#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCB4	5244	genome.wustl.edu	37	7	87060834	87060834	+	Silent	SNP	C	C	T	rs143617209		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr7:87060834C>T	ENST00000265723.4	-	15	1890	c.1779G>A	c.(1777-1779)acG>acA	p.T593T	ABCB4_ENST00000545634.1_Silent_p.T593T|ABCB4_ENST00000453593.1_Silent_p.T593T|ABCB4_ENST00000359206.3_Silent_p.T593T|ABCB4_ENST00000358400.3_Silent_p.T593T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	593	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)	p.T593T(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	CATTTCGGACCGTAGACAGTC	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											203.0	177.0	186.0					7																	87060834		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1779G>A	7.37:g.87060834C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.T593	ENST00000265723.4	37	c.1779	CCDS5606.1	7																																																																																			ABCB4	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000005471		0.488	ABCB4-002	KNOWN	basic|CCDS	protein_coding	ABCB4	HGNC	protein_coding	OTTHUMT00000336083.1	188	0.00	0	C	NM_000443		87060834	87060834	-1	no_errors	ENST00000265723	ensembl	human	known	69_37n	silent	29	57.97	40	SNP	0.700	T
ACTR2	10097	genome.wustl.edu	37	2	65480995	65480995	+	Silent	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr2:65480995C>T	ENST00000260641.5	+	5	739	c.582C>T	c.(580-582)atC>atT	p.I194I	ACTR2_ENST00000377982.4_Silent_p.I199I|ACTR2_ENST00000542850.1_Silent_p.I139I	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	194					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)	p.I194I(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						GATATCTTATCAAGGTAAGTG	0.358																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											81.0	77.0	79.0					2																	65480995		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.582C>T	2.37:g.65480995C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.I199	ENST00000260641.5	37	c.597	CCDS1881.1	2																																																																																			ACTR2	-	pfam_Actin-like,smart_Actin-like	ENSG00000138071		0.358	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR2	HGNC	protein_coding	OTTHUMT00000251730.1	230	0.00	0	C	NM_001005386		65480995	65480995	+1	no_errors	ENST00000377982	ensembl	human	known	69_37n	silent	174	13.00	26	SNP	1.000	T
ADAMTSL3	57188	genome.wustl.edu	37	15	84611516	84611516	+	Silent	SNP	C	C	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr15:84611516C>A	ENST00000286744.5	+	18	2510	c.2286C>A	c.(2284-2286)ggC>ggA	p.G762G	ADAMTSL3_ENST00000567476.1_Silent_p.G762G	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	762						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G762G(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCCCTCCTGGCTGGCACATTG	0.572																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											37.0	39.0	38.0					15																	84611516		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2286C>A	15.37:g.84611516C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A1A566|A1A567|Q9ULI7	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.G762	ENST00000286744.5	37	c.2286	CCDS10326.1	15																																																																																			ADAMTSL3	-	smart_Thrombospondin_1_rpt	ENSG00000156218		0.572	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	245	0.00	0	C	NM_207517		84611516	84611516	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	silent	81	43.75	63	SNP	0.650	A
ALDH1L2	160428	genome.wustl.edu	37	12	105467686	105467686	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr12:105467686A>G	ENST00000258494.9	-	2	286	c.146T>C	c.(145-147)gTa>gCa	p.V49A	ALDH1L2_ENST00000424857.2_Missense_Mutation_p.V49A|RP11-61E11.1_ENST00000547750.1_RNA	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	49	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.V49A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAACACCCCTACTACTCGGTG	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											163.0	156.0	158.0					12																	105467686		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.146T>C	12.37:g.105467686A>G	ENSP00000258494:p.Val49Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like	p.V49A	ENST00000258494.9	37	c.146	CCDS31891.1	12	.	.	.	.	.	.	.	.	.	.	A	26.8	4.768037	0.90020	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.76316	-1.01;-1.01	5.31	5.31	0.75309	Formyl transferase, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86830	0.6027	M	0.71871	2.18	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.88465	0.3058	10	0.87932	D	0	.	15.5608	0.76244	1.0:0.0:0.0:0.0	.	49	Q3SY69	AL1L2_HUMAN	A	49	ENSP00000258494:V49A;ENSP00000389608:V49A	ENSP00000258494:V49A	V	-	2	0	ALDH1L2	103991816	1.000000	0.71417	0.976000	0.42696	0.996000	0.88848	9.339000	0.96797	2.131000	0.65755	0.533000	0.62120	GTA	ALDH1L2	-	pfam_Formyl_transf_N,superfamily_Formyl_transf_N,pirsf_10_FTHF_DH	ENSG00000136010		0.493	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1L2	HGNC	protein_coding	OTTHUMT00000406098.1	229	0.00	0	A	XM_090294		105467686	105467686	-1	no_errors	ENST00000258494	ensembl	human	known	69_37n	missense	167	29.11	69	SNP	1.000	G
ALDOA	226	genome.wustl.edu	37	16	30081176	30081176	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr16:30081176G>C	ENST00000566897.1	+	11	1977	c.825G>C	c.(823-825)caG>caC	p.Q275H	ALDOA_ENST00000564546.1_Missense_Mutation_p.Q275H|ALDOA_ENST00000412304.2_Missense_Mutation_p.Q275H|ALDOA_ENST00000564595.2_Missense_Mutation_p.Q329H|ALDOA_ENST00000338110.5_Missense_Mutation_p.Q275H|ALDOA_ENST00000569798.1_Missense_Mutation_p.Q275H|ALDOA_ENST00000395248.1_Missense_Mutation_p.Q329H|ALDOA_ENST00000569545.1_Missense_Mutation_p.Q275H|ALDOA_ENST00000563060.2_Missense_Mutation_p.Q275H|ALDOA_ENST00000395240.3_Missense_Mutation_p.Q279H			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	275					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)	p.Q275H(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CTGGAGGCCAGAGTGAGGAGG	0.627																																						dbGAP											1	Substitution - Missense(1)	breast(1)											56.0	55.0	55.0					16																	30081176		2197	4300	6497	-	-	-	SO:0001583	missense	0			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.825G>C	16.37:g.30081176G>C	ENSP00000455724:p.Gln275His	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Missense_Mutation	SNP	pfam_Aldolase_I	p.Q275H	ENST00000566897.1	37	c.825	CCDS10668.1	16	.	.	.	.	.	.	.	.	.	.	G	27.2	4.806517	0.90623	.	.	ENSG00000149925	ENST00000395248;ENST00000338110;ENST00000412304;ENST00000395240	D;D;D	0.87103	-2.21;-2.21;-2.21	5.91	5.91	0.95273	Aldolase-type TIM barrel (1);	0.053487	0.85682	D	0.000000	D	0.95188	0.8440	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.95524	0.8597	10	0.87932	D	0	.	19.0678	0.93119	0.0:0.0:1.0:0.0	.	275	P04075	ALDOA_HUMAN	H	329;275;275;275	ENSP00000378669:Q329H;ENSP00000336927:Q275H;ENSP00000400452:Q275H	ENSP00000336927:Q275H	Q	+	3	2	ALDOA	29988677	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.706000	0.98722	2.813000	0.96785	0.655000	0.94253	CAG	ALDOA	-	pfam_Aldolase_I	ENSG00000149925		0.627	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	ALDOA	HGNC	protein_coding	OTTHUMT00000435360.1	41	0.00	0	G	NM_000034		30081176	30081176	+1	no_errors	ENST00000338110	ensembl	human	known	69_37n	missense	26	31.58	12	SNP	1.000	C
ALMS1P	200420	genome.wustl.edu	37	2	73899536	73899536	+	RNA	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr2:73899536C>G	ENST00000450720.1	+	0	408					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												ACTTCTTGGTCAGAAGAAAAA	0.413																																						dbGAP											0													164.0	135.0	144.0					2																	73899536		692	1591	2283	-	-	-			0			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73899536C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-	ENSG00000163016		0.413	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	194	0.00	0	C	NR_003683		73899536	73899536	+1	no_errors	ENST00000450720	ensembl	human	known	69_37n	rna	151	17.93	33	SNP	1.000	G
ANKRD18B	441459	genome.wustl.edu	37	9	33533508	33533508	+	Silent	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:33533508C>T	ENST00000290943.6	+	4	663	c.567C>T	c.(565-567)aaC>aaT	p.N189N		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	189								p.N189N(1)		NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						TATTGAAGAACCAGGCAAATA	0.333																																						dbGAP											1	Substitution - coding silent(1)	breast(1)																																								-	-	-	SO:0001819	synonymous_variant	0					9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.567C>T	9.37:g.33533508C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N189	ENST00000290943.6	37	c.567		9																																																																																			ANKRD18B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000230453		0.333	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	ANKRD18B	HGNC	protein_coding	OTTHUMT00000313729.2	137	0.00	0	C	XM_001718334		33533508	33533508	+1	no_errors	ENST00000290943	ensembl	human	known	69_37n	silent	74	14.94	13	SNP	0.001	T
ANKRD30BL	554226	genome.wustl.edu	37	2	133015505	133015505	+	5'UTR	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr2:133015505G>A	ENST00000470729.1	-	0	37				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GAGGCAGAACGGTAGCCCCTC	0.687																																						dbGAP											0													36.0	41.0	39.0					2																	133015505		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-1388C>T	2.37:g.133015505G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.687	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	29	0.00	0	G	NR_027019		133015505	133015505	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	27	15.62	5	SNP	0.040	A
AOX1	316	genome.wustl.edu	37	2	201499591	201499591	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr2:201499591C>G	ENST00000374700.2	+	21	2540	c.2299C>G	c.(2299-2301)Caa>Gaa	p.Q767E	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	767					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)	p.Q767E(1)		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)	GGGAGAGGATCAAGAAATGGA	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	118.0	120.0					2																	201499591		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.2299C>G	2.37:g.201499591C>G	ENSP00000363832:p.Gln767Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Missense_Mutation	SNP	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.Q767E	ENST00000374700.2	37	c.2299	CCDS33360.1	2	.	.	.	.	.	.	.	.	.	.	C	12.37	1.917714	0.33815	.	.	ENSG00000138356	ENST00000374700	T	0.39997	1.05	5.41	3.43	0.39272	Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding (2);	0.627427	0.16624	N	0.206351	T	0.25938	0.0632	N	0.17474	0.49	0.20563	N	0.999886	B	0.09022	0.002	B	0.19946	0.027	T	0.14062	-1.0486	10	0.45353	T	0.12	-16.2671	7.7016	0.28625	0.3414:0.536:0.1225:0.0	.	767	Q06278	ADO_HUMAN	E	767	ENSP00000363832:Q767E	ENSP00000363832:Q767E	Q	+	1	0	AOX1	201207836	1.000000	0.71417	0.951000	0.38953	0.971000	0.66376	3.012000	0.49575	1.476000	0.48215	0.591000	0.81541	CAA	AOX1	-	pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase	ENSG00000138356		0.413	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOX1	HGNC	protein_coding	OTTHUMT00000335844.1	140	0.00	0	C	NM_001159		201499591	201499591	+1	no_errors	ENST00000374700	ensembl	human	known	69_37n	missense	93	11.43	12	SNP	0.644	G
ASAP1	50807	genome.wustl.edu	37	8	131191529	131191529	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr8:131191529A>C	ENST00000518721.1	-	9	954	c.727T>G	c.(727-729)Tat>Gat	p.Y243D	ASAP1_ENST00000357668.1_Missense_Mutation_p.Y243D	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	243					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.Y243D(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCATGGTAATACTTTATAAGA	0.348																																						dbGAP											1	Substitution - Missense(1)	breast(1)											167.0	152.0	157.0					8																	131191529		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.727T>G	8.37:g.131191529A>C	ENSP00000429900:p.Tyr243Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,prints_ArfGAP,prints_p67phox,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP	p.Y243D	ENST00000518721.1	37	c.727	CCDS6362.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	26.6|26.6	4.750624|4.750624	0.89753|0.89753	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|T;T;T	.|0.05139	.|3.49;3.49;3.49	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24160|0.24160	0.0585|0.0585	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.985;0.985;1.0	.|P;P;D	.|0.85130	.|0.622;0.622;0.997	T|T	0.00254|0.00254	-1.1874|-1.1874	5|10	.|0.87932	.|D	.|0	.|.	15.298|15.298	0.73925|0.73925	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|243;243;243	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	G|D	60|243;243;243;213	.|ENSP00000350297:Y243D;ENSP00000429900:Y243D;ENSP00000430588:Y213D	.|ENSP00000344591:Y243D	V|Y	-|-	2|1	0|0	ASAP1|ASAP1	131260711|131260711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	8.864000|8.864000	0.92294|0.92294	2.199000|2.199000	0.70637|0.70637	0.519000|0.519000	0.50382|0.50382	GTA|TAT	ASAP1	-	NULL	ENSG00000153317		0.348	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAP1	HGNC	protein_coding	OTTHUMT00000380170.1	311	0.00	0	A	NM_018482		131191529	131191529	-1	no_errors	ENST00000357668	ensembl	human	known	69_37n	missense	246	25.38	84	SNP	1.000	C
ASPM	259266	genome.wustl.edu	37	1	197065231	197065231	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:197065231G>C	ENST00000367409.4	-	19	9140	c.8884C>G	c.(8884-8886)Caa>Gaa	p.Q2962E	ASPM_ENST00000367408.1_Missense_Mutation_p.Q627E|ASPM_ENST00000294732.7_Missense_Mutation_p.Q1377E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2962	IQ 34. {ECO:0000255|PROSITE- ProRule:PRU00116}.|IQ 35. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.Q2962E(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TACCAGGCTTGAATCTTGCAG	0.333																																						dbGAP											1	Substitution - Missense(1)	breast(1)											176.0	196.0	189.0					1																	197065231		2203	4299	6502	-	-	-	SO:0001583	missense	0			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8884C>G	1.37:g.197065231G>C	ENSP00000356379:p.Gln2962Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.Q2962E	ENST00000367409.4	37	c.8884	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.049995	0.75846	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	D;D;D	0.86297	-2.1;-2.1;-2.1	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	D	0.93605	0.7958	M	0.79805	2.47	0.43330	D	0.995362	D;D;D	0.71674	0.997;0.997;0.998	D;D;D	0.85130	0.997;0.994;0.996	D	0.94299	0.7535	10	0.72032	D	0.01	.	16.9368	0.86205	0.0:0.0:1.0:0.0	.	948;1377;2962	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	E	2962;1377;627;948	ENSP00000356379:Q2962E;ENSP00000294732:Q1377E;ENSP00000356378:Q627E	ENSP00000294732:Q1377E	Q	-	1	0	ASPM	195331854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.681000	0.68175	2.418000	0.82041	0.563000	0.77884	CAA	ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	ENSG00000066279		0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	260	0.00	0	G	NM_018136		197065231	197065231	-1	no_errors	ENST00000367409	ensembl	human	known	69_37n	missense	193	10.19	22	SNP	1.000	C
ATP10B	23120	genome.wustl.edu	37	5	160115005	160115005	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr5:160115005T>G	ENST00000327245.5	-	5	923	c.77A>C	c.(76-78)gAa>gCa	p.E26A	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	26					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.E26A(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGTGTGGTTTCCGATGGACA	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											98.0	100.0	99.0					5																	160115005		2063	4223	6286	-	-	-	SO:0001583	missense	0			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.77A>C	5.37:g.160115005T>G	ENSP00000313600:p.Glu26Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.E26A	ENST00000327245.5	37	c.77	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	T	10.64	1.406364	0.25378	.	.	ENSG00000118322	ENST00000327245	T	0.47869	0.83	5.26	5.26	0.73747	.	0.079027	0.51477	D	0.000100	T	0.58104	0.2099	L	0.59436	1.845	0.42100	D	0.991338	B;B;D	0.67145	0.217;0.038;0.996	B;B;P	0.55923	0.057;0.084;0.787	T	0.59386	-0.7464	9	.	.	.	.	14.3753	0.66869	0.0:0.0:0.0:1.0	.	70;26;26	B4DHG1;O94823-2;O94823	.;.;AT10B_HUMAN	A	26	ENSP00000313600:E26A	.	E	-	2	0	ATP10B	160047583	1.000000	0.71417	0.959000	0.39883	0.017000	0.09413	6.008000	0.70739	1.992000	0.58205	0.383000	0.25322	GAA	ATP10B	-	NULL	ENSG00000118322		0.547	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	202	0.00	0	T	NM_025153		160115005	160115005	-1	no_errors	ENST00000327245	ensembl	human	known	69_37n	missense	109	12.80	16	SNP	1.000	G
ATP1A2	477	genome.wustl.edu	37	1	160099959	160099959	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:160099959G>A	ENST00000361216.3	+	12	1618	c.1529G>A	c.(1528-1530)cGc>cAc	p.R510H	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R510H	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	510					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|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)	p.R510H(2)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCCCAGAGCGCATTCTGGAC	0.592																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|breast(1)											78.0	77.0	78.0					1																	160099959		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1529G>A	1.37:g.160099959G>A	ENSP00000354490:p.Arg510His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.R510H	ENST00000361216.3	37	c.1529	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.119607|5.119607	0.94385|0.94385	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|T;T	.|0.80480	.|-1.38;-1.38	4.61|4.61	4.61|4.61	0.57282|0.57282	.|ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88422|0.88422	0.6432|0.6432	M|M	0.81497|0.81497	2.545|2.545	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.999	D|D	0.90211|0.90211	0.4264|0.4264	5|10	.|0.87932	.|D	.|0	.|.	16.564|16.564	0.84574|0.84574	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|510;410;510	.|B1AKY9;F5GXJ7;P50993	.|.;.;AT1A2_HUMAN	T|H	221|510;510;213	.|ENSP00000354490:R510H;ENSP00000376066:R510H	.|ENSP00000354490:R510H	A|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158366583|158366583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.852000|9.852000	0.99516|0.99516	2.283000|2.283000	0.76528|0.76528	0.511000|0.511000	0.50034|0.50034	GCA|CGC	ATP1A2	-	pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_cation-ex_asu_euk	ENSG00000018625		0.592	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	69	0.00	0	G	NM_000702		160099959	160099959	+1	no_errors	ENST00000361216	ensembl	human	known	69_37n	missense	104	11.86	14	SNP	1.000	A
BACE2	25825	genome.wustl.edu	37	21	42609558	42609558	+	Missense_Mutation	SNP	C	C	G	rs138254280		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr21:42609558C>G	ENST00000330333.6	+	3	983	c.520C>G	c.(520-522)Ctt>Gtt	p.L174V	BACE2_ENST00000328735.6_Missense_Mutation_p.L174V|BACE2_ENST00000347667.5_Missense_Mutation_p.L174V|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	174					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TACTTCTTTTCTTGTCAACAT	0.453																																						dbGAP											0													111.0	94.0	99.0					21																	42609558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.520C>G	21.37:g.42609558C>G	ENSP00000332979:p.Leu174Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1	p.L174V	ENST00000330333.6	37	c.520	CCDS13668.1	21	.	.	.	.	.	.	.	.	.	.	C	9.978	1.227401	0.22542	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.41758	0.99;0.99;0.99	5.85	2.86	0.33363	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.421766	0.25027	N	0.033704	T	0.17874	0.0429	N	0.05158	-0.105	0.09310	N	1	B;B;B	0.25850	0.002;0.136;0.011	B;B;B	0.22880	0.004;0.042;0.008	T	0.11891	-1.0569	10	0.28530	T	0.3	.	5.2365	0.15448	0.1414:0.5353:0.246:0.0773	.	174;174;174	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	V	174;174;174;79	ENSP00000332979:L174V;ENSP00000327528:L174V;ENSP00000333854:L174V	ENSP00000333854:L174V	L	+	1	0	BACE2	41531428	0.000000	0.05858	0.014000	0.15608	0.786000	0.44442	0.131000	0.15870	0.781000	0.33589	0.585000	0.79938	CTT	BACE2	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE	ENSG00000182240		0.453	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE2	HGNC	protein_coding	OTTHUMT00000195056.1	77	0.00	0	C			42609558	42609558	+1	no_errors	ENST00000330333	ensembl	human	known	69_37n	missense	42	23.21	13	SNP	0.005	G
BCORL1	63035	genome.wustl.edu	37	X	129147771	129147771	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chrX:129147771G>A	ENST00000218147.7	+	4	1220	c.1023G>A	c.(1021-1023)atG>atA	p.M341I	BCORL1_ENST00000303743.5_Missense_Mutation_p.M341I|BCORL1_ENST00000540052.1_Missense_Mutation_p.M341I|BCORL1_ENST00000359304.2_Missense_Mutation_p.M341I			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	341	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.M341I(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						tggctcccatgccagcatcca	0.667																																						dbGAP											1	Substitution - Missense(1)	breast(1)											37.0	34.0	35.0					X																	129147771		2106	4146	6252	-	-	-	SO:0001583	missense	0			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1023G>A	X.37:g.129147771G>A	ENSP00000218147:p.Met341Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M341I	ENST00000218147.7	37	c.1023	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877376	0.33162	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.39592	1.08;1.48;1.07;1.08	3.78	2.87	0.33458	.	0.386788	0.18865	N	0.129008	T	0.18882	0.0453	N	0.08118	0	0.22666	N	0.998873	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17198	-1.0377	9	.	.	.	-2.2521	6.2895	0.21051	0.1017:0.0:0.7117:0.1866	.	341;341	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	I	341	ENSP00000218147:M341I;ENSP00000307541:M341I;ENSP00000352253:M341I;ENSP00000437775:M341I	.	M	+	3	0	BCORL1	128975452	0.784000	0.28713	0.897000	0.35233	0.762000	0.43233	0.483000	0.22292	0.903000	0.36546	0.523000	0.50628	ATG	BCORL1	-	NULL	ENSG00000085185		0.667	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	75	0.00	0	G	NM_021946		129147771	129147771	+1	no_errors	ENST00000303743	ensembl	human	known	69_37n	missense	55	19.12	13	SNP	0.916	A
GPR124	25960	genome.wustl.edu	37	8	37702391	37702391	+	IGR	SNP	C	C	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr8:37702391C>A	ENST00000412232.2	+	0	5651				BRF2_ENST00000520601.1_3'UTR|GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000220659.6_Missense_Mutation_p.V293L	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124						central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V293L(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGCTTCACCACAGACCGTTTG	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											79.0	67.0	71.0					8																	37702391		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182		8.37:g.37702391C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB	p.V293L	ENST00000412232.2	37	c.877	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	C	32	5.163382	0.94727	.	.	ENSG00000104221	ENST00000220659;ENST00000545765	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.69079	0.3071	M	0.63843	1.955	0.80722	D	1	D	0.53312	0.959	P	0.49887	0.625	T	0.66432	-0.5925	9	0.31617	T	0.26	-13.3613	19.3136	0.94202	0.0:1.0:0.0:0.0	.	293	Q9HAW0	BRF2_HUMAN	L	293;270	.	ENSP00000220659:V293L	V	-	1	0	BRF2	37821549	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	5.110000	0.64622	2.659000	0.90383	0.655000	0.94253	GTG	BRF2	-	superfamily_Cyclin-like	ENSG00000104221		0.622	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRF2	HGNC	protein_coding	OTTHUMT00000343331.2	24	0.00	0	C			37702391	37702391	-1	no_errors	ENST00000220659	ensembl	human	known	69_37n	missense	13	58.06	18	SNP	1.000	A
C17orf104	284071	genome.wustl.edu	37	17	42744610	42744610	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:42744610T>C	ENST00000409122.2	+	5	1473	c.1331T>C	c.(1330-1332)tTt>tCt	p.F444S	C17orf104_ENST00000359945.3_Missense_Mutation_p.F444S|C17orf104_ENST00000409464.1_Missense_Mutation_p.F278S	NM_001145080.2	NP_001138552.2	A2RUB1	CQ104_HUMAN	chromosome 17 open reading frame 104	444								p.F444S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						AAGCAACAGTTTGCTAAACCT	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											115.0	124.0	121.0					17																	42744610		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45703.1, CCDS45703.2	17q21.31	2009-09-08			ENSG00000180336	ENSG00000180336			26670	protein-coding gene	gene with protein product							Standard	NM_001145080		Approved	FLJ35848	uc002iha.3	A2RUB1	OTTHUMG00000153039	ENST00000409122.2:c.1331T>C	17.37:g.42744610T>C	ENSP00000386452:p.Phe444Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DXJ2|B5MD93|B9EGQ6|C4AM97|Q4G0Y1|Q8IVZ7|Q8NA45	Missense_Mutation	SNP	NULL	p.F444S	ENST00000409122.2	37	c.1331	CCDS45703.2	17	.	.	.	.	.	.	.	.	.	.	T	14.25	2.479564	0.44044	.	.	ENSG00000180336	ENST00000359945;ENST00000409122;ENST00000409464	T;T;T	0.34859	1.36;1.34;1.37	5.58	5.58	0.84498	.	0.091527	0.48286	D	0.000183	T	0.31888	0.0811	L	0.34521	1.04	0.34215	D	0.674706	P;P;P	0.46220	0.874;0.731;0.731	P;P;P	0.44359	0.447;0.447;0.447	T	0.51663	-0.8677	10	0.87932	D	0	-17.1203	10.5177	0.44900	0.1441:0.0:0.0:0.8559	.	444;444;278	A2RUB1-5;A2RUB1;A2RUB1-1	.;CQ104_HUMAN;.	S	444;444;278	ENSP00000353028:F444S;ENSP00000386452:F444S;ENSP00000386586:F278S	ENSP00000353028:F444S	F	+	2	0	C17orf104	40100136	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.929000	0.63455	2.243000	0.73865	0.528000	0.53228	TTT	C17orf104	-	NULL	ENSG00000180336		0.373	C17orf104-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf104	HGNC	protein_coding	OTTHUMT00000329171.2	50	0.00	0	T	NM_001145080		42744610	42744610	+1	no_errors	ENST00000409122	ensembl	human	known	69_37n	missense	14	53.33	16	SNP	1.000	C
CA11	770	genome.wustl.edu	37	19	49142645	49142645	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr19:49142645G>A	ENST00000084798.4	-	7	1391	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	DBP_ENST00000601104.1_5'Flank|DBP_ENST00000222122.5_5'Flank|SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	238						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)		p.Q238E(1)|p.Q238*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	AGAGAGCCCTGATAGGTGATG	0.562																																						dbGAP											2	Substitution - Missense(1)|Substitution - Nonsense(1)	lung(1)|breast(1)											69.0	70.0	69.0					19																	49142645		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.712C>T	19.37:g.49142645G>A	ENSP00000084798:p.Gln238*	Somatic		WXS	Illumina GAIIx	Phase_IV	O60596|Q6FHI1|Q9UEC4	Nonsense_Mutation	SNP	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	p.Q238*	ENST00000084798.4	37	c.712	CCDS12729.1	19	.	.	.	.	.	.	.	.	.	.	G	40	8.370200	0.98781	.	.	ENSG00000063180	ENST00000084798	.	.	.	3.22	2.13	0.27403	.	0.069138	0.56097	D	0.000021	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	8.2315	0.31601	0.0:0.2471:0.7529:0.0	.	.	.	.	X	238	.	ENSP00000084798:Q238X	Q	-	1	0	CA11	53834457	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.433000	0.52834	0.658000	0.30925	0.455000	0.32223	CAG	CA11	-	pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a	ENSG00000063180		0.562	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CA11	HGNC	protein_coding	OTTHUMT00000466172.1	188	0.00	0	G	NM_001217		49142645	49142645	-1	no_errors	ENST00000084798	ensembl	human	known	69_37n	nonsense	113	18.44	26	SNP	1.000	A
