#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ENSG_ID	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
TRPM6	140803	genome.wustl.edu	37	9	77377882	77377882	+	Silent	SNP	C	C	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr9:77377882C>T	ENST00000360774.1	-	26	3942	c.3705G>A	c.(3703-3705)gaG>gaA	p.E1235E	TRPM6_ENST00000361255.3_Silent_p.E1230E|TRPM6_ENST00000449912.2_Silent_p.E1230E|TRPM6_ENST00000451710.3_Silent_p.E1235E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.E1235E|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1235					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CCAGGAGAGCCTCATCCTCTT	0.517																																																	0								ENSG00000119121						104.0	103.0	103.0					9																	77377882		2203	4300	6503	TRPM6	SO:0001819	synonymous_variant	0			-	HGNC	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3705G>A	9.37:g.77377882C>T		Somatic	0	44	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.E1235	ENST00000360774.1	37	c.3705	CCDS6647.1	9																																																																																			-	NULL		0.517	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	protein_coding	OTTHUMT00000052693.1	C	NM_017662	-		77377882	-1	no_errors	ENST00000451710	ensembl	human	known	74_37	silent	SNP	1.000	T
PANK1	53354	genome.wustl.edu	37	10	91359232	91359232	+	Nonsense_Mutation	SNP	C	C	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr10:91359232C>A	ENST00000307534.4	-	3	1242	c.1087G>T	c.(1087-1089)Gaa>Taa	p.E363*	PANK1_ENST00000371774.2_Nonsense_Mutation_p.E165*|PANK1_ENST00000322191.6_Nonsense_Mutation_p.E138*|PANK1_ENST00000342512.3_Nonsense_Mutation_p.E138*	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	363					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						CAGTCCAGTTCATCCAGTTTA	0.438																																																	0								ENSG00000152782						84.0	79.0	81.0					10																	91359232		2203	4300	6503	PANK1	SO:0001587	stop_gained	0			-	HGNC	AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1087G>T	10.37:g.91359232C>A	ENSP00000302108:p.Glu363*	Somatic	0	72	0.00		0.36651032841881637	4	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.43	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Type_II_PanK,tigrfam_Type_II_PanK	p.E363*	ENST00000307534.4	37	c.1087	CCDS31244.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.612879	0.97705	.	.	ENSG00000152782	ENST00000342512;ENST00000322191;ENST00000371774;ENST00000307534;ENST00000371775	.	.	.	5.91	5.91	0.95273	.	0.106321	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.3018	0.98617	0.0:1.0:0.0:0.0	.	.	.	.	X	138;138;165;363;226	.	ENSP00000302108:E363X	E	-	1	0	PANK1	91349212	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.799000	0.96334	0.650000	0.86243	GAA	-	pfam_Type_II_PanK,tigrfam_Type_II_PanK		0.438	PANK1-201	KNOWN	basic|CCDS	protein_coding	PANK1	protein_coding		C		-		91359232	-1	no_errors	ENST00000307534	ensembl	human	known	74_37	nonsense	SNP	1.000	A
FCRL4	83417	genome.wustl.edu	37	1	157550228	157550228	+	Intron	SNP	T	T	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:157550228T>C	ENST00000271532.1	-	8	1385				FCRL4_ENST00000448509.2_Intron	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AGAGAGGTAATCAAGACAGTC	0.403																																																	0								ENSG00000163518																																			FCRL4	SO:0001627	intron_variant	0			-	HGNC	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.1250-90A>G	1.37:g.157550228T>C		Somatic	0	35	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	Q96PJ3|Q96RE0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000271532.1	37	NULL	CCDS1166.1	1																																																																																			-	-		0.403	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	protein_coding	OTTHUMT00000086180.1	T	NM_031282	-		157550228	-1	no_errors	ENST00000479869	ensembl	human	known	74_37	rna	SNP	0.000	C
FOLH1	2346	genome.wustl.edu	37	11	49194970	49194970	+	Silent	SNP	A	A	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr11:49194970A>C	ENST00000256999.2	-	10	1424	c.1164T>G	c.(1162-1164)ccT>ccG	p.P388P	FOLH1_ENST00000343844.4_Silent_p.P80P|FOLH1_ENST00000356696.3_Silent_p.P388P|FOLH1_ENST00000533034.1_Silent_p.P373P|FOLH1_ENST00000340334.7_Silent_p.P373P|FOLH1_ENST00000525629.1_5'UTR	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	388	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	CTCCACTCTGAGGGTCAATAC	0.408																																																	0								ENSG00000086205						168.0	158.0	161.0					11																	49194970		2201	4298	6499	FOLH1	SO:0001819	synonymous_variant	0			-	HGNC	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1164T>G	11.37:g.49194970A>C		Somatic	0	110	0.00		0.36651032841881637	20	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	73	10.98	A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.P388	ENST00000256999.2	37	c.1164	CCDS7946.1	11																																																																																			-	pfam_Peptidase_M28		0.408	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	protein_coding	OTTHUMT00000390896.1	A	NM_004476	-		49194970	-1	no_errors	ENST00000256999	ensembl	human	known	74_37	silent	SNP	1.000	C
