#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_deletion_substructures	i_domain	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_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
MIR412	574433	genome.wustl.edu	37	14	101531999	101531999	+	RNA	SNP	T	T	C			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr14:101531999T>C	ENST00000362142.2	+	0	91				MIR410_ENST00000362222.2_RNA|MIR409_ENST00000362237.1_RNA|MIR369_ENST00000362155.3_RNA|MIR541_ENST00000401360.1_RNA|MIR656_ENST00000385224.1_RNA	NR_030155.1				microRNA 412																		GTTGATCTTTTCTCAGTATCA	0.512																																																	0								ENSG00000199025						124.0	112.0	116.0					14																	101531999		1568	3582	5150	MIR369			0			-	HGNC			14q32.31	2011-09-12		2008-12-18	ENSG00000199012	ENSG00000199012		"""ncRNAs / Micro RNAs"""	32064	non-coding RNA	RNA, micro				MIRN412			Standard	NR_030155		Approved	hsa-mir-412	uc021sds.1				14.37:g.101531999T>C		Somatic	0	34	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000362142.2	37	NULL		14																																																																																			-	-		0.512	MIR412-201	KNOWN	basic	miRNA	MIR369	miRNA		T	NR_030155	-		101531999	+1	no_errors	ENST00000362155	ensembl	human	known	74_37	rna	SNP	1.000	C
CSNK1D	1453	genome.wustl.edu	37	17	80208020	80208020	+	Intron	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr17:80208020G>A	ENST00000314028.6	-	7	1235				CSNK1D_ENST00000398519.5_Intron|CSNK1D_ENST00000392334.2_Intron|CSNK1D_ENST00000578904.1_5'UTR	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta						circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			AGATGCACGGGGGTGGGGAGG	0.612																																																	0								ENSG00000141551																																			CSNK1D	SO:0001627	intron_variant	0			-	HGNC		CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.886-542C>T	17.37:g.80208020G>A		Somatic	0	63	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	A2I2P2|Q96KZ6|Q9BTN5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000314028.6	37	NULL	CCDS11805.1	17																																																																																			-	-		0.612	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSNK1D	protein_coding	OTTHUMT00000442632.1	G	NM_139062	-		80208020	-1	no_errors	ENST00000578904	ensembl	human	known	74_37	rna	SNP	0.000	A
RPH3A	22895	genome.wustl.edu	37	12	113327846	113327846	+	Silent	SNP	C	C	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:113327846C>A	ENST00000389385.4	+	18	2078	c.1581C>A	c.(1579-1581)acC>acA	p.T527T	RPH3A_ENST00000447659.2_Silent_p.T478T|RPH3A_ENST00000415485.3_Silent_p.T527T|RPH3A_ENST00000548866.1_Silent_p.T478T|RPH3A_ENST00000543106.2_Silent_p.T527T|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Silent_p.T527T|RPH3A_ENST00000551052.1_Silent_p.T523T	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	527					intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GTGCTGGGACCACCGGGTCAG	0.493																																																	0								ENSG00000089169						185.0	189.0	188.0					12																	113327846		2203	4300	6503	RPH3A	SO:0001819	synonymous_variant	0			-	HGNC	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1581C>A	12.37:g.113327846C>A		Somatic	0	40	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	47	34.72	B7Z3C3|Q96AE0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.T527	ENST00000389385.4	37	c.1581	CCDS44979.1	12																																																																																			-	NULL		0.493	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	protein_coding	OTTHUMT00000405561.1	C	NM_014954	-		113327846	+1	no_errors	ENST00000389385	ensembl	human	known	74_37	silent	SNP	0.998	A
PCDHA7	56141	genome.wustl.edu	37	5	140215733	140215733	+	Missense_Mutation	SNP	C	C	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr5:140215733C>A	ENST00000525929.1	+	1	1765	c.1765C>A	c.(1765-1767)Cat>Aat	p.H589N	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.H589N	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	589	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGGGCCATGTGGTGGC	0.662																																					NSCLC(160;258 2013 5070 22440 28951)												0								ENSG00000204963						120.0	115.0	117.0					5																	140215733		2203	4300	6503	PCDHA7	SO:0001583	missense	0			-	HGNC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1765C>A	5.37:g.140215733C>A	ENSP00000436426:p.His589Asn	Somatic	0	97	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	116	20.55	O75282	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.H589N	ENST00000525929.1	37	c.1765	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	6.362	0.434939	0.12045	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.50813	0.73;0.73	3.67	3.67	0.42095	Cadherin (3);Cadherin-like (1);	0.000000	0.33382	U	0.004976	T	0.58293	0.2112	M	0.88105	2.93	0.22330	N	0.999199	B;B	0.25563	0.106;0.129	B;B	0.35971	0.215;0.089	T	0.59386	-0.7464	10	0.66056	D	0.02	.	11.6628	0.51356	0.0:0.9087:0.0:0.0913	.	589;589	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	N	589	ENSP00000436426:H589N;ENSP00000367365:H589N	ENSP00000367365:H589N	H	+	1	0	PCDHA7	140195917	0.001000	0.12720	1.000000	0.80357	0.062000	0.15995	-0.056000	0.11787	2.028000	0.59812	0.462000	0.41574	CAT	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.662	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	C	NM_018910	-		140215733	+1	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	SNP	0.994	A
TOMM7	54543	genome.wustl.edu	37	7	22852686	22852686	+	3'UTR	SNP	C	C	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr7:22852686C>A	ENST00000358435.4	-	0	342				TOMM7_ENST00000463284.1_5'UTR|TOMM7_ENST00000372879.4_3'UTR|TOMM7_ENST00000405021.3_3'UTR	NM_019059.2	NP_061932.1	Q9P0U1	TOM7_HUMAN	translocase of outer mitochondrial membrane 7 homolog (yeast)						cellular protein metabolic process (GO:0044267)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			skin(1)	1						CTTGTGCCATCCAACTAGTGA	0.423																																																	0								ENSG00000196683																																			TOMM7	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF150733	CCDS5376.1	7p15.3	2003-07-21			ENSG00000196683	ENSG00000196683			21648	protein-coding gene	gene with protein product		607980				10647823, 12198123	Standard	NM_019059		Approved		uc003svk.4	Q9P0U1	OTTHUMG00000094805	ENST00000358435.4:c.*103G>T	7.37:g.22852686C>A		Somatic	0	25	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	O95939	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000358435.4	37	NULL	CCDS5376.1	7																																																																																			-	-		0.423	TOMM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM7	protein_coding	OTTHUMT00000211623.1	C	NM_019059	-		22852686	-1	no_errors	ENST00000463284	ensembl	human	putative	74_37	rna	SNP	0.465	A
RAB18	22931	genome.wustl.edu	37	10	27821508	27821508	+	Splice_Site	SNP	G	G	C			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr10:27821508G>C	ENST00000356940.6	+	4	361	c.259G>C	c.(259-261)Gtt>Ctt	p.V87L	RAB18_ENST00000375802.3_Intron|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000535776.1_Intron	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	87					brain development (GO:0007420)|endoplasmic reticulum tubular network organization (GO:0071786)|eye development (GO:0001654)|GTP catabolic process (GO:0006184)|lipid particle organization (GO:0034389)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(1)|lung(1)	3						TGTTATATTAGGTAAGTGTTT	0.299																																																	0								ENSG00000099246						92.0	99.0	96.0					10																	27821508		2203	4298	6501	RAB18	SO:0001630	splice_region_variant	0			-	HGNC	AJ277145	CCDS7155.1, CCDS58073.1, CCDS73080.1, CCDS73081.1	10p12	2011-03-07			ENSG00000099246	ENSG00000099246		"""RAB, member RAS oncogene"""	14244	protein-coding gene	gene with protein product		602207				10648831	Standard	NM_021252		Approved		uc001itw.4	Q9NP72	OTTHUMG00000017861	ENST00000356940.6:c.259+1G>C	10.37:g.27821508G>C		Somatic	0	39	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	50	27.54	B3KMC7|B7Z333|D3DRW1|Q53FX8|Q56UN9|Q6FIH1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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_ARF,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.V87L	ENST00000356940.6	37	c.259	CCDS7155.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.540234|4.540234	0.85917|0.85917	.|.	.|.	ENSG00000099246|ENSG00000099246	ENST00000423465|ENST00000356940;ENST00000540268	.|T	.|0.74209	.|-0.82	5.29|5.29	5.29|5.29	0.74685|0.74685	.|Small GTP-binding protein domain (1);	.|.	.|.	.|.	.|.	D|D	0.85656|0.85656	0.5747|0.5747	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	.|D;D;P	.|0.76494	.|0.967;0.999;0.835	.|P;D;P	.|0.67382	.|0.792;0.951;0.543	D|D	0.87375|0.87375	0.2353|0.2353	5|9	.|0.87932	.|D	.|0	.|.	17.9282|17.9282	0.88990|0.88990	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|87;116;87	.|B7Z4P9;Q56UN9;Q9NP72	.|.;.;RAB18_HUMAN	T|L	199|87;65	.|ENSP00000349415:V87L	.|ENSP00000349415:V87L	S|V	+|+	2|1	0|0	RAB18|RAB18	27861514|27861514	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	7.241000|7.241000	0.78201|0.78201	2.464000|2.464000	0.83262|0.83262	0.561000|0.561000	0.74099|0.74099	AGT|GTT	-	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_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.299	RAB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB18	protein_coding	OTTHUMT00000047326.2	G	NM_021252	-	Missense_Mutation	27821508	+1	no_errors	ENST00000356940	ensembl	human	known	74_37	missense	SNP	1.000	C
OR4D11	219986	genome.wustl.edu	37	11	59271507	59271507	+	Missense_Mutation	SNP	T	T	G			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:59271507T>G	ENST00000313253.1	+	1	459	c.459T>G	c.(457-459)ttT>ttG	p.F153L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGGGCTTTGTCCACTCCA	0.542																																																	0								ENSG00000176200						207.0	177.0	188.0					11																	59271507		2201	4295	6496	OR4D11	SO:0001583	missense	0			-	HGNC	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.459T>G	11.37:g.59271507T>G	ENSP00000320077:p.Phe153Leu	Somatic	0	71	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	104	9.57		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F153L	ENST00000313253.1	37	c.459	CCDS31563.1	11	.	.	.	.	.	.	.	.	.	.	t	13.09	2.133792	0.37630	.	.	ENSG00000176200	ENST00000313253	T	0.00039	8.85	5.29	-0.292	0.12839	GPCR, rhodopsin-like superfamily (1);	0.126578	0.36034	N	0.002827	T	0.00144	0.0004	L	0.56199	1.76	0.24342	N	0.994951	B	0.17038	0.02	B	0.26310	0.068	T	0.33954	-0.9848	10	0.41790	T	0.15	-31.7199	5.6063	0.17381	0.1276:0.3417:0.0:0.5307	.	153	Q8NGI4	OR4DB_HUMAN	L	153	ENSP00000320077:F153L	ENSP00000320077:F153L	F	+	3	2	OR4D11	59028083	0.000000	0.05858	0.972000	0.41901	0.930000	0.56654	-0.655000	0.05348	0.022000	0.15160	0.455000	0.32223	TTT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	protein_coding	OTTHUMT00000394236.1	T	NM_001004706	-		59271507	+1	no_errors	ENST00000313253	ensembl	human	known	74_37	missense	SNP	0.026	G
SHROOM4	57477	genome.wustl.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ|SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0								ENSG00000158352			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0.0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic	NA	NA	NA		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1129in_frame_insQQQQ	ENST00000289292.7	37	c.3384_3383	CCDS35277.1	X																																																																																			-	NULL		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350759	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGCTGCTGCTGT
MRGPRX3	117195	genome.wustl.edu	37	11	18159293	18159293	+	Missense_Mutation	SNP	G	G	A	rs572680080		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:18159293G>A	ENST00000396275.2	+	3	905	c.544G>A	c.(544-546)Gcg>Acg	p.A182T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	182						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CATTACAATCGCGTGGCTGGT	0.512																																																	0								ENSG00000179826						168.0	153.0	158.0					11																	18159293		2200	4293	6493	MRGPRX3	SO:0001583	missense	0			-	HGNC		CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.544G>A	11.37:g.18159293G>A	ENSP00000379571:p.Ala182Thr	Somatic	0	111	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	228	8.80	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.A182T	ENST00000396275.2	37	c.544	CCDS7830.1	11	.	.	.	.	.	.	.	.	.	.	G	5.922	0.354213	0.11182	.	.	ENSG00000179826	ENST00000396275;ENST00000531264	T;T	0.36878	1.23;1.23	1.46	-2.93	0.05598	GPCR, rhodopsin-like superfamily (1);	1.222750	0.05716	N	0.596906	T	0.26085	0.0636	N	0.25286	0.73	0.09310	N	1	P	0.43578	0.811	P	0.46208	0.507	T	0.07290	-1.0780	10	0.35671	T	0.21	.	2.8749	0.05628	0.4872:0.0:0.3054:0.2074	.	182	Q96LB0	MRGX3_HUMAN	T	182	ENSP00000379571:A182T;ENSP00000436242:A182T	ENSP00000379571:A182T	A	+	1	0	MRGPRX3	18115869	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.191000	0.03055	-1.646000	0.01513	-1.179000	0.01719	GCG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX3	protein_coding	OTTHUMT00000389767.1	G	NM_054031	-		18159293	+1	no_errors	ENST00000396275	ensembl	human	known	74_37	missense	SNP	0.000	A