CAB39L	81617	genome.wustl.edu	37	13	49925033	49925033	+	Silent	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr13:49925033C>T	ENST00000355854.4	-	5	908	c.411G>A	c.(409-411)caG>caA	p.Q137Q	CAB39L_ENST00000409308.1_Silent_p.Q137Q|CAB39L_ENST00000347776.5_Silent_p.Q137Q|CAB39L_ENST00000410043.1_Silent_p.Q137Q|CAB39L_ENST00000409130.1_5'UTR	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	137					cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)		p.Q137Q(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		GTAAGGCAATCTGTGGGGCTT	0.338																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											89.0	86.0	87.0					13																	49925033		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022639	CCDS9416.2	13q14.11	2008-02-05			ENSG00000102547	ENSG00000102547			20290	protein-coding gene	gene with protein product		612175					Standard	NM_030925		Approved	bA103J18.3, FLJ12577, MO2L	uc001vcw.3	Q9H9S4	OTTHUMG00000016914	ENST00000355854.4:c.411G>A	13.37:g.49925033C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAW6|Q6WG71|Q96FG1|Q9BZ33	Silent	SNP	pfam_Mo25,superfamily_ARM-type_fold	p.Q137	ENST00000355854.4	37	c.411	CCDS9416.2	13																																																																																			CAB39L	-	pfam_Mo25,superfamily_ARM-type_fold	ENSG00000102547		0.338	CAB39L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAB39L	HGNC	protein_coding	OTTHUMT00000044908.3	85	0.00	0	C	NM_030925		49925033	49925033	-1	no_errors	ENST00000347776	ensembl	human	known	69_37n	silent	67	25.56	23	SNP	1.000	T
CDKN2A	1029	genome.wustl.edu	37	9	21970950	21970951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:21970950_21970951insC	ENST00000304494.5	-	2	677_678	c.407_408insG	c.(406-408)ggcfs	p.G136fs	CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.G85fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.G136fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.G136fs|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.G85fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	136					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.R128fs*12(3)|p.R128fs*9(1)|p.0(1)|p.A118fs*10(1)|p.G136fs*5(1)|p.G136D(1)|p.G136G(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCCTCTGGTGCCCCCCGCAGC	0.649		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												dbGAP											1337	Whole gene deletion(1316)|Unknown(13)|Deletion - Frameshift(6)|Substitution - Missense(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(165)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(35)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)																																								-	-	-	SO:0001589	frameshift_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.408dupG	9.37:g.21970956_21970956dupC	ENSP00000307101:p.Gly136fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	p.T137fs	ENST00000304494.5	37	c.408_407	CCDS6510.1	9																																																																																			CDKN2A	-	superfamily_Ankyrin_rpt-contain_dom	ENSG00000147889		0.649	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	50	0.00	0	-	NM_000077		21970950	21970951	-1	no_errors	ENST00000446177	ensembl	human	known	69_37n	frame_shift_ins	26	10.34	3	INS	0.021:0.000	C
CCIN	881	genome.wustl.edu	37	9	36170527	36170527	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:36170527A>G	ENST00000335119.2	+	1	1139	c.1028A>G	c.(1027-1029)aAg>aGg	p.K343R		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	343					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.K343R(1)		breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCAGGGCTGAAGACAGCCTGG	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											118.0	103.0	108.0					9																	36170527		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.1028A>G	9.37:g.36170527A>G	ENSP00000334996:p.Lys343Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BXG7	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.K343R	ENST00000335119.2	37	c.1028	CCDS6599.1	9	.	.	.	.	.	.	.	.	.	.	A	15.28	2.786145	0.49997	.	.	ENSG00000185972	ENST00000335119	T	0.42900	0.96	5.97	5.97	0.96955	Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000011	T	0.47930	0.1472	L	0.31664	0.95	0.32991	D	0.524957	D	0.57257	0.979	D	0.74023	0.982	T	0.48747	-0.9008	10	0.10636	T	0.68	.	12.8393	0.57793	1.0:0.0:0.0:0.0	.	343	Q13939	CALI_HUMAN	R	343	ENSP00000334996:K343R	ENSP00000334996:K343R	K	+	2	0	CCIN	36160527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.362000	0.66098	2.289000	0.77006	0.533000	0.62120	AAG	CCIN	-	pfam_Kelch_1,smart_Kelch_1	ENSG00000185972		0.572	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	138	0.00	0	A	NM_005893		36170527	36170527	+1	no_errors	ENST00000335119	ensembl	human	known	69_37n	missense	111	13.95	18	SNP	1.000	G
CHD8	57680	genome.wustl.edu	37	14	21862470	21862471	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr14:21862470_21862471GC>AT	ENST00000557364.1	-	31	5827_5828	c.5564_5565GC>AT	c.(5563-5565)cGC>cAT	p.R1855H	CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.R1576H|CHD8_ENST00000399982.2_Missense_Mutation_p.R1855H|SNORD9_ENST00000362566.1_RNA|SNORD8_ENST00000363915.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1855					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGCATACTTGGCGGCACATGGC	0.495																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.5564_5565delinsAT	14.37:g.21862470_21862471delinsAT	ENSP00000451601:p.Arg1855His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Silent|Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1855|p.R1855H	ENST00000557364.1	37	c.5565|c.5564	CCDS53885.1	14																																																																																			CHD8	-	NULL	ENSG00000100888		0.495	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	253|257	0.00	0	G|C	NM_020920		21862470|21862471	21862470|21862471	-1	no_errors	ENST00000399982	ensembl	human	known	69_37n	silent|missense	166	17.41|17.82	35|36	SNP	0.682|1.000	A|T
CIRBP	1153	genome.wustl.edu	37	19	1272368	1272368	+	Intron	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr19:1272368G>A	ENST00000588030.1	+	7	762				CIRBP_ENST00000587323.1_Missense_Mutation_p.V274M|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000444172.2_Missense_Mutation_p.V221M|CIRBP_ENST00000320936.5_Intron|CIRBP_ENST00000588090.1_Intron|CIRBP_ENST00000585630.1_Intron|CIRBP_ENST00000586472.1_Intron|CIRBP_ENST00000589235.1_Intron|CIRBP_ENST00000586773.1_Intron|CIRBP_ENST00000588230.1_Missense_Mutation_p.V274M|CIRBP_ENST00000587896.1_Missense_Mutation_p.V274M|CIRBP_ENST00000589686.1_Intron|C19orf24_ENST00000409293.4_5'Flank|CIRBP_ENST00000413636.2_Missense_Mutation_p.V240M|CIRBP_ENST00000589660.1_Intron|CIRBP_ENST00000591935.1_Intron|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000589710.1_Missense_Mutation_p.V274M			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein						mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCTCtggggtgaagctgcc	0.622																																						dbGAP											0													143.0	123.0	129.0					19																	1272368		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.503-58G>A	19.37:g.1272368G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT17|B4E2X2	Missense_Mutation	SNP	NULL	p.V221M	ENST00000588030.1	37	c.661	CCDS12059.1	19	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215793	0.58452	.	.	ENSG00000099622	ENST00000413636;ENST00000444172	T	0.73258	-0.73	3.67	2.62	0.31277	.	.	.	.	.	T	0.52757	0.1754	.	.	.	0.19300	N	0.999974	B;B	0.29378	0.243;0.062	B;B	0.24541	0.054;0.017	T	0.33033	-0.9884	7	.	.	.	.	8.3023	0.32021	0.1182:0.0:0.8818:0.0	.	240;274	B4E2X2;D6W5Y5	.;.	M	240;221	ENSP00000412831:V240M	.	V	+	1	0	CIRBP	1223368	1.000000	0.71417	0.009000	0.14445	0.007000	0.05969	2.733000	0.47360	0.651000	0.30788	-0.339000	0.08088	GTG	CIRBP	-	NULL	ENSG00000099622		0.622	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIRBP	HGNC	protein_coding	OTTHUMT00000449969.1	64	0.00	0	G	NM_001280		1272368	1272368	+1	no_errors	ENST00000444172	ensembl	human	known	69_37n	missense	51	27.14	19	SNP	0.794	A
CROCCP2	84809	genome.wustl.edu	37	1	16950638	16950638	+	lincRNA	SNP	C	C	T	rs12144513	byFrequency	TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:16950638C>T	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCTGAGCCCACAGCTAGGACG	0.657																																						dbGAP											0																																										-	-	-			0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16950638C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.657	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	27	0.00	0	C	NR_026752.1		16950638	16950638	-1	no_errors	ENST00000421700	ensembl	human	known	69_37n	rna	11	31.25	5	SNP	0.000	T
CNTN2	6900	genome.wustl.edu	37	1	205038689	205038689	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:205038689G>A	ENST00000331830.4	+	17	2480	c.2196G>A	c.(2194-2196)acG>acA	p.T732T		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	732	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)	p.T732T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCAACTGGACGGTAAGCTGCA	0.632																																					Melanoma(183;2548 2817 37099 41192)	dbGAP											1	Substitution - coding silent(1)	breast(1)											66.0	68.0	68.0					1																	205038689		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2196+1G>A	1.37:g.205038689G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	P78432|Q5T054	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T732	ENST00000331830.4	37	c.2196	CCDS1449.1	1																																																																																			CNTN2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000184144		0.632	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN2	HGNC	protein_coding	OTTHUMT00000090080.3	109	0.00	0	G	NM_005076	Silent	205038689	205038689	+1	no_errors	ENST00000331830	ensembl	human	known	69_37n	silent	103	11.97	14	SNP	1.000	A
DCLK3	85443	genome.wustl.edu	37	3	36779994	36779994	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr3:36779994G>A	ENST00000416516.2	-	2	647	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	53						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.R53C(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCCCACAGCGGTGGTCTCCT	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											75.0	78.0	77.0					3																	36779994		1943	4138	6081	-	-	-	SO:0001583	missense	0			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.157C>T	3.37:g.36779994G>A	ENSP00000394484:p.Arg53Cys	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R53C	ENST00000416516.2	37	c.157	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	G	8.213	0.800677	0.16397	.	.	ENSG00000163673	ENST00000416516	T	0.67523	-0.27	4.98	3.15	0.36227	.	.	.	.	.	T	0.42359	0.1199	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32052	-0.9921	9	0.66056	D	0.02	.	3.6048	0.08038	0.0793:0.2337:0.4285:0.2585	.	53	Q9C098	DCLK3_HUMAN	C	53	ENSP00000394484:R53C	ENSP00000394484:R53C	R	-	1	0	DCLK3	36754998	0.996000	0.38824	0.008000	0.14137	0.618000	0.37518	3.272000	0.51616	0.596000	0.29794	0.655000	0.94253	CGC	DCLK3	-	NULL	ENSG00000163673		0.622	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	180	0.00	0	G	XM_047355		36779994	36779994	-1	no_errors	ENST00000416516	ensembl	human	known	69_37n	missense	115	15.33	21	SNP	0.000	A
DDR2	4921	genome.wustl.edu	37	1	162746031	162746031	+	Silent	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:162746031G>A	ENST00000367922.3	+	17	2592	c.2154G>A	c.(2152-2154)gtG>gtA	p.V718V	DDR2_ENST00000367921.3_Silent_p.V718V|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	718	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V718V(1)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	ACTGTTTAGTGGGTAAGAACT	0.473																																					NSCLC(161;314 2006 8283 19651 23192)	dbGAP											1	Substitution - coding silent(1)	breast(1)											150.0	148.0	149.0					1																	162746031		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2154G>A	1.37:g.162746031G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z730	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V718	ENST00000367922.3	37	c.2154	CCDS1241.1	1																																																																																			DDR2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000162733		0.473	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	HGNC	protein_coding	OTTHUMT00000083213.2	258	0.00	0	G	NM_006182		162746031	162746031	+1	no_errors	ENST00000367921	ensembl	human	known	69_37n	silent	261	11.78	35	SNP	1.000	A
DHX37	57647	genome.wustl.edu	37	12	125435302	125435302	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr12:125435302A>T	ENST00000308736.2	-	22	3015	c.2917T>A	c.(2917-2919)Ttc>Atc	p.F973I	DHX37_ENST00000544745.1_Missense_Mutation_p.F760I	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	973							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.F973I(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGCTCTTTGAAAAGGACGGAG	0.582																																						dbGAP											1	Substitution - Missense(1)	breast(1)											89.0	99.0	96.0					12																	125435302		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2917T>A	12.37:g.125435302A>T	ENSP00000311135:p.Phe973Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F973I	ENST00000308736.2	37	c.2917	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	A	14.32	2.501479	0.44455	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03441	4.01;3.93	5.26	4.13	0.48395	Domain of unknown function DUF1605 (1);	0.142736	0.64402	D	0.000004	T	0.05823	0.0152	M	0.76574	2.34	0.49213	D	0.999764	P;P	0.41947	0.478;0.766	B;B	0.38106	0.174;0.265	T	0.41016	-0.9532	10	0.22706	T	0.39	-17.8858	10.4516	0.44526	0.9236:0.0:0.0764:0.0	.	760;973	F5H3Y4;Q8IY37	.;DHX37_HUMAN	I	973;760	ENSP00000311135:F973I;ENSP00000439009:F760I	ENSP00000311135:F973I	F	-	1	0	DHX37	124001255	1.000000	0.71417	0.796000	0.32109	0.740000	0.42216	5.615000	0.67702	1.997000	0.58415	0.459000	0.35465	TTC	DHX37	-	pfam_DUF1605	ENSG00000150990		0.582	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		130	0.00	0	A	NM_032656		125435302	125435302	-1	no_errors	ENST00000308736	ensembl	human	known	69_37n	missense	138	16.77	28	SNP	0.997	T
DLGAP1	9229	genome.wustl.edu	37	18	3879838	3879838	+	Silent	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr18:3879838C>T	ENST00000315677.3	-	4	826	c.231G>A	c.(229-231)tcG>tcA	p.S77S	DLGAP1_ENST00000515196.2_Silent_p.S77S|DLGAP1_ENST00000584874.1_Silent_p.S77S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.S77S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	77					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.S77S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GCTCTTGCTGCGAGGTGTAGT	0.672																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											50.0	51.0	51.0					18																	3879838		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.231G>A	18.37:g.3879838C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	pfam_GKAP	p.S77	ENST00000315677.3	37	c.231	CCDS11836.1	18																																																																																			DLGAP1	-	NULL	ENSG00000170579		0.672	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	88	0.00	0	C			3879838	3879838	-1	no_errors	ENST00000315677	ensembl	human	known	69_37n	silent	22	37.14	13	SNP	0.964	T
ECD	11319	genome.wustl.edu	37	10	74894479	74894479	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr10:74894479G>C	ENST00000372979.4	-	14	2003	c.1797C>G	c.(1795-1797)aaC>aaG	p.N599K	ECD_ENST00000454759.2_Missense_Mutation_p.N556K|ECD_ENST00000430082.2_Missense_Mutation_p.N632K	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	599					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.N599K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TTGAAACCAGGTTCAGGTCTA	0.453																																						dbGAP											1	Substitution - Missense(1)	breast(1)											111.0	108.0	109.0					10																	74894479		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.1797C>G	10.37:g.74894479G>C	ENSP00000362070:p.Asn599Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JX46|E9PAW8	Missense_Mutation	SNP	pfam_SGT1	p.N632K	ENST00000372979.4	37	c.1896	CCDS7321.1	10	.	.	.	.	.	.	.	.	.	.	G	19.68	3.871927	0.72180	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000454759	T;T;T	0.48522	1.48;1.27;0.81	5.66	2.82	0.32997	.	0.040182	0.85682	N	0.000000	T	0.69842	0.3156	M	0.89095	3.005	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.992	T	0.71189	-0.4666	10	0.87932	D	0	-13.6527	9.6606	0.39952	0.2278:0.0:0.7722:0.0	.	556;632;599	E9PAW8;C9JX46;O95905	.;.;SGT1_HUMAN	K	599;632;556	ENSP00000362070:N599K;ENSP00000401566:N632K;ENSP00000395786:N556K	ENSP00000362070:N599K	N	-	3	2	ECD	74564485	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.751000	0.26348	0.327000	0.23409	0.563000	0.77884	AAC	ECD	-	NULL	ENSG00000122882		0.453	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECD	HGNC	protein_coding	OTTHUMT00000048606.1	126	0.00	0	G	NM_007265		74894479	74894479	-1	no_errors	ENST00000430082	ensembl	human	known	69_37n	missense	88	16.98	18	SNP	1.000	C
ECE2	9718	genome.wustl.edu	37	3	184009866	184009866	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr3:184009866G>A	ENST00000402825.3	+	19	2492	c.2492G>A	c.(2491-2493)cGc>cAc	p.R831H	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R684H|ECE2_ENST00000357474.5_Missense_Mutation_p.R759H|ECE2_ENST00000404464.3_Missense_Mutation_p.R713H	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	831	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)	p.R684H(1)|p.R759H(1)|p.R831H(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCTCGGTCCGCACACCAGAG	0.662																																						dbGAP											3	Substitution - Missense(3)	breast(3)											37.0	38.0	38.0					3																	184009866		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2492G>A	3.37:g.184009866G>A	ENSP00000384223:p.Arg831His	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.R831H	ENST00000402825.3	37	c.2492	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	G	27.8	4.863047	0.91511	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	4.85	4.85	0.62838	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	0.964;1.0;1.0;1.0	B;D;D;D	0.75020	0.418;0.984;0.971;0.985	D	0.90975	0.4823	10	0.18276	T	0.48	-16.7804	15.5139	0.75806	0.0:0.0:1.0:0.0	.	713;759;684;831	O60344-2;O60344-5;O60344-3;O60344	.;.;.;ECE2_HUMAN	H	831;684;713;759	ENSP00000384223:R831H;ENSP00000352052:R684H;ENSP00000385846:R713H;ENSP00000350066:R759H	ENSP00000350066:R759H	R	+	2	0	ECE2	185492560	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.925000	0.63425	2.515000	0.84797	0.491000	0.48974	CGC	ECE2	-	pfam_Peptidase_M13_C	ENSG00000145194		0.662	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	28	0.00	0	G	NM_014693		184009866	184009866	+1	no_errors	ENST00000402825	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
F5	2153	genome.wustl.edu	37	1	169519203	169519203	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:169519203A>T	ENST00000367797.3	-	10	1648	c.1447T>A	c.(1447-1449)Tat>Aat	p.Y483N	F5_ENST00000367796.3_Missense_Mutation_p.Y483N|F5_ENST00000546081.1_3'UTR	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	483	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.Y483N(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TTCCACTTATAAGTATAGGTT	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											209.0	190.0	196.0					1																	169519203		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1447T>A	1.37:g.169519203A>T	ENSP00000356771:p.Tyr483Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.Y483N	ENST00000367797.3	37	c.1447	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240178	0.58995	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99270	-5.66;-5.66	5.64	5.64	0.86602	Cupredoxin (2);	0.125923	0.56097	D	0.000031	D	0.99632	0.9865	H	0.96301	3.8	0.46011	D	0.998810	D	0.89917	1.0	D	0.87578	0.998	D	0.97604	1.0125	9	0.87932	D	0	-8.1722	15.8443	0.78876	1.0:0.0:0.0:0.0	.	483	P12259	FA5_HUMAN	N	483	ENSP00000356771:Y483N;ENSP00000356770:Y483N	ENSP00000356770:Y483N	Y	-	1	0	F5	167785827	1.000000	0.71417	0.276000	0.24689	0.194000	0.23727	8.901000	0.92560	2.150000	0.67090	0.496000	0.49642	TAT	F5	-	superfamily_Cupredoxin	ENSG00000198734		0.388	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	438	0.00	0	A	NM_000130		169519203	169519203	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	395	11.21	50	SNP	0.995	T
F5	2153	genome.wustl.edu	37	1	169525950	169525950	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:169525950C>T	ENST00000367797.3	-	6	1087	c.886G>A	c.(886-888)Gca>Aca	p.A296T	F5_ENST00000367796.3_Missense_Mutation_p.A296T|F5_ENST00000546081.1_Missense_Mutation_p.A159T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	296	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.A296T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GTCATATTTGCGGTAGTGGAT	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											166.0	138.0	148.0					1																	169525950		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.886G>A	1.37:g.169525950C>T	ENSP00000356771:p.Ala296Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.A296T	ENST00000367797.3	37	c.886	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.679581	0.88542	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99778	-6.73;-6.73;-6.73	6.07	6.07	0.98685	Cupredoxin (2);	0.148396	0.64402	D	0.000013	D	0.99760	0.9903	M	0.75777	2.31	0.30674	N	0.753082	D	0.89917	1.0	D	0.70016	0.967	D	0.97917	1.0312	9	0.87932	D	0	-23.2348	20.6439	0.99570	0.0:1.0:0.0:0.0	.	296	P12259	FA5_HUMAN	T	296;296;159	ENSP00000356771:A296T;ENSP00000356770:A296T;ENSP00000439664:A159T	ENSP00000356770:A296T	A	-	1	0	F5	167792574	1.000000	0.71417	0.780000	0.31762	0.366000	0.29705	5.746000	0.68681	2.890000	0.99128	0.650000	0.86243	GCA	F5	-	superfamily_Cupredoxin	ENSG00000198734		0.483	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	328	0.61	2	C	NM_000130		169525950	169525950	-1	no_errors	ENST00000367796	ensembl	human	known	69_37n	missense	307	11.49	40	SNP	0.997	T
FAM110B	90362	genome.wustl.edu	37	8	59059800	59059800	+	Silent	SNP	C	C	T	rs571042146		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr8:59059800C>T	ENST00000361488.3	+	5	1891	c.1011C>T	c.(1009-1011)cgC>cgT	p.R337R	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	337						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.R337R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CCAATGACCGCGTGCCGTATG	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		23293	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - coding silent(1)	breast(1)											76.0	70.0	72.0					8																	59059800		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.1011C>T	8.37:g.59059800C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5BM08|Q9Y4K2	Silent	SNP	NULL	p.R337	ENST00000361488.3	37	c.1011	CCDS6170.1	8																																																																																			FAM110B	-	NULL	ENSG00000169122		0.463	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM110B	HGNC	protein_coding	OTTHUMT00000378095.2	223	0.00	0	C	NM_147189		59059800	59059800	+1	no_errors	ENST00000361488	ensembl	human	known	69_37n	silent	131	26.92	49	SNP	0.390	T
FAM90A26	100287045	genome.wustl.edu	37	4	9176186	9176186	+	Silent	SNP	G	G	A	rs192847199		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr4:9176186G>A	ENST00000512047.1	+	6	870	c.336G>A	c.(334-336)ccG>ccA	p.P112P	FAM90A26_ENST00000432515.1_Silent_p.P112P					family with sequence similarity 90, member A26																		AACAAGACCCGCAGAGGAAGG	0.547																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0					4p16.1	2013-03-06	2013-03-06	2013-03-06	ENSG00000229924	ENSG00000229924			43746	other	unknown			"""family with sequence similarity 90, member A26, pseudogene"""	FAM90A26P			Standard	NG_032089		Approved				OTTHUMG00000160151	ENST00000512047.1:c.336G>A	4.37:g.9176186G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	superfamily_Znf_CCHC	p.P112	ENST00000512047.1	37	c.336		4																																																																																			FAM90A26P	-	NULL	ENSG00000229924		0.547	FAM90A26-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	FAM90A26P	HGNC	protein_coding	OTTHUMT00000359419.1	14	0.00	0	G	NG_032089		9176186	9176186	+1	no_errors	ENST00000432515	ensembl	human	known	69_37n	silent	4	33.33	2	SNP	0.008	A
FANCA	2175	genome.wustl.edu	37	16	89877135	89877135	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr16:89877135G>C	ENST00000389301.3	-	5	532	c.502C>G	c.(502-504)Caa>Gaa	p.Q168E	FANCA_ENST00000568369.1_Missense_Mutation_p.Q168E|FANCA_ENST00000389302.3_Missense_Mutation_p.Q168E|FANCA_ENST00000543736.1_Intron|FANCA_ENST00000534992.1_Missense_Mutation_p.Q168E|FANCA_ENST00000563673.1_Missense_Mutation_p.Q168E	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	168					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.Q168E(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CATAATTCTTGACAGAAGGAA	0.393			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	1	Substitution - Missense(1)	breast(1)											99.0	100.0	99.0					16																	89877135		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.502C>G	16.37:g.89877135G>C	ENSP00000373952:p.Gln168Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.Q168E	ENST00000389301.3	37	c.502	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522904	0.27211	.	.	ENSG00000187741	ENST00000389301;ENST00000389302;ENST00000534992	T;T;T	0.43688	0.94;0.94;0.94	4.96	3.98	0.46160	.	0.000000	0.47852	D	0.000219	T	0.32704	0.0838	L	0.43152	1.355	0.30795	N	0.740451	B;P;P;P;B	0.36144	0.012;0.539;0.539;0.539;0.012	B;B;B;B;B	0.30782	0.006;0.12;0.12;0.12;0.006	T	0.36383	-0.9750	10	0.42905	T	0.14	-9.819	12.6028	0.56506	0.0:0.1675:0.8325:0.0	.	168;168;168;168;168	B4DRI7;A0PJU8;F5H8D5;O15360-2;O15360	.;.;.;.;FANCA_HUMAN	E	168	ENSP00000373952:Q168E;ENSP00000373953:Q168E;ENSP00000443675:Q168E	ENSP00000373952:Q168E	Q	-	1	0	FANCA	88404636	0.967000	0.33354	0.985000	0.45067	0.393000	0.30537	1.222000	0.32515	1.193000	0.43086	0.650000	0.86243	CAA	FANCA	-	NULL	ENSG00000187741		0.393	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	36	0.00	0	G			89877135	89877135	-1	no_errors	ENST00000389301	ensembl	human	known	69_37n	missense	39	27.78	15	SNP	1.000	C
FNDC8	54752	genome.wustl.edu	37	17	33456560	33456560	+	Silent	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:33456560C>T	ENST00000158009.5	+	3	820	c.705C>T	c.(703-705)ttC>ttT	p.F235F	NLE1_ENST00000586869.1_3'UTR	NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	235	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)		p.F235F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CATGGATCTTCAACAAGATTT	0.532																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											136.0	115.0	122.0					17																	33456560		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.705C>T	17.37:g.33456560C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9G6|Q9UFC2	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.F235	ENST00000158009.5	37	c.705	CCDS11290.1	17																																																																																			FNDC8	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000073598		0.532	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC8	HGNC	protein_coding	OTTHUMT00000256459.2	114	0.00	0	C	NM_017559		33456560	33456560	+1	no_errors	ENST00000158009	ensembl	human	known	69_37n	silent	266	49.91	267	SNP	1.000	T