FAM65C	140876	genome.wustl.edu	37	20	49211978	49211978	+	Missense_Mutation	SNP	G	G	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr20:49211978G>T	ENST00000327979.2	-	16	2377	c.1966C>A	c.(1966-1968)Caa>Aaa	p.Q656K	FAM65C_ENST00000045083.2_Missense_Mutation_p.Q656K|FAM65C_ENST00000535356.1_Missense_Mutation_p.Q660K			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	656										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACGTGCTTTTGCTGTGCCACT	0.522																																																	0								ENSG00000042062						120.0	122.0	121.0					20																	49211978		2028	4183	6211	FAM65C	SO:0001583	missense	0			-	HGNC	AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.1966C>A	20.37:g.49211978G>T	ENSP00000332663:p.Gln656Lys	Somatic	0	57	0.00		0.36651032841881637	12	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5QPB6|Q9NQQ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom	p.Q660K	ENST00000327979.2	37	c.1978	CCDS13431.2	20	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150493	0.57151	.	.	ENSG00000042062	ENST00000327979;ENST00000045083;ENST00000535356	D;D;D	0.82526	-1.62;-1.62;-1.62	5.17	5.17	0.71159	.	0.000000	0.64402	U	0.000005	D	0.90776	0.7104	M	0.72894	2.215	0.54753	D	0.999983	D;D	0.89917	1.0;0.998	D;D	0.85130	0.995;0.997	D	0.91474	0.5199	10	0.72032	D	0.01	-10.3443	18.6183	0.91312	0.0:0.0:1.0:0.0	.	660;656	F5H0X2;Q96MK2	.;FA65C_HUMAN	K	656;656;660	ENSP00000332663:Q656K;ENSP00000045083:Q656K;ENSP00000439802:Q660K	ENSP00000045083:Q656K	Q	-	1	0	FAM65C	48645385	1.000000	0.71417	0.941000	0.38009	0.062000	0.15995	5.930000	0.70104	2.580000	0.87095	0.561000	0.74099	CAA	-	NULL		0.522	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM65C	protein_coding	OTTHUMT00000257962.1	G		-		49211978	-1	no_errors	ENST00000535356	ensembl	human	known	74_37	missense	SNP	1.000	T
LOC101927060	101927060	genome.wustl.edu	37	17	45177320	45177321	+	IGR	INS	-	-	CGGCCC	rs71354656|rs11283220|rs143602867	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr17:45177320_45177321insCGGCCC								RP11-156P1.3 (32417 upstream) : CDC27 (17747 downstream)																							gcccccggccgcggccccggcc	0.757														2232	0.445687	0.2821	0.5245	5008	,	,		8276	0.2927		0.6441	False		,,,				2504	0.5644																0								ENSG00000262879																																			RP11-156P1.3	SO:0001628	intergenic_variant	0				Clone_based_vega_gene																													17.37:g.45177321_45177326dupCGGCCC		Somatic	NA	NA	NA		0.36651032841881637	2	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL		37	NULL		17																																																																																			-	-	0	0.757					LOC101927060			-				45177321	-1	no_errors	ENST00000571665	ensembl	human	known	74_37	rna	INS	0.380:0.408	CGGCCC
HECTD4	283450	genome.wustl.edu	37	12	112638508	112638508	+	Missense_Mutation	SNP	G	G	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr12:112638508G>A	ENST00000430131.2	-	54	8380	c.7235C>T	c.(7234-7236)gCa>gTa	p.A2412V	HECTD4_ENST00000377560.5_Missense_Mutation_p.A2662V|HECTD4_ENST00000550722.1_Missense_Mutation_p.A2688V			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2412					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TCGGTAGCCTGCTGGGGGCCT	0.512																																																	0								ENSG00000173064						120.0	119.0	119.0					12																	112638508		2022	4186	6208	HECTD4	SO:0001583	missense	0			-	HGNC	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.7235C>T	12.37:g.112638508G>A	ENSP00000404379:p.Ala2412Val	Somatic	0	122	0.00		0.36651032841881637	2	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	82	13.68	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.A2662V	ENST00000430131.2	37	c.7985		12	.	.	.	.	.	.	.	.	.	.	G	37	6.174018	0.97348	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000548896	T;T;T	0.47177	0.85;0.85;0.85	5.86	5.86	0.93980	.	.	.	.	.	T	0.58221	0.2107	N	0.24115	0.695	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.60576	-0.7236	9	0.87932	D	0	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	2412	Q9Y4D8	K0614_HUMAN	V	2662;2412;2688;43	ENSP00000366783:A2662V;ENSP00000404379:A2412V;ENSP00000449784:A2688V	ENSP00000366783:A2662V	A	-	2	0	C12orf51	111122891	1.000000	0.71417	0.820000	0.32676	0.997000	0.91878	9.141000	0.94612	2.937000	0.99478	0.650000	0.86243	GCA	-	NULL		0.512	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	protein_coding		G	NM_173813	-		112638508	-1	no_errors	ENST00000377560	ensembl	human	known	74_37	missense	SNP	1.000	A