RBM3	5935	genome.wustl.edu	37	X	48434970	48434970	+	Missense_Mutation	SNP	C	C	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:48434970C>T	ENST00000376759.3	+	5	454	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	RBM3_ENST00000376755.1_Missense_Mutation_p.R131C|RBM3_ENST00000430348.2_Silent_p.D103D|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000354480.2_Silent_p.D103D|RBM3_ENST00000466764.1_3'UTR	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	131	Gly-rich.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TGGATATGGACGTTCCAGAGA	0.498																																																	0								ENSG00000102317						81.0	71.0	74.0					X																	48434970		2197	4287	6484	RBM3	SO:0001583	missense	0			-	HGNC	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.391C>T	X.37:g.48434970C>T	ENSP00000365950:p.Arg131Cys	Somatic	0	25	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R131C	ENST00000376759.3	37	c.391	CCDS14301.1	X	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649844	0.47362	.	.	ENSG00000102317	ENST00000376759;ENST00000376755	T;T	0.20881	2.04;2.04	5.18	0.535	0.17133	.	0.380247	0.18768	U	0.131687	T	0.07954	0.0199	N	0.08118	0	0.58432	D	0.99999	B	0.09022	0.002	B	0.01281	0.0	T	0.21518	-1.0243	10	0.51188	T	0.08	-0.3646	1.1465	0.01776	0.4289:0.2301:0.2111:0.1299	.	131	P98179	RBM3_HUMAN	C	131	ENSP00000365950:R131C;ENSP00000365946:R131C	ENSP00000365946:R131C	R	+	1	0	RBM3	48319914	0.848000	0.29623	0.975000	0.42487	0.983000	0.72400	1.459000	0.35234	0.332000	0.23536	0.600000	0.82982	CGT	-	NULL		0.498	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM3	protein_coding	OTTHUMT00000060755.1	C	NM_006743	-		48434970	+1	no_errors	ENST00000376755	ensembl	human	known	74_37	missense	SNP	0.600	T
NOTCH3	4854	genome.wustl.edu	37	19	15276877	15276877	+	Silent	SNP	A	A	G			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr19:15276877A>G	ENST00000263388.2	-	30	5463	c.5388T>C	c.(5386-5388)gcT>gcC	p.A1796A		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1796					forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGAAGGAAGCCAGCATTA	0.557																																																	0								ENSG00000074181						54.0	54.0	54.0					19																	15276877		2203	4300	6503	NOTCH3	SO:0001819	synonymous_variant	0			-	HGNC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.5388T>C	19.37:g.15276877A>G		Somatic	0	36	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	69	12.66	Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.A1796	ENST00000263388.2	37	c.5388	CCDS12326.1	19																																																																																			-	pirsf_Notch,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.557	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	protein_coding	OTTHUMT00000465714.1	A	NM_000435	-		15276877	-1	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	SNP	0.976	G
PLEKHG6	55200	genome.wustl.edu	37	12	6437043	6437043	+	Missense_Mutation	SNP	T	T	G			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:6437043T>G	ENST00000396988.3	+	15	2524	c.2294T>G	c.(2293-2295)cTg>cGg	p.L765R	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L765R|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.L295R|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.L733R	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	765						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						CCACGGAAGCTGACTCGGGCC	0.662																																																	0								ENSG00000008323						8.0	11.0	10.0					12																	6437043		2192	4284	6476	PLEKHG6	SO:0001583	missense	0			-	HGNC	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.2294T>G	12.37:g.6437043T>G	ENSP00000380185:p.Leu765Arg	Somatic	0	21	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	30	31.82	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L765R	ENST00000396988.3	37	c.2294	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	T	17.03	3.283680	0.59867	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.74315	-0.72;-0.72;-0.83	4.74	4.74	0.60224	.	0.000000	0.43919	D	0.000504	T	0.78246	0.4253	L	0.34521	1.04	0.44129	D	0.99691	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.997	T	0.80086	-0.1529	10	0.87932	D	0	-15.4297	10.6083	0.45406	0.0:0.0:0.0:1.0	.	733;765	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	R	765;765;733;295	ENSP00000011684:L765R;ENSP00000380185:L765R;ENSP00000393194:L733R	ENSP00000011684:L765R	L	+	2	0	PLEKHG6	6307304	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	4.540000	0.60664	2.004000	0.58718	0.454000	0.30748	CTG	-	NULL		0.662	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	protein_coding	OTTHUMT00000399031.1	T	NM_018173	-		6437043	+1	no_errors	ENST00000011684	ensembl	human	known	74_37	missense	SNP	1.000	G
ATP1A3	478	genome.wustl.edu	37	19	42490069	42490069	+	Missense_Mutation	SNP	C	C	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr19:42490069C>A	ENST00000302102.5	-	6	703	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	ATP1A3_ENST00000543770.1_Missense_Mutation_p.G196C|ATP1A3_ENST00000545399.1_Missense_Mutation_p.G198C|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Missense_Mutation_p.G155C	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	185					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CGGTCTCCACCCTTGATCTCC	0.642																																																	0								ENSG00000105409						167.0	146.0	153.0					19																	42490069		2203	4300	6503	ATP1A3	SO:0001583	missense	0			-	HGNC		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.553G>T	19.37:g.42490069C>A	ENSP00000302397:p.Gly185Cys	Somatic	0	65	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	53	38.37	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.G185C	ENST00000302102.5	37	c.553	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	C	16.99	3.273289	0.59649	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000543770	D;D;D;D	0.90563	-2.69;-2.69;-2.69;-2.69	3.75	3.75	0.43078	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.73372	2.23	0.80722	D	1	P;D;D;D	0.89917	0.585;1.0;1.0;1.0	P;D;D;D	0.97110	0.485;0.995;1.0;0.997	D	0.94334	0.7564	10	0.56958	D	0.05	.	13.4267	0.61030	0.0:1.0:0.0:0.0	.	198;196;185;185	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	C	185;185;198;155;196	ENSP00000302397:G185C;ENSP00000411503:G185C;ENSP00000444688:G198C;ENSP00000437577:G196C	ENSP00000302397:G185C	G	-	1	0	ATP1A3	47181909	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	5.965000	0.70387	1.833000	0.53350	0.313000	0.20887	GGT	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase		0.642	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	protein_coding	OTTHUMT00000268107.1	C	NM_152296	-		42490069	-1	no_errors	ENST00000302102	ensembl	human	known	74_37	missense	SNP	1.000	A
OR4D11	219986	genome.wustl.edu	37	11	59271504	59271504	+	Silent	SNP	C	C	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:59271504C>A	ENST00000313253.1	+	1	456	c.456C>A	c.(454-456)ggC>ggA	p.G152G		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						GGATGGGGGGCTTTGTCCACT	0.547																																																	0								ENSG00000176200						208.0	178.0	188.0					11																	59271504		2201	4295	6496	OR4D11	SO:0001819	synonymous_variant	0			-	HGNC	AB065810	CCDS31563.1	11q12.1	2012-08-09		2004-03-10	ENSG00000176200	ENSG00000176200		"""GPCR / Class A : Olfactory receptors"""	15174	protein-coding gene	gene with protein product				OR4D11P			Standard	NM_001004706		Approved		uc001noa.1	Q8NGI4	OTTHUMG00000167342	ENST00000313253.1:c.456C>A	11.37:g.59271504C>A		Somatic	0	71	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	105	8.62		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G152	ENST00000313253.1	37	c.456	CCDS31563.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.547	OR4D11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D11	protein_coding	OTTHUMT00000394236.1	C	NM_001004706	-		59271504	+1	no_errors	ENST00000313253	ensembl	human	known	74_37	silent	SNP	0.993	A
KSR2	283455	genome.wustl.edu	37	12	118199247	118199247	+	Silent	SNP	C	C	T	rs373628463		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:118199247C>T	ENST00000339824.5	-	4	1282	c.555G>A	c.(553-555)ccG>ccA	p.P185P	KSR2_ENST00000425217.1_Silent_p.P156P			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	185	Pro-rich.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGTGGGCTCCGGGGGGCACA	0.632																																																	0								ENSG00000171435	C		0,3844		0,0,1922	48.0	50.0	49.0		468	-1.0	1.0	12		49	1,8233		0,1,4116	no	coding-synonymous	KSR2	NM_173598.4		0,1,6038	TT,TC,CC		0.0121,0.0,0.0083		156/922	118199247	1,12077	1922	4117	6039	KSR2	SO:0001819	synonymous_variant	0			-	HGNC	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.555G>A	12.37:g.118199247C>T		Somatic	0	70	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	49	84	36.84	A0PJT2|Q3B828|Q8N775	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.P185	ENST00000339824.5	37	c.555		12																																																																																			-	NULL		0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	C	NM_173598	-		118199247	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	silent	SNP	0.748	T
ATRX	546	genome.wustl.edu	37	X	76909659	76909659	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:76909659G>A	ENST00000373344.5	-	14	4460	c.4246C>T	c.(4246-4248)Cag>Tag	p.Q1416*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1378*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1416					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAGCTCCGCTGATTTTCTTCC	0.318			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						193.0	162.0	172.0					X																	76909659		2203	4295	6498	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4246C>T	X.37:g.76909659G>A	ENSP00000362441:p.Gln1416*	Somatic	0	19	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	13	58.06	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q1416*	ENST00000373344.5	37	c.4246	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	g	46	12.366761	0.99661	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.41	5.41	0.78517	.	0.076051	0.53938	U	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-1.7207	18.0982	0.89497	0.0:0.0:1.0:0.0	.	.	.	.	X	1416;1378;1343	.	ENSP00000362441:Q1416X	Q	-	1	0	ATRX	76796315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.328000	0.79160	2.396000	0.81511	0.502000	0.49764	CAG	-	NULL		0.318	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76909659	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	1.000	A
MED9	55090	genome.wustl.edu	37	17	17380342	17380342	+	5'UTR	SNP	C	C	G			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr17:17380342C>G	ENST00000268711.3	+	0	43				MED9_ENST00000580462.1_5'UTR|MED9_ENST00000585041.1_3'UTR	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCTGGCTAACCTACCCCCGGA	0.697																																																	0								ENSG00000141026						22.0	23.0	23.0					17																	17380342		2128	4186	6314	MED9	SO:0001623	5_prime_UTR_variant	0			-	HGNC	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.-14C>G	17.37:g.17380342C>G		Somatic	0	40	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	58	13.43		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000268711.3	37	NULL	CCDS11184.1	17																																																																																			-	-		0.697	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED9	protein_coding	OTTHUMT00000131669.2	C	NM_018019	-		17380342	+1	no_errors	ENST00000585041	ensembl	human	known	74_37	rna	SNP	0.000	G
LOC101930452	101930452	genome.wustl.edu	37	12	9548908	9548908	+	lincRNA	SNP	G	G	C	rs78201839		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:9548908G>C	ENST00000567749.1	+	0	3083																											GACCTGCAAAGCCAGGCAGAA	0.542																																																	0								ENSG00000260423																																			RP13-735L24.1			0			-	Clone_based_vega_gene																													12.37:g.9548908G>C		Somatic	0	9	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000567749.1	37	NULL		12																																																																																			-	-		0.542	RP13-735L24.1-001	KNOWN	basic	lincRNA	LOC101930452	lincRNA	OTTHUMT00000421339.1	G		rs78201839		9548908	+1	no_errors	ENST00000567749	ensembl	human	known	74_37	rna	SNP	0.039	C