FOCAD	54914	genome.wustl.edu	37	9	20770124	20770124	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:20770124C>T	ENST00000380249.1	+	10	1157	c.793C>T	c.(793-795)Ctt>Ttt	p.L265F	FOCAD_ENST00000338382.6_Missense_Mutation_p.L265F	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	265						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)		p.L265F(1)									GAAAATTCAGCTTACCCAGAT	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											159.0	165.0	163.0					9																	20770124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.793C>T	9.37:g.20770124C>T	ENSP00000369599:p.Leu265Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Missense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.L265F	ENST00000380249.1	37	c.793	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984976	0.53934	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	T;T	0.09723	2.95;2.95	5.57	5.57	0.84162	.	0.072954	0.53938	D	0.000044	T	0.21550	0.0519	L	0.36672	1.1	0.49798	D	0.999822	D	0.89917	1.0	D	0.71870	0.975	T	0.00302	-1.1834	10	0.87932	D	0	-20.0635	10.9753	0.47463	0.0:0.8814:0.0:0.1186	.	265	Q5VW36	K1797_HUMAN	F	265	ENSP00000369599:L265F;ENSP00000344307:L265F	ENSP00000344307:L265F	L	+	1	0	KIAA1797	20760124	1.000000	0.71417	0.994000	0.49952	0.561000	0.35649	3.853000	0.55941	2.604000	0.88044	0.561000	0.74099	CTT	FOCAD	-	NULL	ENSG00000188352		0.388	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	397	0.00	0	C	NM_017794		20770124	20770124	+1	no_errors	ENST00000338382	ensembl	human	known	69_37n	missense	208	20.61	54	SNP	1.000	T
FRS3	10817	genome.wustl.edu	37	6	41739230	41739230	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr6:41739230G>T	ENST00000373018.3	-	7	857	c.606C>A	c.(604-606)caC>caA	p.H202Q	FRS3_ENST00000259748.2_Missense_Mutation_p.H202Q	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	202					fibroblast growth factor receptor signaling pathway (GO:0008543)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGCCCCTGCGGTGGTCATCTT	0.637																																						dbGAP											0													43.0	46.0	45.0					6																	41739230		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF036718	CCDS4860.1	6p21.1	2010-08-05			ENSG00000137218	ENSG00000137218			16970	protein-coding gene	gene with protein product		607744				8761293, 9660748	Standard	NM_006653		Approved	SNT-2, FRS2beta, FRS2B	uc003orc.1	O43559	OTTHUMG00000014686	ENST00000373018.3:c.606C>A	6.37:g.41739230G>T	ENSP00000362109:p.His202Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3D5	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.H202Q	ENST00000373018.3	37	c.606	CCDS4860.1	6	.	.	.	.	.	.	.	.	.	.	G	2.724	-0.265951	0.05754	.	.	ENSG00000137218	ENST00000373018;ENST00000259748	T;T	0.20332	2.08;2.08	4.3	-3.9	0.04181	.	0.596468	0.19006	N	0.125216	T	0.01592	0.0051	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43491	-0.9388	10	0.11794	T	0.64	-2.3173	6.9253	0.24412	0.0834:0.5618:0.1633:0.1915	.	202	O43559	FRS3_HUMAN	Q	202	ENSP00000362109:H202Q;ENSP00000259748:H202Q	ENSP00000259748:H202Q	H	-	3	2	FRS3	41847208	0.146000	0.22672	0.000000	0.03702	0.997000	0.91878	-0.091000	0.11146	-0.513000	0.06496	0.655000	0.94253	CAC	FRS3	-	NULL	ENSG00000137218		0.637	FRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS3	HGNC	protein_coding	OTTHUMT00000040532.2	39	0.00	0	G	NM_006653		41739230	41739230	-1	no_errors	ENST00000259748	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	0.000	T
GABBR2	9568	genome.wustl.edu	37	9	101052888	101052888	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:101052888C>G	ENST00000259455.2	-	19	3263	c.2804G>C	c.(2803-2805)cGa>cCa	p.R935P		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	935					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.R935P(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GACCATGACTCGGAAGGAGGG	0.682																																						dbGAP											1	Substitution - Missense(1)	breast(1)											11.0	14.0	13.0					9																	101052888		2188	4281	6469	-	-	-	SO:0001583	missense	0			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2804G>C	9.37:g.101052888C>G	ENSP00000259455:p.Arg935Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C	p.R935P	ENST00000259455.2	37	c.2804	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727815	0.69074	.	.	ENSG00000136928	ENST00000259455	T	0.80653	-1.4	5.53	5.53	0.82687	.	0.069730	0.64402	D	0.000017	T	0.69949	0.3168	N	0.19112	0.55	0.58432	D	0.999998	P	0.46327	0.876	B	0.43536	0.423	T	0.74112	-0.3770	10	0.72032	D	0.01	.	10.4028	0.44239	0.0:0.9115:0.0:0.0885	.	935	O75899	GABR2_HUMAN	P	935	ENSP00000259455:R935P	ENSP00000259455:R935P	R	-	2	0	GABBR2	100092709	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.088000	0.71371	2.593000	0.87608	0.655000	0.94253	CGA	GABBR2	-	NULL	ENSG00000136928		0.682	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	75	0.00	0	C			101052888	101052888	-1	no_errors	ENST00000259455	ensembl	human	known	69_37n	missense	39	21.57	11	SNP	1.000	G
GPATCH8	23131	genome.wustl.edu	37	17	42477554	42477554	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:42477554C>G	ENST00000591680.1	-	8	1921	c.1891G>C	c.(1891-1893)Gac>Cac	p.D631H	GPATCH8_ENST00000434000.1_Missense_Mutation_p.D553H	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	631							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D631H(1)		breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCAGGTGCGTCCATTCTGCCT	0.557											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	53.0	53.0					17																	42477554		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1891G>C	17.37:g.42477554C>G	ENSP00000467556:p.Asp631His	Somatic	909	WXS	Illumina GAIIx	Phase_IV	B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.D631H	ENST00000591680.1	37	c.1891	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667214	0.29604	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.12569	2.67	4.67	4.67	0.58626	.	0.362066	0.24750	N	0.035916	T	0.11495	0.0280	L	0.27053	0.805	0.29291	N	0.869388	P	0.43169	0.8	B	0.40101	0.319	T	0.04607	-1.0939	10	0.66056	D	0.02	-7.8993	13.1786	0.59641	0.0:0.9205:0.0:0.0795	.	631	Q9UKJ3	GPTC8_HUMAN	H	631;553	ENSP00000395016:D553H	ENSP00000335486:D631H	D	-	1	0	GPATCH8	39833080	0.984000	0.35163	0.245000	0.24217	0.982000	0.71751	2.776000	0.47709	2.437000	0.82529	0.491000	0.48974	GAC	GPATCH8	-	NULL	ENSG00000186566		0.557	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	187	0.00	0	C	NM_001002909		42477554	42477554	-1	no_errors	ENST00000591680	ensembl	human	known	69_37n	missense	55	21.92	16	SNP	0.580	G
GPR64	10149	genome.wustl.edu	37	X	19021145	19021145	+	Silent	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chrX:19021145C>T	ENST00000379869.3	-	24	2212	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S	GPR64_ENST00000379878.3_Silent_p.S667S|GPR64_ENST00000379873.2_Silent_p.S683S|GPR64_ENST00000357991.3_Silent_p.S680S|GPR64_ENST00000360279.4_Silent_p.S661S|GPR64_ENST00000340581.3_Silent_p.S564S|GPR64_ENST00000379876.1_Silent_p.S659S|GPR64_ENST00000357544.3_Silent_p.S653S|GPR64_ENST00000356606.4_Silent_p.S669S|GPR64_ENST00000354791.3_Silent_p.S667S	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	683					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.S680S(1)		breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GAGCAATCCACGAGTCCAGGA	0.473																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											88.0	81.0	84.0					X																	19021145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2049G>A	X.37:g.19021145C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S683	ENST00000379869.3	37	c.2049	CCDS43923.1	X																																																																																			GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000173698		0.473	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	147	0.68	1	C			19021145	19021145	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	silent	88	16.82	18	SNP	0.123	T
GPRASP2	114928	genome.wustl.edu	37	X	101969921	101969921	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chrX:101969921A>T	ENST00000535209.1	+	4	955	c.124A>T	c.(124-126)Acc>Tcc	p.T42S	GPRASP2_ENST00000332262.5_Missense_Mutation_p.T42S|GPRASP2_ENST00000543253.1_Missense_Mutation_p.T42S			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	42						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.T42S(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CAAGGTTAGGACCCAGGCAAC	0.577																																						dbGAP											1	Substitution - Missense(1)	breast(1)											116.0	107.0	110.0					X																	101969921		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.124A>T	X.37:g.101969921A>T	ENSP00000437394:p.Thr42Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.T42S	ENST00000535209.1	37	c.124	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	A	3.172	-0.169827	0.06461	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07444	3.19;3.19;3.19	4.49	-2.22	0.06952	.	1.099750	0.07021	N	0.826765	T	0.05044	0.0135	L	0.27053	0.805	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.46857	-0.9161	10	0.08599	T	0.76	.	6.4841	0.22079	0.5446:0.1316:0.3237:0.0	.	42	Q96D09	GASP2_HUMAN	S	42	ENSP00000437872:T42S;ENSP00000437394:T42S;ENSP00000339057:T42S	ENSP00000339057:T42S	T	+	1	0	GPRASP2	101856577	0.012000	0.17670	0.100000	0.21137	0.558000	0.35554	-0.384000	0.07389	-0.861000	0.04094	-0.424000	0.05967	ACC	GPRASP2	-	NULL	ENSG00000158301		0.577	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	235	0.00	0	A	NM_138437		101969921	101969921	+1	no_errors	ENST00000332262	ensembl	human	known	69_37n	missense	131	15.72	25	SNP	0.127	T
GRID2	2895	genome.wustl.edu	37	4	94376970	94376970	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr4:94376970C>T	ENST00000282020.4	+	11	1961	c.1703C>T	c.(1702-1704)tCt>tTt	p.S568F	GRID2_ENST00000510992.1_Missense_Mutation_p.S473F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	568					cellular protein localization (GO:0034613)|cerebellar granule cell differentiation (GO:0021707)|glutamate receptor signaling pathway (GO:0007215)|heterophilic cell-cell adhesion (GO:0007157)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|ionotropic glutamate receptor complex (GO:0008328)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|PDZ domain binding (GO:0030165)|scaffold protein binding (GO:0097110)	p.S568F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)		TTTGATCTCTCTCTATGGGCT	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											237.0	206.0	217.0					4																	94376970		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF009014	CCDS3637.1, CCDS68758.1	4q22	2012-08-29			ENSG00000152208	ENSG00000152208		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4576	protein-coding gene	gene with protein product		602368				9465309	Standard	NM_001510		Approved	GluD2, GluR-delta-2	uc011cdt.2	O43424	OTTHUMG00000130975	ENST00000282020.4:c.1703C>T	4.37:g.94376970C>T	ENSP00000282020:p.Ser568Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PH24|Q4KKU8|Q4KKU9|Q4KKV0|Q59FZ1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S568F	ENST00000282020.4	37	c.1703	CCDS3637.1	4	.	.	.	.	.	.	.	.	.	.	C	29.7	5.025416	0.93518	.	.	ENSG00000152208	ENST00000282020;ENST00000510992	T;T	0.55413	0.52;0.52	5.97	5.97	0.96955	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.67031	0.2850	L	0.41492	1.28	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.68621	0.959;0.959	T	0.67078	-0.5761	10	0.87932	D	0	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	473;568	E9PH24;O43424	.;GRID2_HUMAN	F	568;473	ENSP00000282020:S568F;ENSP00000421257:S473F	ENSP00000282020:S568F	S	+	2	0	GRID2	94595993	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.836000	0.97738	0.655000	0.94253	TCT	GRID2	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000152208		0.483	GRID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID2	HGNC	protein_coding	OTTHUMT00000253588.2	342	0.00	0	C			94376970	94376970	+1	no_errors	ENST00000282020	ensembl	human	known	69_37n	missense	174	20.45	45	SNP	1.000	T
GSPT1	2935	genome.wustl.edu	37	16	11980419	11980419	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr16:11980419A>G	ENST00000563468.1	-	7	774	c.748T>C	c.(748-750)Ttc>Ctc	p.F250L	RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000434724.2_Missense_Mutation_p.F388L|GSPT1_ENST00000439887.2_Missense_Mutation_p.F387L|GSPT1_ENST00000420576.2_Missense_Mutation_p.F250L|GSPT1_ENST00000564790.1_5'UTR			P15170	ERF3A_HUMAN	G1 to S phase transition 1	250	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				G1/S transition of mitotic cell cycle (GO:0000082)|GTP catabolic process (GO:0006184)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein methylation (GO:0006479)|translational termination (GO:0006415)	intracellular (GO:0005622)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation release factor activity (GO:0003747)	p.F250L(1)|p.F388L(1)		breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TTGGGATTGAAGCCAACTTTT	0.358																																						dbGAP											2	Substitution - Missense(2)	breast(2)											99.0	96.0	97.0					16																	11980419		1933	4146	6079	-	-	-	SO:0001583	missense	0			BC008391	CCDS45412.1, CCDS45413.1, CCDS45414.1	16p13.1	2008-08-01							4621	protein-coding gene	gene with protein product		139259				2511002, 17700517	Standard	NM_002094		Approved	GST1, ETF3A, eRF3a	uc002dbt.3	P15170		ENST00000563468.1:c.748T>C	16.37:g.11980419A>G	ENSP00000454351:p.Phe250Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	J3KQG6|Q96GF2	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd	p.F388L	ENST00000563468.1	37	c.1162	CCDS45414.1	16	.	.	.	.	.	.	.	.	.	.	A	25.3	4.628914	0.87560	.	.	ENSG00000103342	ENST00000434724;ENST00000439887;ENST00000420576	T;T;T	0.41758	0.99;0.99;0.99	5.23	5.23	0.72850	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	U	0.000000	T	0.61362	0.2341	M	0.68593	2.085	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.76575	0.988;0.988;0.92	T	0.65236	-0.6217	10	0.87932	D	0	-9.5957	12.5203	0.56056	1.0:0.0:0.0:0.0	.	387;384;250	E7EQZ3;Q96GF2;P15170	.;.;ERF3A_HUMAN	L	388;387;250	ENSP00000398131:F388L;ENSP00000408399:F387L;ENSP00000399539:F250L	ENSP00000399539:F250L	F	-	1	0	GSPT1	11887920	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	1.979000	0.57680	0.459000	0.35465	TTC	GSPT1	-	pfam_ProtSyn_GTP-bd	ENSG00000103342		0.358	GSPT1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	GSPT1	HGNC	protein_coding	OTTHUMT00000421513.1	153	0.00	0	A	NM_002094		11980419	11980419	-1	no_errors	ENST00000434724	ensembl	human	known	69_37n	missense	120	17.69	26	SNP	1.000	G
GUF1	60558	genome.wustl.edu	37	4	44697709	44697709	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr4:44697709C>A	ENST00000281543.5	+	15	1987	c.1793C>A	c.(1792-1794)gCa>gAa	p.A598E	GUF1_ENST00000506793.1_3'UTR|RP11-700J17.1_ENST00000610260.1_RNA	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)									p.A598E(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTTGAGATAGCAATTCAAGCT	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											81.0	83.0	82.0					4																	44697709		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1793C>A	4.37:g.44697709C>A	ENSP00000281543:p.Ala598Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_LepA_GTP-bd_C,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_Elongation_fac_G/III/V,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.A598E	ENST00000281543.5	37	c.1793	CCDS3468.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.168023	0.94768	.	.	ENSG00000151806	ENST00000281543	T	0.70045	-0.45	5.74	5.74	0.90152	GTP-binding protein LepA, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87285	0.6139	H	0.94734	3.575	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.90273	0.4309	10	0.87932	D	0	-18.3703	18.9233	0.92534	0.0:1.0:0.0:0.0	.	598	Q8N442	GUF1_HUMAN	E	598	ENSP00000281543:A598E	ENSP00000281543:A598E	A	+	2	0	GUF1	44392466	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.716000	0.68437	2.703000	0.92315	0.655000	0.94253	GCA	GUF1	-	pfam_LepA_GTP-bd_C,tigrfam_EF-4	ENSG00000151806		0.373	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	HGNC	protein_coding	OTTHUMT00000250469.3	214	0.00	0	C	NM_021927		44697709	44697709	+1	no_errors	ENST00000281543	ensembl	human	known	69_37n	missense	57	26.92	21	SNP	1.000	A
GUSB	2990	genome.wustl.edu	37	7	65439594	65439594	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr7:65439594T>C	ENST00000304895.4	-	7	1293	c.1163A>G	c.(1162-1164)tAt>tGt	p.Y388C	GUSB_ENST00000421103.1_Missense_Mutation_p.Y242C|GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000345660.6_Missense_Mutation_p.Y337C	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	388					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)	p.Y388C(1)		breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTCCTCTGCATAGGGGTAGTG	0.597																																						dbGAP											1	Substitution - Missense(1)	breast(1)											103.0	95.0	98.0					7																	65439594		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1163A>G	7.37:g.65439594T>C	ENSP00000302728:p.Tyr388Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.Y388C	ENST00000304895.4	37	c.1163	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	T	13.36	2.213774	0.39102	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95622	-3.76;-3.76;-3.76	4.52	4.52	0.55395	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, family 2, conserved site (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.162458	0.53938	D	0.000057	D	0.98207	0.9407	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99208	1.0875	10	0.87932	D	0	.	13.4958	0.61426	0.0:0.0:0.0:1.0	.	242;388	E9PCV0;P08236	.;BGLR_HUMAN	C	388;242;337	ENSP00000302728:Y388C;ENSP00000391390:Y242C;ENSP00000340734:Y337C	ENSP00000302728:Y388C	Y	-	2	0	GUSB	65077029	1.000000	0.71417	0.902000	0.35471	0.351000	0.29236	7.501000	0.81600	2.026000	0.59711	0.459000	0.35465	TAT	GUSB	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF	ENSG00000169919		0.597	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	56	0.00	0	T	NM_000181		65439594	65439594	-1	no_errors	ENST00000304895	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	0.998	C
HAUS4	54930	genome.wustl.edu	37	14	23419608	23419608	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr14:23419608C>G	ENST00000206474.7	-	6	729	c.477G>C	c.(475-477)tgG>tgC	p.W159C	HAUS4_ENST00000342454.8_Missense_Mutation_p.W114C|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000490506.1_Missense_Mutation_p.W35C|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000555367.1_Missense_Mutation_p.W114C|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000541587.1_Missense_Mutation_p.W159C|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000555986.1_Missense_Mutation_p.W114C|RP11-298I3.1_ENST00000548322.1_RNA			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	159					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.W159C(1)		breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GAGCCCTCATCCACACAAAAT	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											100.0	85.0	90.0					14																	23419608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.477G>C	14.37:g.23419608C>G	ENSP00000206474:p.Trp159Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	NULL	p.W159C	ENST00000206474.7	37	c.477	CCDS9580.1	14	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147350	0.37923	.	.	ENSG00000092036	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000556915;ENST00000554516;ENST00000557591	.	.	.	4.93	2.71	0.32032	.	0.569368	0.20634	N	0.088539	T	0.36248	0.0960	L	0.43152	1.355	0.39055	D	0.960406	P;P	0.50272	0.844;0.933	B;B	0.42653	0.306;0.394	T	0.32508	-0.9904	9	0.66056	D	0.02	1.2076	4.9192	0.13862	0.2023:0.6391:0.0:0.1585	.	114;159	Q9H6D7-4;Q9H6D7	.;HAUS4_HUMAN	C	159;35;159;114;114;114;159;114;159;159	.	ENSP00000206474:W159C	W	-	3	0	HAUS4	22489448	0.875000	0.30112	1.000000	0.80357	0.972000	0.66771	1.364000	0.34171	1.071000	0.40834	0.591000	0.81541	TGG	HAUS4	-	NULL	ENSG00000092036		0.423	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	HGNC	protein_coding	OTTHUMT00000071680.3	111	0.00	0	C			23419608	23419608	-1	no_errors	ENST00000206474	ensembl	human	known	69_37n	missense	163	14.21	27	SNP	0.486	G
HAUS6	54801	genome.wustl.edu	37	9	19082942	19082942	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:19082942A>C	ENST00000380502.3	-	8	1266	c.799T>G	c.(799-801)Tta>Gta	p.L267V	HAUS6_ENST00000380496.1_Missense_Mutation_p.L131V	NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	267					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.L267V(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTTCCATCTAAAGCATATTGG	0.358																																						dbGAP											1	Substitution - Missense(1)	breast(1)											43.0	42.0	42.0					9																	19082942		2203	4289	6492	-	-	-	SO:0001583	missense	0			AL832495	CCDS6489.1	9p22.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000147874	ENSG00000147874		"""HAUS augmin-like complex subunits"""	25948	protein-coding gene	gene with protein product		613433	"""family with sequence similarity 29, member A"""	FAM29A		10997877, 19427217	Standard	NM_001270890		Approved	FLJ20060, KIAA1574, dgt6	uc003znk.4	Q7Z4H7	OTTHUMG00000019622	ENST00000380502.3:c.799T>G	9.37:g.19082942A>C	ENSP00000369871:p.Leu267Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPK4|B4DX82|Q05CG1|Q14CB6|Q14CD9|Q2TA91|Q6IQ10|Q6NZX5|Q8IZQ4|Q96FN0|Q9H950|Q9H998|Q9HCJ8|Q9NXT8	Missense_Mutation	SNP	NULL	p.L267V	ENST00000380502.3	37	c.799	CCDS6489.1	9	.	.	.	.	.	.	.	.	.	.	A	18.81	3.703576	0.68501	.	.	ENSG00000147874	ENST00000380502;ENST00000380496	D;D	0.95788	-3.81;-3.81	5.6	4.42	0.53409	.	0.070055	0.64402	D	0.000016	D	0.97167	0.9074	M	0.80847	2.515	0.39293	D	0.964772	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.76575	0.988;0.975;0.965;0.988	D	0.97842	1.0269	10	0.72032	D	0.01	-9.2087	10.3345	0.43841	0.8537:0.0:0.0:0.1463	.	267;267;131;267	Q7Z4H7-3;Q7Z4H7-2;Q5VY60;Q7Z4H7	.;.;.;HAUS6_HUMAN	V	267;131	ENSP00000369871:L267V;ENSP00000369865:L131V	ENSP00000369865:L131V	L	-	1	2	HAUS6	19072942	1.000000	0.71417	0.983000	0.44433	0.982000	0.71751	2.477000	0.45180	2.124000	0.65301	0.533000	0.62120	TTA	HAUS6	-	NULL	ENSG00000147874		0.358	HAUS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS6	HGNC	protein_coding	OTTHUMT00000051825.1	70	0.00	0	A	NM_017645		19082942	19082942	-1	no_errors	ENST00000380502	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	0.999	C
HCAR2	338442	genome.wustl.edu	37	12	123187141	123187141	+	Silent	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr12:123187141G>A	ENST00000328880.5	-	1	749	c.690C>T	c.(688-690)atC>atT	p.I230I	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	230					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)	p.I230I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	TGATGAAGGTGATGGCTCTCT	0.567																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											70.0	60.0	63.0					12																	123187141		2203	4297	6500	-	-	-	SO:0001819	synonymous_variant	0			AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.690C>T	12.37:g.123187141G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJL5|A7LGG3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor	p.I230	ENST00000328880.5	37	c.690	CCDS9235.1	12																																																																																			HCAR2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000182782		0.567	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR2	HGNC	protein_coding	OTTHUMT00000370202.1	159	0.00	0	G	NM_177551		123187141	123187141	-1	no_errors	ENST00000328880	ensembl	human	known	69_37n	silent	138	13.12	21	SNP	0.625	A
HDAC8	55869	genome.wustl.edu	37	X	71681927	71681927	+	Missense_Mutation	SNP	G	G	A	rs397515417		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chrX:71681927G>A	ENST00000373573.3	-	9	1273	c.932C>T	c.(931-933)aCg>aTg	p.T311M	HDAC8_ENST00000429103.2_Missense_Mutation_p.T116M|HDAC8_ENST00000373589.4_Missense_Mutation_p.T220M|HDAC8_ENST00000373583.1_Intron	NM_018486.2	NP_060956.1	Q9BY41	HDAC8_HUMAN	histone deacetylase 8	311	Histone deacetylase.		T -> M (in CDLS5). {ECO:0000269|PubMed:22885700}.		chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cohesin localization to chromatin (GO:0071922)|sister chromatid cohesion (GO:0007062)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|transcription factor binding (GO:0008134)	p.T311M(1)		breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	GCATCGAGCCGTGTTGGCAAG	0.478																																						dbGAP											1	Substitution - Missense(1)	breast(1)											114.0	94.0	101.0					X																	71681927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF230097	CCDS14420.1, CCDS55448.1, CCDS55449.1, CCDS55450.1, CCDS55451.1, CCDS55452.1	Xq13	2014-01-29	2002-09-02	2002-09-06	ENSG00000147099	ENSG00000147099			13315	protein-coding gene	gene with protein product		300269	"""histone deacetylase-like 1"", ""Wilson-Turner X-linked mental retardation syndrome"""	HDACL1, WTS, MRXS6		10756090, 10922473, 22889856	Standard	NM_001166448		Approved	RPD3	uc004eau.3	Q9BY41	OTTHUMG00000021814	ENST00000373573.3:c.932C>T	X.37:g.71681927G>A	ENSP00000362674:p.Thr311Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND12|A6ND61|A6NET3|A6NJR3|A8MQ62|B4DKN0|B4DV22|Q86VC8|Q9NP76|Q9NYH4	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse	p.T311M	ENST00000373573.3	37	c.932	CCDS14420.1	X	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296548	0.60086	.	.	ENSG00000147099	ENST00000373573;ENST00000373589;ENST00000429103;ENST00000373568;ENST00000415409	T;T;T;T;T	0.74002	-0.8;-0.8;-0.8;-0.8;-0.8	5.3	4.42	0.53409	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.82250	0.4996	L	0.58810	1.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.83608	0.0132	10	0.87932	D	0	-9.3925	11.3887	0.49800	0.0966:0.0:0.9034:0.0	.	220;220;311	B4DKN0;A6NGJ7;Q9BY41	.;.;HDAC8_HUMAN	M	311;220;116;220;285	ENSP00000362674:T311M;ENSP00000362691:T220M;ENSP00000388459:T116M;ENSP00000362669:T220M;ENSP00000396424:T285M	ENSP00000362669:T220M	T	-	2	0	HDAC8	71598652	1.000000	0.71417	0.974000	0.42286	0.987000	0.75469	6.190000	0.72057	2.352000	0.79861	0.594000	0.82650	ACG	HDAC8	-	pfam_His_deacetylse_dom,pirsf_His_deacetylse_1	ENSG00000147099		0.478	HDAC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC8	HGNC	protein_coding	OTTHUMT00000057193.2	253	0.00	0	G	NM_018486		71681927	71681927	-1	no_errors	ENST00000373573	ensembl	human	known	69_37n	missense	144	16.28	28	SNP	0.994	A