RTEL1	51750	genome.wustl.edu	37	20	62320973	62320973	+	Missense_Mutation	SNP	T	T	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr20:62320973T>G	ENST00000360203.5	+	23	2322	c.1997T>G	c.(1996-1998)aTg>aGg	p.M666R	RTEL1_ENST00000318100.4_Missense_Mutation_p.M666R|RTEL1_ENST00000508582.2_Missense_Mutation_p.M690R|RTEL1_ENST00000370018.3_Missense_Mutation_p.M666R|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.M666R|RTEL1_ENST00000370003.1_5'Flank					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CTGGATGAGATGAAGGGCCAG	0.657																																																	0								ENSG00000258366						31.0	36.0	34.0					20																	62320973		2197	4290	6487	RTEL1	SO:0001583	missense	0			-	HGNC	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.1997T>G	20.37:g.62320973T>G	ENSP00000353332:p.Met666Arg	Somatic	0	76	0.00		0.36651032841881637	28	6.67	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	79	13.19		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.M666R	ENST00000360203.5	37	c.1997		20	.	.	.	.	.	.	.	.	.	.	T	14.61	2.588130	0.46110	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203	D;D;D;D	0.91068	-2.78;-2.78;-2.78;-2.78	4.46	4.46	0.54185	Helicase, ATP-dependent, c2 type (1);	0.173963	0.64402	D	0.000009	D	0.87935	0.6303	N	0.20845	0.615	0.49582	D	0.999805	P;B;B	0.52170	0.951;0.205;0.01	P;B;B	0.53809	0.735;0.102;0.037	D	0.86803	0.1993	10	0.30854	T	0.27	-21.6642	13.8302	0.63375	0.0:0.0:0.0:1.0	.	690;666;666	Q9NZ71-7;Q9NZ71;Q9NZ71-6	.;RTEL1_HUMAN;.	R	666;666;690;666	ENSP00000359035:M666R;ENSP00000322287:M666R;ENSP00000424307:M690R;ENSP00000353332:M666R	ENSP00000353332:M666R	M	+	2	0	AL353715.1	61791417	1.000000	0.71417	0.999000	0.59377	0.803000	0.45373	5.625000	0.67770	2.001000	0.58596	0.460000	0.39030	ATG	-	superfamily_P-loop_NTPase,smart_ATP-dep_Helicase_C,tigrfam_DNA_helicase_DNA-repair_Rad3		0.657	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	protein_coding	OTTHUMT00000289781.1	T	NM_032957	-		62320973	+1	no_errors	ENST00000318100	ensembl	human	known	74_37	missense	SNP	1.000	G
COL18A1	80781	genome.wustl.edu	37	21	46923945	46923945	+	Missense_Mutation	SNP	C	C	T	rs565276532|rs371849586	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr21:46923945C>T	ENST00000359759.4	+	32	3970	c.3949C>T	c.(3949-3951)Ctt>Ttt	p.L1317F	COL18A1_ENST00000355480.5_Missense_Mutation_p.L1082F|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.L902F			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1317	Nonhelical region 8 (NC8).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GTTTGACTTTCTTCAGTTGGA	0.617																																																	0								ENSG00000182871						85.0	92.0	90.0					21																	46923945		1949	4143	6092	COL18A1	SO:0001583	missense	0			-	HGNC		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3949C>T	21.37:g.46923945C>T	ENSP00000352798:p.Leu1317Phe	Somatic	0	106	0.00		0.36651032841881637	189	21.58	52	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	48	12.73	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.L1317F	ENST00000359759.4	37	c.3949		21	.	.	.	.	.	.	.	.	.	.	C	5.759	0.324465	0.10900	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	D;D;D;D	0.93426	-2.79;-2.79;-2.67;-3.22	3.85	-0.633	0.11519	.	0.756424	0.12344	N	0.477162	D	0.83912	0.5357	N	0.22421	0.69	0.09310	N	1	B;B;B	0.13594	0.005;0.008;0.008	B;B;B	0.11329	0.003;0.006;0.006	T	0.70252	-0.4923	10	0.32370	T	0.25	.	2.7517	0.05282	0.2072:0.4247:0.0:0.3681	.	1317;1082;902	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	F	902;902;1082;1317;1317;249	ENSP00000383191:L902F;ENSP00000347665:L1082F;ENSP00000352798:L1317F;ENSP00000339118:L249F	ENSP00000339118:L249F	L	+	1	0	COL18A1	45748373	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-0.479000	0.06567	0.044000	0.15775	0.655000	0.94253	CTT	-	NULL		0.617	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	protein_coding	OTTHUMT00000206827.1	C		-		46923945	+1	no_errors	ENST00000359759	ensembl	human	known	74_37	missense	SNP	0.000	T