KALRN	8997	genome.wustl.edu	37	3	124436186	124436186	+	Missense_Mutation	SNP	C	C	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr3:124436186C>A	ENST00000291478.5	+	26	3441	c.3278C>A	c.(3277-3279)gCt>gAt	p.A1093D	KALRN_ENST00000360013.3_Missense_Mutation_p.A2790D|KALRN_ENST00000428018.2_Missense_Mutation_p.A1061D	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2789					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCATGGAGGCTCTGCAGTAC	0.478																																																	0								ENSG00000160145						97.0	92.0	94.0					3																	124436186		2203	4300	6503	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3278C>A	3.37:g.124436186C>A	ENSP00000291478:p.Ala1093Asp	Somatic	0	18	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A2790D	ENST00000291478.5	37	c.8369	CCDS3028.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.958848|4.958848	0.92726|0.92726	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018|ENST00000354186	T;T;T|.	0.58210|.	0.35;0.35;0.35|.	5.1|5.1	5.1|5.1	0.69264|0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88433|0.88433	0.6435|0.6435	H|H	0.96691|0.96691	3.865|3.865	0.50467|0.50467	D|D	0.999877|0.999877	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.87578|.	0.998;0.998|.	D|D	0.92160|0.92160	0.5735|0.5735	10|5	0.87932|.	D|.	0|.	.|.	18.7194|18.7194	0.91687|0.91687	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1093;2789|.	C9JQ37;O60229|.	.;KALRN_HUMAN|.	D|I	2790;1093;1061|2759	ENSP00000353109:A2790D;ENSP00000291478:A1093D;ENSP00000402419:A1061D|.	ENSP00000291478:A1093D|.	A|L	+|+	2|1	0|0	KALRN|KALRN	125918876|125918876	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.993000|0.993000	0.82548|0.82548	7.647000|7.647000	0.83462|0.83462	2.644000|2.644000	0.89710|0.89710	0.655000|0.655000	0.94253|0.94253	GCT|CTC	-	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		0.478	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	protein_coding	OTTHUMT00000246891.5	C	NM_003947	-		124436186	+1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	A
KCNG1	3755	genome.wustl.edu	37	20	49626065	49626065	+	Intron	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr20:49626065G>A	ENST00000371571.4	-	2	1060				RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000506387.1_5'Flank|KCNG1_ENST00000396017.3_Nonsense_Mutation_p.R271*	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1						potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCCTTCCCTCGTGGTGGCGCG	0.617																																																	0								ENSG00000026559						39.0	37.0	37.0					20																	49626065		2194	4288	6482	KCNG1	SO:0001627	intron_variant	0			-	HGNC	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.774+36C>T	20.37:g.49626065G>A		Somatic	0	41	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	60	18.92	A8K3S4|O43528|Q5JXL5|Q9BRC1	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl,prints_K_chnl_volt-dep_Kv3	p.R271*	ENST00000371571.4	37	c.811	CCDS13436.1	20	.	.	.	.	.	.	.	.	.	.	G	29.8	5.033978	0.93575	.	.	ENSG00000026559	ENST00000396017	.	.	.	3.56	-2.06	0.07298	.	.	.	.	.	.	.	.	.	.	.	0.23550	N	0.997436	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2631	0.10750	0.3374:0.2738:0.3888:0.0	.	.	.	.	X	271	.	.	R	-	1	2	KCNG1	49059472	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.129000	0.10515	-0.252000	0.09528	-0.458000	0.05436	CGA	-	NULL		0.617	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNG1	protein_coding	OTTHUMT00000079726.4	G	NM_002237	-		49626065	-1	no_errors	ENST00000396017	ensembl	human	known	74_37	nonsense	SNP	0.000	A
PIM2	11040	genome.wustl.edu	37	X	48772492	48772492	+	Missense_Mutation	SNP	G	G	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:48772492G>T	ENST00000376509.4	-	4	589	c.400C>A	c.(400-402)Cca>Aca	p.P134T	PIM2_ENST00000485431.1_5'Flank	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	Pim-2 proto-oncogene, serine/threonine kinase	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic mitochondrial changes (GO:0008637)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|response to virus (GO:0009615)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			lung(3)|stomach(1)	4						TCACCCAGTGGGCCCTTCTCT	0.577																																																	0								ENSG00000102096						49.0	43.0	45.0					X																	48772492		2203	4300	6503	PIM2	SO:0001583	missense	0			-	HGNC	U77735	CCDS14312.1	Xp11.23	2014-06-25	2014-06-25		ENSG00000102096	ENSG00000102096			8987	protein-coding gene	gene with protein product		300295	"""pim-2 oncogene"""			9804974	Standard	NM_006875		Approved		uc004dls.3	Q9P1W9	OTTHUMG00000024132	ENST00000376509.4:c.400C>A	X.37:g.48772492G>T	ENSP00000365692:p.Pro134Thr	Somatic	0	48	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	63	26.74	A8K4G6|Q99739	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P134T	ENST00000376509.4	37	c.400	CCDS14312.1	X	.	.	.	.	.	.	.	.	.	.	G	11.37	1.618177	0.28801	.	.	ENSG00000102096	ENST00000376509;ENST00000442430	T;T	0.64991	-0.13;-0.13	5.88	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.070670	0.56097	D	0.000032	T	0.42698	0.1214	N	0.21617	0.685	0.41263	D	0.986796	B	0.20887	0.049	B	0.21546	0.035	T	0.31223	-0.9951	10	0.12103	T	0.63	.	8.2801	0.31896	0.0:0.2763:0.5682:0.1556	.	134	Q9P1W9	PIM2_HUMAN	T	134;22	ENSP00000365692:P134T;ENSP00000410960:P22T	ENSP00000365692:P134T	P	-	1	0	PIM2	48657436	0.986000	0.35501	0.465000	0.27155	0.972000	0.66771	2.442000	0.44873	2.474000	0.83562	0.600000	0.82982	CCA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.577	PIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIM2	protein_coding	OTTHUMT00000060805.1	G		-		48772492	-1	no_errors	ENST00000376509	ensembl	human	known	74_37	missense	SNP	0.943	T
PHC2	1912	genome.wustl.edu	37	1	33820033	33820033	+	Silent	SNP	C	C	G	rs16835408	byFrequency	TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr1:33820033C>G	ENST00000257118.5	-	8	1577	c.1524G>C	c.(1522-1524)acG>acC	p.T508T	RP11-415J8.5_ENST00000432703.1_RNA|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.T479T|PHC2_ENST00000373422.3_Silent_p.T114T|PHC2_ENST00000419414.2_Silent_p.T509T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	508					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGTTAGGGCTCGTGGGTACAG	0.612																																																	0								ENSG00000134686						102.0	91.0	95.0					1																	33820033		2203	4300	6503	PHC2	SO:0001819	synonymous_variant	0			-	HGNC	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.1524G>C	1.37:g.33820033C>G		Somatic	0	68	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	66	13.16	A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.T509	ENST00000257118.5	37	c.1527	CCDS378.1	1																																																																																			-	NULL		0.612	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHC2	protein_coding	OTTHUMT00000011895.1	C	NM_198040	-		33820033	-1	no_errors	ENST00000419414	ensembl	human	known	74_37	silent	SNP	1.000	G
GPR19	2842	genome.wustl.edu	37	12	12815077	12815077	+	Nonsense_Mutation	SNP	G	G	C			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:12815077G>C	ENST00000540510.1	-	2	498	c.306C>G	c.(304-306)taC>taG	p.Y102*	GPR19_ENST00000332427.2_Nonsense_Mutation_p.Y102*			P46093	GPR4_HUMAN	G protein-coupled receptor 19	54					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AGACCACAAAGTAGTTGGTGG	0.512																																																	0								ENSG00000183150						136.0	123.0	128.0					12																	12815077		2203	4300	6503	GPR19	SO:0001587	stop_gained	0			-	HGNC		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.306C>G	12.37:g.12815077G>C	ENSP00000441832:p.Tyr102*	Somatic	0	27	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	43	18.87	A8K3T3|B0M0K1|Q6NWM4	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.Y102*	ENST00000540510.1	37	c.306	CCDS8652.1	12	.	.	.	.	.	.	.	.	.	.	G	28.9	4.963116	0.92791	.	.	ENSG00000183150	ENST00000540510;ENST00000332427	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2243	13.0597	0.59000	0.0775:0.0:0.9225:0.0	.	.	.	.	X	102	.	ENSP00000333744:Y102X	Y	-	3	2	GPR19	12706344	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	2.622000	0.46427	2.744000	0.94065	0.655000	0.94253	TAC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.512	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR19	protein_coding	OTTHUMT00000400662.1	G	NM_006143	-		12815077	-1	no_errors	ENST00000332427	ensembl	human	known	74_37	nonsense	SNP	1.000	C
TUBB2A	7280	genome.wustl.edu	37	6	3155012	3155012	+	Silent	SNP	G	G	A	rs555332069		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr6:3155012G>A	ENST00000333628.3	-	4	485	c.423C>T	c.(421-423)ggC>ggT	p.G141G	RP1-40E16.11_ENST00000447644.1_RNA|TUBB2A_ENST00000489942.1_5'UTR	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	141					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACCCCGTGCCGCCCCCCAGAG	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		18415	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000137267						11.0	11.0	11.0					6																	3155012		2156	4169	6325	TUBB2A	SO:0001819	synonymous_variant	0			-	HGNC	AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.423C>T	6.37:g.3155012G>A		Somatic	0	32	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	60	10.45	Q6FGZ8|Q8IWR2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.G141	ENST00000333628.3	37	c.423	CCDS4484.1	6																																																																																			-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Epsilon_tubulin		0.627	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	protein_coding	OTTHUMT00000039662.1	G	NM_001069	-		3155012	-1	no_errors	ENST00000333628	ensembl	human	known	74_37	silent	SNP	0.001	A
TMEM191C	645426	genome.wustl.edu	37	22	21822373	21822385	+	lincRNA	DEL	AGGATCCGGGGGT	AGGATCCGGGGGT	-	rs3016118		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	AGGATCCGGGGGT	AGGATCCGGGGGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr22:21822373_21822385delAGGATCCGGGGGT	ENST00000449424.1	+	0	415_427							A6NGB0	T191C_HUMAN	transmembrane protein 191C							integral component of membrane (GO:0016021)											ggaagggggcaggatccgggggtggggtgaggt	0.704																																																	0								ENSG00000206140																																			TMEM191C			0				HGNC			22q11.21	2013-04-03			ENSG00000206140	ENSG00000206140			33601	other	unknown							Standard	NM_001207052		Approved		uc021wmg.1	A6NGB0	OTTHUMG00000150780		22.37:g.21822373_21822385delAGGATCCGGGGGT		Somatic	NA	NA	NA		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000449424.1	37	NULL		22																																																																																			-	-		0.704	TMEM191C-004	KNOWN	basic|exp_conf	lincRNA	TMEM191C	lincRNA	OTTHUMT00000320053.1	AGGATCCGGGGGT	NM_001207052			21822385	+1	no_errors	ENST00000449424	ensembl	human	known	74_37	rna	DEL	0.003:0.005:0.001:0.001:0.002:0.003:0.000:0.000:0.000:0.057:0.077:0.000:0.000	-
TTLL13	440307	genome.wustl.edu	37	15	90799414	90799414	+	Missense_Mutation	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr15:90799414G>A	ENST00000339615.5	+	6	880	c.590G>A	c.(589-591)cGc>cAc	p.R197H	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000438251.1_Missense_Mutation_p.R197H	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			CGAAAAGCCCGCACATATATC	0.557																																																	0								ENSG00000213471						97.0	93.0	94.0					15																	90799414		2199	4298	6497	TTLL13	SO:0001583	missense	0			-	HGNC	BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.590G>A	15.37:g.90799414G>A	ENSP00000345294:p.Arg197His	Somatic	0	37	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	42	35.38		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TTL/TTLL_fam	p.R197H	ENST00000339615.5	37	c.590	CCDS32328.1	15	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662705	0.67700	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.08102	3.13;3.13	5.18	3.34	0.38264	.	0.867696	0.09680	N	0.769877	T	0.26376	0.0644	M	0.69523	2.12	0.38004	D	0.934321	D	0.76494	0.999	D	0.65773	0.938	T	0.02098	-1.1214	10	0.72032	D	0.01	.	10.9538	0.47345	0.1505:0.0:0.8495:0.0	.	197	A6NNM8-2	.	H	197	ENSP00000413362:R197H;ENSP00000345294:R197H	ENSP00000345294:R197H	R	+	2	0	TTLL13	88600418	1.000000	0.71417	0.958000	0.39756	0.698000	0.40448	3.052000	0.49893	0.796000	0.33947	-0.215000	0.12644	CGC	-	pfam_TTL/TTLL_fam		0.557	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	protein_coding	OTTHUMT00000435854.1	G	NM_001029964	-		90799414	+1	no_errors	ENST00000438251	ensembl	human	known	74_37	missense	SNP	0.975	A
ADAM6	8755	genome.wustl.edu	37	14	106437037	106437074	+	lincRNA	DEL	CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	-	rs71405043|rs571004730	byFrequency	TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr14:106437037_106437074delCATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	ENST00000452053.1	-	0	586_623					NR_002224.2				ADAM metallopeptidase domain 6, pseudogene																		GAACCGTTGTCATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAACACACCGGCC	0.462														1095	0.21865	0.0734	0.17	5008	,	,		14745	0.4226		0.0964	False		,,,				2504	0.365																0								ENSG00000233988																																			ADAM6			0				HGNC	AI024595		14q32.33	2013-09-05	2012-08-22		ENSG00000233988	ENSG00000271968		"""ADAM metallopeptidase domain containing"""	213	pseudogene	pseudogene			"""chromosome 14 open reading frame 96"", ""a disintegrin and metalloproteinase domain 6"", ""ADAM metallopeptidase domain 6"""	C14orf96			Standard	NR_002224		Approved	tMDCIV	uc001ysu.1		OTTHUMG00000152319		14.37:g.106437037_106437074delCATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA		Somatic	NA	NA	NA		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000452053.1	37	NULL		14																																																																																			-	-		0.462	ADAM6-001	KNOWN	basic	lincRNA	ADAM6	lincRNA	OTTHUMT00000325881.1	CATGGTTTCGTTATACACAGGAGCAAGTGTTTCAAAAA	NR_002224			106437074	-1	no_errors	ENST00000452053	ensembl	human	known	74_37	rna	DEL	0.000:0.000:0.000:0.002:0.002:0.003:0.003:0.001:0.000:0.001:0.002:0.002:0.002:0.002:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.002:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000	-