HIST1H3B	8358	genome.wustl.edu	37	6	26032069	26032069	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr6:26032069C>T	ENST00000244661.2	-	1	219	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	74					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)	p.E74K(5)		breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TGGGCGATTTCTCGCACCAGG	0.607																																						dbGAP											5	Substitution - Missense(5)	lung(3)|breast(2)											73.0	78.0	76.0					6																	26032069		2203	4300	6503	-	-	-	SO:0001583	missense	0			X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.220G>A	6.37:g.26032069C>T	ENSP00000244661:p.Glu74Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E74K	ENST00000244661.2	37	c.220	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	18.00	3.526579	0.64860	.	.	ENSG00000124693	ENST00000244661	T	0.45276	0.9	5.24	5.24	0.73138	.	.	.	.	.	T	0.56470	0.1987	.	.	.	0.48395	D	0.99964	.	.	.	.	.	.	T	0.61232	-0.7104	6	0.87932	D	0	.	18.166	0.89727	0.0:1.0:0.0:0.0	.	.	.	.	K	74	ENSP00000244661:E74K	ENSP00000244661:E74K	E	-	1	0	HIST1H3B	26140048	1.000000	0.71417	1.000000	0.80357	0.163000	0.22366	7.448000	0.80631	2.595000	0.87683	0.561000	0.74099	GAA	HIST1H3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000124693		0.607	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	HGNC	protein_coding	OTTHUMT00000040077.1	160	0.00	0	C	NM_003537		26032069	26032069	-1	no_errors	ENST00000244661	ensembl	human	known	69_37n	missense	59	21.33	16	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	185958690	185958690	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:185958690C>T	ENST00000271588.4	+	21	3348	c.3119C>T	c.(3118-3120)tCa>tTa	p.S1040L	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1040L|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1040	Ig-like C2-type 7.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S1040L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATGTGGTATCACCTGGAGGA	0.502																																						dbGAP											1	Substitution - Missense(1)	breast(1)											122.0	110.0	114.0					1																	185958690		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.3119C>T	1.37:g.185958690C>T	ENSP00000271588:p.Ser1040Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.S1040L	ENST00000271588.4	37	c.3119	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412223	0.83340	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.43294	0.95;0.95	5.45	5.45	0.79879	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.61565	0.2357	L	0.54908	1.71	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.99	T	0.56601	-0.7952	10	0.35671	T	0.21	.	19.3079	0.94171	0.0:1.0:0.0:0.0	.	424;1040	Q96RW7-3;Q96RW7	.;HMCN1_HUMAN	L	1040	ENSP00000271588:S1040L;ENSP00000356462:S1040L	ENSP00000271588:S1040L	S	+	2	0	HMCN1	184225313	1.000000	0.71417	0.972000	0.41901	0.748000	0.42578	7.215000	0.77966	2.550000	0.86006	0.655000	0.94253	TCA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.502	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	110	0.00	0	C	NM_031935		185958690	185958690	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	124	12.68	18	SNP	1.000	T
HOXD11	3237	genome.wustl.edu	37	2	176973637	176973638	+	Frame_Shift_Ins	INS	-	-	C	rs369831126		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr2:176973637_176973638insC	ENST00000249504.5	+	2	854_855	c.784_785insC	c.(784-786)gccfs	p.A262fs	HOXD11_ENST00000498438.1_3'UTR|HOXD10_ENST00000490088.2_3'UTR|AC009336.1_ENST00000401374.2_RNA	NM_021192.2	NP_067015.2	P31277	HXD11_HUMAN	homeobox D11	262					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|single fertilization (GO:0007338)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)							OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		CCTTGCAGTTGCCCCCCAGCGG	0.619			T	NUP98	AML																																	dbGAP		Dom	yes		2	2q31-q32	3237	homeo box D11		L	0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2265.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128713	ENSG00000128713		"""Homeoboxes / ANTP class : HOXL subclass"""	5134	protein-coding gene	gene with protein product		142986	"""homeo box D11"""	HOX4, HOX4F		1973146, 1358459	Standard	NM_021192		Approved		uc002uki.3	P31277	OTTHUMG00000132510	ENST00000249504.5:c.790dupC	2.37:g.176973643_176973643dupC	ENSP00000249504:p.Ala262fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIS4|Q9NS02	Frame_Shift_Ins	INS	pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Q264fs	ENST00000249504.5	37	c.784_785	CCDS2265.1	2																																																																																			HOXD11	-	superfamily_Homeodomain-like,pfscan_Homeodomain	ENSG00000128713		0.619	HOXD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD11	HGNC	protein_coding	OTTHUMT00000359250.2	39	0.00	0	-			176973637	176973638	+1	no_errors	ENST00000249504	ensembl	human	known	69_37n	frame_shift_ins	35	10.26	4	INS	0.999:1.000	C
HS3ST2	9956	genome.wustl.edu	37	16	22926408	22926408	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr16:22926408G>A	ENST00000261374.3	+	2	1063	c.629G>A	c.(628-630)cGt>cAt	p.R210H		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	210					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)	p.R210H(1)		breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		CCTGTGACCCGTGCCATCTCT	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											133.0	116.0	122.0					16																	22926408		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.629G>A	16.37:g.22926408G>A	ENSP00000261374:p.Arg210His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LZ1	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.R210H	ENST00000261374.3	37	c.629	CCDS10606.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	4.005896	0.74932	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	D	0.83250	-1.7	5.07	4.11	0.48088	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.94542	0.8242	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96285	0.9209	10	0.87932	D	0	.	14.7047	0.69179	0.0:0.1454:0.8546:0.0	.	210	Q9Y278	HS3S2_HUMAN	H	210;218	ENSP00000261374:R210H	ENSP00000261374:R210H	R	+	2	0	HS3ST2	22833909	1.000000	0.71417	0.895000	0.35142	0.512000	0.34134	9.869000	0.99810	1.129000	0.42072	0.561000	0.74099	CGT	HS3ST2	-	pfam_Sulfotransferase_dom	ENSG00000122254		0.587	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST2	HGNC	protein_coding	OTTHUMT00000211598.1	188	0.00	0	G	NM_006043		22926408	22926408	+1	no_errors	ENST00000261374	ensembl	human	known	69_37n	missense	126	19.11	30	SNP	0.908	A
HUWE1	10075	genome.wustl.edu	37	X	53560335	53560335	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chrX:53560335C>G	ENST00000342160.3	-	83	13517	c.13060G>C	c.(13060-13062)Gag>Cag	p.E4354Q	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4354Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4354	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E4354Q(1)|p.E4278Q(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CGGAGCTTCTCAAAGCTCTCA	0.483																																						dbGAP											2	Substitution - Missense(2)	breast(2)											51.0	46.0	48.0					X																	53560335		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.13060G>C	X.37:g.53560335C>G	ENSP00000340648:p.Glu4354Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E4354Q	ENST00000342160.3	37	c.13060	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.19|13.19	2.163678|2.163678	0.38217|0.38217	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.54675|.	0.56;0.56|.	5.3|5.3	5.3|5.3	0.74995|0.74995	HECT (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.73560|.	0.3602|.	M|M	0.69463|0.69463	2.115|2.115	0.80722|0.80722	D|D	1|1	D;P|.	0.53151|.	0.958;0.948|.	D;P|.	0.65140|.	0.932;0.889|.	T|.	0.73088|.	-0.4093|.	10|.	0.48119|.	T|.	0.1|.	.|.	16.9322|16.9322	0.86193|0.86193	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4354;4338|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	Q|S	4354|3387;1176	ENSP00000340648:E4354Q;ENSP00000262854:E4354Q|.	ENSP00000262854:E4354Q|.	E|X	-|-	1|2	0|2	HUWE1|HUWE1	53577060|53577060	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.096000|7.096000	0.76960|0.76960	2.347000|2.347000	0.79759|0.79759	0.513000|0.513000	0.50165|0.50165	GAG|TGA	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.483	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	109	0.00	0	C	XM_497119		53560335	53560335	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	95	17.39	20	SNP	1.000	G
HUWE1	10075	genome.wustl.edu	37	X	53562391	53562391	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chrX:53562391C>G	ENST00000342160.3	-	80	13060	c.12603G>C	c.(12601-12603)gaG>gaC	p.E4201D	HUWE1_ENST00000262854.6_Missense_Mutation_p.E4201D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4201	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.E4201D(1)|p.E4091D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTTCTTATTCTCCTCTGTTA	0.443																																						dbGAP											2	Substitution - Missense(2)	breast(2)											229.0	170.0	190.0					X																	53562391		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12603G>C	X.37:g.53562391C>G	ENSP00000340648:p.Glu4201Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.E4201D	ENST00000342160.3	37	c.12603	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.57|12.57	1.977213|1.977213	0.34848|0.34848	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|T;T	0.58060|0.59364	0.36;0.36|0.27;0.27	5.39|5.39	-0.55|-0.55	0.11825|0.11825	HECT (4);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.47637|0.47637	0.1456|0.1456	N|N	0.21324|0.21324	0.655|0.655	0.52099|0.52099	D|D	0.999949|0.999949	P;P|.	0.37708|.	0.606;0.552|.	P;P|.	0.58130|.	0.833;0.742|.	T|T	0.42103|0.42103	-0.9471|-0.9471	10|8	0.45353|0.72032	T|D	0.12|0.01	.|.	10.332|10.332	0.43829|0.43829	0.0:0.4755:0.0:0.5245|0.0:0.4755:0.0:0.5245	.|.	4201;4185|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	D|Q	4201|3235;1024	ENSP00000340648:E4201D;ENSP00000262854:E4201D|ENSP00000401253:E3235Q;ENSP00000403236:E1024Q	ENSP00000262854:E4201D|ENSP00000403236:E1024Q	E|E	-|-	3|1	2|0	HUWE1|HUWE1	53579116|53579116	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.985000|0.985000	0.73830|0.73830	1.099000|1.099000	0.31013|0.31013	-0.546000|-0.546000	0.06216|0.06216	-0.208000|-0.208000	0.12717|0.12717	GAG|GAA	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.443	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	230	0.00	0	C	XM_497119		53562391	53562391	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	189	21.49	52	SNP	0.992	G
IAH1	285148	genome.wustl.edu	37	2	9628448	9628448	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr2:9628448G>C	ENST00000497473.1	+	6	774	c.737G>C	c.(736-738)gGa>gCa	p.G246A	IAH1_ENST00000545602.1_Missense_Mutation_p.G133A|IAH1_ENST00000470914.1_Missense_Mutation_p.G133A|IAH1_ENST00000482918.1_Missense_Mutation_p.G133A	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	246					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)	p.G246A(1)		breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTGGGAGATGGAGACCATTAG	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	82.0	85.0					2																	9628448		1905	4132	6037	-	-	-	SO:0001583	missense	0			BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.737G>C	2.37:g.9628448G>C	ENSP00000417580:p.Gly246Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMV3	Missense_Mutation	SNP	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.G246A	ENST00000497473.1	37	c.737	CCDS42651.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.9|25.9	4.685095|4.685095	0.88639|0.88639	.|.	.|.	ENSG00000134330|ENSG00000134330	ENST00000481367|ENST00000482918;ENST00000497473;ENST00000470914;ENST00000545602	.|.	.|.	.|.	5.68|5.68	4.79|4.79	0.61399|0.61399	.|.	.|0.379451	.|0.27420	.|N	.|0.019442	T|T	0.42562|0.42562	0.1208|0.1208	N|N	0.22421|0.22421	0.69|0.69	0.33205|0.33205	D|D	0.552597|0.552597	.|D	.|0.56968	.|0.978	.|P	.|0.52957	.|0.714	T|T	0.51309|0.51309	-0.8722|-0.8722	5|9	.|0.41790	.|T	.|0.15	-30.0705|-30.0705	9.8858|9.8858	0.41260|0.41260	0.0909:0.0:0.9091:0.0|0.0909:0.0:0.9091:0.0	.|.	.|246	.|Q2TAA2	.|IAH1_HUMAN	Q|A	226|133;246;133;133	.|.	.|ENSP00000419224:G133A	E|G	+|+	1|2	0|0	IAH1|IAH1	9545899|9545899	0.521000|0.521000	0.26258|0.26258	0.922000|0.922000	0.36590|0.36590	0.992000|0.992000	0.81027|0.81027	1.239000|1.239000	0.32719|0.32719	2.835000|2.835000	0.97688|0.97688	0.650000|0.650000	0.86243|0.86243	GAG|GGA	IAH1	-	NULL	ENSG00000134330		0.443	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IAH1	HGNC	protein_coding	OTTHUMT00000353192.1	130	0.00	0	G	NM_001039613		9628448	9628448	+1	no_errors	ENST00000497473	ensembl	human	known	69_37n	missense	109	15.27	20	SNP	0.871	C
IGSF11	152404	genome.wustl.edu	37	3	118624539	118624539	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr3:118624539G>A	ENST00000393775.2	-	5	912	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	IGSF11_ENST00000425327.2_Missense_Mutation_p.R202W|IGSF11_ENST00000441144.2_Missense_Mutation_p.R202W|IGSF11_ENST00000489689.1_Missense_Mutation_p.R203W|IGSF11_ENST00000491903.1_Missense_Mutation_p.R203W|IGSF11_ENST00000354673.2_Missense_Mutation_p.R202W	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	203	Ig-like C2-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R202W(2)|p.R203W(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTGATGTTCCGGATGGTGACT	0.473																																						dbGAP											3	Substitution - Missense(3)	breast(2)|large_intestine(1)											108.0	104.0	105.0					3																	118624539		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.607C>T	3.37:g.118624539G>A	ENSP00000377370:p.Arg203Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R203W	ENST00000393775.2	37	c.607	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958571	0.74016	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;T	0.84298	3.99;3.99;-1.83;3.99;-1.79;3.99	5.22	4.35	0.52113	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.158514	0.53938	N	0.000045	D	0.88451	0.6440	L	0.56199	1.76	0.44295	D	0.997164	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.71656	0.962;0.96;0.941;0.962;0.974	D	0.88339	0.2973	10	0.72032	D	0.01	.	8.1314	0.31029	0.0761:0.0:0.6718:0.252	.	203;202;202;203;203	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	W	202;203;203;202;202;203	ENSP00000406092:R202W;ENSP00000377370:R203W;ENSP00000420486:R203W;ENSP00000346700:R202W;ENSP00000401240:R202W;ENSP00000417413:R203W	ENSP00000346700:R202W	R	-	1	2	IGSF11	120107229	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.290000	0.59019	1.573000	0.49748	0.655000	0.94253	CGG	IGSF11	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000144847		0.473	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	259	0.00	0	G			118624539	118624539	-1	no_errors	ENST00000393775	ensembl	human	known	69_37n	missense	141	17.06	29	SNP	1.000	A
INPPL1	3636	genome.wustl.edu	37	11	71948208	71948209	+	Frame_Shift_Ins	INS	-	-	C	rs561416155		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr11:71948208_71948209insC	ENST00000298229.2	+	26	3124_3125	c.2920_2921insC	c.(2920-2922)gccfs	p.A974fs	INPPL1_ENST00000538751.1_Frame_Shift_Ins_p.A732fs|PHOX2A_ENST00000544057.1_5'Flank|INPPL1_ENST00000541756.1_Frame_Shift_Ins_p.A732fs	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	974	Pro-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)	p.P977fs*7(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGGGGTGGCGGCCCCCCCACCC	0.634																																						dbGAP											1	Insertion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0			Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.2927dupC	11.37:g.71948215_71948215dupC	ENSP00000298229:p.Ala974fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTX5|Q13577|Q13578	Frame_Shift_Ins	INS	pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2	p.P977fs	ENST00000298229.2	37	c.2920_2921	CCDS8213.1	11																																																																																			INPPL1	-	NULL	ENSG00000165458		0.634	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPPL1	HGNC	protein_coding	OTTHUMT00000396789.1	45	0.00	0	-	NM_001567		71948208	71948209	+1	no_errors	ENST00000298229	ensembl	human	known	69_37n	frame_shift_ins	35	10.26	4	INS	0.025:0.066	C
KCNH7	90134	genome.wustl.edu	37	2	163694986	163694986	+	Silent	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr2:163694986G>A	ENST00000332142.5	-	1	142	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	KCNH7_ENST00000328032.4_Silent_p.L15L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	15					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)	p.L15L(2)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ATGGTCCCCAGAAATGTATTT	0.567																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											2	Substitution - coding silent(2)	breast(2)											139.0	122.0	128.0					2																	163694986		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.43C>T	2.37:g.163694986G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.L15	ENST00000332142.5	37	c.43	CCDS2219.1	2																																																																																			KCNH7	-	NULL	ENSG00000184611		0.567	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	207	0.00	0	G	NM_033272		163694986	163694986	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	silent	82	23.36	25	SNP	0.965	A
KCNV1	27012	genome.wustl.edu	37	8	110986391	110986391	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr8:110986391C>A	ENST00000524391.1	-	2	1259	c.227G>T	c.(226-228)cGc>cTc	p.R76L	KCNV1_ENST00000297404.1_Missense_Mutation_p.R76L|RP11-696P8.2_ENST00000530667.1_RNA			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	76					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.R76L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCCGGGGCGGCGGTAGGAAGC	0.701																																						dbGAP											1	Substitution - Missense(1)	breast(1)											14.0	14.0	14.0					8																	110986391		2191	4283	6474	-	-	-	SO:0001583	missense	0			AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.227G>T	8.37:g.110986391C>A	ENSP00000435954:p.Arg76Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UHJ4	Missense_Mutation	SNP	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.R76L	ENST00000524391.1	37	c.227	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452842	0.84209	.	.	ENSG00000164794	ENST00000524391;ENST00000297404	D;D	0.97642	-4.47;-4.47	4.95	4.95	0.65309	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.202582	0.35320	N	0.003284	D	0.94328	0.8177	N	0.17082	0.46	0.43126	D	0.994851	P	0.45827	0.867	P	0.47744	0.556	D	0.94826	0.7991	10	0.59425	D	0.04	.	13.5678	0.61828	0.0:1.0:0.0:0.0	.	76	Q6PIU1	KCNV1_HUMAN	L	76	ENSP00000435954:R76L;ENSP00000297404:R76L	ENSP00000297404:R76L	R	-	2	0	KCNV1	111055567	0.972000	0.33761	1.000000	0.80357	0.886000	0.51366	0.757000	0.26433	2.554000	0.86153	0.655000	0.94253	CGC	KCNV1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000164794		0.701	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	15	0.00	0	C	NM_014379		110986391	110986391	-1	no_errors	ENST00000297404	ensembl	human	known	69_37n	missense	2	75.00	6	SNP	1.000	A
KDM4A	9682	genome.wustl.edu	37	1	44134883	44134883	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:44134883G>A	ENST00000372396.3	+	10	1410	c.1276G>A	c.(1276-1278)Gag>Aag	p.E426K		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	426					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E426K(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGAGCAGTATGAGATGACGGA	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											143.0	138.0	140.0					1																	44134883		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.1276G>A	1.37:g.44134883G>A	ENSP00000361473:p.Glu426Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVB1	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E426K	ENST00000372396.3	37	c.1276	CCDS491.1	1	.	.	.	.	.	.	.	.	.	.	G	12.88	2.069449	0.36470	.	.	ENSG00000066135	ENST00000372396	T	0.15487	2.42	5.23	5.23	0.72850	.	0.885541	0.10194	N	0.704191	T	0.12305	0.0299	N	0.16567	0.415	0.33812	D	0.628	B;B	0.23058	0.079;0.064	B;B	0.20767	0.01;0.031	T	0.06110	-1.0845	10	0.07325	T	0.83	-20.6631	17.3433	0.87303	0.0:0.0:1.0:0.0	.	426;426	B4DT38;O75164	.;KDM4A_HUMAN	K	426	ENSP00000361473:E426K	ENSP00000361473:E426K	E	+	1	0	KDM4A	43907470	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	7.315000	0.78998	2.596000	0.87737	0.561000	0.74099	GAG	KDM4A	-	NULL	ENSG00000066135		0.547	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4A	HGNC	protein_coding	OTTHUMT00000019960.1	242	0.00	0	G	NM_014663		44134883	44134883	+1	no_errors	ENST00000372396	ensembl	human	known	69_37n	missense	101	27.14	38	SNP	1.000	A
KIAA1107	23285	genome.wustl.edu	37	1	92647295	92647295	+	Missense_Mutation	SNP	G	G	C	rs373917273		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:92647295G>C	ENST00000370378.4	+	8	2839	c.2741G>C	c.(2740-2742)cGa>cCa	p.R914P	KIAA1107_ENST00000409154.4_Missense_Mutation_p.R969P	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	969								p.R914P(1)		breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						ATTTGGTCTCGATCTGCAATA	0.368																																						dbGAP											1	Substitution - Missense(1)	breast(1)											25.0	24.0	24.0					1																	92647295		692	1591	2283	-	-	-	SO:0001583	missense	0			AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.2741G>C	1.37:g.92647295G>C	ENSP00000359404:p.Arg914Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	O14767|Q8N3X7	Missense_Mutation	SNP	NULL	p.R969P	ENST00000370378.4	37	c.2906	CCDS44172.1	1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604786	0.28623	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.06933	3.24;3.24	5.79	4.87	0.63330	.	0.315347	0.30134	N	0.010340	T	0.12732	0.0309	L	0.55481	1.735	0.44373	D	0.997274	D	0.76494	0.999	D	0.71656	0.974	T	0.00200	-1.1927	10	0.66056	D	0.02	.	7.705	0.28644	0.2496:0.0:0.7504:0.0	.	914	E9PEZ5	.	P	969;914	ENSP00000386957:R969P;ENSP00000359404:R914P	ENSP00000359404:R914P	R	+	2	0	KIAA1107	92419883	1.000000	0.71417	0.959000	0.39883	0.126000	0.20510	2.480000	0.45206	2.733000	0.93635	0.655000	0.94253	CGA	KIAA1107	-	NULL	ENSG00000069712		0.368	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	HGNC	protein_coding	OTTHUMT00000028375.3	71	0.00	0	G	XM_034086		92647295	92647295	+1	no_errors	ENST00000409154	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	0.804	C
KLHL14	57565	genome.wustl.edu	37	18	30321922	30321922	+	Silent	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr18:30321922G>A	ENST00000359358.4	-	3	1476	c.1038C>T	c.(1036-1038)gaC>gaT	p.D346D	KLHL14_ENST00000358095.4_Silent_p.D346D	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	346						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.D346D(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTTTTCATCGTCGTAATACT	0.408																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											76.0	68.0	71.0					18																	30321922		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.1038C>T	18.37:g.30321922G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNW1|B4DHA0|Q8WU41	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D346	ENST00000359358.4	37	c.1038	CCDS32813.1	18																																																																																			KLHL14	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000197705		0.408	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL14	HGNC	protein_coding	OTTHUMT00000448376.1	161	0.00	0	G			30321922	30321922	-1	no_errors	ENST00000359358	ensembl	human	known	69_37n	silent	89	12.62	13	SNP	0.815	A
KLHL7	55975	genome.wustl.edu	37	7	23213889	23213889	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr7:23213889G>A	ENST00000339077.5	+	11	1976	c.1733G>A	c.(1732-1734)gGa>gAa	p.G578E	KLHL7_ENST00000409689.1_Missense_Mutation_p.G530E|KLHL7_ENST00000322231.7_Missense_Mutation_p.G556E|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000545443.1_Missense_Mutation_p.G556E|KLHL7_ENST00000542558.1_Missense_Mutation_p.G353E|KLHL7_ENST00000539124.1_Missense_Mutation_p.G502E	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	578					protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.G578E(1)|p.G556E(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GATACTTGTGGAGCAAATGAA	0.398																																						dbGAP											2	Substitution - Missense(2)	breast(2)											123.0	123.0	123.0					7																	23213889		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5378.1, CCDS34609.1, CCDS5378.2, CCDS55095.1	7p15.3	2013-01-30	2013-01-30		ENSG00000122550	ENSG00000122550		"""Kelch-like"", ""BTB/POZ domain containing"""	15646	protein-coding gene	gene with protein product	"""retinitis pigmentosa 42"""	611119	"""kelch-like 7 (Drosophila)"""			19520207	Standard	NM_001031710		Approved	KLHL6, SBBI26, RP42	uc003svs.4	Q8IXQ5	OTTHUMG00000094813	ENST00000339077.5:c.1733G>A	7.37:g.23213889G>A	ENSP00000343273:p.Gly578Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D144|B7Z5I9|G5E9G3|Q7Z765|Q96MV2|Q9BQF8|Q9UDQ9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G578E	ENST00000339077.5	37	c.1733	CCDS34609.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247394	0.80024	.	.	ENSG00000122550	ENST00000538858;ENST00000322231;ENST00000339077;ENST00000539124;ENST00000542558;ENST00000409689;ENST00000545443	T;T;T;T;T;T	0.71934	-0.49;-0.5;-0.45;-0.61;-0.49;-0.49	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.76535	0.4001	N	0.22421	0.69	0.80722	D	1	P;D;D	0.76494	0.743;0.999;0.999	B;D;D	0.87578	0.334;0.994;0.998	T	0.79918	-0.1600	10	0.66056	D	0.02	.	18.775	0.91908	0.0:0.0:1.0:0.0	.	353;578;556	B7Z3P9;Q8IXQ5;Q8IXQ5-2	.;KLHL7_HUMAN;.	E	419;556;578;502;353;530;556	ENSP00000322958:G556E;ENSP00000343273:G578E;ENSP00000441136:G502E;ENSP00000442367:G353E;ENSP00000386263:G530E;ENSP00000442366:G556E	ENSP00000322958:G556E	G	+	2	0	KLHL7	23180414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.174000	0.94824	2.506000	0.84524	0.655000	0.94253	GGA	KLHL7	-	pirsf_Kelch-like_gigaxonin	ENSG00000122550		0.398	KLHL7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL7	HGNC	protein_coding	OTTHUMT00000326860.3	469	0.00	0	G	NM_018846		23213889	23213889	+1	no_errors	ENST00000339077	ensembl	human	known	69_37n	missense	294	19.01	69	SNP	1.000	A
LILRA1	11024	genome.wustl.edu	37	19	55106642	55106642	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr19:55106642G>T	ENST00000251372.3	+	5	618	c.436G>T	c.(436-438)Gtc>Ttc	p.V146F	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.V146F	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	146	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.V146F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTCCATTGTGTCTCACAGGT	0.562																																						dbGAP											1	Substitution - Missense(1)	breast(1)											154.0	142.0	146.0					19																	55106642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.436G>T	19.37:g.55106642G>T	ENSP00000251372:p.Val146Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O75018|Q3MJA6	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like	p.V146F	ENST00000251372.3	37	c.436	CCDS12901.1	19	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896739	0.33535	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.03212	4.01;4.01	2.24	1.05	0.20165	Immunoglobulin-like fold (1);	1.599790	0.03451	N	0.210702	T	0.06781	0.0173	N	0.26042	0.785	0.09310	N	1	P;P	0.51537	0.946;0.679	P;P	0.52672	0.706;0.579	T	0.33803	-0.9854	10	0.87932	D	0	.	6.2874	0.21041	0.0:0.0:0.7041:0.2959	.	146;146	O75019-2;O75019	.;LIRA1_HUMAN	F	146	ENSP00000251372:V146F;ENSP00000413715:V146F	ENSP00000251372:V146F	V	+	1	0	LILRA1	59798454	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	-1.386000	0.02537	0.187000	0.20147	0.194000	0.17425	GTC	LILRA1	-	smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt	ENSG00000104974		0.562	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	HGNC	protein_coding	OTTHUMT00000140807.2	248	0.00	0	G	NM_006863		55106642	55106642	+1	no_errors	ENST00000251372	ensembl	human	known	69_37n	missense	94	21.67	26	SNP	0.072	T
LINGO2	158038	genome.wustl.edu	37	9	27950444	27950444	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:27950444C>T	ENST00000379992.2	-	6	675	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K	LINGO2_ENST00000308675.3_Missense_Mutation_p.E76K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	76						integral component of membrane (GO:0016021)		p.E76K(2)		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)		GATATGAATTCTTCAGGGTTG	0.448																																						dbGAP											2	Substitution - Missense(2)	breast(2)											232.0	236.0	234.0					9																	27950444		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.226G>A	9.37:g.27950444C>T	ENSP00000369328:p.Glu76Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	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	p.E76K	ENST00000379992.2	37	c.226	CCDS6524.1	9	.	.	.	.	.	.	.	.	.	.	C	22.3	4.270860	0.80469	.	.	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.79845	-1.31;-1.31	5.74	5.74	0.90152	.	0.054402	0.85682	D	0.000000	T	0.75481	0.3855	L	0.41415	1.275	0.80722	D	1	B	0.31931	0.347	B	0.30495	0.116	T	0.70403	-0.4881	9	.	.	.	.	20.2825	0.98528	0.0:1.0:0.0:0.0	.	76	Q7L985	LIGO2_HUMAN	K	76	ENSP00000369328:E76K;ENSP00000310126:E76K	.	E	-	1	0	LINGO2	27940444	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.740000	0.84986	2.873000	0.98535	0.561000	0.74099	GAA	LINGO2	-	NULL	ENSG00000174482		0.448	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO2	HGNC	protein_coding	OTTHUMT00000051978.2	234	0.00	0	C	NM_152570		27950444	27950444	-1	no_errors	ENST00000308675	ensembl	human	known	69_37n	missense	97	15.65	18	SNP	1.000	T