RP11-133K1.6	0	genome.wustl.edu	37	15	40605494	40605494	+	lincRNA	SNP	G	G	T	rs142444614	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr15:40605494G>T	ENST00000559030.1	+	0	679																											TGGGCATCACGGCAGTGCATC	0.418																																																	0								ENSG00000259198																																			RP11-133K1.6			0			-	Clone_based_vega_gene																													15.37:g.40605494G>T		Somatic	0	47	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000559030.1	37	NULL		15																																																																																			-	-		0.418	RP11-133K1.6-001	KNOWN	basic	lincRNA	ENSG00000259198	lincRNA	OTTHUMT00000418442.1	G		-		40605494	+1	no_errors	ENST00000559030	ensembl	human	known	74_37	rna	SNP	0.995	T
ARHGAP29	9411	genome.wustl.edu	37	1	94643143	94643144	+	Intron	INS	-	-	T	rs563927860	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:94643143_94643144insT	ENST00000260526.6	-	22	3088				ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29						positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CAGCAAACATATTTTTTTTTTA	0.376																																																	0								ENSG00000137962																																			ARHGAP29	SO:0001627	intron_variant	0				HGNC		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2905+23->A	1.37:g.94643153_94643153dupT		Somatic	0	29	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000260526.6	37	NULL	CCDS748.1	1																																																																																			-	-		0.376	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	protein_coding	OTTHUMT00000029376.2	-	NM_004815			94643144	-1	no_errors	ENST00000482481	ensembl	human	known	74_37	rna	INS	0.000:0.000	T
MT-ND2	4536	genome.wustl.edu	37	M	2138	2138	+	5'Flank	SNP	T	T	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrM:2138T>C	ENST00000361453.3	+	0	0				MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TAGGAAAAAACCTTGTAGAGA	0.388																																																	0								ENSG00000210082																																			MT-RNR2	SO:0001631	upstream_gene_variant	0			-	HGNC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.2138T>C	Exception_encountered	Somatic	0	72	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			-	-		0.388	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		T	YP_003024027	-		2138	+1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	SNP	NULL	C
DOK5	55816	genome.wustl.edu	37	20	53092427	53092427	+	5'UTR	DEL	C	C	-			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr20:53092427delC	ENST00000262593.5	+	0	292				DOK5_ENST00000395939.1_5'UTR|DOK5_ENST00000491469.1_3'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5						MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCTCCACCCTCCCCAGAGCCA	0.592																																																	0								ENSG00000101134						18.0	20.0	20.0					20																	53092427		692	1591	2283	DOK5	SO:0001623	5_prime_UTR_variant	0				HGNC	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.-59C>-	20.37:g.53092427delC		Somatic	0	41	0.00		0.36651032841881637	9	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000262593.5	37	NULL	CCDS13446.1	20																																																																																			-	-		0.592	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK5	protein_coding	OTTHUMT00000079777.2	C				53092427	+1	no_errors	ENST00000491469	ensembl	human	known	74_37	rna	DEL	0.527	-
DYSF	8291	genome.wustl.edu	37	2	71896858	71896858	+	Silent	SNP	C	C	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr2:71896858C>A	ENST00000258104.3	+	50	5926	c.5649C>A	c.(5647-5649)gtC>gtA	p.V1883V	DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Silent_p.V1922V|DYSF_ENST00000409582.3_Silent_p.V1921V|DYSF_ENST00000413539.2_Silent_p.V1914V|DYSF_ENST00000409366.1_Silent_p.V1905V|DYSF_ENST00000409744.1_Silent_p.V1891V|DYSF_ENST00000394120.2_Silent_p.V1884V|DYSF_ENST00000429174.2_Silent_p.V1904V|DYSF_ENST00000409651.1_Silent_p.V1915V|DYSF_ENST00000409762.1_Silent_p.V1900V|DYSF_ENST00000410041.1_Silent_p.V1901V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1883	C2 7. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTGAGCAAGTCTGTACCATTG	0.537																																																	0								ENSG00000135636						172.0	142.0	152.0					2																	71896858		2203	4300	6503	DYSF	SO:0001819	synonymous_variant	0			-	HGNC	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.5649C>A	2.37:g.71896858C>A		Somatic	0	91	0.00		0.36651032841881637	167	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom	p.V1914	ENST00000258104.3	37	c.5742	CCDS1918.1	2																																																																																			-	superfamily_C2_dom,smart_C2_dom		0.537	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	C	NM_003494	-		71896858	+1	no_errors	ENST00000413539	ensembl	human	known	74_37	silent	SNP	0.999	A