CNKSR2	22866	genome.wustl.edu	37	X	21627458	21627458	+	Missense_Mutation	SNP	G	G	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:21627458G>T	ENST00000379510.3	+	20	2451	c.2415G>T	c.(2413-2415)agG>agT	p.R805S	CNKSR2_ENST00000279451.4_Missense_Mutation_p.R805S|CNKSR2_ENST00000425654.2_Missense_Mutation_p.R775S|CNKSR2_ENST00000543067.1_Missense_Mutation_p.R756S	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	805					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CAGAGCACAGGCGGCAGTCTA	0.537																																																	0								ENSG00000149970						64.0	60.0	62.0					X																	21627458		2203	4300	6503	CNKSR2	SO:0001583	missense	0			-	HGNC	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2415G>T	X.37:g.21627458G>T	ENSP00000368824:p.Arg805Ser	Somatic	0	36	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	100	13.68	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.R805S	ENST00000379510.3	37	c.2415	CCDS14198.1	X	.	.	.	.	.	.	.	.	.	.	G	10.84	1.462846	0.26248	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19938	2.37;2.11;2.14;2.4	5.51	2.75	0.32379	.	0.000000	0.85682	D	0.000000	T	0.36991	0.0987	M	0.64997	1.995	0.47374	D	0.999404	D;P;D;D	0.69078	0.997;0.937;0.985;0.984	P;B;P;P	0.60117	0.869;0.328;0.654;0.711	T	0.04551	-1.0943	10	0.54805	T	0.06	-21.7879	12.089	0.53715	0.2504:0.0:0.7496:0.0	.	775;756;397;805	B7ZLJ1;B4DGR4;B3KPN2;Q8WXI2	.;.;.;CNKR2_HUMAN	S	775;756;805;805	ENSP00000397906:R775S;ENSP00000444633:R756S;ENSP00000279451:R805S;ENSP00000368824:R805S	ENSP00000279451:R805S	R	+	3	2	CNKSR2	21537379	1.000000	0.71417	0.999000	0.59377	0.259000	0.26198	1.089000	0.30890	0.160000	0.19432	-2.200000	0.00306	AGG	-	NULL		0.537	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	protein_coding	OTTHUMT00000056019.1	G	NM_014927	-		21627458	+1	no_errors	ENST00000379510	ensembl	human	known	74_37	missense	SNP	0.998	T
H2AFV	94239	genome.wustl.edu	37	7	44874131	44874131	+	Missense_Mutation	SNP	A	A	G	rs114398265		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr7:44874131A>G	ENST00000308153.4	-	5	447	c.356T>C	c.(355-357)aTt>aCt	p.I119T	H2AFV_ENST00000381124.5_3'UTR|H2AFV_ENST00000222690.6_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.I93T|H2AFV_ENST00000521529.1_3'UTR|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000349299.3_Missense_Mutation_p.I81T	NM_012412.4	NP_036544.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	119						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.I119T(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						CTTCTTTCCAATCAGAGATTT	0.368																																																	1	Substitution - Missense(1)	prostate(1)						ENSG00000105968						88.0	76.0	80.0					7																	44874131		2203	4300	6503	H2AFV	SO:0001583	missense	0			-	HGNC	AF081192	CCDS5495.1, CCDS5496.1, CCDS5497.1, CCDS5498.1, CCDS47581.1	7p13	2011-01-27		2004-03-26	ENSG00000105968	ENSG00000105968		"""Histones / Replication-independent"""	20664	protein-coding gene	gene with protein product				H2AV			Standard	NM_012412		Approved	MGC10170, MGC10831, MGC1947	uc003tma.2	Q71UI9	OTTHUMG00000129217	ENST00000308153.4:c.356T>C	7.37:g.44874131A>G	ENSP00000308405:p.Ile119Thr	Somatic	0	58	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	90	10.00	A6NFA8|A6NKY0|A6NN01|A8MQC5|Q59GV8|Q6PK98	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.I119T	ENST00000308153.4	37	c.356	CCDS5496.1	7	.	.	.	.	.	.	.	.	.	.	A	15.33	2.801702	0.50315	.	.	ENSG00000105968	ENST00000349299;ENST00000308153;ENST00000350771	T;D;T	0.83163	0.93;-1.69;0.89	5.61	5.61	0.85477	Histone-fold (1);Histone H2A (2);	.	.	.	.	D	0.82444	0.5038	M	0.69523	2.12	0.80722	D	1	B;B;B	0.17852	0.001;0.024;0.0	B;B;B	0.18871	0.005;0.023;0.001	T	0.80027	-0.1554	9	0.62326	D	0.03	-10.9595	14.0456	0.64704	1.0:0.0:0.0:0.0	.	93;81;119	A6NKY0;A6NFA8;Q71UI9	.;.;H2AV_HUMAN	T	81;119;93	ENSP00000342714:I81T;ENSP00000308405:I119T;ENSP00000340708:I93T	ENSP00000308405:I119T	I	-	2	0	H2AFV	44840656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.631000	0.90991	2.261000	0.74972	0.533000	0.62120	ATT	-	smart_Histone_H2A,prints_Histone_H2A		0.368	H2AFV-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	H2AFV	protein_coding	OTTHUMT00000251305.1	A	NM_012412	rs114398265		44874131	-1	no_errors	ENST00000308153	ensembl	human	known	74_37	missense	SNP	1.000	G
CACNA1D	776	genome.wustl.edu	37	3	53837530	53837530	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr3:53837530delG	ENST00000350061.5	+	44	6027	c.5516delG	c.(5515-5517)tgcfs	p.C1839fs	CACNA1D_ENST00000422281.2_Frame_Shift_Del_p.C1815fs|CACNA1D_ENST00000544977.1_Frame_Shift_Del_p.C218fs|CACNA1D_ENST00000288139.4_Frame_Shift_Del_p.C1859fs	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1839					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GACCCCCACTGCTTGGGGGAG	0.572																																																	0								ENSG00000157388						145.0	150.0	149.0					3																	53837530		2203	4300	6503	CACNA1D	SO:0001589	frameshift_variant	0				HGNC	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5516delG	3.37:g.53837530delG	ENSP00000288133:p.Cys1839fs	Somatic	0	48	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.C1859fs	ENST00000350061.5	37	c.5576	CCDS46848.1	3																																																																																			-	NULL		0.572	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	protein_coding	OTTHUMT00000350557.1	G	NM_000720			53837530	+1	no_errors	ENST00000288139	ensembl	human	known	74_37	frame_shift_del	DEL	0.908	-
OR10K1	391109	genome.wustl.edu	37	1	158435375	158435375	+	Silent	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr1:158435375G>A	ENST00000289451.2	+	1	104	c.24G>A	c.(22-24)gtG>gtA	p.V8V		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ATAAGACTGTGGTGAGAGAGT	0.522																																																	0								ENSG00000173285						90.0	80.0	83.0					1																	158435375		2203	4300	6503	OR10K1	SO:0001819	synonymous_variant	0			-	HGNC	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.24G>A	1.37:g.158435375G>A		Somatic	0	70	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	71	14.46	Q6IFS2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V8	ENST00000289451.2	37	c.24	CCDS30897.1	1																																																																																			-	NULL		0.522	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10K1	protein_coding	OTTHUMT00000046367.1	G		-		158435375	+1	no_errors	ENST00000289451	ensembl	human	known	74_37	silent	SNP	0.000	A
LINGO2	158038	genome.wustl.edu	37	9	27949399	27949399	+	Missense_Mutation	SNP	T	T	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr9:27949399T>A	ENST00000379992.2	-	6	1720	c.1271A>T	c.(1270-1272)gAa>gTa	p.E424V	LINGO2_ENST00000308675.3_Missense_Mutation_p.E424V	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	424	Ig-like C2-type.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTCTGCCCTTCATCTACTAG	0.478																																																	0								ENSG00000174482						96.0	87.0	90.0					9																	27949399		2203	4300	6503	LINGO2	SO:0001583	missense	0			-	HGNC	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.1271A>T	9.37:g.27949399T>A	ENSP00000369328:p.Glu424Val	Somatic	0	46	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	51	29.17	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.E424V	ENST00000379992.2	37	c.1271	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	T	17.35	3.366849	0.61513	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.67865	-0.29;-0.29	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71484	0.3345	L	0.28649	0.875	0.80722	D	1	D	0.62365	0.991	D	0.63113	0.911	T	0.69591	-0.5104	9	.	.	.	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	424	Q7L985	LIGO2_HUMAN	V	424	ENSP00000369328:E424V;ENSP00000310126:E424V	.	E	-	2	0	LINGO2	27939399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	GAA	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.478	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	protein_coding	OTTHUMT00000051978.2	T	NM_152570	-		27949399	-1	no_errors	ENST00000308675	ensembl	human	known	74_37	missense	SNP	1.000	A
TXNRD1	7296	genome.wustl.edu	37	12	104682750	104682750	+	Missense_Mutation	SNP	G	G	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr12:104682750G>T	ENST00000525566.1	+	4	370	c.346G>T	c.(346-348)Gcg>Tcg	p.A116S	TXNRD1_ENST00000526691.1_Missense_Mutation_p.A18S|TXNRD1_ENST00000388854.3_Missense_Mutation_p.A18S|TXNRD1_ENST00000542918.1_Missense_Mutation_p.A16S|TXNRD1_ENST00000540716.1_5'UTR|TXNRD1_ENST00000503506.2_5'UTR|TXNRD1_ENST00000397736.2_5'Flank|TXNRD1_ENST00000429002.2_Missense_Mutation_p.A116S|TXNRD1_ENST00000526390.1_5'UTR|TXNRD1_ENST00000529546.1_5'UTR|TXNRD1_ENST00000524698.1_5'UTR|TXNRD1_ENST00000378070.4_Missense_Mutation_p.A65S|TXNRD1_ENST00000354940.6_Intron	NM_001093771.2	NP_001087240.1	Q16881	TRXR1_HUMAN	thioredoxin reductase 1	116	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	GGAATTGGCCGCGGAAACCGA	0.557																																					Ovarian(139;555 1836 9186 9946 10884)												0								ENSG00000198431						116.0	121.0	120.0					12																	104682750		1895	4109	6004	TXNRD1	SO:0001583	missense	0			-	HGNC		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000525566.1:c.346G>T	12.37:g.104682750G>T	ENSP00000434516:p.Ala116Ser	Somatic	0	38	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	43	18.87	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase	p.A116S	ENST00000525566.1	37	c.346	CCDS53820.1	12	.	.	.	.	.	.	.	.	.	.	G	7.377	0.628067	0.14257	.	.	ENSG00000198431	ENST00000525566;ENST00000429002;ENST00000526691;ENST00000388854;ENST00000542918;ENST00000378070	T;T;T;T;T;T	0.28069	1.63;1.63;1.63;1.63;1.63;1.63	4.18	1.99	0.26369	Glutaredoxin (2);Thioredoxin-like fold (2);	0.816727	0.11389	N	0.569071	T	0.07773	0.0195	N	0.00483	-1.445	0.38800	D	0.955174	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.12156	0.001;0.001;0.007	T	0.20773	-1.0265	10	0.15952	T	0.53	-0.0154	4.7991	0.13287	0.0:0.1324:0.3078:0.5598	.	16;18;116	B7Z2S5;Q16881-4;Q16881	.;.;TRXR1_HUMAN	S	116;116;18;18;16;65	ENSP00000434516:A116S;ENSP00000412045:A116S;ENSP00000435929:A18S;ENSP00000373506:A18S;ENSP00000440978:A16S;ENSP00000367310:A65S	ENSP00000367310:A65S	A	+	1	0	TXNRD1	103206880	0.019000	0.18553	0.212000	0.23672	0.637000	0.38172	-0.171000	0.09883	0.345000	0.23873	0.449000	0.29647	GCG	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold		0.557	TXNRD1-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	TXNRD1	protein_coding	OTTHUMT00000389960.1	G	NM_003330	-		104682750	+1	no_errors	ENST00000429002	ensembl	human	known	74_37	missense	SNP	0.485	T
KIF1A	547	genome.wustl.edu	37	2	241697823	241697823	+	Missense_Mutation	SNP	C	C	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr2:241697823C>T	ENST00000320389.7	-	25	2667	c.2509G>A	c.(2509-2511)Gga>Aga	p.G837R	KIF1A_ENST00000498729.2_Missense_Mutation_p.G846R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	837					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.G837R(1)		NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AAGGGGTCTCCGCCGGTCACC	0.632																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000130294						56.0	66.0	63.0					2																	241697823		2149	4250	6399	KIF1A	SO:0001583	missense	0			-	HGNC	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2509G>A	2.37:g.241697823C>T	ENSP00000322791:p.Gly837Arg	Somatic	0	49	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	39	37.10	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G846R	ENST00000320389.7	37	c.2536	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727943	0.89390	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.75704	-0.96;-0.96;-0.96	5.28	5.28	0.74379	.	0.000000	0.85682	U	0.000000	T	0.81202	0.4773	L	0.36672	1.1	0.80722	D	1	D;D;B	0.89917	0.98;1.0;0.015	P;D;B	0.79108	0.759;0.992;0.031	T	0.80754	-0.1241	10	0.42905	T	0.14	.	18.4813	0.90812	0.0:1.0:0.0:0.0	.	846;846;837	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	R	837;846;846;846	ENSP00000322791:G837R;ENSP00000438388:G846R;ENSP00000384231:G846R	ENSP00000322791:G837R	G	-	1	0	KIF1A	241346496	1.000000	0.71417	0.981000	0.43875	0.970000	0.65996	4.679000	0.61649	2.473000	0.83533	0.591000	0.81541	GGA	-	pfam_KIF1B		0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	C	NM_138483	-		241697823	-1	no_errors	ENST00000498729	ensembl	human	known	74_37	missense	SNP	0.997	T
