748741T>G	ENST00000263801.3	-	12	2302	c.2050A>C	c.(2050-2052)Atg>Ctg	p.M684L	TP53BP1_ENST00000382039.3_Missense_Mutation_p.M689L|TP53BP1_ENST00000450115.2_Missense_Mutation_p.M689L|TP53BP1_ENST00000382044.4_Missense_Mutation_p.M689L|TP53BP1_ENST00000605155.1_5'Flank	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	684					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|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)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACACTCTCCATATTTTCTTCT	0.448								Other conserved DNA damage response genes																																									0													102.0	106.0	105.0					15																	43748741		2201	4298	6499	SO:0001583	missense	0			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.2050A>C	15.37:g.43748741T>G	ENSP00000263801:p.Met684Leu		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.M689L	ENST00000263801.3	37	c.2065	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	T	2.951	-0.216823	0.06101	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	4.94	0.906	0.19314	.	0.617223	0.16860	N	0.196566	T	0.27134	0.0665	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.14727	-1.0462	10	0.26408	T	0.33	-1.1578	6.9046	0.24301	0.0:0.0768:0.2823:0.6408	.	689;684;689;689	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	L	684;689;689;689;689	ENSP00000263801:M684L;ENSP00000371475:M689L;ENSP00000371470:M689L;ENSP00000393497:M689L;ENSP00000388028:M689L	ENSP00000263801:M684L	M	-	1	0	TP53BP1	41536033	0.002000	0.14202	0.820000	0.32676	0.311000	0.27955	0.554000	0.23407	0.289000	0.22422	-0.360000	0.07572	ATG	TP53BP1	-	NULL	ENSG00000067369		0.448	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	-	0.00	39	0	T			43748741	-1	tier1	-	no_errors	ENST00000382044	ensembl	human	known	74_37	missense	66.67	10	20	SNP	0.014	G
TSC2	7249	genome.wustl.edu	37	16	2111977	2111977	+	Nonsense_Mutation	SNP	G	G	T	rs137853998|rs137854127		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr16:2111977G>T	ENST00000219476.3	+	12	1855	c.1225G>T	c.(1225-1227)Gaa>Taa	p.E409*	TSC2_ENST00000568454.1_Nonsense_Mutation_p.E420*|TSC2_ENST00000350773.4_Nonsense_Mutation_p.E409*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.E409*|TSC2_ENST00000382538.6_Nonsense_Mutation_p.E360*|TSC2_ENST00000439673.2_Nonsense_Mutation_p.E372*|TSC2_ENST00000353929.4_Nonsense_Mutation_p.E409*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	409					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GAGATACTTTGAACTGGTGGA	0.627			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													103.0	91.0	95.0					16																	2111977		2198	4300	6498	SO:0001587	stop_gained	0	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1225G>T	16.37:g.2111977G>T	ENSP00000219476:p.Glu409*		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin	p.E409*	ENST00000219476.3	37	c.1225	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	.	37	6.482393	0.97603	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	.	.	.	4.95	3.98	0.46160	.	0.236727	0.44483	D	0.000456	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	-19.5246	15.1814	0.72962	0.0:0.1419:0.8581:0.0	.	.	.	.	X	409;409;409;372;360;409	.	ENSP00000219476:E409X	E	+	1	0	TSC2	2051978	1.000000	0.71417	0.567000	0.28434	0.821000	0.46438	5.620000	0.67736	1.054000	0.40438	0.561000	0.74099	GAA	TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold	ENSG00000103197		0.627	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	-	0.00	86	0	G	NM_000548		2111977	+1	tier1	-	no_errors	ENST00000219476	ensembl	human	known	74_37	nonsense	29.63	57	24	SNP	0.995	T
TTN	7273	genome.wustl.edu	37	2	179588638	179588638	+	Silent	SNP	G	G	A			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr2:179588638G>A	ENST00000591111.1	-	71	20621	c.20397C>T	c.(20395-20397)tgC>tgT	p.C6799C	TTN_ENST00000589042.1_Silent_p.C7116C|TTN_ENST00000342992.6_Silent_p.C5872C|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12397	Ig-like 49.				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)			TAGCAGCCACGCATGTGTAAT	0.423																																																	0													118.0	115.0	116.0					2																	179588638		2022	4187	6209	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.20397C>T	2.37:g.179588638G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom	p.C5872	ENST00000591111.1	37	c.17616		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	-	0.00	33	0	G	NM_133378		179588638	-1	tier1	-	no_errors	ENST00000342992	ensembl	human	known	74_37	silent	17.65	28	6	SNP	0.472	A