F9	2158	genome.wustl.edu	37	X	138612959	138612959	+	Silent	SNP	A	A	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:138612959A>G	ENST00000218099.2	+	1	43	c.36A>G	c.(34-36)ccA>ccG	p.P12P	F9_ENST00000479617.2_3'UTR|F9_ENST00000394090.2_Silent_p.P12P	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	12					blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	CAGAATCACCAGGCCTCATCA	0.408																																																	0								ENSG00000101981						287.0	231.0	250.0					X																	138612959		2203	4300	6503	F9	SO:0001819	synonymous_variant	0			-	HGNC	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.36A>G	X.37:g.138612959A>G		Somatic	0	28	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain	p.P12	ENST00000218099.2	37	c.36	CCDS14666.1	X																																																																																			-	pirsf_Pept_S1A_FX		0.408	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F9	protein_coding	OTTHUMT00000058557.1	A		-		138612959	+1	no_errors	ENST00000218099	ensembl	human	known	74_37	silent	SNP	0.001	G
FHOD3	80206	genome.wustl.edu	37	18	34229279	34229281	+	Intron	DEL	GGA	GGA	-			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr18:34229279_34229281delGGA	ENST00000359247.4	+	11	1196				FHOD3_ENST00000590592.1_Splice_Site_p.E406del|FHOD3_ENST00000257209.4_Intron|FHOD3_ENST00000445677.1_Intron|FHOD3_ENST00000591635.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				TTTGTCTCAGGGAGGAGGAGGAG	0.488																																																	0								ENSG00000134775																																			FHOD3	SO:0001627	intron_variant	0				HGNC	AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.1197-8757GGA>-	18.37:g.34229288_34229290delGGA		Somatic	0	25	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.E403in_frame_del	ENST00000359247.4	37	c.1197_1199		18																																																																																			-	superfamily_ARM-type_fold		0.488	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	protein_coding	OTTHUMT00000460884.1	GGA	XM_371114			34229281	+1	no_errors	ENST00000590592	ensembl	human	putative	74_37	in_frame_del	DEL	1.000:0.917:0.655	-
FGFR4	2264	genome.wustl.edu	37	5	176523681	176523681	+	Silent	SNP	C	C	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr5:176523681C>T	ENST00000292408.4	+	16	2337	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	FGFR4_ENST00000292410.3_Silent_p.L658L|FGFR4_ENST00000393637.1_Silent_p.L658L|FGFR4_ENST00000502906.1_Silent_p.L698L|FGFR4_ENST00000393648.2_Silent_p.L630L	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	698	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphate ion homeostasis (GO:0055062)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of proteolysis (GO:0045862)|protein autophosphorylation (GO:0046777)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cholesterol homeostasis (GO:2000188)|regulation of extracellular matrix disassembly (GO:0010715)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)|Ponatinib(DB08901)	GGTGGAGGAGCTGTTCTCGCT	0.652										TSP Lung(9;0.080)																																							0								ENSG00000160867						70.0	68.0	69.0					5																	176523681		2203	4300	6503	FGFR4	SO:0001819	synonymous_variant	0			-	HGNC	AF202063	CCDS4410.1, CCDS4411.1	5q35.2	2013-09-19			ENSG00000160867	ENSG00000160867		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3691	protein-coding gene	gene with protein product		134935					Standard	XM_005265837		Approved	JTK2, CD334	uc003mfm.3	P22455	OTTHUMG00000151523	ENST00000292408.4:c.2092C>T	5.37:g.176523681C>T		Somatic	0	104	0.00		0.36651032841881637	1	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	71	19.32	G3JVM2|G3JVM5|G3JVM7|G3JVM9|O43785|Q14309|Q71TW8|Q8TDA0|Q96KE5	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L698	ENST00000292408.4	37	c.2092	CCDS4410.1	5																																																																																			-	pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.652	FGFR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFR4	protein_coding	OTTHUMT00000253410.1	C		-		176523681	+1	no_errors	ENST00000292408	ensembl	human	known	74_37	silent	SNP	1.000	T