WWP1	11059	genome.wustl.edu	37	8	87464902	87464902	+	Missense_Mutation	SNP	A	A	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr8:87464902A>T	ENST00000517970.1	+	21	2695	c.2388A>T	c.(2386-2388)gaA>gaT	p.E796D	WWP1_ENST00000265428.4_Missense_Mutation_p.E796D|WWP1_ENST00000341922.2_Missense_Mutation_p.E666D|WWP1_ENST00000349423.2_Missense_Mutation_p.E578D	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	796	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ATGAAAAAGAATTAGAGGTTA	0.388																																																	0								ENSG00000123124						111.0	111.0	111.0					8																	87464902		2203	4300	6503	WWP1	SO:0001583	missense	0			-	HGNC	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.2388A>T	8.37:g.87464902A>T	ENSP00000427793:p.Glu796Asp	Somatic	0	64	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	62	18.42	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E796D	ENST00000517970.1	37	c.2388	CCDS6242.1	8	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139708	0.77775	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.48	3.11	0.35812	HECT (4);	0.000000	0.85682	D	0.000000	T	0.79399	0.4439	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79222	-0.1892	10	0.87932	D	0	.	8.7799	0.34785	0.717:0.0:0.283:0.0	.	796	Q9H0M0	WWP1_HUMAN	D	796;796;666;578	ENSP00000427793:E796D;ENSP00000265428:E796D;ENSP00000340564:E666D;ENSP00000342665:E578D	ENSP00000265428:E796D	E	+	3	2	WWP1	87534018	1.000000	0.71417	0.999000	0.59377	0.973000	0.67179	2.610000	0.46325	0.469000	0.27268	0.528000	0.53228	GAA	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.388	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP1	protein_coding	OTTHUMT00000374755.1	A	NM_007013	-		87464902	+1	no_errors	ENST00000265428	ensembl	human	known	74_37	missense	SNP	0.999	T
LINC00955	285492	genome.wustl.edu	37	4	3589656	3589669	+	Frame_Shift_Del	DEL	ACTCCCAGATGCAG	ACTCCCAGATGCAG	-	rs537957602|rs376169500|rs370505811|rs201651178	byFrequency	TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	ACTCCCAGATGCAG	ACTCCCAGATGCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr4:3589656_3589669delACTCCCAGATGCAG	ENST00000514422.1	+	2	310_323	c.24_37delACTCCCAGATGCAG	c.(22-39)gcactcccagatgcagacfs	p.LPDAD9fs						long intergenic non-protein coding RNA 955																		GTGCACCTGCACTCCCAGATGCAGACTTCCTGGT	0.547																																																	0								ENSG00000216560																																			LINC00955	SO:0001589	frameshift_variant	0				HGNC	AK092743		4p16.3	2014-04-09			ENSG00000216560	ENSG00000216560			26644	other	unknown							Standard	NR_040045		Approved	FLJ35424			OTTHUMG00000159817	ENST00000514422.1:c.24_37delACTCCCAGATGCAG	4.37:g.3589656_3589669delACTCCCAGATGCAG	ENSP00000427553:p.Leu9fs	Somatic	NA	NA	NA		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.D11fs	ENST00000514422.1	37	c.24_37		4																																																																																			-	NULL		0.547	LINC00955-001	NOVEL	basic|appris_principal	protein_coding	LINC00955	protein_coding	OTTHUMT00000357538.6	ACTCCCAGATGCAG				3589669	+1	no_errors	ENST00000514422	ensembl	human	novel	74_37	frame_shift_del	DEL	0.086:0.080:0.080:0.088:0.143:0.156:0.154:0.145:0.135:0.135:0.134:0.130:0.136:0.162	-
ZNF99	7652	genome.wustl.edu	37	19	22941446	22941446	+	Missense_Mutation	SNP	T	T	C			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr19:22941446T>C	ENST00000596209.1	-	4	1355	c.1265A>G	c.(1264-1266)gAg>gGg	p.E422G	ZNF99_ENST00000397104.3_Missense_Mutation_p.E331G	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCAGGGTTTCTCTGCAGTATG	0.363																																																	0								ENSG00000213973						45.0	47.0	46.0					19																	22941446		2009	4204	6213	ZNF99	SO:0001583	missense	0			-	HGNC	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1265A>G	19.37:g.22941446T>C	ENSP00000472969:p.Glu422Gly	Somatic	0	52	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	75	16.67	M0R335	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E331G	ENST00000596209.1	37	c.992	CCDS59369.1	19	.	.	.	.	.	.	.	.	.	.	N	12.91	2.080674	0.36758	.	.	ENSG00000213973	ENST00000397104	T	0.20332	2.08	1.28	1.28	0.21552	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22627	0.0546	L	0.53780	1.695	0.28366	N	0.920212	P	0.40909	0.732	B	0.43658	0.426	T	0.15435	-1.0437	9	0.87932	D	0	.	5.9848	0.19428	0.0:0.0:0.0:1.0	.	331	A8MXY4	ZNF99_HUMAN	G	331	ENSP00000380293:E331G	ENSP00000380293:E331G	E	-	2	0	ZNF99	22733286	0.385000	0.25172	0.027000	0.17364	0.028000	0.11728	3.588000	0.53964	0.566000	0.29273	0.325000	0.21440	GAG	-	pfscan_Znf_C2H2		0.363	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	ZNF99	protein_coding	OTTHUMT00000464591.1	T	XM_065124	-		22941446	-1	no_errors	ENST00000397104	ensembl	human	known	74_37	missense	SNP	0.880	C
NXF1	10482	genome.wustl.edu	37	11	62572871	62572871	+	5'UTR	SNP	C	C	G			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:62572871C>G	ENST00000532297.1	-	0	587				RP11-727F15.13_ENST00000596971.1_RNA|NXF1_ENST00000531131.1_5'UTR|NXF1_ENST00000439713.2_5'UTR|NXF1_ENST00000294172.2_5'UTR|NXF1_ENST00000531709.2_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTGGCCGCTACGCCGGCAAAC	0.642																																																	0								ENSG00000162231						39.0	34.0	36.0					11																	62572871		2201	4299	6500	NXF1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.-43G>C	11.37:g.62572871C>G		Somatic	0	56	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	49	36.36	B4E269|Q99799|Q9UQL2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000532297.1	37	NULL	CCDS8037.1	11																																																																																			-	-		0.642	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	protein_coding	OTTHUMT00000395365.2	C	NM_006362	-		62572871	-1	no_errors	ENST00000526163	ensembl	human	known	74_37	rna	SNP	0.001	G
PGC	5225	genome.wustl.edu	37	6	41707609	41707609	+	Silent	SNP	C	C	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr6:41707609C>A	ENST00000373025.3	-	7	905	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	281					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GCACAGTGAGCAGAGAGGTGC	0.617																																																	0								ENSG00000096088						95.0	89.0	91.0					6																	41707609		2203	4300	6503	PGC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.843G>T	6.37:g.41707609C>A		Somatic	0	55	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	106	8.62	B4DVZ3|Q5T3D7|Q5T3D8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase	p.L281	ENST00000373025.3	37	c.843	CCDS4859.1	6																																																																																			-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase		0.617	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGC	protein_coding	OTTHUMT00000040521.2	C		-		41707609	-1	no_errors	ENST00000373025	ensembl	human	known	74_37	silent	SNP	1.000	A
TYRO3	7301	genome.wustl.edu	37	15	41865505	41865505	+	Splice_Site	SNP	G	G	T	rs142510731	byFrequency	TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr15:41865505G>T	ENST00000263798.3	+	17	2209		c.e17-1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GCCCCTTGTAGGCTGGCAGAG	0.562													G|||	56	0.0111821	0.0038	0.0159	5008	,	,		19330	0.006		0.0298	False		,,,				2504	0.0041																0								ENSG00000092445						212.0	210.0	211.0					15																	41865505		2203	4300	6503	TYRO3	SO:0001630	splice_region_variant	0			-	HGNC	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1986-1G>T	15.37:g.41865505G>T		Somatic	0	45	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	47	11.32	O14953|Q86VR3	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e17-1	ENST00000263798.3	37	c.1986-1	CCDS10080.1	15	.	.	.	.	.	.	.	.	.	.	G	17.81	3.481650	0.63849	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6692	0.88212	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TYRO3	39652797	1.000000	0.71417	0.998000	0.56505	0.670000	0.39368	9.869000	0.99810	2.607000	0.88179	0.650000	0.86243	.	-	-		0.562	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYRO3	protein_coding	OTTHUMT00000252693.2	G		rs142510731	Intron	41865505	+1	no_errors	ENST00000263798	ensembl	human	known	74_37	splice_site	SNP	1.000	T
CYLC1	1538	genome.wustl.edu	37	X	83128692	83128692	+	Missense_Mutation	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:83128692G>A	ENST00000329312.4	+	4	1013	c.976G>A	c.(976-978)Gta>Ata	p.V326I		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	326					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GAAAAAGGATGTAAAGAAGGA	0.333																																																	0								ENSG00000183035						47.0	42.0	44.0					X																	83128692		2195	4296	6491	CYLC1	SO:0001583	missense	0			-	HGNC	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.976G>A	X.37:g.83128692G>A	ENSP00000331556:p.Val326Ile	Somatic	0	20	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V326I	ENST00000329312.4	37	c.976	CCDS35341.1	X	.	.	.	.	.	.	.	.	.	.	g	10.23	1.292472	0.23564	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.22539	1.95	3.94	-0.282	0.12878	.	.	.	.	.	T	0.16342	0.0393	L	0.36672	1.1	0.09310	N	1	B;B	0.27732	0.187;0.187	B;B	0.26770	0.073;0.073	T	0.19353	-1.0308	9	0.45353	T	0.12	3.998	10.4977	0.44788	0.0:0.0:0.3235:0.6765	.	326;326	P35663;F5H4V5	CYLC1_HUMAN;.	I	326	ENSP00000331556:V326I	ENSP00000331556:V326I	V	+	1	0	CYLC1	83015348	0.009000	0.17119	0.112000	0.21494	0.968000	0.65278	-0.066000	0.11598	-0.319000	0.08652	0.436000	0.28706	GTA	-	NULL		0.333	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	protein_coding	OTTHUMT00000057371.1	G	NM_021118	-		83128692	+1	no_errors	ENST00000329312	ensembl	human	known	74_37	missense	SNP	0.196	A
ZBTB46	140685	genome.wustl.edu	37	20	62421656	62421656	+	Missense_Mutation	SNP	C	C	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr20:62421656C>T	ENST00000245663.4	-	2	605	c.455G>A	c.(454-456)aGc>aAc	p.S152N	ZBTB46_ENST00000480766.1_5'Flank|ZBTB46_ENST00000302995.2_Missense_Mutation_p.S152N|ZBTB46_ENST00000395104.1_Missense_Mutation_p.S152N	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	152					negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of monocyte differentiation (GO:0045656)|positive regulation of dendritic cell differentiation (GO:2001200)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					TTCCGTGCTGCTGCTGGACGA	0.632																																																	0								ENSG00000130584						33.0	30.0	31.0					20																	62421656		2203	4300	6503	ZBTB46	SO:0001583	missense	0			-	HGNC	AK131482	CCDS13538.1	20q13.33	2013-01-08	2006-09-19	2006-09-19	ENSG00000130584	ENSG00000130584		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16094	protein-coding gene	gene with protein product	"""BTB-ZF protein expressed in effector lymphocytes"""	614639	"""BTB (POZ) domain containing 4"""	ZNF340, BTBD4			Standard	NM_025224		Approved	FLJ13502, RINZF, BZEL	uc002ygv.2	Q86UZ6	OTTHUMG00000033001	ENST00000245663.4:c.455G>A	20.37:g.62421656C>T	ENSP00000245663:p.Ser152Asn	Somatic	0	40	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	87	29.84	E1P5K9|Q5JWJ3|Q6GMV4|Q9BQK3|Q9H3Z8|Q9H3Z9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S152N	ENST00000245663.4	37	c.455	CCDS13538.1	20	.	.	.	.	.	.	.	.	.	.	C	9.139	1.013352	0.19277	.	.	ENSG00000130584	ENST00000245663;ENST00000302995;ENST00000395104	T;T;T	0.10573	2.86;2.86;2.86	5.64	4.69	0.59074	.	0.494435	0.24833	N	0.035232	T	0.08358	0.0208	N	0.25647	0.755	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.29518	-1.0009	10	0.21014	T	0.42	.	12.7756	0.57445	0.0:0.9201:0.0:0.0799	.	152	Q86UZ6	ZBT46_HUMAN	N	152	ENSP00000245663:S152N;ENSP00000303102:S152N;ENSP00000378536:S152N	ENSP00000245663:S152N	S	-	2	0	ZBTB46	61892100	0.208000	0.23494	0.003000	0.11579	0.006000	0.05464	2.161000	0.42358	1.370000	0.46153	0.650000	0.86243	AGC	-	NULL		0.632	ZBTB46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB46	protein_coding	OTTHUMT00000080232.2	C	NM_025224	-		62421656	-1	no_errors	ENST00000245663	ensembl	human	known	74_37	missense	SNP	0.265	T