LLGL2	3993	genome.wustl.edu	37	17	73564904	73564904	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:73564904G>C	ENST00000392550.3	+	12	1423	c.1306G>C	c.(1306-1308)Gac>Cac	p.D436H	LLGL2_ENST00000577200.1_Missense_Mutation_p.D436H|LLGL2_ENST00000167462.5_Missense_Mutation_p.D436H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	436					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.D436H(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			ACCCCAGAGGGACCTGCTGCT	0.602																																						dbGAP											2	Substitution - Missense(2)	breast(2)											45.0	48.0	47.0					17																	73564904		2202	4300	6502	-	-	-	SO:0001583	missense	0			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1306G>C	17.37:g.73564904G>C	ENSP00000376333:p.Asp436His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14521|Q9BR62	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.D436H	ENST00000392550.3	37	c.1306	CCDS32733.1	17	.	.	.	.	.	.	.	.	.	.	G	11.59	1.685113	0.29872	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.12147	2.71;2.71	5.33	5.33	0.75918	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.37732	0.1014	M	0.63843	1.955	0.58432	D	0.999997	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.987;1.0;0.999;0.981;0.989	T	0.09400	-1.0676	10	0.72032	D	0.01	-47.1188	19.014	0.92886	0.0:0.0:1.0:0.0	.	63;425;425;436;436	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	H	436;436;425	ENSP00000167462:D436H;ENSP00000376333:D436H	ENSP00000167462:D436H	D	+	1	0	LLGL2	71076499	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	7.963000	0.87922	2.475000	0.83589	0.561000	0.74099	GAC	LLGL2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	ENSG00000073350		0.602	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	56	0.00	0	G	NM_004524		73564904	73564904	+1	no_errors	ENST00000392550	ensembl	human	known	69_37n	missense	34	25.53	12	SNP	1.000	C
LNX1	84708	genome.wustl.edu	37	4	54362417	54362417	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr4:54362417G>A	ENST00000263925.7	-	6	1437	c.1123C>T	c.(1123-1125)Ccc>Tcc	p.P375S	LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000306888.2_Missense_Mutation_p.P279S	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	375					protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P375S(1)|p.P279S(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCATCTCGGGGTCTGTAGGCA	0.562																																						dbGAP											2	Substitution - Missense(2)	breast(2)											76.0	79.0	78.0					4																	54362417		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.1123C>T	4.37:g.54362417G>A	ENSP00000263925:p.Pro375Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.P375S	ENST00000263925.7	37	c.1123	CCDS47057.1	4	.	.	.	.	.	.	.	.	.	.	G	1.171	-0.640871	0.03557	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.29917	1.55;1.55	5.29	2.49	0.30216	PDZ/DHR/GLGF (1);	0.858374	0.10753	N	0.638137	T	0.21962	0.0529	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.12156	0.007;0.005	T	0.26360	-1.0105	10	0.34782	T	0.22	.	7.895	0.29702	0.2059:0.0:0.6561:0.138	.	375;279	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	S	279;213;375	ENSP00000302879:P279S;ENSP00000263925:P375S	ENSP00000263925:P375S	P	-	1	0	LNX1	54057174	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	1.062000	0.30555	0.072000	0.16694	-1.134000	0.01955	CCC	LNX1	-	superfamily_PDZ	ENSG00000072201		0.562	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LNX1	HGNC	protein_coding	OTTHUMT00000219934.2	327	0.00	0	G			54362417	54362417	-1	no_errors	ENST00000263925	ensembl	human	known	69_37n	missense	193	18.75	45	SNP	0.000	A
LPHN2	23266	genome.wustl.edu	37	1	82408979	82408979	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:82408979G>A	ENST00000370728.1	+	8	1369	c.724G>A	c.(724-726)Gag>Aag	p.E242K	LPHN2_ENST00000370730.1_Missense_Mutation_p.E242K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E242K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E242K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E242K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E242K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E242K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370721.1_Missense_Mutation_p.E246K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E242K|LPHN2_ENST00000370725.1_Missense_Mutation_p.E242K|LPHN2_ENST00000370715.1_Missense_Mutation_p.E242K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E242K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E242K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E242K			O95490	LPHN2_HUMAN	latrophilin 2	242	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)	p.E242K(2)		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)		TAAGAGTGGCGAGGCCATAAT	0.403																																						dbGAP											2	Substitution - Missense(2)	breast(2)											121.0	118.0	119.0					1																	82408979		2203	4299	6502	-	-	-	SO:0001583	missense	0			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.724G>A	1.37:g.82408979G>A	ENSP00000359763:p.Glu242Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	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.E242K	ENST00000370728.1	37	c.724		1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.408588	0.83340	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.63	5.63	0.86233	.	0.055640	0.64402	D	0.000001	D	0.83894	0.5353	M	0.63843	1.955	0.80722	D	1	B;B;P	0.42248	0.444;0.375;0.774	B;B;B	0.34242	0.178;0.089;0.178	D	0.86640	0.1891	10	0.59425	D	0.04	.	19.6942	0.96016	0.0:0.0:1.0:0.0	.	242;242;242	O95490-3;O95490-4;O95490-2	.;.;.	K	246;242;242;242;242;242;242;242;242;242;242;242;242;242	ENSP00000359756:E246K;ENSP00000359763:E242K;ENSP00000359765:E242K;ENSP00000359762:E242K;ENSP00000359760:E242K;ENSP00000359758:E242K;ENSP00000353006:E242K;ENSP00000359750:E242K;ENSP00000359748:E242K;ENSP00000322270:E242K;ENSP00000359752:E242K;ENSP00000378344:E242K;ENSP00000271029:E242K;ENSP00000337306:E242K	ENSP00000271029:E242K	E	+	1	0	LPHN2	82181567	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.476000	0.97823	2.651000	0.90000	0.455000	0.32223	GAG	LPHN2	-	pfam_Olfac-like,smart_Olfac-like,prints_GPCR_2_latrophilin,pfscan_Olfac-like	ENSG00000117114		0.403	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	283	0.00	0	G	NM_012302		82408979	82408979	+1	no_errors	ENST00000370717	ensembl	human	known	69_37n	missense	81	28.95	33	SNP	1.000	A
MACROD2	140733	genome.wustl.edu	37	20	15918186	15918186	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr20:15918186G>A	ENST00000310348.4	+	12	904	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	MACROD2_ENST00000402914.1_Missense_Mutation_p.E67K|MACROD2_ENST00000217246.4_Missense_Mutation_p.E302K|MACROD2_ENST00000378058.3_Missense_Mutation_p.E67K			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	302	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)	p.E302K(1)|p.E67K(1)		breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTGTAAAGATGAAGGTATGAG	0.403																																						dbGAP											2	Substitution - Missense(2)	breast(2)											121.0	128.0	126.0					20																	15918186		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.904G>A	20.37:g.15918186G>A	ENSP00000309809:p.Glu302Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.E302K	ENST00000310348.4	37	c.904	CCDS13120.2	20	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376776	0.24857	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058	T;T;T;T	0.50001	2.34;2.32;0.76;0.76	5.91	3.61	0.41365	.	0.129495	0.35708	N	0.003040	T	0.36963	0.0986	L	0.43152	1.355	0.27814	N	0.942023	B;B	0.11235	0.003;0.004	B;B	0.17722	0.009;0.019	T	0.25117	-1.0141	10	0.40728	T	0.16	-7.2967	7.9833	0.30196	0.0974:0.1836:0.719:0.0	.	302;302	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	K	302;302;67;67	ENSP00000217246:E302K;ENSP00000309809:E302K;ENSP00000385290:E67K;ENSP00000367297:E67K	ENSP00000217246:E302K	E	+	1	0	MACROD2	15866186	1.000000	0.71417	0.999000	0.59377	0.194000	0.23727	1.342000	0.33919	1.477000	0.48234	0.650000	0.86243	GAA	MACROD2	-	NULL	ENSG00000172264		0.403	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		144	0.00	0	G	NM_080676		15918186	15918186	+1	no_errors	ENST00000310348	ensembl	human	known	69_37n	missense	110	17.78	24	SNP	0.998	A
MAGEA12	4111	genome.wustl.edu	37	X	151900209	151900209	+	Nonsense_Mutation	SNP	T	T	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chrX:151900209T>A	ENST00000357916.4	-	2	747	c.592A>T	c.(592-594)Aag>Tag	p.K198*	MAGEA12_ENST00000393900.3_Nonsense_Mutation_p.K198*|MAGEA12_ENST00000393869.3_Nonsense_Mutation_p.K198*|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	198	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.K198*(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCCTGTCTTGGGCACGATC	0.582																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											149.0	142.0	144.0					X																	151900209		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.592A>T	X.37:g.151900209T>A	ENSP00000350592:p.Lys198*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NSD3	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K198*	ENST00000357916.4	37	c.592	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	T	16.86	3.240653	0.58995	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	.	.	.	0.809	0.809	0.18725	.	0.092704	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	198	.	ENSP00000350592:K198X	K	-	1	0	MAGEA12	151650865	0.765000	0.28485	0.041000	0.18516	0.002000	0.02628	1.298000	0.33412	0.557000	0.29117	0.151000	0.16131	AAG	MAGEA12	-	pfam_MAGE,pfscan_MAGE	ENSG00000213401		0.582	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	363	0.00	0	T	NM_005367		151900209	151900209	-1	no_errors	ENST00000357916	ensembl	human	known	69_37n	nonsense	174	15.12	31	SNP	0.039	A
MGA	23269	genome.wustl.edu	37	15	42003252	42003252	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr15:42003252C>G	ENST00000570161.1	+	7	2789	c.2789C>G	c.(2788-2790)tCt>tGt	p.S930C	MGA_ENST00000566586.1_Missense_Mutation_p.S930C|MGA_ENST00000389936.4_Missense_Mutation_p.S930C|MGA_ENST00000219905.7_Missense_Mutation_p.S930C|MGA_ENST00000545763.1_Missense_Mutation_p.S930C			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S930C(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGAAATACTCTCATGTGATT	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											144.0	141.0	142.0					15																	42003252		1868	4114	5982	-	-	-	SO:0001583	missense	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2789C>G	15.37:g.42003252C>G	ENSP00000457035:p.Ser930Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.S930C	ENST00000570161.1	37	c.2789	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564163	0.27915	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.19394	2.15;2.15;2.15	5.84	2.87	0.33458	.	1.431980	0.04031	N	0.301394	T	0.15998	0.0385	N	0.19112	0.55	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.18263	0.021;0.009	T	0.27123	-1.0083	10	0.87932	D	0	.	5.3017	0.15781	0.2648:0.5394:0.1279:0.0678	.	930;930	F5H7K2;E7ENI0	.;.	C	930	ENSP00000219905:S930C;ENSP00000374586:S930C;ENSP00000442467:S930C	ENSP00000219905:S930C	S	+	2	0	MGA	39790544	0.000000	0.05858	0.106000	0.21319	0.848000	0.48234	0.462000	0.21956	0.773000	0.33404	0.655000	0.94253	TCT	MGA	-	NULL	ENSG00000174197		0.373	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	98	0.00	0	C	NM_001164273.1		42003252	42003252	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	65	33.67	33	SNP	0.064	G
MLST8	64223	genome.wustl.edu	37	16	2258236	2258237	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr16:2258236_2258237insG	ENST00000569417.1	+	7	953_954	c.599_600insG	c.(598-603)acggggfs	p.TG200fs	MLST8_ENST00000382450.4_Frame_Shift_Ins_p.TG199fs|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000397124.1_Frame_Shift_Ins_p.TG200fs|MLST8_ENST00000301724.10_Frame_Shift_Ins_p.TG200fs|MLST8_ENST00000564088.1_Frame_Shift_Ins_p.TG200fs|MLST8_ENST00000565250.1_Frame_Shift_Ins_p.TG200fs	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	200					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						TGGAATCTGACGGGGGGCATTG	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.605dupG	16.37:g.2258242_2258242dupG	ENSP00000456405:p.Thr200fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Frame_Shift_Ins	INS	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I203fs	ENST00000569417.1	37	c.599_600	CCDS10462.2	16																																																																																			MLST8	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000167965		0.629	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLST8	HGNC	protein_coding	OTTHUMT00000250763.2	28	0.00	0	-	NM_022372		2258236	2258237	+1	no_errors	ENST00000397124	ensembl	human	known	69_37n	frame_shift_ins	33	10.81	4	INS	1.000:0.005	G
MTMR12	54545	genome.wustl.edu	37	5	32263227	32263227	+	Silent	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr5:32263227G>A	ENST00000382142.3	-	7	875	c.705C>T	c.(703-705)gtC>gtT	p.V235V	MTMR12_ENST00000264934.5_Silent_p.V235V|MTMR12_ENST00000280285.5_Silent_p.V235V	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	235	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	phosphatase activity (GO:0016791)	p.V235V(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACCTCTCACAGACTTTATAGC	0.433																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											339.0	278.0	299.0					5																	32263227		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB051469	CCDS34138.1, CCDS75230.1	5p15.33	2011-06-09	2005-04-07	2005-04-07	ENSG00000150712	ENSG00000150712		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	18191	protein-coding gene	gene with protein product		606501	"""phosphatidylinositol-3-phosphate associated protein"""	PIP3AP		11504939, 12495846	Standard	XM_005248313		Approved	3-PAP, FLJ20476, KIAA1682, 3PAP	uc003jhq.3	Q9C0I1	OTTHUMG00000161978	ENST00000382142.3:c.705C>T	5.37:g.32263227G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q69YJ4|Q6PFW3|Q96QU2|Q9NX27	Silent	SNP	pfam_Myotubularin_assoc	p.V235	ENST00000382142.3	37	c.705	CCDS34138.1	5																																																																																			MTMR12	-	NULL	ENSG00000150712		0.433	MTMR12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR12	HGNC	protein_coding	OTTHUMT00000366579.1	433	0.00	0	G	NM_019061		32263227	32263227	-1	no_errors	ENST00000382142	ensembl	human	known	69_37n	silent	354	14.08	58	SNP	1.000	A
MYO16	23026	genome.wustl.edu	37	13	109445934	109445936	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr13:109445934_109445936delCTT	ENST00000357550.2	+	5	662_664	c.621_623delCTT	c.(619-624)cacttc>cac	p.F208del	MYO16_ENST00000356711.2_In_Frame_Del_p.F208del|MYO16_ENST00000251041.5_In_Frame_Del_p.F208del	NM_001198950.1	NP_001185879.1			myosin XVI									p.F208delF(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ATGTCAAACACTTCTTATCATCT	0.394																																						dbGAP											1	Deletion - In frame(1)	breast(1)																																								-	-	-	SO:0001651	inframe_deletion	0				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.621_623delCTT	13.37:g.109445937_109445939delCTT	ENSP00000350160:p.Phe208del	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Del	DEL	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F208in_frame_del	ENST00000357550.2	37	c.621_623	CCDS32008.1	13																																																																																			MYO16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000041515		0.394	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	118	0.00	0	CTT	NM_015011		109445934	109445936	+1	no_errors	ENST00000356711	ensembl	human	known	69_37n	in_frame_del	28	19.44	7	DEL	1.000:1.000:1.000	-
MYOF	26509	genome.wustl.edu	37	10	95072846	95072846	+	Silent	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr10:95072846G>C	ENST00000359263.4	-	51	5819	c.5820C>G	c.(5818-5820)ctC>ctG	p.L1940L	MYOF_ENST00000371501.4_Silent_p.L1940L|MYOF_ENST00000371502.4_Silent_p.L1930L|MYOF_ENST00000358334.5_Silent_p.L1927L	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1940					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.L1940L(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTGCTCAAAGAGGGAGGCTG	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											293.0	284.0	287.0					10																	95072846		1957	4158	6115	-	-	-	SO:0001819	synonymous_variant	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5820C>G	10.37:g.95072846G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.L1940	ENST00000359263.4	37	c.5820	CCDS41551.1	10																																																																																			MYOF	-	NULL	ENSG00000138119		0.488	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	130	0.00	0	G	NM_013451		95072846	95072846	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	silent	152	15.08	27	SNP	0.999	C
MYOF	26509	genome.wustl.edu	37	10	95185852	95185852	+	Missense_Mutation	SNP	C	C	T	rs557119618		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr10:95185852C>T	ENST00000359263.4	-	5	408	c.409G>A	c.(409-411)Ggg>Agg	p.G137R	MYOF_ENST00000371501.4_Missense_Mutation_p.G137R|MYOF_ENST00000371488.3_Missense_Mutation_p.G137R|MYOF_ENST00000371502.4_Missense_Mutation_p.G137R|MYOF_ENST00000358334.5_Missense_Mutation_p.G137R|MYOF_ENST00000371489.1_Missense_Mutation_p.G137R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	137					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.G137R(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACGCTGGGCCCGCTCAGGTCA	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18921	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											38.0	41.0	40.0					10																	95185852		1954	4124	6078	-	-	-	SO:0001583	missense	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.409G>A	10.37:g.95185852C>T	ENSP00000352208:p.Gly137Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting	p.G137R	ENST00000359263.4	37	c.409	CCDS41551.1	10	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151272	0.57151	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489;ENST00000371488	D;D;D;D;T;T	0.82984	-1.66;-1.66;-1.66;-1.67;-1.45;0.08	6.16	6.16	0.99307	.	0.156020	0.56097	D	0.000021	D	0.89305	0.6677	M	0.63428	1.95	0.45541	D	0.998494	D;D;D	0.71674	0.998;0.98;0.992	D;P;P	0.66351	0.943;0.739;0.587	D	0.87206	0.2244	10	0.38643	T	0.18	-9.3839	17.7766	0.88510	0.0:1.0:0.0:0.0	.	119;137;137	Q9NZM1-8;Q9NZM1-6;Q9NZM1	.;.;MYOF_HUMAN	R	137	ENSP00000351094:G137R;ENSP00000352208:G137R;ENSP00000360556:G137R;ENSP00000360557:G137R;ENSP00000360544:G137R;ENSP00000360543:G137R	ENSP00000351094:G137R	G	-	1	0	MYOF	95175842	0.994000	0.37717	0.851000	0.33527	0.074000	0.17049	4.110000	0.57831	2.937000	0.99478	0.650000	0.86243	GGG	MYOF	-	NULL	ENSG00000138119		0.552	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	187	0.00	0	C	NM_013451		95185852	95185852	-1	no_errors	ENST00000359263	ensembl	human	known	69_37n	missense	132	16.35	26	SNP	0.990	T
NCF1	653361	genome.wustl.edu	37	7	74193727	74193727	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr7:74193727C>G	ENST00000289473.4	+	4	424	c.354C>G	c.(352-354)ttC>ttG	p.F118L	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	118	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular defense response (GO:0006968)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|leukotriene metabolic process (GO:0006691)|negative regulation of smooth muscle contraction (GO:0045986)|neutrophil mediated killing of fungus (GO:0070947)|neutrophil mediated killing of gram-positive bacterium (GO:0070946)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|protein targeting to membrane (GO:0006612)|respiratory burst (GO:0045730)|respiratory burst involved in defense response (GO:0002679)|response to yeast (GO:0001878)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagolysosome (GO:0032010)|rough endoplasmic reticulum (GO:0005791)	electron carrier activity (GO:0009055)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.F118L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10					Dextromethorphan(DB00514)	TCGACTTCTTCAAGGTGCGCC	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											50.0	39.0	42.0					7																	74193727		2196	4283	6479	-	-	-	SO:0001583	missense	0			M25665	CCDS34657.1	7q11.23	2014-09-17	2008-07-31		ENSG00000158517	ENSG00000158517			7660	protein-coding gene	gene with protein product	"""NADPH oxidase organizer 2"", ""chronic granulomatous disease, autosomal 1"""	608512	"""neutrophil cytosolic factor 1 (47kD, chronic granulomatous disease, autosomal 1)"""				Standard	NM_000265		Approved	p47phox, NOXO2, NCF1A, SH3PXD1A	uc022aft.1	P14598	OTTHUMG00000149965	ENST00000289473.4:c.354C>G	7.37:g.74193727C>G	ENSP00000289473:p.Phe118Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEH2|A8K7S9|O43842|Q2PP07|Q53FR5|Q9BU90|Q9BXI7|Q9BXI8|Q9UDV9|Q9UMU2	Missense_Mutation	SNP	pfam_SH3_domain,pfam_NADPH_oxidase_p47Phox_C,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,prints_P47PHOX,pfscan_Phox,pfscan_SH3_domain	p.F118L	ENST00000289473.4	37	c.354	CCDS34657.1	7	.	.	.	.	.	.	.	.	.	.	c	15.22	2.767553	0.49574	.	.	ENSG00000158517	ENST00000289473;ENST00000433458;ENST00000471594;ENST00000442021	T;T;T	0.69926	-0.44;-0.44;-0.44	3.48	1.62	0.23740	Phox homologous domain (5);	0.099846	0.64402	D	0.000001	T	0.59307	0.2184	L	0.58810	1.83	0.58432	D	0.999998	P;B	0.47350	0.894;0.3	B;B	0.42062	0.374;0.156	T	0.56884	-0.7905	10	0.54805	T	0.06	-26.0384	8.5458	0.33421	0.0:0.724:0.0:0.276	.	118;118	P14598-2;P14598	.;NCF1_HUMAN	L	118;118;92;125	ENSP00000289473:F118L;ENSP00000392870:F118L;ENSP00000401935:F125L	ENSP00000289473:F118L	F	+	3	2	NCF1	73831663	1.000000	0.71417	0.989000	0.46669	0.960000	0.62799	2.858000	0.48356	0.144000	0.18951	0.442000	0.29010	TTC	NCF1	-	pfam_Phox,superfamily_Phox,smart_Phox,prints_P47PHOX,pfscan_Phox	ENSG00000158517		0.622	NCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF1	HGNC	protein_coding	OTTHUMT00000314560.1	47	0.00	0	C	NM_000265		74193727	74193727	+1	no_errors	ENST00000289473	ensembl	human	known	69_37n	missense	24	17.24	5	SNP	1.000	G
NCOR1	9611	genome.wustl.edu	37	17	15975531	15975531	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:15975531G>A	ENST00000268712.3	-	29	4080	c.3823C>T	c.(3823-3825)Cga>Tga	p.R1275*	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R1291*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1275	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.R1275*(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGTAATGCTCGGCATATCAGC	0.378																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											85.0	85.0	85.0					17																	15975531		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3823C>T	17.37:g.15975531G>A	ENSP00000268712:p.Arg1275*	Somatic		WXS	Illumina GAIIx	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1275*	ENST00000268712.3	37	c.3823	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	G	39	7.702131	0.98441	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9214	17.2924	0.87160	0.0:0.0:1.0:0.0	.	.	.	.	X	1275;1291;1182	.	ENSP00000268712:R1275X	R	-	1	2	NCOR1	15916256	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.682000	0.68182	2.768000	0.95171	0.491000	0.48974	CGA	NCOR1	-	NULL	ENSG00000141027		0.378	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	76	0.00	0	G	NM_006311		15975531	15975531	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	nonsense	20	56.52	26	SNP	1.000	A
NUFIP1	26747	genome.wustl.edu	37	13	45554947	45554947	+	Silent	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr13:45554947C>T	ENST00000379161.4	-	3	550	c.504G>A	c.(502-504)aaG>aaA	p.K168K	RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	168					box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)	p.K168K(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AAACTGGTTCCTTTCTTTTCT	0.299																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											74.0	78.0	77.0					13																	45554947		2202	4297	6499	-	-	-	SO:0001819	synonymous_variant	0			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.504G>A	13.37:g.45554947C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WVM5|Q96SG1	Silent	SNP	pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K168	ENST00000379161.4	37	c.504	CCDS9393.1	13																																																																																			NUFIP1	-	NULL	ENSG00000083635		0.299	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2	237	0.00	0	C	NM_012345		45554947	45554947	-1	no_errors	ENST00000379161	ensembl	human	known	69_37n	silent	124	15.65	23	SNP	1.000	T
NUP214	8021	genome.wustl.edu	37	9	134014692	134014692	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:134014692G>C	ENST00000359428.5	+	10	1174	c.1030G>C	c.(1030-1032)Gag>Cag	p.E344Q	RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.E344Q|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.E344Q|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	344	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTGGCTACTGGAGGATTCTAG	0.373			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	dbGAP		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0													80.0	72.0	75.0					9																	134014692		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1030G>C	9.37:g.134014692G>C	ENSP00000352400:p.Glu344Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	smart_WD40_repeat	p.E344Q	ENST00000359428.5	37	c.1030	CCDS6940.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.468202|5.468202	0.96274|0.96274	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375|ENST00000530863	D;D;D|.	0.95518|.	-3.73;-3.73;-3.73|.	5.68|5.68	5.68|5.68	0.88126|0.88126	WD40/YVTN repeat-like-containing domain (1);|.	0.000000|.	0.41396|.	D|.	0.000891|.	T|T	0.74839|0.74839	0.3769|0.3769	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.994;0.994|.	T|T	0.72690|0.72690	-0.4217|-0.4217	10|5	0.54805|.	T|.	0.06|.	-5.4561|-5.4561	18.7783|18.7783	0.91920|0.91920	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	344;344|.	P35658-4;P35658|.	.;NU214_HUMAN|.	Q|A	344|15	ENSP00000352400:E344Q;ENSP00000396576:E344Q;ENSP00000405014:E344Q|.	ENSP00000352400:E344Q|.	E|G	+|+	1|2	0|0	NUP214|NUP214	133004513|133004513	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.990000|0.990000	0.78478|0.78478	8.631000|8.631000	0.90991|0.90991	2.674000|2.674000	0.91012|0.91012	0.637000|0.637000	0.83480|0.83480	GAG|GGA	NUP214	-	NULL	ENSG00000126883		0.373	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NUP214	HGNC	protein_coding	OTTHUMT00000054694.2	178	0.00	0	G	NM_005085		134014692	134014692	+1	no_errors	ENST00000451030	ensembl	human	known	69_37n	missense	102	22.14	29	SNP	1.000	C