ACTL8	81569	genome.wustl.edu	37	1	18152586	18152586	+	Missense_Mutation	SNP	C	C	T	rs267598220		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:18152586C>T	ENST00000375406.1	+	3	889	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	225					epithelial cell differentiation (GO:0030855)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCTGGACTTTCGTGAGAGGCA	0.597											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000117148						48.0	52.0	50.0					1																	18152586		2203	4300	6503	ACTL8	SO:0001583	missense	0			-	HGNC	AK057339	CCDS183.1	1p36.2-p35	2009-03-25			ENSG00000117148	ENSG00000117148			24018	protein-coding gene	gene with protein product	"""cancer/testis antigen 57"""						Standard	NM_030812		Approved	CT57	uc001bat.3	Q9H568	OTTHUMG00000002512	ENST00000375406.1:c.673C>T	1.37:g.18152586C>T	ENSP00000364555:p.Arg225Cys	Somatic	0	77	0.00	723	0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	Q13104|Q96M75	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.R225C	ENST00000375406.1	37	c.673	CCDS183.1	1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.665005	0.29604	.	.	ENSG00000117148	ENST00000375406	T	0.08008	3.14	4.07	-4.68	0.03309	.	2.015510	0.02199	N	0.062080	T	0.05456	0.0144	N	0.22421	0.69	0.09310	N	1	B	0.18461	0.028	B	0.09377	0.004	T	0.36817	-0.9732	10	0.87932	D	0	0.0	2.1038	0.03686	0.1422:0.2066:0.1406:0.5106	.	225	Q9H568	ACTL8_HUMAN	C	225	ENSP00000364555:R225C	ENSP00000364555:R225C	R	+	1	0	ACTL8	18025173	0.096000	0.21769	0.000000	0.03702	0.076000	0.17211	0.882000	0.28186	-1.024000	0.03338	0.591000	0.81541	CGT	-	pfam_Actin-related,smart_Actin-related		0.597	ACTL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL8	protein_coding	OTTHUMT00000007143.1	C	NM_030812	-		18152586	+1	no_errors	ENST00000375406	ensembl	human	known	74_37	missense	SNP	0.000	T
BMS1	9790	genome.wustl.edu	37	10	43326420	43326422	+	In_Frame_Del	DEL	AGG	AGG	-	rs787800		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr10:43326420_43326422delAGG	ENST00000374518.5	+	23	3788_3790	c.3725_3727delAGG	c.(3724-3729)aaggag>aag	p.E1246del	RNU6-885P_ENST00000516607.1_RNA	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1246					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCCAAGCAGAAGGAGGAGGAGGA	0.522																																																	0								ENSG00000165733																																			BMS1	SO:0001651	inframe_deletion	0				HGNC	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.3725_3727delAGG	10.37:g.43326429_43326431delAGG	ENSP00000363642:p.Glu1246del	Somatic	0	41	0.00		0.36651032841881637	265	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q5QPT5|Q86XJ9	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN	p.E1246in_frame_del	ENST00000374518.5	37	c.3725_3727	CCDS7199.1	10																																																																																			-	NULL		0.522	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	protein_coding	OTTHUMT00000047690.2	AGG	NM_014753			43326422	+1	no_errors	ENST00000374518	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
OR52A1	23538	genome.wustl.edu	37	11	5172926	5172926	+	Missense_Mutation	SNP	A	A	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr11:5172926A>T	ENST00000380367.1	-	2	1091	c.674T>A	c.(673-675)tTt>tAt	p.F225Y	OR52A1_ENST00000328942.1_Missense_Mutation_p.F225Y			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	225					sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|transmembrane signaling receptor activity (GO:0004888)	p.F225C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACTGTGATAAATATCTGGAT	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000182070						169.0	157.0	161.0					11																	5172926		2201	4298	6499	OR52A1	SO:0001583	missense	0			-	HGNC	AF154673	CCDS31374.1	11p15.4	2012-08-09			ENSG00000182070	ENSG00000182070		"""GPCR / Class A : Olfactory receptors"""	8318	protein-coding gene	gene with protein product						10512676	Standard	NM_012375		Approved	HPFH1OR	uc010qyy.2	Q9UKL2	OTTHUMG00000066603	ENST00000380367.1:c.674T>A	11.37:g.5172926A>T	ENSP00000369725:p.Phe225Tyr	Somatic	0	72	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	56	9.68	Q6IF31	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F225Y	ENST00000380367.1	37	c.674	CCDS31374.1	11	.	.	.	.	.	.	.	.	.	.	A	18.72	3.684297	0.68157	.	.	ENSG00000182070	ENST00000380367;ENST00000328942	T;T	0.00227	8.5;8.5	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.127327	0.35903	N	0.002907	T	0.00695	0.0023	M	0.88241	2.94	0.23581	N	0.997367	D	0.89917	1.0	D	0.91635	0.999	T	0.35325	-0.9793	10	0.87932	D	0	.	14.3327	0.66569	1.0:0.0:0.0:0.0	.	225	Q9UKL2	O52A1_HUMAN	Y	225	ENSP00000369725:F225Y;ENSP00000333684:F225Y	ENSP00000333684:F225Y	F	-	2	0	OR52A1	5129502	0.977000	0.34250	0.772000	0.31596	0.700000	0.40528	5.254000	0.65457	2.254000	0.74563	0.529000	0.55759	TTT	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.428	OR52A1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR52A1	protein_coding	OTTHUMT00000142810.2	A	NM_012375	-		5172926	-1	no_errors	ENST00000328942	ensembl	human	known	74_37	missense	SNP	0.825	T