TTC21A	199223	genome.wustl.edu	37	3	39172247	39172247	+	Missense_Mutation	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr3:39172247G>A	ENST00000431162.2	+	18	2530	c.2396G>A	c.(2395-2397)tGc>tAc	p.C799Y	TTC21A_ENST00000301819.6_Missense_Mutation_p.C800Y|TTC21A_ENST00000440121.1_Missense_Mutation_p.C751Y			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	799										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTTCTGTGCTGCGATCTGGGC	0.443																																																	0								ENSG00000168026						88.0	87.0	87.0					3																	39172247		1935	4148	6083	TTC21A	SO:0001583	missense	0			-	HGNC	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2396G>A	3.37:g.39172247G>A	ENSP00000398211:p.Cys799Tyr	Somatic	0	25	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C800Y	ENST00000431162.2	37	c.2399	CCDS46800.1	3	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.512480	0.00984	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.49139	1.44;0.79;0.79	4.73	2.91	0.33838	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.707775	0.13553	N	0.379329	T	0.26484	0.0647	L	0.28556	0.865	0.34605	D	0.716893	B;P;P	0.45634	0.014;0.834;0.863	B;B;B	0.38378	0.009;0.178;0.272	T	0.36311	-0.9753	10	0.02654	T	1	-2.0729	6.6335	0.22869	0.1687:0.1502:0.6811:0.0	.	751;800;799	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	Y	800;782;799;751	ENSP00000301819:C800Y;ENSP00000398211:C799Y;ENSP00000410882:C751Y	ENSP00000301819:C800Y	C	+	2	0	TTC21A	39147251	0.973000	0.33851	0.359000	0.25824	0.560000	0.35617	2.034000	0.41145	0.529000	0.28599	0.563000	0.77884	TGC	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.443	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC21A	protein_coding	OTTHUMT00000377829.1	G	NM_145755	-		39172247	+1	no_errors	ENST00000301819	ensembl	human	known	74_37	missense	SNP	0.906	A
POU4F2	5458	genome.wustl.edu	37	4	147560580	147560580	+	Splice_Site	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr4:147560580G>A	ENST00000281321.3	+	1	536	c.288G>A	c.(286-288)ccG>ccA	p.P96P	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	96					axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CAACCCCACCGGTGCGTATTT	0.592																																																	0								ENSG00000151615						43.0	48.0	46.0					4																	147560580		2199	4300	6499	POU4F2	SO:0001630	splice_region_variant	0			-	HGNC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.288+1G>A	4.37:g.147560580G>A		Somatic	0	43	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	B1PJR6|B2RC84|Q13883|Q14987	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P96	ENST00000281321.3	37	c.288	CCDS34074.1	4																																																																																			-	NULL		0.592	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F2	protein_coding	OTTHUMT00000367020.1	G	NM_004575	-	Silent	147560580	+1	no_errors	ENST00000281321	ensembl	human	known	74_37	silent	SNP	1.000	A
TET3	200424	genome.wustl.edu	37	2	74273485	74273485	+	Silent	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr2:74273485G>A	ENST00000409262.3	+	1	36	c.36G>A	c.(34-36)cgG>cgA	p.R12R		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	12					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGACTCACGGCAGCTAAGCG	0.617																																																	0								ENSG00000187605						42.0	44.0	43.0					2																	74273485		1945	4145	6090	TET3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.36G>A	2.37:g.74273485G>A		Somatic	0	42	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R12	ENST00000409262.3	37	c.36	CCDS46339.1	2																																																																																			-	NULL		0.617	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	G		-		74273485	+1	no_errors	ENST00000409262	ensembl	human	known	74_37	silent	SNP	1.000	A
FBXW5	54461	genome.wustl.edu	37	9	139835424	139835424	+	Missense_Mutation	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr9:139835424G>A	ENST00000325285.3	-	9	1736	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	RP11-229P13.25_ENST00000569497.1_RNA|FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	553					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GTGCGAGGCCGTGGGCGAGGT	0.687																																																	0								ENSG00000159069						44.0	41.0	42.0					9																	139835424		2171	4281	6452	FBXW5	SO:0001583	missense	0			-	HGNC	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1657C>T	9.37:g.139835424G>A	ENSP00000313034:p.Arg553Trp	Somatic	0	42	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	74	15.91	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R553W	ENST00000325285.3	37	c.1657	CCDS7014.1	9	.	.	.	.	.	.	.	.	.	.	G	10.04	1.242078	0.22796	.	.	ENSG00000159069	ENST00000325285	T	0.75938	-0.98	3.78	1.82	0.25136	.	0.547535	0.16101	N	0.229571	T	0.69940	0.3167	M	0.63428	1.95	0.20307	N	0.999912	D;D	0.60575	0.988;0.975	P;B	0.46339	0.513;0.312	T	0.62272	-0.6889	10	0.66056	D	0.02	.	5.1189	0.14851	0.1005:0.0:0.5265:0.3729	.	418;553	Q59ET5;Q969U6	.;FBXW5_HUMAN	W	553	ENSP00000313034:R553W	ENSP00000313034:R553W	R	-	1	2	FBXW5	138955245	0.995000	0.38212	0.004000	0.12327	0.003000	0.03518	2.293000	0.43558	0.234000	0.21139	0.561000	0.74099	CGG	-	NULL		0.687	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	protein_coding	OTTHUMT00000055227.1	G	NM_018998	-		139835424	-1	no_errors	ENST00000325285	ensembl	human	known	74_37	missense	SNP	0.110	A
LPHN2	23266	genome.wustl.edu	37	1	82408662	82408662	+	Missense_Mutation	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr1:82408662G>A	ENST00000370728.1	+	8	1052	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	LPHN2_ENST00000335786.5_Missense_Mutation_p.C136Y|LPHN2_ENST00000370730.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000319517.6_Missense_Mutation_p.C136Y|LPHN2_ENST00000370721.1_Missense_Mutation_p.C140Y|LPHN2_ENST00000359929.3_Missense_Mutation_p.C136Y|LPHN2_ENST00000394879.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000370717.2_Missense_Mutation_p.C136Y|LPHN2_ENST00000370713.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000370723.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000271029.4_Missense_Mutation_p.C136Y|LPHN2_ENST00000370725.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.C136Y|LPHN2_ENST00000370727.1_Missense_Mutation_p.C136Y			O95490	LPHN2_HUMAN	latrophilin 2	136	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTTTTTGTGTGTCCTGGGACC	0.393																																																	0								ENSG00000117114						72.0	77.0	75.0					1																	82408662		2201	4296	6497	LPHN2	SO:0001583	missense	0			-	HGNC	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.407G>A	1.37:g.82408662G>A	ENSP00000359763:p.Cys136Tyr	Somatic	0	69	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	107	15.75	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.C136Y	ENST00000370728.1	37	c.407		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.76|17.76	3.469211|3.469211	0.63625|0.63625	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.76578|.	-1.03;-0.79;-0.73;-0.68;-0.73;-0.69;-0.7;-0.73;-0.72;-0.7;-0.73;-0.69;-0.68;-0.73|.	5.9|5.9	5.9|5.9	0.94986|0.94986	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83308|0.83308	0.5226|0.5226	M|M	0.88775|0.88775	2.98|2.98	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.999;0.999|.	D;D;D|.	0.75484|.	0.986;0.969;0.986|.	D|D	0.84295|0.84295	0.0502|0.0502	10|5	0.87932|.	D|.	0|.	.|.	20.2789|20.2789	0.98501|0.98501	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	136;136;136|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	Y|I	140;136;136;136;136;136;136;136;136;136;136;136;136;136|4	ENSP00000359756:C140Y;ENSP00000359763:C136Y;ENSP00000359765:C136Y;ENSP00000359762:C136Y;ENSP00000359760:C136Y;ENSP00000359758:C136Y;ENSP00000353006:C136Y;ENSP00000359750:C136Y;ENSP00000359748:C136Y;ENSP00000322270:C136Y;ENSP00000359752:C136Y;ENSP00000378344:C136Y;ENSP00000271029:C136Y;ENSP00000337306:C136Y|.	ENSP00000271029:C136Y|.	C|V	+|+	2|1	0|0	LPHN2|LPHN2	82181250|82181250	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.788000|2.788000	0.95919|0.95919	0.650000|0.650000	0.86243|0.86243	TGT|GTC	-	pfscan_Olfac-like		0.393	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	protein_coding	OTTHUMT00000027188.1	G	NM_012302	-		82408662	+1	no_errors	ENST00000370717	ensembl	human	known	74_37	missense	SNP	1.000	A
FAM47B	170062	genome.wustl.edu	37	X	34961413	34961413	+	Silent	SNP	C	C	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:34961413C>A	ENST00000329357.5	+	1	501	c.465C>A	c.(463-465)ccC>ccA	p.P155P		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	155										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGGATCCCGAGAGGAAGC	0.562																																																	0								ENSG00000189132						56.0	50.0	52.0					X																	34961413		2202	4300	6502	FAM47B	SO:0001819	synonymous_variant	0			-	HGNC	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.465C>A	X.37:g.34961413C>A		Somatic	0	91	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	136	9.93	Q5JQN5|Q6PIG3	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P155	ENST00000329357.5	37	c.465	CCDS14236.1	X																																																																																			-	NULL		0.562	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	protein_coding	OTTHUMT00000056211.1	C	NM_152631	-		34961413	+1	no_errors	ENST00000329357	ensembl	human	known	74_37	silent	SNP	0.113	A
SFMBT2	57713	genome.wustl.edu	37	10	7409806	7409806	+	Missense_Mutation	SNP	C	C	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr10:7409806C>T	ENST00000361972.4	-	4	331	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	SFMBT2_ENST00000379711.2_Missense_Mutation_p.E81K|SFMBT2_ENST00000397160.3_Missense_Mutation_p.E81K|SFMBT2_ENST00000397167.1_Missense_Mutation_p.E81K|SFMBT2_ENST00000379713.3_Missense_Mutation_p.E81K	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	81					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTAGCCACTTCCAATTTCATT	0.483																																																	0								ENSG00000198879						73.0	72.0	72.0					10																	7409806		2203	4300	6503	SFMBT2	SO:0001583	missense	0			-	HGNC	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.241G>A	10.37:g.7409806C>T	ENSP00000355109:p.Glu81Lys	Somatic	0	30	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	A7MD09|Q9HCF5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,superfamily_ARM-type_fold,smart_Mbt,smart_SAM,pfscan_Mbt	p.E81K	ENST00000361972.4	37	c.241	CCDS31138.1	10	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703849	0.88924	.	.	ENSG00000198879	ENST00000361972;ENST00000397167;ENST00000379713;ENST00000379711;ENST00000397160	T;T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7;-0.7	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.89491	0.6730	H	0.96398	3.815	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	D	0.92764	0.6226	10	0.72032	D	0.01	.	18.276	0.90084	0.0:1.0:0.0:0.0	.	81;81	Q5T981;Q5VUG0	.;SMBT2_HUMAN	K	81	ENSP00000355109:E81K;ENSP00000380353:E81K;ENSP00000369035:E81K;ENSP00000369033:E81K;ENSP00000380346:E81K	ENSP00000355109:E81K	E	-	1	0	SFMBT2	7449812	1.000000	0.71417	0.997000	0.53966	0.577000	0.36160	7.711000	0.84669	2.482000	0.83794	0.305000	0.20034	GAA	-	pfam_Mbt,smart_Mbt,pfscan_Mbt		0.483	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT2	protein_coding	OTTHUMT00000046673.1	C	NM_001029880	-		7409806	-1	no_errors	ENST00000361972	ensembl	human	known	74_37	missense	SNP	1.000	T
PLA2G4E	123745	genome.wustl.edu	37	15	42302340	42302341	+	Frame_Shift_Ins	INS	-	-	CCCCG	rs374407634|rs139522193		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr15:42302340_42302341insCCCCG	ENST00000413860.2	-	1	104_105	c.105_106insCGGGG	c.(103-108)cggggtfs	p.-35fs	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		GCCCCCCCACCCCGGGCCTGGA	0.599																																																	0								ENSG00000188089																																			PLA2G4E	SO:0001589	frameshift_variant	0				HGNC		CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.105_106insCGGGG	15.37:g.42302340_42302341insCCCCG	ENSP00000413897:p.Arg35fs	Somatic	NA	NA	NA		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q6ZSC0	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom	p.G35fs	ENST00000413860.2	37	c.106_105		15																																																																																			-	pfscan_C2_dom		0.599	PLA2G4E-201	KNOWN	basic	protein_coding	PLA2G4E	protein_coding		-	NM_198442			42302341	-1	no_errors	ENST00000413860	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	CCCCG
NUMBL	9253	genome.wustl.edu	37	19	41173904	41173904	+	Silent	SNP	T	T	C	rs79658769		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr19:41173904T>C	ENST00000252891.4	-	10	1466	c.1299A>G	c.(1297-1299)caA>caG	p.Q433Q	NUMBL_ENST00000598779.1_Silent_p.Q392Q|NUMBL_ENST00000540131.1_Silent_p.Q392Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	433	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			gctgttgctgttgctgctgct	0.662																																																	0								ENSG00000105245						8.0	8.0	8.0					19																	41173904		2119	4125	6244	NUMBL	SO:0001819	synonymous_variant	0			-	HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1299A>G	19.37:g.41173904T>C		Somatic	0	19	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	Q7Z4J9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.Q433	ENST00000252891.4	37	c.1299	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	T	NM_004756	rs79658769		41173904	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	silent	SNP	0.999	C