NUPL1	9818	genome.wustl.edu	37	13	25889548	25889548	+	Missense_Mutation	SNP	A	A	T	rs183179793		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr13:25889548A>T	ENST00000381736.3	+	6	878	c.628A>T	c.(628-630)Act>Tct	p.T210S	NUPL1_ENST00000381718.3_Missense_Mutation_p.T198S|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.T210S	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	210	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)	p.T210S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		AGCTACTTCAACTGCAGGCAA	0.358																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	dbGAP											1	Substitution - Missense(1)	breast(1)											287.0	308.0	301.0					13																	25889548		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.628A>T	13.37:g.25889548A>T	ENSP00000371155:p.Thr210Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	NULL	p.T210S	ENST00000381736.3	37	c.628	CCDS9314.1	13	.	.	.	.	.	.	.	.	.	.	A	12.44	1.938364	0.34189	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.50813	1.31;1.32;1.38;1.32;0.73	5.08	-6.25	0.02039	.	0.625028	0.17480	N	0.172751	T	0.32346	0.0826	L	0.55481	1.735	0.21579	N	0.999639	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.14811	-1.0459	10	0.25751	T	0.34	-0.9309	7.8417	0.29402	0.278:0.0:0.4966:0.2253	.	198;210;210	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	S	210;198;187;210;198;210;157	ENSP00000371155:T210S;ENSP00000418555:T210S;ENSP00000371137:T198S;ENSP00000371166:T210S;ENSP00000408147:T157S	ENSP00000318459:T187S	T	+	1	0	NUPL1	24787548	0.122000	0.22280	0.066000	0.19879	0.868000	0.49771	-0.198000	0.09505	-1.399000	0.02063	-1.114000	0.02060	ACT	NUPL1	-	NULL	ENSG00000139496		0.358	NUPL1-001	KNOWN	basic|CCDS	protein_coding	NUPL1	HGNC	protein_coding	OTTHUMT00000044228.2	387	0.00	0	A			25889548	25889548	+1	no_errors	ENST00000381736	ensembl	human	known	69_37n	missense	149	41.57	106	SNP	0.257	T
OR4A47	403253	genome.wustl.edu	37	11	48511196	48511196	+	Silent	SNP	C	C	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr11:48511196C>A	ENST00000446524.1	+	1	928	c.852C>A	c.(850-852)atC>atA	p.I284I		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I284I(1)|p.I284M(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCCCTTAATCTACACTCTGA	0.413																																						dbGAP											2	Substitution - Missense(1)|Substitution - coding silent(1)	breast(2)											129.0	126.0	127.0					11																	48511196		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			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.852C>A	11.37:g.48511196C>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I284	ENST00000446524.1	37	c.852	CCDS31490.1	11																																																																																			OR4A47	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	ENSG00000237388		0.413	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	HGNC	protein_coding	OTTHUMT00000390559.1	269	0.37	1	C	NM_001005512		48511196	48511196	+1	no_errors	ENST00000446524	ensembl	human	known	69_37n	silent	138	25.81	48	SNP	0.987	A
PCDHB10	56126	genome.wustl.edu	37	5	140573346	140573346	+	Silent	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr5:140573346C>T	ENST00000239446.4	+	1	1405	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	407	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G407G(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTACAGAAGGCGCGCTGGACA	0.463																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											82.0	84.0	83.0					5																	140573346		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1221C>T	5.37:g.140573346C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96T99	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G407	ENST00000239446.4	37	c.1221	CCDS4252.1	5																																																																																			PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000120324		0.463	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	168	0.00	0	C	NM_018930		140573346	140573346	+1	no_errors	ENST00000239446	ensembl	human	known	69_37n	silent	110	15.15	20	SNP	0.000	T
PCK2	5106	genome.wustl.edu	37	14	24572735	24572735	+	Silent	SNP	C	C	T	rs200462967	byFrequency	TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr14:24572735C>T	ENST00000216780.4	+	10	1753	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	PCK2_ENST00000545054.2_Silent_p.H361H|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Silent_p.H361H|PCK2_ENST00000558096.1_Silent_p.H329H	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	495					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)	p.H495H(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TCATCATGCACGACCCATTTG	0.582													C|||	2	0.000399361	0.0	0.0	5008	,	,		20821	0.002		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											70.0	71.0	71.0					14																	24572735		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1485C>T	14.37:g.24572735C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O43253|Q86U01|Q9BV62	Silent	SNP	pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP	p.H495	ENST00000216780.4	37	c.1485	CCDS9609.1	14																																																																																			PCK2	-	pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP	ENSG00000100889		0.582	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCK2	HGNC	protein_coding	OTTHUMT00000071900.3	117	0.00	0	C	NM_001018073		24572735	24572735	+1	no_errors	ENST00000216780	ensembl	human	known	69_37n	silent	37	21.28	10	SNP	0.077	T
PHF3	23469	genome.wustl.edu	37	6	64422949	64422949	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr6:64422949A>G	ENST00000262043.3	+	16	5805	c.5465A>G	c.(5464-5466)aAt>aGt	p.N1822S	PHF3_ENST00000393387.1_Missense_Mutation_p.N1822S			Q92576	PHF3_HUMAN	PHD finger protein 3	1822	Pro-rich.				multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.N1822S(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGGCCTCCTAATTTTCCCCCA	0.507																																					GBM(135;136 1820 29512 34071 46235)	dbGAP											1	Substitution - Missense(1)	breast(1)											134.0	142.0	139.0					6																	64422949		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.5465A>G	6.37:g.64422949A>G	ENSP00000262043:p.Asn1822Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.N1822S	ENST00000262043.3	37	c.5465	CCDS4966.1	6	.	.	.	.	.	.	.	.	.	.	A	4.845	0.157055	0.09236	.	.	ENSG00000118482	ENST00000262043;ENST00000393387	T;T	0.21031	2.03;2.03	5.97	3.49	0.39957	.	0.169130	0.27856	N	0.017573	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B	0.20780	0.048	B	0.13407	0.009	T	0.36744	-0.9735	9	.	.	.	-7.8425	6.8245	0.23874	0.7378:0.1318:0.1303:0.0	.	1822	Q92576	PHF3_HUMAN	S	1822	ENSP00000262043:N1822S;ENSP00000377048:N1822S	.	N	+	2	0	PHF3	64480908	0.998000	0.40836	0.486000	0.27416	0.985000	0.73830	2.618000	0.46393	2.288000	0.76882	0.533000	0.62120	AAT	PHF3	-	NULL	ENSG00000118482		0.507	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF3	HGNC	protein_coding	OTTHUMT00000041086.2	300	0.00	0	A			64422949	64422949	+1	no_errors	ENST00000262043	ensembl	human	known	69_37n	missense	117	14.18	20	SNP	0.138	G
PI4KA	5297	genome.wustl.edu	37	22	21119129	21119129	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr22:21119129G>T	ENST00000572273.1	-	22	2740	c.2510C>A	c.(2509-2511)tCt>tAt	p.S837Y	PI4KA_ENST00000466162.1_5'UTR|PI4KA_ENST00000255882.6_Missense_Mutation_p.S895Y			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	837					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.S837Y(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCGGTACACAGAGAGGAGGTA	0.547																																					GBM(136;1332 1831 3115 23601 50806)	dbGAP											2	Substitution - Missense(2)	breast(2)											87.0	62.0	71.0					22																	21119129		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.2510C>A	22.37:g.21119129G>T	ENSP00000458238:p.Ser837Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z625|Q9UPG2	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.S895Y	ENST00000572273.1	37	c.2684		22	.	.	.	.	.	.	.	.	.	.	G	33	5.280988	0.95489	.	.	ENSG00000241973	ENST00000255882	T	0.49139	0.79	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.71558	0.3354	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75031	-0.3461	10	0.87932	D	0	-20.498	19.2631	0.93975	0.0:0.0:1.0:0.0	.	837	P42356	PI4KA_HUMAN	Y	837	ENSP00000255882:S837Y	ENSP00000255882:S837Y	S	-	2	0	PI4KA	19449129	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	9.798000	0.99111	2.540000	0.85666	0.650000	0.86243	TCT	PI4KA	-	superfamily_ARM-type_fold	ENSG00000241973		0.547	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		55	0.00	0	G	NM_058004		21119129	21119129	-1	no_errors	ENST00000255882	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	1.000	T
PLCE1	51196	genome.wustl.edu	37	10	96018630	96018630	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr10:96018630G>A	ENST00000371380.3	+	11	3863	c.3628G>A	c.(3628-3630)Gat>Aat	p.D1210N	PLCE1_ENST00000260766.3_Missense_Mutation_p.D1210N|PLCE1_ENST00000371375.1_Missense_Mutation_p.D902N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D902N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1210					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.D902N(1)|p.D1210N(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CATGGTTTCAGATAGCAACAT	0.453																																						dbGAP											2	Substitution - Missense(2)	breast(2)											199.0	188.0	191.0					10																	96018630		1918	4132	6050	-	-	-	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.3628G>A	10.37:g.96018630G>A	ENSP00000360431:p.Asp1210Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.D1210N	ENST00000371380.3	37	c.3628	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.426528	0.96131	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	L	0.53249	1.67	0.52501	D	0.999957	D;D;D	0.89917	1.0;1.0;0.973	D;D;D	0.91635	0.998;0.999;0.929	T	0.60429	-0.7265	10	0.51188	T	0.08	.	19.6818	0.95967	0.0:0.0:1.0:0.0	.	1194;902;1210	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	N	1210;1210;902;902	ENSP00000260766:D1210N;ENSP00000360431:D1210N;ENSP00000360438:D902N;ENSP00000360426:D902N	ENSP00000260766:D1210N	D	+	1	0	PLCE1	96008620	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.378000	0.97191	2.729000	0.93468	0.555000	0.69702	GAT	PLCE1	-	NULL	ENSG00000138193		0.453	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	437	0.00	0	G	NM_016341		96018630	96018630	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	missense	278	12.30	39	SNP	1.000	A
PLEKHG5	57449	genome.wustl.edu	37	1	6530627	6530628	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:6530627_6530628insC	ENST00000400915.3	-	16	1852_1853	c.1786_1787insG	c.(1786-1788)gccfs	p.A596fs	PLEKHG5_ENST00000377740.3_Frame_Shift_Ins_p.A617fs|PLEKHG5_ENST00000377732.1_Frame_Shift_Ins_p.A577fs|PLEKHG5_ENST00000377728.3_Frame_Shift_Ins_p.A540fs|PLEKHG5_ENST00000537245.1_Frame_Shift_Ins_p.A619fs|PLEKHG5_ENST00000377748.1_Frame_Shift_Ins_p.A617fs|PLEKHG5_ENST00000400913.1_Frame_Shift_Ins_p.A540fs|PLEKHG5_ENST00000377737.2_Frame_Shift_Ins_p.A540fs|PLEKHG5_ENST00000377725.1_Frame_Shift_Ins_p.A540fs|PLEKHG5_ENST00000544978.1_Frame_Shift_Ins_p.A540fs|PLEKHG5_ENST00000535355.1_Frame_Shift_Ins_p.A609fs|PLEKHG5_ENST00000340850.5_Frame_Shift_Ins_p.A540fs	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	596					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		GCTCACCACGGCCGCCAGCCGC	0.678																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.1787dupG	1.37:g.6530629_6530629dupC	ENSP00000383706:p.Ala596fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Frame_Shift_Ins	INS	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A619fs	ENST00000400915.3	37	c.1856_1855	CCDS41241.1	1																																																																																			PLEKHG5	-	superfamily_DH-domain	ENSG00000171680		0.678	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	9	0.00	0	-	NM_020631		6530627	6530628	-1	no_errors	ENST00000537245	ensembl	human	known	69_37n	frame_shift_ins	3	40.00	2	INS	0.996:0.991	C
PPOX	5498	genome.wustl.edu	37	1	161140244	161140244	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:161140244G>C	ENST00000367999.4	+	10	1299	c.1033G>C	c.(1033-1035)Gga>Cga	p.G345R	PPOX_ENST00000432542.2_Missense_Mutation_p.G90R|PPOX_ENST00000352210.5_Missense_Mutation_p.G345R|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000535223.1_Intron|B4GALT3_ENST00000470882.1_5'Flank	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	345					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)	p.G345R(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGGAGTCCTGGGAATCGTGTA	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											103.0	96.0	99.0					1																	161140244		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1033G>C	1.37:g.161140244G>C	ENSP00000356978:p.Gly345Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVG0|Q5VTW8	Missense_Mutation	SNP	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	p.G345R	ENST00000367999.4	37	c.1033	CCDS1221.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.016798|4.016798	0.75161|0.75161	.|.	.|.	ENSG00000143224|ENSG00000143224	ENST00000352210;ENST00000367999;ENST00000435935;ENST00000432542|ENST00000537523;ENST00000537829	D;D;D|.	0.98381|.	-4.9;-4.9;-4.9|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Amine oxidase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83834|0.83834	0.5340|0.5340	M|M	0.93328|0.93328	3.405|3.405	0.49130|0.49130	D|D	0.999756|0.999756	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0|.	D|D	0.86942|0.86942	0.2080|0.2080	10|5	0.87932|.	D|.	0|.	-9.4866|-9.4866	14.8379|14.8379	0.70197|0.70197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	90;16;183;345|.	B4DQQ7;Q96SE3;B3KT30;P50336|.	.;.;.;PPOX_HUMAN|.	R|C	345;345;312;90|97;67	ENSP00000343943:G345R;ENSP00000356978:G345R;ENSP00000396841:G90R|.	ENSP00000343943:G345R|.	G|W	+|+	1|3	0|0	PPOX|PPOX	159406868|159406868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.747000|7.747000	0.85070|0.85070	2.879000|2.879000	0.98667|0.98667	0.650000|0.650000	0.86243|0.86243	GGA|TGG	PPOX	-	pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase	ENSG00000143224		0.537	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PPOX	HGNC	protein_coding	OTTHUMT00000082993.1	199	0.00	0	G	NM_000309		161140244	161140244	+1	no_errors	ENST00000352210	ensembl	human	known	69_37n	missense	156	11.36	20	SNP	1.000	C
PLXNA2	5362	genome.wustl.edu	37	1	208391168	208391168	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:208391168C>T	ENST00000367033.3	-	2	857	c.100G>A	c.(100-102)Ggc>Agc	p.G34S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	34					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G34S(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGAGGCATGCCGGCTGCTGGG	0.657																																						dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	55.0	54.0					1																	208391168		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.100G>A	1.37:g.208391168C>T	ENSP00000356000:p.Gly34Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G34S	ENST00000367033.3	37	c.100	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	C	5.402	0.259396	0.10239	.	.	ENSG00000076356	ENST00000367033	T	0.00784	5.7	5.83	3.0	0.34707	Semaphorin/CD100 antigen (1);	.	.	.	.	T	0.00580	0.0019	N	0.19112	0.55	0.23577	N	0.997376	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.001	T	0.45585	-0.9251	9	0.08599	T	0.76	.	5.4284	0.16440	0.1274:0.5437:0.0:0.3289	.	88;34	O75051-2;O75051	.;PLXA2_HUMAN	S	34	ENSP00000356000:G34S	ENSP00000356000:G34S	G	-	1	0	PLXNA2	206457791	0.001000	0.12720	0.260000	0.24451	0.202000	0.24057	-0.103000	0.10940	0.406000	0.25560	-0.142000	0.14014	GGC	PLXNA2	-	pfscan_Semaphorin/CD100_Ag	ENSG00000076356		0.657	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	82	0.00	0	C	NM_025179		208391168	208391168	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	0.350	T
PRODH2	58510	genome.wustl.edu	37	19	36303324	36303324	+	Silent	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr19:36303324G>A	ENST00000301175.3	-	3	554	c.537C>T	c.(535-537)ctC>ctT	p.L179L		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	179					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GTCGGAGGCTGAGGGTCCGCA	0.652																																						dbGAP											0													47.0	48.0	48.0					19																	36303324		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.537C>T	19.37:g.36303324G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Proline_DH	p.L179	ENST00000301175.3	37	c.537	CCDS12478.1	19																																																																																			PRODH2	-	NULL	ENSG00000250799		0.652	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRODH2	HGNC	protein_coding	OTTHUMT00000452552.2	57	0.00	0	G	NM_021232		36303324	36303324	-1	no_errors	ENST00000301175	ensembl	human	known	69_37n	silent	42	14.29	7	SNP	0.000	A
PRPS2	5634	genome.wustl.edu	37	X	12817443	12817443	+	Silent	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chrX:12817443G>A	ENST00000380668.5	+	2	368	c.240G>A	c.(238-240)gcG>gcA	p.A80A	PRPS2_ENST00000398491.2_Silent_p.A80A|PRPS2_ENST00000489404.1_Silent_p.A80A	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	80					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.A80A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCAAGATTGCGTCATCATCCA	0.512																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											172.0	146.0	155.0					X																	12817443		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.240G>A	X.37:g.12817443G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Silent	SNP	pfam_PRibTrfase,tigrfam_Rib-P_diPkinase	p.A80	ENST00000380668.5	37	c.240	CCDS14150.1	X																																																																																			PRPS2	-	tigrfam_Rib-P_diPkinase	ENSG00000101911		0.512	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	168	0.00	0	G	NM_002765		12817443	12817443	+1	no_errors	ENST00000398491	ensembl	human	known	69_37n	silent	114	11.54	15	SNP	0.006	A
PSD	5662	genome.wustl.edu	37	10	104170687	104170687	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr10:104170687C>T	ENST00000020673.5	-	10	2545	c.2019G>A	c.(2017-2019)atG>atA	p.M673I	PSD_ENST00000406432.1_Missense_Mutation_p.M673I	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	673	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.M458I(1)|p.M673I(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CCCCGCAGGTCATGCGCTTCC	0.627																																						dbGAP											2	Substitution - Missense(2)	breast(2)											69.0	71.0	70.0					10																	104170687		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2019G>A	10.37:g.104170687C>T	ENSP00000020673:p.Met673Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.M673I	ENST00000020673.5	37	c.2019	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	C	33	5.239989	0.95240	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.62498	0.02;0.02	4.7	4.7	0.59300	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.160497	0.64402	D	0.000014	D	0.82342	0.5016	M	0.91920	3.255	0.58432	D	0.999997	P	0.37688	0.605	P	0.55055	0.767	D	0.85807	0.1377	10	0.87932	D	0	.	17.4395	0.87562	0.0:1.0:0.0:0.0	.	673	A5PKW4	PSD1_HUMAN	I	673;576;673	ENSP00000020673:M673I;ENSP00000384830:M673I	ENSP00000020673:M673I	M	-	3	0	PSD	104160677	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.644000	0.83416	2.442000	0.82660	0.542000	0.68232	ATG	PSD	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7	ENSG00000059915		0.627	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	59	0.00	0	C			104170687	104170687	-1	no_errors	ENST00000020673	ensembl	human	known	69_37n	missense	25	26.47	9	SNP	1.000	T
PTPN13	5783	genome.wustl.edu	37	4	87643534	87643534	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr4:87643534G>A	ENST00000411767.2	+	10	1618	c.1555G>A	c.(1555-1557)Gat>Aat	p.D519N	PTPN13_ENST00000316707.6_Missense_Mutation_p.D519N|PTPN13_ENST00000436978.1_Missense_Mutation_p.D519N|PTPN13_ENST00000511467.1_Missense_Mutation_p.D519N|PTPN13_ENST00000427191.2_Missense_Mutation_p.D519N			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	519					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.D519N(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATCACCAGGGATCCGTTAAG	0.458																																						dbGAP											1	Substitution - Missense(1)	breast(1)											143.0	135.0	137.0					4																	87643534		1921	4139	6060	-	-	-	SO:0001583	missense	0				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1555G>A	4.37:g.87643534G>A	ENSP00000407249:p.Asp519Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.D519N	ENST00000411767.2	37	c.1555	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928883	0.92389	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.32988	1.43;1.43;1.43;1.43;1.43	4.92	4.92	0.64577	.	0.000000	0.47852	D	0.000214	T	0.55386	0.1917	M	0.69823	2.125	0.52099	D	0.999947	P;D;D;D	0.89917	0.676;1.0;1.0;1.0	P;D;D;D	0.85130	0.45;0.997;0.989;0.995	T	0.51348	-0.8717	10	0.30078	T	0.28	.	18.4798	0.90807	0.0:0.0:1.0:0.0	.	519;519;519;519	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	N	519;519;519;519;519;487	ENSP00000408368:D519N;ENSP00000394794:D519N;ENSP00000322675:D519N;ENSP00000407249:D519N;ENSP00000426626:D519N	ENSP00000322675:D519N	D	+	1	0	PTPN13	87862558	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.103000	0.77014	2.444000	0.82710	0.655000	0.94253	GAT	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13	ENSG00000163629		0.458	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	144	0.00	0	G			87643534	87643534	+1	no_errors	ENST00000436978	ensembl	human	known	69_37n	missense	85	19.63	21	SNP	1.000	A
PTPRD	5789	genome.wustl.edu	37	9	8524958	8524958	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:8524958G>C	ENST00000381196.4	-	15	1189	c.646C>G	c.(646-648)Cgc>Ggc	p.R216G	PTPRD_ENST00000397617.3_Missense_Mutation_p.R210G|PTPRD_ENST00000540109.1_Missense_Mutation_p.R216G|PTPRD_ENST00000356435.5_Missense_Mutation_p.R216G|PTPRD_ENST00000397606.3_Missense_Mutation_p.R210G|PTPRD_ENST00000397611.3_Missense_Mutation_p.R213G|PTPRD_ENST00000537002.1_Missense_Mutation_p.R213G|PTPRD_ENST00000360074.4_Missense_Mutation_p.R207G|PTPRD_ENST00000358503.5_Missense_Mutation_p.R207G|PTPRD_ENST00000355233.5_Missense_Mutation_p.R216G|PTPRD_ENST00000486161.1_Missense_Mutation_p.R216G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	216	Ig-like C2-type 2.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R216G(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		gcggaatagcGAGTGCCCGCG	0.493										TSP Lung(15;0.13)																												dbGAP											4	Substitution - Missense(4)	breast(4)											125.0	126.0	125.0					9																	8524958		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.646C>G	9.37:g.8524958G>C	ENSP00000370593:p.Arg216Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.R216G	ENST00000381196.4	37	c.646	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	18.40	3.615873	0.66672	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.96	5.96	0.96718	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.101607	0.64402	D	0.000001	T	0.74107	0.3673	N	0.25957	0.775	0.80722	D	1	D;D;D;D;D;D;B;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.02;0.999;0.984	D;D;D;D;D;D;B;D;D	0.91635	0.997;0.999;0.996;0.999;0.965;0.999;0.001;0.939;0.98	T	0.70378	-0.4888	9	.	.	.	.	20.4082	0.99013	0.0:0.0:1.0:0.0	.	210;210;216;216;213;213;207;216;216	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	G	216;216;207;207;216;210;213;213;216;216;216;210	ENSP00000370593:R216G;ENSP00000348812:R216G;ENSP00000353187:R207G;ENSP00000351293:R207G;ENSP00000347373:R216G;ENSP00000380741:R210G;ENSP00000380735:R213G;ENSP00000440515:R213G;ENSP00000438164:R216G;ENSP00000417093:R216G;ENSP00000380731:R210G	.	R	-	1	0	PTPRD	8514958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.802000	0.99131	2.814000	0.96858	0.655000	0.94253	CGC	PTPRD	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000153707		0.493	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	134	0.00	0	G			8524958	8524958	-1	no_errors	ENST00000356435	ensembl	human	known	69_37n	missense	72	13.95	12	SNP	1.000	C
RAD51C	5889	genome.wustl.edu	37	17	56811530	56811530	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:56811530G>C	ENST00000337432.4	+	9	1149	c.1078G>C	c.(1078-1080)Gaa>Caa	p.E360Q		NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	360					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.E360Q(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATTGCAAACAGAAGGTTCCTT	0.353								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													dbGAP											1	Substitution - Missense(1)	breast(1)											58.0	57.0	58.0					17																	56811530		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	BRCAX	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.1078G>C	17.37:g.56811530G>C	ENSP00000336701:p.Glu360Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O43503|Q3B783	Missense_Mutation	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.E360Q	ENST00000337432.4	37	c.1078	CCDS11611.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.97|12.97	2.096918|2.096918	0.37048|0.37048	.|.	.|.	ENSG00000108384|ENSG00000108384	ENST00000337432|ENST00000413590	T|.	0.45668|.	0.89|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	2.091340|.	0.01975|.	N|.	0.044406|.	T|T	0.65333|0.65333	0.2681|0.2681	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P|.	0.37466|.	0.596|.	B|.	0.32289|.	0.143|.	T|T	0.62215|0.62215	-0.6901|-0.6901	10|5	0.49607|.	T|.	0.09|.	-19.1703|-19.1703	13.9908|13.9908	0.64364|0.64364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	360|.	O43502|.	RA51C_HUMAN|.	Q|T	360|240	ENSP00000336701:E360Q|.	ENSP00000336701:E360Q|.	E|R	+|+	1|2	0|0	RAD51C|RAD51C	54166529|54166529	0.998000|0.998000	0.40836|0.40836	0.994000|0.994000	0.49952|0.49952	0.291000|0.291000	0.27294|0.27294	2.297000|2.297000	0.43593|0.43593	2.767000|2.767000	0.95098|0.95098	0.563000|0.563000	0.77884|0.77884	GAA|AGA	RAD51C	-	NULL	ENSG00000108384		0.353	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD51C	HGNC	protein_coding	OTTHUMT00000280540.2	112	0.00	0	G	NM_058216		56811530	56811530	+1	no_errors	ENST00000337432	ensembl	human	known	69_37n	missense	115	54.51	139	SNP	0.996	C
RAPGEF6	51735	genome.wustl.edu	37	5	130797633	130797633	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr5:130797633G>A	ENST00000509018.1	-	19	2834	c.2629C>T	c.(2629-2631)Cgt>Tgt	p.R877C	RAPGEF6_ENST00000512052.1_Missense_Mutation_p.R592C|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R882C|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R877C|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R877C|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R927C|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R877C	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	877	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.R877C(2)|p.R927C(1)|p.R882C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCAATATTACGAAACAAATCA	0.408																																					Melanoma(168;435 1955 13113 13877 23213)	dbGAP											4	Substitution - Missense(4)	breast(4)											100.0	98.0	99.0					5																	130797633		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.2629C>T	5.37:g.130797633G>A	ENSP00000421684:p.Arg877Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.R877C	ENST00000509018.1	37	c.2629	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561234	0.45590	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4	5.69	4.79	0.61399	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.37507	1.11	0.80722	D	1	B;B;P;B;B;B;B	0.36633	0.429;0.161;0.562;0.245;0.429;0.375;0.452	B;B;B;B;B;B;B	0.37989	0.178;0.055;0.148;0.087;0.178;0.076;0.262	T	0.16689	-1.0394	10	0.66056	D	0.02	.	15.4412	0.75184	0.0:0.0:0.8444:0.1556	.	877;877;877;592;927;882;877	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	C	877;882;877;877;882;592;877;927	ENSP00000421684:R877C;ENSP00000309298:R882C;ENSP00000426081:R877C;ENSP00000296859:R877C;ENSP00000426910:R592C;ENSP00000311419:R877C;ENSP00000426948:R927C	ENSP00000426948:R927C	R	-	1	0	RAPGEF6;FNIP1	130825532	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.284000	0.58983	1.317000	0.45149	0.655000	0.94253	CGT	RAPGEF6	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000158987		0.408	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	86	0.00	0	G	NM_016340		130797633	130797633	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	missense	61	14.08	10	SNP	1.000	A