MARK3	4140	genome.wustl.edu	37	14	103969310	103969310	+	Missense_Mutation	SNP	A	A	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr14:103969310A>T	ENST00000429436.2	+	18	2518	c.2008A>T	c.(2008-2010)Atg>Ttg	p.M670L	MARK3_ENST00000561071.1_3'UTR|MARK3_ENST00000416682.2_Missense_Mutation_p.M669L|MARK3_ENST00000440884.3_Missense_Mutation_p.M576L|MARK3_ENST00000553942.1_Missense_Mutation_p.M661L|MARK3_ENST00000303622.9_Missense_Mutation_p.M646L|MARK3_ENST00000335102.5_Missense_Mutation_p.M693L|MARK3_ENST00000216288.7_Missense_Mutation_p.M630L	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3	670						plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			CACTAGTTCAATGGATCCCGG	0.502																																																	0								ENSG00000075413						74.0	76.0	75.0					14																	103969310		2047	4215	6262	MARK3	SO:0001583	missense	0			-	HGNC	M80359	CCDS41993.1, CCDS45165.1, CCDS45166.1, CCDS45167.1, CCDS55947.1	14q32.32	2014-04-07			ENSG00000075413	ENSG00000075413			6897	protein-coding gene	gene with protein product		602678				9533022	Standard	NM_002376		Approved	CTAK1, KP78, PAR-1A	uc001ymz.4	P27448	OTTHUMG00000171789	ENST00000429436.2:c.2008A>T	14.37:g.103969310A>T	ENSP00000411397:p.Met670Leu	Somatic	0	110	0.00		0.36651032841881637	464	15.45	85	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	90	12.50	O60219|Q86TT8|Q8TB41|Q8WX83|Q96RG1|Q9UMY9|Q9UN34	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M670L	ENST00000429436.2	37	c.2008	CCDS45165.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.18|12.18	1.859241|1.859241	0.32884|0.32884	.|.	.|.	ENSG00000075413|ENSG00000075413	ENST00000335102;ENST00000411530;ENST00000440884;ENST00000416682;ENST00000429436;ENST00000303622;ENST00000216288;ENST00000553942;ENST00000556744|ENST00000554627	T;T;T;T;T;T;T;T|.	0.50001|.	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76|.	6.08|6.08	4.91|4.91	0.64330|0.64330	Kinase-associated KA1 (2);|.	0.032827|.	0.85682|.	N|.	0.000000|.	T|T	0.59321|0.59321	0.2185|0.2185	L|L	0.45228|0.45228	1.405|1.405	0.58432|0.58432	D|D	0.999996|0.999996	B;B;B;B;B;B;B;B;B|.	0.20459|.	0.045;0.004;0.003;0.002;0.007;0.0;0.0;0.008;0.008|.	B;B;B;B;B;B;B;B;B|.	0.29353|.	0.101;0.007;0.017;0.003;0.017;0.008;0.001;0.036;0.026|.	T|T	0.55179|0.55179	-0.8181|-0.8181	10|5	0.22706|.	T|.	0.39|.	.|.	13.3725|13.3725	0.60721|0.60721	0.8685:0.1315:0.0:0.0|0.8685:0.1315:0.0:0.0	.|.	677;248;669;379;630;670;576;661;646|.	P27448-7;A2SY06;P27448-2;B4DKN1;P27448-6;P27448;Q86TT8;P27448-4;P27448-3|.	.;.;.;.;.;MARK3_HUMAN;.;.;.|.	L|H	693;362;576;669;670;646;630;661;248|421	ENSP00000335347:M693L;ENSP00000402104:M576L;ENSP00000408092:M669L;ENSP00000411397:M670L;ENSP00000303698:M646L;ENSP00000216288:M630L;ENSP00000450772:M661L;ENSP00000451623:M248L|.	ENSP00000216288:M661L|.	M|Q	+|+	1|3	0|2	MARK3|MARK3	103039063|103039063	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.654000|0.654000	0.38779|0.38779	7.401000|7.401000	0.79962|0.79962	1.087000|1.087000	0.41251|0.41251	0.533000|0.533000	0.62120|0.62120	ATG|CAA	-	superfamily_KA1/Ssp2_C		0.502	MARK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK3	protein_coding	OTTHUMT00000415144.1	A	NM_001128918	-		103969310	+1	no_errors	ENST00000429436	ensembl	human	known	74_37	missense	SNP	1.000	T
KIAA0020	9933	genome.wustl.edu	37	9	2833369	2833369	+	Silent	SNP	C	C	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr9:2833369C>A	ENST00000397885.2	-	5	710	c.504G>T	c.(502-504)ggG>ggT	p.G168G		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	168	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TTTTAATTTTCCCTTGAATCA	0.348																																																	0								ENSG00000080608						102.0	90.0	94.0					9																	2833369		2200	4297	6497	KIAA0020	SO:0001819	synonymous_variant	0			-	HGNC	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.504G>T	9.37:g.2833369C>A		Somatic	0	86	0.00		0.36651032841881637	5	90.48	57	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	27	52.63	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.G168	ENST00000397885.2	37	c.504	CCDS6448.2	9																																																																																			-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt		0.348	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	protein_coding	OTTHUMT00000051529.3	C	NM_014878	-		2833369	-1	no_errors	ENST00000397885	ensembl	human	known	74_37	silent	SNP	0.822	A