C9orf72	203228	genome.wustl.edu	37	9	27566948	27566948	+	Silent	SNP	T	T	C			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr9:27566948T>C	ENST00000380003.3	-	2	234	c.171A>G	c.(169-171)ggA>ggG	p.G57G	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Silent_p.G57G	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	57					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		AAGTTATTTCTCCATCACTGA	0.398																																																	0								ENSG00000147894						113.0	105.0	108.0					9																	27566948		2203	4300	6503	C9orf72	SO:0001819	synonymous_variant	0			-	HGNC	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.171A>G	9.37:g.27566948T>C		Somatic	0	35	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G57	ENST00000380003.3	37	c.171	CCDS6522.1	9																																																																																			-	NULL		0.398	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf72	protein_coding	OTTHUMT00000051969.1	T	NM_018325	-		27566948	-1	no_errors	ENST00000380003	ensembl	human	known	74_37	silent	SNP	1.000	C
LAMB1	3912	genome.wustl.edu	37	7	107626774	107626774	+	Missense_Mutation	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr7:107626774G>A	ENST00000222399.6	-	6	688	c.458C>T	c.(457-459)tCg>tTg	p.S153L	LAMB1_ENST00000393560.1_Missense_Mutation_p.S153L|LAMB1_ENST00000393561.1_Missense_Mutation_p.S177L	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	153	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)	p.S153L(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AAAGTCGGACGATCGTTCTAT	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000091136						80.0	80.0	80.0					7																	107626774		2203	4300	6503	LAMB1	SO:0001583	missense	0			-	HGNC	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.458C>T	7.37:g.107626774G>A	ENSP00000222399:p.Ser153Leu	Somatic	0	44	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	63	16.00	Q14D91	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.S153L	ENST00000222399.6	37	c.458	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.498723	0.96355	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.79940	-1.32;-1.32;-1.32	5.86	5.86	0.93980	Laminin, N-terminal (3);	.	.	.	.	D	0.93390	0.7892	H	0.95043	3.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.94537	0.7741	9	0.87932	D	0	.	20.1916	0.98230	0.0:0.0:1.0:0.0	.	153;153;177	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	L	177;153;153	ENSP00000377191:S177L;ENSP00000222399:S153L;ENSP00000377190:S153L	ENSP00000222399:S153L	S	-	2	0	LAMB1	107414010	1.000000	0.71417	0.470000	0.27216	0.995000	0.86356	9.827000	0.99397	2.770000	0.95276	0.655000	0.94253	TCG	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.428	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	protein_coding	OTTHUMT00000314584.1	G	NM_002291	-		107626774	-1	no_errors	ENST00000222399	ensembl	human	known	74_37	missense	SNP	1.000	A
GIMAP8	155038	genome.wustl.edu	37	7	150174547	150174547	+	Silent	SNP	C	C	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr7:150174547C>T	ENST00000307271.3	+	5	2251	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	559	AIG1-type G 3.					cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTACGAAATACGCGATTATGC	0.473																																																	0								ENSG00000171115						90.0	91.0	91.0					7																	150174547		2203	4300	6503	GIMAP8	SO:0001819	synonymous_variant	0			-	HGNC	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1677C>T	7.37:g.150174547C>T		Somatic	0	22	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AIG1,superfamily_P-loop_NTPase	p.Y559	ENST00000307271.3	37	c.1677	CCDS34777.1	7																																																																																			-	pfam_AIG1,superfamily_P-loop_NTPase		0.473	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	protein_coding	OTTHUMT00000350701.1	C	NM_175571	-		150174547	+1	no_errors	ENST00000307271	ensembl	human	known	74_37	silent	SNP	0.009	T
AP1G2	8906	genome.wustl.edu	37	14	24036898	24036899	+	5'UTR	INS	-	-	CAGCGGCAGCGGCAGCGA	rs61555275|rs71425097		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr14:24036898_24036899insCAGCGGCAGCGGCAGCGA	ENST00000308724.5	-	0	380_381				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)		TCCATCTCAGGCAGCGGCAGCG	0.634																																																	0								ENSG00000258727																																			RP11-66N24.3	SO:0001623	5_prime_UTR_variant	0				Clone_based_vega_gene	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.-376->TCGCTGCCGCTGCCGCTG	14.37:g.24036898_24036899insCAGCGGCAGCGGCAGCGA		Somatic	NA	NA	NA		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	D3DS51|O75504	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000308724.5	37	NULL	CCDS9602.1	14																																																																																			-	-		0.634	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258727	protein_coding	OTTHUMT00000071812.4	-	NM_003917			24036899	+1	no_errors	ENST00000555968	ensembl	human	known	74_37	rna	INS	0.018:0.018	CAGCGGCAGCGGCAGCGA
ATRX	546	genome.wustl.edu	37	X	76761237	76761237	+	3'UTR	SNP	A	A	C			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:76761237A>C	ENST00000373344.5	-	0	10285				ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_3'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTAAGTTTCAACTACTAAAC	0.289			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	0								ENSG00000085224																																			ATRX	SO:0001624	3_prime_UTR_variant	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.*2592T>G	X.37:g.76761237A>C		Somatic	0	32	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000373344.5	37	NULL	CCDS14434.1	X																																																																																			-	-		0.289	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	A	NM_000489	-		76761237	-1	no_errors	ENST00000480283	ensembl	human	known	74_37	rna	SNP	1.000	C
LRRC30	339291	genome.wustl.edu	37	18	7231238	7231238	+	Silent	SNP	G	G	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr18:7231238G>T	ENST00000383467.2	+	1	116	c.102G>T	c.(100-102)ctG>ctT	p.L34L		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	34										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ACGATGCCCTGCTCTCGGGAA	0.617																																																	0								ENSG00000206422						69.0	74.0	72.0					18																	7231238		1982	4153	6135	LRRC30	SO:0001819	synonymous_variant	0			-	HGNC		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.102G>T	18.37:g.7231238G>T		Somatic	0	40	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L34	ENST00000383467.2	37	c.102	CCDS42409.1	18																																																																																			-	NULL		0.617	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC30	protein_coding	OTTHUMT00000442140.1	G	XM_292678	-		7231238	+1	no_errors	ENST00000383467	ensembl	human	known	74_37	silent	SNP	0.693	T
OR4A47	403253	genome.wustl.edu	37	11	48510419	48510419	+	Silent	SNP	T	T	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:48510419T>A	ENST00000446524.1	+	1	151	c.75T>A	c.(73-75)ctT>ctA	p.L25L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AGAAAGTACTTTTTGTTATGT	0.443																																																	0								ENSG00000237388						36.0	34.0	35.0					11																	48510419		2201	4288	6489	OR4A47	SO:0001819	synonymous_variant	0			-	HGNC	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.75T>A	11.37:g.48510419T>A		Somatic	0	72	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	52	47	52.53		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L25	ENST00000446524.1	37	c.75	CCDS31490.1	11																																																																																			-	prints_GPCR_Rhodpsn		0.443	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	protein_coding	OTTHUMT00000390559.1	T	NM_001005512	-		48510419	+1	no_errors	ENST00000446524	ensembl	human	known	74_37	silent	SNP	0.000	A
MYH9	4627	genome.wustl.edu	37	22	36678786	36678786	+	Silent	SNP	T	T	C			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr22:36678786T>C	ENST00000216181.5	-	41	6041	c.5811A>G	c.(5809-5811)aaA>aaG	p.K1937K	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1937					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCCCGGCGCCTTTCCGGGCCA	0.677			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0								ENSG00000100345																																			MYH9	SO:0001819	synonymous_variant	0	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	-	HGNC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.5811A>G	22.37:g.36678786T>C		Somatic	0	64	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	59	23	71.95	A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K1937	ENST00000216181.5	37	c.5811	CCDS13927.1	22																																																																																			-	NULL		0.677	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	protein_coding	OTTHUMT00000259110.3	T	NM_002473	rs139624264		36678786	-1	no_errors	ENST00000216181	ensembl	human	known	74_37	silent	SNP	0.997	C
ATRX	546	genome.wustl.edu	37	X	76855962	76855962	+	Missense_Mutation	SNP	T	T	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:76855962T>A	ENST00000373344.5	-	23	5852	c.5638A>T	c.(5638-5640)Agt>Tgt	p.S1880C	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S1842C	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1880					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CATATTCTACTTAACATCTGA	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)						ENSG00000085224						214.0	186.0	195.0					X																	76855962		2203	4296	6499	ATRX	SO:0001583	missense	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5638A>T	X.37:g.76855962T>A	ENSP00000362441:p.Ser1880Cys	Somatic	0	91	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	87	17.92	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S1880C	ENST00000373344.5	37	c.5638	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	T	17.41	3.382028	0.61845	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.93307	-3.2;-3.2	5.2	5.2	0.72013	SNF2-related (1);	0.000000	0.85682	U	0.000000	D	0.94132	0.8118	L	0.33624	1.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.93720	0.7032	10	0.39692	T	0.17	-9.1943	14.1249	0.65213	0.0:0.0:0.0:1.0	.	1842;1880	P46100-4;P46100	.;ATRX_HUMAN	C	1880;1842	ENSP00000362441:S1880C;ENSP00000378967:S1842C	ENSP00000362441:S1880C	S	-	1	0	ATRX	76742618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	1.713000	0.51359	0.437000	0.28790	AGT	-	pfam_SNF2_N,superfamily_P-loop_NTPase		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	T	NM_000489	-		76855962	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	missense	SNP	1.000	A
CYP2C9	1559	genome.wustl.edu	37	10	96731898	96731898	+	Missense_Mutation	SNP	G	G	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr10:96731898G>T	ENST00000260682.6	+	6	869	c.857G>T	c.(856-858)aGc>aTc	p.S286I		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	286					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ACTATTGAAAGCTTGGAAAAC	0.413																																					Ovarian(54;1266 1406 16072 35076)												0								ENSG00000138109						151.0	143.0	145.0					10																	96731898		2203	4300	6503	CYP2C9	SO:0001583	missense	0			-	HGNC	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.857G>T	10.37:g.96731898G>T	ENSP00000260682:p.Ser286Ile	Somatic	0	85	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	59	20.27	P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S286I	ENST00000260682.6	37	c.857	CCDS7437.1	10	.	.	.	.	.	.	.	.	.	.	.	13.50	2.256579	0.39896	.	.	ENSG00000138109	ENST00000545448;ENST00000260682	T	0.68903	-0.36	2.95	-1.22	0.09494	.	0.232666	0.31872	U	0.006932	T	0.61413	0.2345	N	0.21508	0.67	0.20196	N	0.999929	D;D	0.67145	0.996;0.996	D;D	0.70487	0.969;0.969	T	0.54234	-0.8324	10	0.87932	D	0	.	3.7307	0.08492	0.5698:0.1917:0.2384:0.0	.	286;286	Q5VX92;P11712	.;CP2C9_HUMAN	I	286	ENSP00000260682:S286I	ENSP00000260682:S286I	S	+	2	0	CYP2C9	96721888	0.006000	0.16342	0.001000	0.08648	0.024000	0.10985	0.721000	0.25911	-0.359000	0.08150	-0.475000	0.04921	AGC	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B		0.413	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C9	protein_coding	OTTHUMT00000049501.1	G	NM_000771	-		96731898	+1	no_errors	ENST00000260682	ensembl	human	known	74_37	missense	SNP	0.766	T
OR5L1	219437	genome.wustl.edu	37	11	55579035	55579035	+	Silent	SNP	C	C	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr11:55579035C>T	ENST00000333973.2	+	1	182	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCCTGCTGTTCCTTCTCATCT	0.512																																																	0								ENSG00000186117						261.0	236.0	244.0					11																	55579035		2200	4296	6496	OR5L1	SO:0001819	synonymous_variant	0			-	HGNC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.93C>T	11.37:g.55579035C>T		Somatic	0	92	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	68	24.44	B2RNK6|Q6IFD0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31	ENST00000333973.2	37	c.93	CCDS31509.1	11																																																																																			-	prints_GPCR_Rhodpsn		0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	protein_coding	OTTHUMT00000391514.1	C	NM_001004738	-		55579035	+1	no_errors	ENST00000333973	ensembl	human	known	74_37	silent	SNP	0.000	T