RNF20	56254	genome.wustl.edu	37	9	104313065	104313065	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:104313065G>A	ENST00000389120.3	+	10	1360	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	424					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E424K(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TGAGCTTATTGAGGTAATAGC	0.438																																						dbGAP											1	Substitution - Missense(1)	breast(1)											163.0	177.0	172.0					9																	104313065		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1270G>A	9.37:g.104313065G>A	ENSP00000373772:p.Glu424Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.E424K	ENST00000389120.3	37	c.1270	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	G	23.6	4.429826	0.83776	.	.	ENSG00000155827	ENST00000389120	T	0.41758	0.99	5.83	5.83	0.93111	.	0.043402	0.85682	D	0.000000	T	0.62696	0.2449	M	0.71036	2.16	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.54111	-0.8342	10	0.14252	T	0.57	-25.234	19.7091	0.96085	0.0:0.0:1.0:0.0	.	424	Q5VTR2	BRE1A_HUMAN	K	424	ENSP00000373772:E424K	ENSP00000373772:E424K	E	+	1	0	RNF20	103352886	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	9.209000	0.95087	2.763000	0.94921	0.585000	0.79938	GAG	RNF20	-	NULL	ENSG00000155827		0.438	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	332	0.00	0	G	NM_019592		104313065	104313065	+1	no_errors	ENST00000389120	ensembl	human	known	69_37n	missense	168	11.98	23	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78313852	78313852	+	Silent	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:78313852G>C	ENST00000582970.1	+	26	5828	c.5685G>C	c.(5683-5685)ctG>ctC	p.L1895L	RNF213_ENST00000508628.2_Silent_p.L1944L|RNF213_ENST00000336301.6_5'Flank	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1895					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACAGCCTGCTGTTCGCAGATC	0.622																																						dbGAP											0													39.0	40.0	40.0					17																	78313852		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.5685G>C	17.37:g.78313852G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L1895	ENST00000582970.1	37	c.5685	CCDS58606.1	17																																																																																			RNF213	-	NULL	ENSG00000173821		0.622	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	60	0.00	0	G	NM_020914		78313852	78313852	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	silent	32	11.11	4	SNP	0.565	C
RPAP1	26015	genome.wustl.edu	37	15	41823388	41823388	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr15:41823388A>T	ENST00000304330.4	-	7	892	c.776T>A	c.(775-777)gTt>gAt	p.V259D	RPAP1_ENST00000561603.1_Missense_Mutation_p.V259D|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	259						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.V259D(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAAGAAAGCAACCAAGCTGGG	0.567																																						dbGAP											1	Substitution - Missense(1)	breast(1)											134.0	130.0	131.0					15																	41823388		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.776T>A	15.37:g.41823388A>T	ENSP00000306123:p.Val259Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.V259D	ENST00000304330.4	37	c.776	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	A	17.98	3.521237	0.64747	.	.	ENSG00000103932	ENST00000304330	T	0.20200	2.09	5.36	5.36	0.76844	RNA polymerase II-associated protein 1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	M	0.86343	2.81	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.57619	-0.7780	10	0.87932	D	0	-13.3785	11.7501	0.51843	1.0:0.0:0.0:0.0	.	259	Q9BWH6	RPAP1_HUMAN	D	259	ENSP00000306123:V259D	ENSP00000306123:V259D	V	-	2	0	RPAP1	39610680	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	5.190000	0.65104	2.037000	0.60232	0.460000	0.39030	GTT	RPAP1	-	pfam_RNA_pol_II_AP1_N	ENSG00000103932		0.567	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	80	0.00	0	A	NM_015540		41823388	41823388	-1	no_errors	ENST00000304330	ensembl	human	known	69_37n	missense	93	19.13	22	SNP	1.000	T
RXFP3	51289	genome.wustl.edu	37	5	33937086	33937086	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr5:33937086C>T	ENST00000330120.3	+	1	596	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	81					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.R81R(2)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GGCCCGGGTGCGGATTCTCAT	0.687																																						dbGAP											2	Substitution - coding silent(2)	lung(2)											56.0	62.0	60.0					5																	33937086		2203	4299	6502	-	-	-	SO:0001583	missense	0			D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.241C>T	5.37:g.33937086C>T	ENSP00000328708:p.Arg81Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14DA5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt	p.R81W	ENST00000330120.3	37	c.241	CCDS3900.1	5	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625284	0.46840	.	.	ENSG00000182631	ENST00000330120	T	0.24538	1.85	5.43	3.62	0.41486	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	L	0.27053	0.805	0.47183	D	0.999341	D	0.89917	1.0	D	0.75020	0.985	T	0.14062	-1.0486	10	0.62326	D	0.03	-38.9434	13.7034	0.62622	0.405:0.595:0.0:0.0	.	81	Q9NSD7	RL3R1_HUMAN	W	81	ENSP00000328708:R81W	ENSP00000328708:R81W	R	+	1	2	RXFP3	33972843	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	0.952000	0.29149	0.746000	0.32786	-0.181000	0.13052	CGG	RXFP3	-	NULL	ENSG00000182631		0.687	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP3	HGNC	protein_coding	OTTHUMT00000207369.1	68	0.00	0	C	NM_016568		33937086	33937086	+1	no_errors	ENST00000330120	ensembl	human	known	69_37n	missense	28	22.22	8	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23906002	23906002	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr13:23906002G>A	ENST00000382292.3	-	9	12286	c.12013C>T	c.(12013-12015)Ctc>Ttc	p.L4005F	SACS_ENST00000382298.3_Missense_Mutation_p.L4005F|SACS_ENST00000402364.1_Missense_Mutation_p.L3255F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4005					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.L3858F(1)|p.L4005F(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GAAGACAAGAGTAACTGCAAT	0.363																																						dbGAP											2	Substitution - Missense(2)	breast(2)											79.0	82.0	81.0					13																	23906002		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12013C>T	13.37:g.23906002G>A	ENSP00000371729:p.Leu4005Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.L4005F	ENST00000382292.3	37	c.12013	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804005	0.50315	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90004	-2.45;-2.6;-2.45	5.64	4.77	0.60923	.	0.061993	0.64402	D	0.000003	D	0.86020	0.5833	L	0.29908	0.895	0.43467	D	0.995671	D	0.53151	0.958	P	0.53062	0.717	D	0.84433	0.0578	10	0.44086	T	0.13	.	7.1655	0.25687	0.1442:0.1448:0.7111:0.0	.	4005	Q9NZJ4	SACS_HUMAN	F	4005;3255;4005	ENSP00000371729:L4005F;ENSP00000385844:L3255F;ENSP00000371735:L4005F	ENSP00000371729:L4005F	L	-	1	0	SACS	22804002	1.000000	0.71417	0.446000	0.26920	0.949000	0.60115	2.369000	0.44231	1.313000	0.45069	0.655000	0.94253	CTC	SACS	-	NULL	ENSG00000151835		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	138	0.00	0	G	NM_014363		23906002	23906002	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	missense	50	25.37	17	SNP	1.000	A
SCML1	6322	genome.wustl.edu	37	X	17768275	17768275	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chrX:17768275G>T	ENST00000380041.3	+	6	893	c.565G>T	c.(565-567)Gag>Tag	p.E189*	SCML1_ENST00000380045.3_Nonsense_Mutation_p.E68*|SCML1_ENST00000380043.3_Nonsense_Mutation_p.E162*|SCML1_ENST00000398080.1_Nonsense_Mutation_p.E68*	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	189					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E189*(1)|p.E68*(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					AGATTTCTCTGAGCATAATTG	0.537																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											115.0	100.0	105.0					X																	17768275		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.565G>T	X.37:g.17768275G>T	ENSP00000369380:p.Glu189*	Somatic		WXS	Illumina GAIIx	Phase_IV	B0FZN6|B2RA08|Q5H968|Q5H969	Nonsense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E189*	ENST00000380041.3	37	c.565	CCDS35210.1	X	.	.	.	.	.	.	.	.	.	.	G	13.11	2.137955	0.37728	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080	.	.	.	2.5	-5.0	0.03001	.	4.847220	0.00988	U	0.003491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	6.182	0.9568	0.01387	0.209:0.1561:0.3492:0.2856	.	.	.	.	X	68;189;162;68	.	ENSP00000369380:E189X	E	+	1	0	SCML1	17678196	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.463000	0.00462	-5.272000	0.00018	-1.146000	0.01853	GAG	SCML1	-	NULL	ENSG00000047634		0.537	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCML1	HGNC	protein_coding	OTTHUMT00000060495.5	197	0.00	0	G	NM_006746		17768275	17768275	+1	no_errors	ENST00000380041	ensembl	human	known	69_37n	nonsense	54	28.00	21	SNP	0.000	T
SDHAP1	255812	genome.wustl.edu	37	3	195704007	195704007	+	RNA	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr3:195704007C>T	ENST00000427841.1	-	0	1137					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTAGACGCCAGGTCCTTCG	0.567																																					Ovarian(67;1158 1227 12109 20189 43170)	dbGAP											0																																										-	-	-			0			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195704007C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-	ENSG00000185485		0.567	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	27	0.00	0	C			195704007	195704007	-1	no_errors	ENST00000427841	ensembl	human	known	69_37n	rna	18	28.00	7	SNP	1.000	T
SETBP1	26040	genome.wustl.edu	37	18	42643228	42643228	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr18:42643228G>C	ENST00000282030.5	+	6	4652	c.4356G>C	c.(4354-4356)aaG>aaC	p.K1452N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1452						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCGTGAAGAAGAGGCGCGGGC	0.547									Schinzel-Giedion syndrome																													dbGAP											0													40.0	36.0	37.0					18																	42643228		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4356G>C	18.37:g.42643228G>C	ENSP00000282030:p.Lys1452Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	smart_AT_hook_DNA-bd_motif	p.K1452N	ENST00000282030.5	37	c.4356	CCDS11923.2	18	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855957	0.71834	.	.	ENSG00000152217	ENST00000282030	T	0.73897	-0.79	5.16	4.04	0.47022	AT hook, DNA-binding motif (1);	0.062472	0.64402	D	0.000008	T	0.75287	0.3829	L	0.29908	0.895	0.39478	D	0.967847	D	0.67145	0.996	P	0.61477	0.889	T	0.78460	-0.2195	10	0.72032	D	0.01	.	12.1844	0.54229	0.1212:0.0:0.8788:0.0	.	1452	Q9Y6X0	SETBP_HUMAN	N	1452	ENSP00000282030:K1452N	ENSP00000282030:K1452N	K	+	3	2	SETBP1	40897226	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.621000	0.46418	2.556000	0.86216	0.563000	0.77884	AAG	SETBP1	-	smart_AT_hook_DNA-bd_motif	ENSG00000152217		0.547	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETBP1	HGNC	protein_coding	OTTHUMT00000255854.4	70	0.00	0	G	NM_001130110		42643228	42643228	+1	no_errors	ENST00000282030	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	1.000	C
SHD	56961	genome.wustl.edu	37	19	4284824	4284824	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr19:4284824G>T	ENST00000543264.2	+	4	2102	c.639G>T	c.(637-639)aaG>aaT	p.K213N	SHD_ENST00000599689.1_Missense_Mutation_p.K213N|SHD_ENST00000600475.1_3'UTR	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	213								p.K213N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCAGCCAAGGAGCTCCGGA	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											45.0	50.0	48.0					19																	4284824		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007206	CCDS12125.1	19p13.3	2013-02-14				ENSG00000105251		"""SH2 domain containing"""	30633	protein-coding gene	gene with protein product		610481				9315092	Standard	NM_020209		Approved		uc002lzw.2	Q96IW2		ENST00000543264.2:c.639G>T	19.37:g.4284824G>T	ENSP00000446058:p.Lys213Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96NC2	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.K213N	ENST00000543264.2	37	c.639	CCDS12125.1	19	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909055	0.52439	.	.	ENSG00000105251	ENST00000543264;ENST00000221852	T	0.37584	1.19	4.44	3.37	0.38596	.	0.183780	0.47093	D	0.000259	T	0.24661	0.0598	L	0.40543	1.245	0.34366	D	0.69151	B;P	0.42827	0.185;0.791	B;B	0.39419	0.093;0.299	T	0.28776	-1.0033	10	0.23302	T	0.38	-20.5593	6.2752	0.20977	0.2352:0.0:0.7648:0.0	.	120;213	Q9NPN8;Q96IW2	.;SHD_HUMAN	N	213;128	ENSP00000446058:K213N	ENSP00000221852:K128N	K	+	3	2	SHD	4235824	0.978000	0.34361	1.000000	0.80357	0.938000	0.57974	1.055000	0.30467	1.023000	0.39654	0.491000	0.48974	AAG	SHD	-	NULL	ENSG00000105251		0.622	SHD-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SHD	HGNC	protein_coding	OTTHUMT00000458082.1	36	0.00	0	G	NM_020209		4284824	4284824	+1	no_errors	ENST00000543264	ensembl	human	known	69_37n	missense	27	20.59	7	SNP	1.000	T
SIGLEC14	100049587	genome.wustl.edu	37	19	52149665	52149665	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr19:52149665C>T	ENST00000360844.6	-	2	307	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	SIGLEC5_ENST00000222107.4_Missense_Mutation_p.R89Q|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R89Q|SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	89	Ig-like V-type.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.R89Q(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GAGGCGGAATCGGCCCTGGGT	0.567																																						dbGAP											2	Substitution - Missense(2)	breast(2)											14.0	17.0	16.0					19																	52149665		1648	3761	5409	-	-	-	SO:0001583	missense	0			AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.266G>A	19.37:g.52149665C>T	ENSP00000354090:p.Arg89Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UXG0	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R89Q	ENST00000360844.6	37	c.266	CCDS42604.1	19	.	.	.	.	.	.	.	.	.	.	C	17.25	3.340956	0.60963	.	.	ENSG00000105501;ENSG00000254415	ENST00000222107;ENST00000360844	T;T	0.60171	0.21;0.21	3.19	3.19	0.36642	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36200	N	0.002731	T	0.75838	0.3904	M	0.86502	2.82	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65903	-0.6055	10	0.87932	D	0	.	10.0398	0.42151	0.0:1.0:0.0:0.0	.	89	Q08ET2	SIG14_HUMAN	Q	89	ENSP00000222107:R89Q;ENSP00000354090:R89Q	ENSP00000354090:R89Q	R	-	2	0	SIGLEC5;SIGLEC14	56841477	0.023000	0.18921	0.035000	0.18076	0.037000	0.13140	1.827000	0.39102	1.812000	0.52913	0.508000	0.49915	CGA	SIGLEC5	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000105501		0.567	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC5	HGNC	protein_coding	OTTHUMT00000466899.2	161	0.00	0	C	NM_001098612		52149665	52149665	-1	no_errors	ENST00000222107	ensembl	human	known	69_37n	missense	94	21.67	26	SNP	0.172	T
SLC16A11	162515	genome.wustl.edu	37	17	6945481	6945482	+	Frame_Shift_Ins	INS	-	-	C	rs374437213		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:6945481_6945482insC	ENST00000308009.1	-	3	1356_1357	c.1019_1020insG	c.(1018-1020)ggtfs	p.G340fs	SLC16A11_ENST00000447225.1_Frame_Shift_Ins_p.G308fs	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	340			G -> S (associated with susceptibility to NIDDM; dbSNP:rs75418188). {ECO:0000269|PubMed:24390345}.		lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CCAGCAGGGGACCCCCCCAGCT	0.733																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1020dupG	17.37:g.6945488_6945488dupC	ENSP00000310490:p.Gly340fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P341fs	ENST00000308009.1	37	c.1020_1019	CCDS11086.1	17																																																																																			SLC16A11	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000174326		0.733	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	HGNC	protein_coding	OTTHUMT00000219921.1	29	0.00	0	-	NM_153357		6945481	6945482	-1	no_errors	ENST00000308009	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.001:0.191	C
SLC25A11	8402	genome.wustl.edu	37	17	4842372	4842372	+	Silent	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:4842372C>G	ENST00000225665.7	-	2	571	c.231G>C	c.(229-231)ctG>ctC	p.L77L	RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|SLC25A11_ENST00000544061.2_Intron|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000571816.1_5'Flank|RNF167_ENST00000572430.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	77					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)	p.L77L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AAATGCCCCTCAGGCCTTCTG	0.567																																					Esophageal Squamous(144;1178 2388 18010 48797)	dbGAP											1	Substitution - coding silent(1)	breast(1)											122.0	115.0	117.0					17																	4842372		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.231G>C	17.37:g.4842372C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	F5GY65|O75537|Q969P7	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L77	ENST00000225665.7	37	c.231	CCDS11059.1	17																																																																																			SLC25A11	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000108528		0.567	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A11	HGNC	protein_coding	OTTHUMT00000216852.4	161	0.00	0	C	NM_003562		4842372	4842372	-1	no_errors	ENST00000225665	ensembl	human	known	69_37n	silent	73	17.98	16	SNP	0.006	G
SLC25A25	114789	genome.wustl.edu	37	9	130868675	130868675	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr9:130868675C>T	ENST00000373064.5	+	8	1213	c.950C>T	c.(949-951)tCa>tTa	p.S317L	SLC25A25_ENST00000432073.2_Missense_Mutation_p.S337L|SLC25A25_ENST00000373068.2_Missense_Mutation_p.S351L|SLC25A25_ENST00000373069.5_Missense_Mutation_p.S363L|RP11-395P17.11_ENST00000602939.1_RNA|SLC25A25_ENST00000433501.1_Missense_Mutation_p.S214L|SLC25A25_ENST00000373066.5_Missense_Mutation_p.S349L	NM_052901.4	NP_443133.2	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	317					adipose tissue development (GO:0060612)|ATP metabolic process (GO:0046034)|calcium ion transmembrane transport (GO:0070588)|camera-type eye development (GO:0043010)|cellular respiration (GO:0045333)|multicellular organism growth (GO:0035264)|response to activity (GO:0014823)|response to dietary excess (GO:0002021)|response to food (GO:0032094)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)	p.S351L(1)|p.S337L(1)|p.S317L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GGCCAGTACTCAGGAATGCTG	0.632																																						dbGAP											3	Substitution - Missense(3)	breast(3)											59.0	53.0	55.0					9																	130868675		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ619963	CCDS6890.1, CCDS35151.1, CCDS48031.1, CCDS59146.1	9q34	2013-05-22			ENSG00000148339	ENSG00000148339		"""Solute carriers"", ""EF-hand domain containing"""	20663	protein-coding gene	gene with protein product		608745				15123600	Standard	NM_052901		Approved	KIAA1896, PCSCL, MCSC	uc004btb.4	Q6KCM7	OTTHUMG00000020736	ENST00000373064.5:c.950C>T	9.37:g.130868675C>T	ENSP00000362155:p.Ser317Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SYW7|Q5SYW8|Q5SYX3|Q5VWU2|Q5VWU3|Q5VWU4|Q6KCM4|Q6KCM6|Q6UX48|Q705K2|Q96PZ1|Q9BSA6	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,prints_Mit_carrier,prints_Graves_DC,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier	p.S363L	ENST00000373064.5	37	c.1088	CCDS6890.1	9	.	.	.	.	.	.	.	.	.	.	C	18.81	3.702200	0.68501	.	.	ENSG00000148339	ENST00000373068;ENST00000373069;ENST00000432073;ENST00000373066;ENST00000373064;ENST00000433501	T;T;T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29;-1.29;-1.29	5.67	4.76	0.60689	Mitochondrial carrier domain (2);	0.317431	0.35235	N	0.003347	T	0.72309	0.3444	L	0.38692	1.165	0.53005	D	0.999964	B;B;B;B	0.24092	0.097;0.01;0.004;0.023	B;B;B;B	0.31337	0.128;0.017;0.017;0.049	T	0.68926	-0.5280	10	0.44086	T	0.13	-12.2145	8.9832	0.35977	0.1451:0.7799:0.0:0.0751	.	317;349;337;351	Q6KCM7;Q6KCM7-5;Q6KCM7-4;Q6KCM7-2	SCMC2_HUMAN;.;.;.	L	351;363;337;349;317;214	ENSP00000362159:S351L;ENSP00000362160:S363L;ENSP00000410053:S337L;ENSP00000362157:S349L;ENSP00000362155:S317L;ENSP00000401672:S214L	ENSP00000362155:S317L	S	+	2	0	SLC25A25	129908496	0.998000	0.40836	0.993000	0.49108	0.973000	0.67179	3.860000	0.55995	2.666000	0.90696	0.561000	0.74099	TCA	SLC25A25	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Graves_DC,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000148339		0.632	SLC25A25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A25	HGNC	protein_coding	OTTHUMT00000054407.1	51	0.00	0	C	NM_052901		130868675	130868675	+1	no_errors	ENST00000373069	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	0.995	T
SLC6A4	6532	genome.wustl.edu	37	17	28538331	28538331	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr17:28538331G>A	ENST00000401766.2	-	9	1828	c.1316C>T	c.(1315-1317)aCg>aTg	p.T439M	SLC6A4_ENST00000261707.3_Splice_Site_p.T439M			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	439					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)	p.T439M(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	TTTCCTCACCGTGCTGTCCAA	0.532																																						dbGAP											1	Substitution - Missense(1)	breast(1)											92.0	86.0	88.0					17																	28538331		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.1317+1C>T	17.37:g.28538331G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5EE02	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.T439M	ENST00000401766.2	37	c.1316	CCDS11256.1	17	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934013	0.73442	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.73789	-0.78;-0.78	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.79423	0.4443	N	0.25789	0.76	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76844	-0.2809	10	0.30854	T	0.27	.	18.7043	0.91631	0.0:0.0:1.0:0.0	.	439	P31645	SC6A4_HUMAN	M	481;439;439	ENSP00000385822:T439M;ENSP00000261707:T439M	ENSP00000261707:T439M	T	-	2	0	SLC6A4	25562457	1.000000	0.71417	0.997000	0.53966	0.681000	0.39784	9.869000	0.99810	2.667000	0.90743	0.456000	0.33151	ACG	SLC6A4	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000108576		0.532	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	HGNC	protein_coding	OTTHUMT00000256115.3	165	0.00	0	G	NM_001045	Missense_Mutation	28538331	28538331	-1	no_errors	ENST00000261707	ensembl	human	known	69_37n	missense	135	23.30	41	SNP	1.000	A
SLC7A6OS	84138	genome.wustl.edu	37	16	68335255	68335255	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr16:68335255G>C	ENST00000263997.6	-	5	871	c.853C>G	c.(853-855)Cgg>Ggg	p.R285G	SLC7A6_ENST00000219343.6_3'UTR|SLC7A6_ENST00000566454.1_3'UTR	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand	285					hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R285G(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		CTCCACATCCGCTGTCTGCTG	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											195.0	151.0	166.0					16																	68335255		2198	4300	6498	-	-	-	SO:0001583	missense	0				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558	ENST00000263997.6:c.853C>G	16.37:g.68335255G>C	ENSP00000263997:p.Arg285Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCZ3|Q9H8R8	Missense_Mutation	SNP	NULL	p.R285G	ENST00000263997.6	37	c.853	CCDS10865.1	16	.	.	.	.	.	.	.	.	.	.	G	7.691	0.691049	0.15039	.	.	ENSG00000103061	ENST00000263997	T	0.20200	2.09	5.72	3.65	0.41850	.	0.965723	0.08625	N	0.917883	T	0.14056	0.0340	N	0.20986	0.625	0.09310	N	1	B	0.26483	0.15	B	0.29176	0.099	T	0.33266	-0.9875	10	0.21540	T	0.41	-20.058	5.7407	0.18092	0.0984:0.0:0.664:0.2376	.	285	Q96CW6	S7A6O_HUMAN	G	285	ENSP00000263997:R285G	ENSP00000263997:R285G	R	-	1	2	SLC7A6OS	66892756	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.455000	0.21843	1.430000	0.47334	0.655000	0.94253	CGG	SLC7A6OS	-	NULL	ENSG00000103061		0.527	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6OS	HGNC	protein_coding	OTTHUMT00000268894.3	180	0.00	0	G	NM_032178		68335255	68335255	-1	no_errors	ENST00000263997	ensembl	human	known	69_37n	missense	107	38.15	66	SNP	0.001	C
SLC9A2	6549	genome.wustl.edu	37	2	103310911	103310911	+	Silent	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr2:103310911C>G	ENST00000233969.2	+	6	1606	c.1464C>G	c.(1462-1464)gtC>gtG	p.V488V	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	488					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.V488V(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TTCTTGATGTCAAGAGGTCCA	0.299																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											92.0	100.0	97.0					2																	103310911		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.1464C>G	2.37:g.103310911C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMS2	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.V488	ENST00000233969.2	37	c.1464	CCDS2062.1	2																																																																																			SLC9A2	-	tigrfam_NaH_exchanger	ENSG00000115616		0.299	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	238	0.00	0	C			103310911	103310911	+1	no_errors	ENST00000233969	ensembl	human	known	69_37n	silent	174	14.29	29	SNP	0.195	G
SMYD3	64754	genome.wustl.edu	37	1	246490556	246490556	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:246490556G>A	ENST00000388985.4	-	5	477	c.478C>T	c.(478-480)Cag>Tag	p.Q160*	SMYD3_ENST00000403792.3_Nonsense_Mutation_p.Q160*|SMYD3_ENST00000541742.1_Nonsense_Mutation_p.Q101*|SMYD3_ENST00000490107.1_Nonsense_Mutation_p.Q101*			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	160	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)	p.Q160*(1)|p.Q101*(1)		breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GAGGCATCCTGTATTTCTTCT	0.373																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											161.0	152.0	155.0					1																	246490556		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.478C>T	1.37:g.246490556G>A	ENSP00000373637:p.Gln160*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Nonsense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.Q160*	ENST00000388985.4	37	c.478	CCDS53486.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534578	0.85812	.	.	ENSG00000185420	ENST00000541742;ENST00000490107;ENST00000388985;ENST00000453676;ENST00000403792	.	.	.	5.88	5.88	0.94601	.	0.000000	0.49916	D	0.000135	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-11.9072	19.2068	0.93734	0.0:0.0:1.0:0.0	.	.	.	.	X	101;101;160;101;160	.	ENSP00000373637:Q160X	Q	-	1	0	SMYD3	244557179	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.941000	0.56607	2.780000	0.95670	0.655000	0.94253	CAG	SMYD3	-	pfam_SET_dom,smart_SET_dom	ENSG00000185420		0.373	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD3	HGNC	protein_coding		122	0.00	0	G	NM_022743		246490556	246490556	-1	no_errors	ENST00000388985	ensembl	human	known	69_37n	nonsense	123	13.38	19	SNP	1.000	A