UBXN1	51035	genome.wustl.edu	37	11	62444034	62444035	+	3'UTR	INS	-	-	C	rs539760813	byFrequency	TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr11:62444034_62444035insC	ENST00000301935.5	-	0	1087_1088				UBXN1_ENST00000529640.1_3'UTR|UBXN1_ENST00000533000.1_Stop_Codon_Ins|UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000294119.2_3'UTR			Q04323	UBXN1_HUMAN	UBX domain protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						GATGAAGGGGTCACAGAGGGAC	0.485																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.*28->G	11.37:g.62444035_62444035dupC			Q9BV93|Q9BVV5	Frame_Shift_Ins	INS	NULL	p.*101fs	ENST00000301935.5	37	c.303_302		11																																																																																			UBXN1	-	NULL	ENSG00000162191		0.485	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	UBXN1	HGNC	protein_coding	OTTHUMT00000395153.1		0.00	83	0	-	NM_015853		62444035	-1	tier1		no_errors	ENST00000533000	ensembl	human	putative	74_37	frame_shift_ins	34.15	54	28	INS	1.000:0.977	C
UNC5D	137970	genome.wustl.edu	37	8	35425616	35425616	+	Splice_Site	SNP	G	G	T			TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr8:35425616G>T	ENST00000404895.2	+	3	651	c.323G>T	c.(322-324)gGt>gTt	p.G108V	UNC5D_ENST00000416672.1_Splice_Site_p.G108V|UNC5D_ENST00000453357.2_Splice_Site_p.G103V|UNC5D_ENST00000420357.1_Splice_Site_p.G108V|UNC5D_ENST00000287272.2_Splice_Site_p.G108V	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	108	Ig-like.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CCACCATCAGGTTTGAAGGTC	0.453																																																	0													162.0	166.0	165.0					8																	35425616		2203	4300	6503	SO:0001630	splice_region_variant	0			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.323-1G>T	8.37:g.35425616G>T			Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.G108V	ENST00000404895.2	37	c.323	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	17.30	3.354395	0.61293	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357	T;T;T;T;T	0.37411	1.2;1.2;1.2;1.2;1.2	5.16	5.16	0.70880	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.91140	3.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76769	-0.2837	9	.	.	.	.	19.0227	0.92921	0.0:0.0:1.0:0.0	.	103;108	Q6UXZ4-2;Q6UXZ4	.;UNC5D_HUMAN	V	108;108;108;108;103	ENSP00000385143:G108V;ENSP00000392739:G108V;ENSP00000287272:G108V;ENSP00000412652:G108V;ENSP00000394303:G103V	.	G	+	2	0	UNC5D	35545158	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	9.775000	0.98995	2.559000	0.86315	0.655000	0.94253	GGT	UNC5D	-	NULL	ENSG00000156687		0.453	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	-	0.00	60	0	G		Missense_Mutation	35425616	+1	tier1	-	no_errors	ENST00000404895	ensembl	human	known	74_37	missense	43.40	30	23	SNP	1.000	T
DDX27	55661	genome.wustl.edu	37	20	47855789	47855789	+	Missense_Mutation	SNP	G	G	T	rs377559919		TCGA-LN-A5U5-01A-21D-A28B-09	TCGA-LN-A5U5-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	83e92f18-198e-46bc-b4be-f3b867579909	6f06991d-86dd-42a1-8ea0-8d832543ddb8	g.chr20:47855789G>T	ENST00000371764.4	+	16	1913	c.1904G>T	c.(1903-1905)cGg>cTg	p.R635L	ZNFX1_ENST00000469991.1_5'UTR|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1159S|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	635						nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACAGCAAAGCGGCTCCTGGAG	0.532																																																	0													42.0	43.0	43.0					20																	47855789		2203	4300	6503	SO:0001583	missense	0			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.1904G>T	20.37:g.47855789G>T	ENSP00000360828:p.Arg635Leu		A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold	p.R1159S	ENST00000371764.4	37	c.3475	CCDS13416.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.61|15.61	2.884966|2.884966	0.51908|0.51908	.|.	.|.	ENSG00000124228|ENSG00000124201	ENST00000371764|ENST00000371754	T|D	0.01474|0.89617	4.85|-2.54	5.51|5.51	2.48|2.48	0.30137|0.30137	.|.	0.203047|0.203047	0.40640|0.40640	N|N	0.001046|0.001046	D|D	0.84257|0.84257	0.5432|0.5432	L|L	0.43923|0.43923	1.385|1.385	0.54753|0.54753	D|D	0.999987|0.999987	B|.	0.27450|.	0.179|.	B|.	0.30401|.	0.115|.	T|T	0.76094|0.76094	-0.3085|-0.3085	10|8	0.35671|0.26408	T|T	0.21|0.33	-11.711|-11.711	4.6084|4.6084	0.12389|0.12389	0.2514:0.0:0.5964:0.1522|0.2514:0.0:0.5964:0.1522	.|.	635|.	Q96GQ7|.	DDX27_HUMAN|.	L|S	635|1159	ENSP00000360828:R635L|ENSP00000360819:R1159S	ENSP00000360828:R635L|ENSP00000360819:R1159S	R|R	+|-	2|1	0|0	DDX27|ZNFX1	47289196|47289196	0.976000|0.976000	0.34144|0.34144	0.990000|0.990000	0.47175|0.47175	0.988000|0.988000	0.76386|0.76386	1.610000|1.610000	0.36869|0.36869	0.688000|0.688000	0.31529|0.31529	0.655000|0.655000	0.94253|0.94253	CGG|CGC	ZNFX1	-	NULL	ENSG00000124201		0.532	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000080485.1		0.00	46	0	G			47855789	-1			no_errors	ENST00000371754	ensembl	human	known	74_37	missense	5.00	57	3	SNP	0.895	T