SCARF2	91179	genome.wustl.edu	37	22	20780112	20780112	+	Silent	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr22:20780112G>A	ENST00000266214.5	-	11	2270	c.2166C>T	c.(2164-2166)cgC>cgT	p.R722R	SCARF2_ENST00000405555.3_Silent_p.R717R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	722	Pro-rich.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCGTTGGGTCGCGGGTCCGGG	0.786																																																	0								ENSG00000244486						7.0	7.0	7.0					22																	20780112		1916	3744	5660	SCARF2	SO:0001819	synonymous_variant	0			-	HGNC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.2166C>T	22.37:g.20780112G>A		Somatic	0	13	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	3	75.00	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom	p.R717	ENST00000266214.5	37	c.2151	CCDS13779.1	22																																																																																			-	NULL		0.786	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	SCARF2	protein_coding	OTTHUMT00000320047.1	G		-		20780112	-1	no_errors	ENST00000405555	ensembl	human	known	74_37	silent	SNP	0.100	A
L1CAM	3897	genome.wustl.edu	37	X	153135044	153135044	+	Missense_Mutation	SNP	T	T	C			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chrX:153135044T>C	ENST00000370060.1	-	11	1387	c.1198A>G	c.(1198-1200)Atg>Gtg	p.M400V	L1CAM_ENST00000538883.1_Missense_Mutation_p.M402V|L1CAM_ENST00000543994.1_Missense_Mutation_p.M402V|L1CAM_ENST00000370057.3_Missense_Mutation_p.M400V|L1CAM_ENST00000361981.3_Missense_Mutation_p.M395V|L1CAM_ENST00000361699.4_Missense_Mutation_p.M400V|L1CAM_ENST00000370055.1_Missense_Mutation_p.M395V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	400	Ig-like C2-type 4.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGGTCACCATTGTGTCACTG	0.597																																																	0			GRCh37	CD011871	L1CAM	D		ENSG00000198910						104.0	82.0	90.0					X																	153135044		2203	4299	6502	L1CAM	SO:0001583	missense	0			-	HGNC	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1198A>G	X.37:g.153135044T>C	ENSP00000359077:p.Met400Val	Somatic	0	65	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	82	24.55	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.M402V	ENST00000370060.1	37	c.1204	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	T	14.99	2.701181	0.48307	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21;-0.21;-0.21	5.6	5.6	0.85130	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.242826	0.37906	N	0.001897	T	0.45357	0.1338	N	0.19112	0.55	0.31089	N	0.711078	B;B;B	0.34015	0.096;0.435;0.117	B;B;B	0.28305	0.011;0.088;0.018	T	0.55623	-0.8112	10	0.72032	D	0.01	.	4.5092	0.11903	0.1749:0.0911:0.0:0.7339	.	395;400;400	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	400;402;400;402;395;395;400	ENSP00000359077:M400V;ENSP00000438430:M402V;ENSP00000359074:M400V;ENSP00000439645:M402V;ENSP00000354712:M395V;ENSP00000359072:M395V;ENSP00000355380:M400V	ENSP00000355380:M400V	M	-	1	0	L1CAM	152788238	0.616000	0.27035	0.921000	0.36526	0.945000	0.59286	1.403000	0.34612	1.881000	0.54492	0.393000	0.25936	ATG	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.597	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	protein_coding	OTTHUMT00000061094.2	T	NM_024003	-		153135044	-1	no_errors	ENST00000543994	ensembl	human	known	74_37	missense	SNP	0.947	C
DNM1P47	100216544	genome.wustl.edu	37	15	102298070	102298070	+	RNA	SNP	C	C	T	rs199907203		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr15:102298070C>T	ENST00000561463.1	+	0	6116									DNM1 pseudogene 47																		GGCGTGGGAACGAGAAGACAC	0.592																																																	0								ENSG00000259660																																			DNM1P47			0			-	HGNC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102298070C>T		Somatic	0	28	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	10	50.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			-	-		0.592	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	C	NG_009149	rs199907203		102298070	+1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	SNP	0.995	T
AOX1	316	genome.wustl.edu	37	2	201521613	201521613	+	Missense_Mutation	SNP	C	C	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr2:201521613C>T	ENST00000374700.2	+	27	3365	c.3124C>T	c.(3124-3126)Cac>Tac	p.H1042Y	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	1042					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GCTGGTCACTCACGGTGGAAT	0.423																																																	0								ENSG00000138356						108.0	100.0	103.0					2																	201521613		2203	4300	6503	AOX1	SO:0001583	missense	0			-	HGNC	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.3124C>T	2.37:g.201521613C>T	ENSP00000363832:p.His1042Tyr	Somatic	0	67	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	41	31.67	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase	p.H1042Y	ENST00000374700.2	37	c.3124	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725876	0.89298	.	.	ENSG00000138356	ENST00000374700	T	0.38560	1.13	5.41	5.41	0.78517	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (3);	0.000000	0.85682	D	0.000000	T	0.79776	0.4504	H	0.98487	4.245	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87341	0.2331	10	0.87932	D	0	-37.6267	19.3939	0.94598	0.0:1.0:0.0:0.0	.	1042	Q06278	ADO_HUMAN	Y	1042	ENSP00000363832:H1042Y	ENSP00000363832:H1042Y	H	+	1	0	AOX1	201229858	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.559000	0.73946	2.816000	0.96949	0.561000	0.74099	CAC	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase		0.423	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	protein_coding	OTTHUMT00000335844.1	C	NM_001159	-		201521613	+1	no_errors	ENST00000374700	ensembl	human	known	74_37	missense	SNP	1.000	T
AC021818.1	0	genome.wustl.edu	37	15	70077755	70077756	+	RNA	INS	-	-	TGTGTG	rs140198807|rs57525529		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr15:70077755_70077756insTGTGTG	ENST00000401139.1	-	0	87_88																											ctcataggatgtgtgtgtgtgt	0.426																																																	0								ENSG00000215958																																			AC021818.1			0				Clone_based_ensembl_gene																													15.37:g.70077756_70077761dupTGTGTG		Somatic	NA	NA	NA		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000401139.1	37	NULL		15																																																																																			-	-		0.426	AC021818.1-201	NOVEL	basic	miRNA	ENSG00000215958	miRNA		-				70077756	-1	no_errors	ENST00000401139	ensembl	human	novel	74_37	rna	INS	0.176:0.181	TGTGTG
FUNDC2P2	388965	genome.wustl.edu	37	2	84517888	84517888	+	RNA	SNP	G	G	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr2:84517888G>A	ENST00000331369.5	+	0	82									FUN14 domain containing 2 pseudogene 2																		GCGCCACTCCGCAGCGTAACC	0.632																																																	0								ENSG00000182814																																			FUNDC2P2			0			-	HGNC			2p11.2	2010-03-12			ENSG00000182814	ENSG00000182814			17247	pseudogene	pseudogene							Standard	NR_003663		Approved		uc010ffz.1		OTTHUMG00000152875		2.37:g.84517888G>A		Somatic	0	38	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000331369.5	37	NULL		2																																																																																			-	-		0.632	FUNDC2P2-001	KNOWN	basic	processed_transcript	FUNDC2P2	pseudogene	OTTHUMT00000333681.1	G	NR_003663	-		84517888	+1	no_errors	ENST00000331369	ensembl	human	known	74_37	rna	SNP	0.001	A
TULP4	56995	genome.wustl.edu	37	6	158924151	158924151	+	Silent	SNP	T	T	A			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr6:158924151T>A	ENST00000367097.3	+	13	4813	c.3456T>A	c.(3454-3456)tcT>tcA	p.S1152S	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1152					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AACTGTCCTCTCTGATGCTGA	0.582																																																	0								ENSG00000130338						87.0	81.0	83.0					6																	158924151		2203	4300	6503	TULP4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3456T>A	6.37:g.158924151T>A		Somatic	0	57	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1152	ENST00000367097.3	37	c.3456	CCDS34561.1	6																																																																																			-	NULL		0.582	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	protein_coding	OTTHUMT00000042869.1	T	NM_020245	-		158924151	+1	no_errors	ENST00000367097	ensembl	human	known	74_37	silent	SNP	1.000	A
RPL7	6129	genome.wustl.edu	37	8	74203808	74203808	+	Missense_Mutation	SNP	C	C	T			TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr8:74203808C>T	ENST00000352983.2	-	5	802	c.517G>A	c.(517-519)Gct>Act	p.A173T	RPL7_ENST00000396465.1_Missense_Mutation_p.A133T|RPL7_ENST00000396467.1_Missense_Mutation_p.A133T|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_Missense_Mutation_p.A133T			P18124	RL7_HUMAN	ribosomal protein L7	173				A -> S (in Ref. 2; AAA03081). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			GCAATCAAAGCGTTATCTGTC	0.393																																																	0								ENSG00000147604						75.0	69.0	71.0					8																	74203808		2202	4299	6501	RPL7	SO:0001583	missense	0			-	HGNC	L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.517G>A	8.37:g.74203808C>T	ENSP00000339795:p.Ala173Thr	Somatic	0	55	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	46	20.69	A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ribosomal_L30_N,pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk	p.A173T	ENST00000352983.2	37	c.517	CCDS6212.1	8	.	.	.	.	.	.	.	.	.	.	C	0.687	-0.795932	0.02862	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465	.	.	.	5.47	-10.9	0.00192	Ribosomal protein L30, ferredoxin-like fold domain (1);	0.490245	0.20181	U	0.097507	T	0.15176	0.0366	N	0.17922	0.545	0.09310	N	1	B	0.14805	0.011	B	0.08055	0.003	T	0.25847	-1.0120	9	0.10111	T	0.7	.	5.9374	0.19173	0.5275:0.2864:0.0558:0.1303	.	173	P18124	RL7_HUMAN	T	133;173;133;133	.	ENSP00000339795:A173T	A	-	1	0	RPL7	74366362	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.609000	0.00415	-4.846000	0.00029	-0.895000	0.02911	GCT	-	superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk		0.393	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7	protein_coding	OTTHUMT00000259287.1	C	NM_000971	-		74203808	-1	no_errors	ENST00000352983	ensembl	human	known	74_37	missense	SNP	0.000	T
TP53	7157	genome.wustl.edu	37	17	7578211	7578211	+	Missense_Mutation	SNP	C	C	G	rs587778720		TCGA-IE-A4EJ-01A-11D-A24N-09	TCGA-IE-A4EJ-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a097f74-2fe0-4c33-93cc-2ec39b24c839	8eab9939-2bfb-45c0-9a2d-57ea334820f8	g.chr17:7578211C>G	ENST00000269305.4	-	6	827	c.638G>C	c.(637-639)cGa>cCa	p.R213P	TP53_ENST00000420246.2_Missense_Mutation_p.R213P|TP53_ENST00000455263.2_Missense_Mutation_p.R213P|TP53_ENST00000445888.2_Missense_Mutation_p.R213P|TP53_ENST00000359597.4_Missense_Mutation_p.R213P|TP53_ENST00000413465.2_Missense_Mutation_p.R213P|TP53_ENST00000574684.1_Intron	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	CACACTATGTCGAAAAGTGTT	0.532		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"""	110	Substitution - Missense(85)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Complex - compound substitution(1)	prostate(15)|large_intestine(14)|urinary_tract(9)|liver(9)|haematopoietic_and_lymphoid_tissue(8)|biliary_tract(6)|stomach(6)|oesophagus(6)|kidney(5)|lung(5)|central_nervous_system(4)|ovary(4)|pancreas(4)|bone(4)|upper_aerodigestive_tract(3)|soft_tissue(2)|eye(2)|vulva(1)|endometrium(1)|skin(1)|breast(1)	GRCh37	CM004906|CM022474	TP53	M		ENSG00000141510						132.0	118.0	122.0					17																	7578211		2203	4300	6503	TP53	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;	-	HGNC	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.638G>C	17.37:g.7578211C>G	ENSP00000269305:p.Arg213Pro	Somatic	0	59	0.00		0.5344393513186448	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	23	61.02	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	NA	NA	NA	NA	NA	NA	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.R213P	ENST00000269305.4	37	c.638	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.540259	0.96474	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	4.32	0.51571	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057335	0.64402	D	0.000003	D	0.99871	0.9939	M	0.92507	3.315	0.54753	D	0.99998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;0.999;0.998;1.0	D	0.96662	0.9490	10	0.87932	D	0	-7.5444	11.7807	0.52013	0.0:0.9141:0.0:0.0859	.	174;213;213;120;213;213;213	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	213;213;213;213;213;213;202;120;81;120;81	ENSP00000410739:R213P;ENSP00000352610:R213P;ENSP00000269305:R213P;ENSP00000398846:R213P;ENSP00000391127:R213P;ENSP00000391478:R213P;ENSP00000425104:R81P;ENSP00000423862:R120P	ENSP00000269305:R213P	R	-	2	0	TP53	7518936	0.996000	0.38824	0.185000	0.23176	0.961000	0.63080	7.775000	0.85489	1.367000	0.46095	0.563000	0.77884	CGA	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7578211	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	0.935	G