SNAP91	9892	genome.wustl.edu	37	6	84371241	84371241	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr6:84371241A>T	ENST00000439399.2	-	5	748	c.432T>A	c.(430-432)gaT>gaA	p.D144E	SNAP91_ENST00000521743.1_Missense_Mutation_p.D144E|SNAP91_ENST00000195649.6_Missense_Mutation_p.D144E|SNAP91_ENST00000520302.1_Missense_Mutation_p.D144E|SNAP91_ENST00000521485.1_Missense_Mutation_p.D144E|SNAP91_ENST00000428679.2_Missense_Mutation_p.D144E|SNAP91_ENST00000437520.1_Missense_Mutation_p.D144E|SNAP91_ENST00000369694.2_Missense_Mutation_p.D144E|SNAP91_ENST00000520213.1_Missense_Mutation_p.D144E	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	144	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)	p.D144E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		CCCTGGCAAAATCAAAGGCCA	0.338																																						dbGAP											2	Substitution - Missense(2)	breast(2)											56.0	53.0	54.0					6																	84371241		1805	4068	5873	-	-	-	SO:0001583	missense	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.432T>A	6.37:g.84371241A>T	ENSP00000400459:p.Asp144Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.D144E	ENST00000439399.2	37	c.432	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	A	21.9	4.218698	0.79464	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000521931;ENST00000519779;ENST00000518309;ENST00000369690	T;T;T;T;T;T;T;T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42;1.42	5.13	1.99	0.26369	ENTH/VHS (1);ANTH (1);Epsin-like, N-terminal (2);	0.091258	0.85682	D	0.000000	T	0.46073	0.1374	M	0.90705	3.14	0.58432	D	0.999993	D;D;D;D	0.69078	0.985;0.988;0.997;0.988	D;D;D;D	0.76575	0.979;0.988;0.926;0.988	T	0.50980	-0.8763	10	0.87932	D	0	-12.5149	6.8224	0.23864	0.5216:0.0:0.4784:0.0	.	144;144;144;144	O60641-3;E5RI02;O60641;E1P549	.;.;AP180_HUMAN;.	E	144	ENSP00000429776:D144E;ENSP00000358708:D144E;ENSP00000400459:D144E;ENSP00000195649:D144E;ENSP00000412492:D144E;ENSP00000413277:D144E;ENSP00000428511:D144E;ENSP00000428215:D144E;ENSP00000428026:D144E;ENSP00000430071:D144E;ENSP00000429429:D144E;ENSP00000430441:D144E;ENSP00000358704:D144E	ENSP00000195649:D144E	D	-	3	2	SNAP91	84427960	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.532000	0.36029	0.697000	0.31718	0.460000	0.39030	GAT	SNAP91	-	pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	ENSG00000065609		0.338	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1	58	0.00	0	A			84371241	84371241	-1	no_errors	ENST00000369694	ensembl	human	known	69_37n	missense	21	36.36	12	SNP	1.000	T
SPEN	23013	genome.wustl.edu	37	1	16255129	16255130	+	Frame_Shift_Ins	INS	-	-	C	rs373742929		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr1:16255129_16255130insC	ENST00000375759.3	+	11	2598_2599	c.2394_2395insC	c.(2395-2397)ccgfs	p.P799fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	799	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAACTTTTGATCCGGAGAGAGT	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2396dupC	1.37:g.16255131_16255131dupC	ENSP00000364912:p.Pro799fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Ins	INS	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E799fs	ENST00000375759.3	37	c.2394_2395	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.441	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	157	0.00	0	-	NM_015001		16255129	16255130	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_ins	60	38.14	37	INS	0.184:0.049	C
SPINK14	408187	genome.wustl.edu	37	5	147553826	147553826	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr5:147553826G>C	ENST00000356972.1	+	3	141	c.141G>C	c.(139-141)ttG>ttC	p.L47F	SPINK14_ENST00000562793.1_Intron	NM_001001325.1	NP_001001325.1	Q6IE38	ISK14_HUMAN	serine peptidase inhibitor, Kazal type 14 (putative)	47	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L47F(1)		breast(1)|large_intestine(1)|lung(1)	3						AAGTAAACTTGAGCTGGTACA	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											102.0	103.0	103.0					5																	147553826		1494	3118	4612	-	-	-	SO:0001583	missense	0				CCDS4288.1	5q32	2011-08-31			ENSG00000196800	ENSG00000196800		"""Serine peptidase inhibitors, Kazal type"""	33825	protein-coding gene	gene with protein product							Standard	NM_001001325		Approved	SPINK5L2	uc031sls.1	Q6IE38	OTTHUMG00000129732	ENST00000356972.1:c.141G>C	5.37:g.147553826G>C	ENSP00000349459:p.Leu47Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,smart_Prot_inh_Kazal	p.L47F	ENST00000356972.1	37	c.141	CCDS4288.1	5	.	.	.	.	.	.	.	.	.	.	G	9.967	1.224445	0.22457	.	.	ENSG00000196800	ENST00000356972	T	0.65549	-0.16	3.8	2.02	0.26589	Proteinase inhibitor I1, Kazal (1);	0.000000	0.32548	N	0.005953	T	0.71039	0.3293	.	.	.	0.28026	N	0.934336	D	0.89917	1.0	D	0.80764	0.994	T	0.61053	-0.7140	9	0.48119	T	0.1	-14.741	6.1384	0.20247	0.2293:0.0:0.7707:0.0	.	47	Q6IE38	ISK14_HUMAN	F	47	ENSP00000349459:L47F	ENSP00000349459:L47F	L	+	3	2	SPINK14	147534019	0.999000	0.42202	0.998000	0.56505	0.065000	0.16274	0.416000	0.21198	0.590000	0.29694	-0.136000	0.14681	TTG	SPINK14	-	smart_Prot_inh_Kazal	ENSG00000196800		0.408	SPINK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINK14	HGNC	protein_coding	OTTHUMT00000251943.2	544	0.00	0	G	NM_001001325		147553826	147553826	+1	no_errors	ENST00000356972	ensembl	human	known	69_37n	missense	341	18.03	75	SNP	1.000	C
SPINT3	10816	genome.wustl.edu	37	20	44141392	44141392	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr20:44141392C>G	ENST00000217428.6	-	2	184	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q		NM_006652.1	NP_006643.1	P49223	SPIT3_HUMAN	serine peptidase inhibitor, Kunitz type, 3	57	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E57Q(2)		breast(1)	1						TCACCAGTTTCAAAGTTGAAA	0.433																																						dbGAP											2	Substitution - Missense(2)	breast(2)											122.0	102.0	108.0					20																	44141392		692	1591	2283	-	-	-	SO:0001583	missense	0			X77166	CCDS46608.1	20q12-q13.2	2012-08-20	2005-08-17		ENSG00000101446	ENSG00000101446			11248	protein-coding gene	gene with protein product		613941	"""serine protease inhibitor, Kunitz type, 3"""			21988899	Standard	NM_006652		Approved	HKIB9	uc010ghg.1	P49223	OTTHUMG00000032585	ENST00000217428.6:c.169G>C	20.37:g.44141392C>G	ENSP00000217428:p.Glu57Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCQ6|Q6UDR8|Q96KK2	Missense_Mutation	SNP	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.E57Q	ENST00000217428.6	37	c.169	CCDS46608.1	20	.	.	.	.	.	.	.	.	.	.	C	2.387	-0.340748	0.05243	.	.	ENSG00000101446	ENST00000217428	T	0.58358	0.34	3.45	-0.422	0.12329	Proteinase inhibitor I2, Kunitz metazoa (5);	.	.	.	.	T	0.29783	0.0744	.	.	.	0.09310	N	1	B	0.22983	0.078	B	0.34346	0.18	T	0.34403	-0.9830	8	0.08837	T	0.75	.	3.1418	0.06458	0.1979:0.3717:0.0:0.4304	.	57	P49223	SPIT3_HUMAN	Q	57	ENSP00000217428:E57Q	ENSP00000217428:E57Q	E	-	1	0	SPINT3	43574806	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.406000	0.07187	-0.206000	0.10203	-0.373000	0.07131	GAA	SPINT3	-	pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	ENSG00000101446		0.433	SPINT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPINT3	HGNC	protein_coding	OTTHUMT00000079464.5	209	0.00	0	C	NM_006652		44141392	44141392	-1	no_errors	ENST00000217428	ensembl	human	known	69_37n	missense	214	12.65	31	SNP	0.000	G
TRIM66	9866	genome.wustl.edu	37	11	8642703	8642703	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr11:8642703C>A	ENST00000299550.6	-	15	3087	c.2893G>T	c.(2893-2895)Gcc>Tcc	p.A965S	TRIM66_ENST00000402157.2_Missense_Mutation_p.A994S	NM_014818.1	NP_055633.1	O15016	TRI66_HUMAN	tripartite motif containing 66	965						aggresome (GO:0016235)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.A963S(1)		autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						TCTATTGGGGCTGGGGGGCCC	0.572																																						dbGAP											1	Substitution - Missense(1)	breast(1)											51.0	53.0	52.0					11																	8642703		692	1591	2283	-	-	-	SO:0001583	missense	0			AB002296		11p15.4	2013-01-28	2011-01-25		ENSG00000166436	ENSG00000166436		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"""	29005	protein-coding gene	gene with protein product		612000	"""chromosome 11 open reading frame 29"", ""tripartite motif-containing 66"""	C11orf29		9205841	Standard	NM_014818		Approved	KIAA0298, TIF1D	uc010rbo.2	O15016	OTTHUMG00000150481	ENST00000299550.6:c.2893G>T	11.37:g.8642703C>A	ENSP00000299550:p.Ala965Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQQ4	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_B-box,smart_Znf_PHD,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.A965S	ENST00000299550.6	37	c.2893		11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.620|4.620	0.115167|0.115167	0.08831|0.08831	.|.	.|.	ENSG00000166436|ENSG00000166436	ENST00000299550;ENST00000402157|ENST00000530502	T;T|.	0.40756|.	1.02;1.02|.	5.02|5.02	5.02|5.02	0.67125|0.67125	Zinc finger, FYVE/PHD-type (1);|.	0.910951|.	0.09230|.	N|.	0.830621|.	T|T	0.27313|0.27313	0.0670|0.0670	N|N	0.21142|0.21142	0.635|0.635	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.12156|.	0.007|.	T|T	0.14727|0.14727	-1.0462|-1.0462	10|5	0.07482|.	T|.	0.82|.	0.5161|0.5161	8.5113|8.5113	0.33220|0.33220	0.0:0.7631:0.1555:0.0814|0.0:0.7631:0.1555:0.0814	.|.	965|.	O15016|.	TRI66_HUMAN|.	S|I	965;994|96	ENSP00000299550:A965S;ENSP00000384876:A994S|.	ENSP00000299550:A965S|.	A|S	-|-	1|2	0|0	TRIM66|TRIM66	8599279|8599279	0.061000|0.061000	0.20836|0.20836	0.017000|0.017000	0.16124|0.16124	0.471000|0.471000	0.32888|0.32888	1.399000|1.399000	0.34566|0.34566	2.345000|2.345000	0.79718|0.79718	0.393000|0.393000	0.25936|0.25936	GCC|AGC	TRIM66	-	superfamily_Znf_FYVE_PHD	ENSG00000166436		0.572	TRIM66-201	KNOWN	basic|appris_candidate	protein_coding	TRIM66	HGNC	protein_coding		271	0.00	0	C	XM_084529		8642703	8642703	-1	no_errors	ENST00000299550	ensembl	human	known	69_37n	missense	81	19.00	19	SNP	0.005	A
TRIM49	57093	genome.wustl.edu	37	11	89537373	89537373	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr11:89537373C>G	ENST00000329758.1	-	3	593	c.265G>C	c.(265-267)Gag>Cag	p.E89Q	TRIM49_ENST00000532501.2_Missense_Mutation_p.E89Q	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	89						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E89Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATTTGCTCCTCAGAGCTCAGG	0.483																																						dbGAP											1	Substitution - Missense(1)	breast(1)											5.0	6.0	6.0					11																	89537373		1931	3855	5786	-	-	-	SO:0001583	missense	0			AB037682	CCDS8287.1	11p11.12-q12	2012-05-21	2011-01-25	2004-11-17	ENSG00000168930	ENSG00000168930		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13431	protein-coding gene	gene with protein product		606124	"""ring finger protein 18"", ""tripartite motif-containing 49"""	RNF18		11018261	Standard	NM_020358		Approved	TRIM49A	uc001pdb.3	P0CI25		ENST00000329758.1:c.265G>C	11.37:g.89537373C>G	ENSP00000327604:p.Glu89Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E89Q	ENST00000329758.1	37	c.265	CCDS8287.1	11	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861129	0.32884	.	.	ENSG00000168930	ENST00000329758;ENST00000532501	T	0.43294	0.95	0.821	0.821	0.18799	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, B-box (3);	.	.	.	.	T	0.46502	0.1396	L	0.58101	1.795	0.09310	N	0.999998	P	0.49253	0.921	P	0.54100	0.742	T	0.28170	-1.0052	8	.	.	.	.	5.0027	0.14273	0.0:1.0:0.0:0.0	.	89	P0CI25	TRI49_HUMAN	Q	89	ENSP00000327604:E89Q	.	E	-	1	0	TRIM49	89177021	0.024000	0.19004	0.041000	0.18516	0.028000	0.11728	2.016000	0.40971	0.754000	0.32968	0.194000	0.17425	GAG	TRIM49	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box	ENSG00000168930		0.483	TRIM49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM49	HGNC	protein_coding	OTTHUMT00000395435.1	67	0.00	0	C	NM_020358		89537373	89537373	-1	no_errors	ENST00000329758	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	0.596	G
TSHZ1	10194	genome.wustl.edu	37	18	72998075	72998075	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr18:72998075C>T	ENST00000580243.1	+	2	1061	c.713C>T	c.(712-714)tCc>tTc	p.S238F	TSHZ1_ENST00000322038.5_Missense_Mutation_p.S193F			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	238					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S193F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		CTCTACGGCTCCGTCTTCACG	0.612																																						dbGAP											1	Substitution - Missense(1)	breast(1)											55.0	46.0	49.0					18																	72998075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.713C>T	18.37:g.72998075C>T	ENSP00000464391:p.Ser238Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.S238F	ENST00000580243.1	37	c.713		18	.	.	.	.	.	.	.	.	.	.	C	9.443	1.088637	0.20390	.	.	ENSG00000179981	ENST00000322038	T	0.13901	2.55	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.56769	1.78	0.23926	N	0.996441	D	0.61697	0.99	D	0.68621	0.959	T	0.61787	-0.6991	10	0.87932	D	0	-26.3822	19.2229	0.93805	0.0:1.0:0.0:0.0	.	238	Q6ZSZ6	TSH1_HUMAN	F	193	ENSP00000323584:S193F	ENSP00000323584:S193F	S	+	2	0	TSHZ1	71127063	1.000000	0.71417	0.022000	0.16811	0.234000	0.25298	7.435000	0.80391	-3.060000	0.00257	-1.202000	0.01658	TCC	TSHZ1	-	NULL	ENSG00000179981		0.612	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	TSHZ1	HGNC	protein_coding	OTTHUMT00000444913.1	99	0.00	0	C	NM_005786		72998075	72998075	+1	no_errors	ENST00000580243	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	0.003	T
UBR5	51366	genome.wustl.edu	37	8	103287948	103287948	+	Silent	SNP	T	T	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr8:103287948T>A	ENST00000520539.1	-	46	7224	c.6618A>T	c.(6616-6618)gcA>gcT	p.A2206A	UBR5_ENST00000518205.1_5'Flank|UBR5_ENST00000220959.4_Silent_p.A2206A|UBR5_ENST00000521922.1_Silent_p.A2200A	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2206					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.A2206A(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATCCAGGTTCTGCTCCAACAT	0.393																																					Ovarian(131;96 1741 5634 7352 27489)	dbGAP											1	Substitution - coding silent(1)	breast(1)											97.0	84.0	88.0					8																	103287948		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6618A>T	8.37:g.103287948T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.A2206	ENST00000520539.1	37	c.6618	CCDS34933.1	8																																																																																			UBR5	-	NULL	ENSG00000104517		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	234	0.00	0	T	NM_015902		103287948	103287948	-1	no_errors	ENST00000520539	ensembl	human	known	69_37n	silent	227	14.02	37	SNP	1.000	A
UNC5B	219699	genome.wustl.edu	37	10	73048335	73048335	+	Silent	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr10:73048335G>A	ENST00000335350.6	+	7	1328	c.912G>A	c.(910-912)gcG>gcA	p.A304A	UNC5B_ENST00000373192.4_Silent_p.A304A	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	304	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.A304A(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCGATGGGGCGTGGACGGAGT	0.592																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											121.0	110.0	114.0					10																	73048335		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.912G>A	10.37:g.73048335G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Silent	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Death,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.A304	ENST00000335350.6	37	c.912	CCDS7309.1	10																																																																																			UNC5B	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000107731		0.592	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1	31	0.00	0	G	NM_170744		73048335	73048335	+1	no_errors	ENST00000335350	ensembl	human	known	69_37n	silent	16	23.81	5	SNP	0.281	A
WDR83	84292	genome.wustl.edu	37	19	12783926	12783926	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr19:12783926G>T	ENST00000418543.3	+	9	1028	c.679G>T	c.(679-681)Ggc>Tgc	p.G227C	WDR83OS_ENST00000600694.1_5'Flank|WDR83_ENST00000242796.4_Missense_Mutation_p.G227C|WDR83OS_ENST00000596731.1_5'Flank	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	227					mRNA splicing, via spliceosome (GO:0000398)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)		p.G227C(1)		breast(2)|large_intestine(1)|lung(1)	4						GGAGCTGCTGGGCGAGTGAGT	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	77.0	74.0					19																	12783926		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074525	CCDS12275.1	19p13.13	2013-01-09			ENSG00000123154	ENSG00000123154		"""WD repeat domain containing"""	32672	protein-coding gene	gene with protein product	"""MAPK organizer 1"""					15118098, 16407229	Standard	NM_032332		Approved	MORG1	uc010dyw.3	Q9BRX9	OTTHUMG00000169356	ENST00000418543.3:c.679G>T	19.37:g.12783926G>T	ENSP00000402653:p.Gly227Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAF1|Q53FT6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G227C	ENST00000418543.3	37	c.679	CCDS12275.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.432617|4.432617	0.83776|0.83776	.|.	.|.	ENSG00000123154|ENSG00000123154	ENST00000418543;ENST00000242796|ENST00000547797	T;T|.	0.60797|.	0.16;0.16|.	5.43|5.43	5.43|5.43	0.79202|0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67411|0.67411	0.2890|0.2890	L|L	0.43598|0.43598	1.365|1.365	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.63292|0.63292	-0.6670|-0.6670	10|5	0.87932|.	D|.	0|.	.|.	18.0113|18.0113	0.89224|0.89224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	227|.	Q9BRX9|.	WDR83_HUMAN|.	C|C	227|158	ENSP00000402653:G227C;ENSP00000242796:G227C|.	ENSP00000242796:G227C|.	G|W	+|+	1|3	0|0	WDR83|WDR83	12644926|12644926	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.758000|0.758000	0.43043|0.43043	9.078000|9.078000	0.94023|0.94023	2.549000|2.549000	0.85964|0.85964	0.561000|0.561000	0.74099|0.74099	GGC|TGG	WDR83	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000123154		0.642	WDR83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR83	HGNC	protein_coding	OTTHUMT00000403648.1	230	0.00	0	G	NM_032332		12783926	12783926	+1	no_errors	ENST00000242796	ensembl	human	known	69_37n	missense	101	12.17	14	SNP	1.000	T
XIRP2	129446	genome.wustl.edu	37	2	168074744	168074744	+	Silent	SNP	C	C	T	rs575905650		TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr2:168074744C>T	ENST00000409728.1	+	6	980	c.891C>T	c.(889-891)gaC>gaT	p.D297D	XIRP2_ENST00000295237.9_Silent_p.D264D|XIRP2_ENST00000409273.1_Silent_p.D42D|XIRP2_ENST00000409605.1_Silent_p.D42D|XIRP2_ENST00000420519.1_Silent_p.D297D|XIRP2_ENST00000409043.1_Silent_p.D264D|XIRP2_ENST00000409195.1_Silent_p.D264D|XIRP2_ENST00000409756.2_Silent_p.D264D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	89					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.D264D(1)|p.D297D(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AATTTGAGGACGAAATTACTT	0.403																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											112.0	112.0	112.0					2																	168074744		1911	4129	6040	-	-	-	SO:0001819	synonymous_variant	0			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.891C>T	2.37:g.168074744C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.D264	ENST00000409728.1	37	c.792	CCDS56143.1	2																																																																																			XIRP2	-	NULL	ENSG00000163092		0.403	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333552.1	225	0.00	0	C	NM_152381		168074744	168074744	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	silent	176	12.87	26	SNP	0.225	T
ZBTB16	7704	genome.wustl.edu	37	11	113935031	113935031	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr11:113935031T>G	ENST00000335953.4	+	2	1389	c.1009T>G	c.(1009-1011)Ttg>Gtg	p.L337V	ZBTB16_ENST00000392996.2_Missense_Mutation_p.L337V	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	337					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L337V(1)		central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CTACTCCGTGTTGCCCAACCA	0.652																																						dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	63.0	64.0					11																	113935031		2201	4296	6497	-	-	-	SO:0001583	missense	0			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.1009T>G	11.37:g.113935031T>G	ENSP00000338157:p.Leu337Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAL4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L337V	ENST00000335953.4	37	c.1009	CCDS8367.1	11	.	.	.	.	.	.	.	.	.	.	T	11.98	1.801912	0.31869	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.09163	3.01;3.01	4.79	-2.21	0.06973	.	0.224065	0.36628	N	0.002481	T	0.04770	0.0129	N	0.19112	0.55	0.34944	D	0.750632	B;B	0.32620	0.378;0.01	B;B	0.24006	0.05;0.021	T	0.26883	-1.0090	10	0.87932	D	0	-2.5713	5.859	0.18736	0.17:0.5475:0.0:0.2825	.	337;342	Q05516;Q59H43	ZBT16_HUMAN;.	V	337	ENSP00000338157:L337V;ENSP00000376721:L337V	ENSP00000338157:L337V	L	+	1	2	ZBTB16	113440241	1.000000	0.71417	0.968000	0.41197	0.976000	0.68499	0.825000	0.27393	-0.269000	0.09298	0.460000	0.39030	TTG	ZBTB16	-	NULL	ENSG00000109906		0.652	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB16	HGNC	protein_coding	OTTHUMT00000398940.1	60	0.00	0	T	NM_006006		113935031	113935031	+1	no_errors	ENST00000335953	ensembl	human	known	69_37n	missense	16	46.67	14	SNP	0.988	G
ZSCAN31	64288	genome.wustl.edu	37	6	28297245	28297245	+	Silent	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr6:28297245G>A	ENST00000414429.1	-	6	1119	c.216C>T	c.(214-216)atC>atT	p.I72I	ZSCAN31_ENST00000439158.1_Silent_p.I72I|ZSCAN31_ENST00000344279.6_Silent_p.I72I|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000396838.2_Silent_p.I72I			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	72	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I72I(1)									CTTTGGTGTGGATTTCTGGCC	0.552																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											129.0	140.0	136.0					6																	28297245		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.216C>T	6.37:g.28297245G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P178|Q8WWS5	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.I72	ENST00000414429.1	37	c.216	CCDS4649.1	6																																																																																			ZNF323	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN	ENSG00000235109		0.552	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF323	HGNC	protein_coding	OTTHUMT00000346804.1	135	0.00	0	G	NM_030899		28297245	28297245	-1	no_errors	ENST00000344279	ensembl	human	known	69_37n	silent	60	15.49	11	SNP	0.001	A
ZNF549	256051	genome.wustl.edu	37	19	58049495	58049495	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr19:58049495G>A	ENST00000376233.3	+	4	1304	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N	ZNF549_ENST00000594943.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.D362N	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	375					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D375N(1)|p.D362N(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTCCTATGACCGCATTCG	0.448																																						dbGAP											2	Substitution - Missense(2)	breast(2)											67.0	64.0	65.0					19																	58049495		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1123G>A	19.37:g.58049495G>A	ENSP00000365407:p.Asp375Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D375N	ENST00000376233.3	37	c.1123	CCDS56106.1	19	.	.	.	.	.	.	.	.	.	.	G	1.439	-0.568025	0.03910	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.01005	5.45;5.45	2.64	-1.72	0.08107	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00468	0.0015	N	0.03324	-0.35	0.09310	N	1	B;B	0.12013	0.001;0.005	B;B	0.21917	0.0;0.037	T	0.44513	-0.9323	9	0.10902	T	0.67	.	3.885	0.09094	0.4023:0.0:0.4351:0.1626	.	375;362	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	N	362;375	ENSP00000240719:D362N;ENSP00000365407:D375N	ENSP00000240719:D362N	D	+	1	0	ZNF549	62741307	0.000000	0.05858	0.000000	0.03702	0.502000	0.33828	-4.471000	0.00229	-0.188000	0.10499	0.484000	0.47621	GAC	ZNF549	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000121406		0.448	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF549	HGNC	protein_coding	OTTHUMT00000466780.1	184	0.00	0	G	NM_153263		58049495	58049495	+1	no_errors	ENST00000376233	ensembl	human	known	69_37n	missense	102	25.00	34	SNP	0.000	A
ZNF770	54989	genome.wustl.edu	37	15	35273900	35273900	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr15:35273900C>T	ENST00000356321.4	-	3	2080	c.1736G>A	c.(1735-1737)gGa>gAa	p.G579E		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	579					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.G579E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TGCCTTAACTCCTGACATTTG	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											136.0	140.0	138.0					15																	35273900		2201	4298	6499	-	-	-	SO:0001583	missense	0			BC071603	CCDS10042.1	15q14	2013-01-08			ENSG00000198146	ENSG00000198146		"""Zinc fingers, C2H2-type"""	26061	protein-coding gene	gene with protein product							Standard	NM_014106		Approved	FLJ20582, PRO1914	uc001ziw.3	Q6IQ21	OTTHUMG00000129689	ENST00000356321.4:c.1736G>A	15.37:g.35273900C>T	ENSP00000348673:p.Gly579Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMZ6|Q9NWV2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G579E	ENST00000356321.4	37	c.1736	CCDS10042.1	15	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.295809	0.00245	.	.	ENSG00000198146	ENST00000356321	T	0.08102	3.13	4.88	3.76	0.43208	.	0.287055	0.28533	N	0.015012	T	0.02888	0.0086	N	0.01352	-0.895	0.26234	N	0.97898	B	0.02656	0.0	B	0.04013	0.001	T	0.37314	-0.9711	10	0.41790	T	0.15	-4.2653	8.2171	0.31519	0.0:0.1671:0.0:0.8329	.	579	Q6IQ21	ZN770_HUMAN	E	579	ENSP00000348673:G579E	ENSP00000348673:G579E	G	-	2	0	ZNF770	33061192	1.000000	0.71417	0.809000	0.32408	0.474000	0.32979	0.835000	0.27531	0.902000	0.36520	-0.373000	0.07131	GGA	ZNF770	-	NULL	ENSG00000198146		0.413	ZNF770-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF770	HGNC	protein_coding	OTTHUMT00000251896.2	73	0.00	0	C	NM_014106		35273900	35273900	-1	no_errors	ENST00000356321	ensembl	human	known	69_37n	missense	30	32.61	15	SNP	0.988	T
ZSCAN2	54993	genome.wustl.edu	37	15	85165048	85165048	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09I-01A-22W-A050-09	TCGA-A8-A09I-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	96d5070d-1fa9-4fa5-b2c9-472240dfd3b9	ac8bb292-dad8-4f5b-b9d1-8c7aeb24bbac	g.chr15:85165048G>A	ENST00000448803.2	+	3	1914	c.1622G>A	c.(1621-1623)cGg>cAg	p.R541Q	ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.R541Q|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.R540Q|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.R391Q|ZSCAN2_ENST00000485222.2_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	541					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R541Q(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AGCTTCAGCCGGGGCTCCATT	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											97.0	102.0	100.0					15																	85165048		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1622G>A	15.37:g.85165048G>A	ENSP00000410198:p.Arg541Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R541Q	ENST00000448803.2	37	c.1622	CCDS10329.2	15	.	.	.	.	.	.	.	.	.	.	G	9.383	1.073453	0.20147	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.04	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.124551	0.36665	N	0.002467	T	0.11750	0.0286	N	0.05031	-0.125	0.80722	D	1	P;B	0.44260	0.83;0.138	B;B	0.24701	0.055;0.006	T	0.10543	-1.0625	9	.	.	.	-27.5178	7.6963	0.28596	0.1922:0.0:0.8078:0.0	.	541;541	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	Q	541;541;391;540;522	ENSP00000410198:R541Q;ENSP00000445451:R541Q;ENSP00000351257:R391Q;ENSP00000325123:R540Q	.	R	+	2	0	ZSCAN2	82966052	0.000000	0.05858	0.998000	0.56505	0.999000	0.98932	-0.030000	0.12308	1.112000	0.41740	0.655000	0.94253	CGG	ZSCAN2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000176371		0.587	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN2	HGNC	protein_coding	OTTHUMT00000396956.1	144	0.69	1	G	NM_017894		85165048	85165048	+1	no_errors	ENST00000448803	ensembl	human	known	69_37n	missense	77	44.68	63	SNP	0.597	A