ASTN2	23245	genome.wustl.edu	37	9	119488226	119488226	+	Missense_Mutation	SNP	A	A	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr9:119488226A>T	ENST00000313400.4	-	16	2730	c.2630T>A	c.(2629-2631)tTc>tAc	p.F877Y	ASTN2_ENST00000361209.2_Missense_Mutation_p.F826Y|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.F873Y			O75129	ASTN2_HUMAN	astrotactin 2	877					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AACATTAGTGAAGCCTGGACA	0.527																																																	0								ENSG00000148219						99.0	91.0	93.0					9																	119488226		2203	4300	6503	ASTN2	SO:0001583	missense	0			-	HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2630T>A	9.37:g.119488226A>T	ENSP00000314038:p.Phe877Tyr	Somatic	0	43	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	30.00	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.F877Y	ENST00000313400.4	37	c.2630		9	.	.	.	.	.	.	.	.	.	.	A	17.39	3.376331	0.61735	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	5.93	5.93	0.95920	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	D	0.94069	0.8099	L	0.59436	1.845	0.80722	D	1	D;D;D	0.69078	0.996;0.997;0.995	P;D;D	0.76071	0.851;0.987;0.945	D	0.93576	0.6908	9	.	.	.	-29.1558	16.3797	0.83452	1.0:0.0:0.0:0.0	.	826;877;873	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	Y	877;873;600;826	ENSP00000314038:F877Y;ENSP00000363108:F873Y;ENSP00000363098:F600Y;ENSP00000354504:F826Y	.	F	-	2	0	ASTN2	118528047	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	9.300000	0.96151	2.271000	0.75665	0.533000	0.62120	TTC	-	pfam_MACPF,smart_MACPF		0.527	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		A	NM_014010	-		119488226	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	SNP	1.000	T
NUP188	23511	genome.wustl.edu	37	9	131755818	131755818	+	Silent	SNP	G	G	T	rs374088721		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr9:131755818G>T	ENST00000372577.2	+	27	2883	c.2862G>T	c.(2860-2862)ggG>ggT	p.G954G		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	954					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)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCAGCCTTGGGATGTGGAGCT	0.557																																																	0								ENSG00000095319						182.0	166.0	171.0					9																	131755818		2203	4300	6503	NUP188	SO:0001819	synonymous_variant	0			-	HGNC	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2862G>T	9.37:g.131755818G>T		Somatic	0	50	0.00		0.36651032841881637	57	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.G954	ENST00000372577.2	37	c.2862	CCDS35156.1	9																																																																																			-	superfamily_ARM-type_fold		0.557	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	protein_coding	OTTHUMT00000054529.2	G		-		131755818	+1	no_errors	ENST00000372577	ensembl	human	known	74_37	silent	SNP	0.293	T
RDH10	157506	genome.wustl.edu	37	8	74234977	74234977	+	Missense_Mutation	SNP	G	G	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr8:74234977G>T	ENST00000240285.5	+	5	1512	c.834G>T	c.(832-834)aaG>aaT	p.K278N	RP11-434I12.2_ENST00000517475.1_RNA|RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.K113N	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	278					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			AGGCCATGAAGGCCATCCTCA	0.463																																																	0								ENSG00000121039						106.0	95.0	98.0					8																	74234977		2203	4300	6503	RDH10	SO:0001583	missense	0			-	HGNC	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.834G>T	8.37:g.74234977G>T	ENSP00000240285:p.Lys278Asn	Somatic	0	57	0.00		0.36651032841881637	18	14.29	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.K278N	ENST00000240285.5	37	c.834	CCDS6213.1	8	.	.	.	.	.	.	.	.	.	.	G	3.284	-0.146478	0.06627	.	.	ENSG00000121039	ENST00000240285;ENST00000519380	D;T	0.89617	-2.54;0.69	5.55	4.68	0.58851	NAD(P)-binding domain (1);	0.190862	0.53938	D	0.000041	T	0.70701	0.3254	N	0.03324	-0.35	0.32256	N	0.570744	B	0.02656	0.0	B	0.04013	0.001	T	0.65734	-0.6096	10	0.13853	T	0.58	.	6.2482	0.20832	0.2936:0.0:0.7064:0.0	.	278	Q8IZV5	RDH10_HUMAN	N	278;113	ENSP00000240285:K278N;ENSP00000428132:K113N	ENSP00000240285:K278N	K	+	3	2	RDH10	74397531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.642000	0.37207	1.584000	0.49913	0.591000	0.81541	AAG	-	NULL		0.463	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RDH10	protein_coding	OTTHUMT00000378982.1	G		-		74234977	+1	no_errors	ENST00000240285	ensembl	human	known	74_37	missense	SNP	1.000	T
DNMT1	1786	genome.wustl.edu	37	19	10251834	10251834	+	Missense_Mutation	SNP	T	T	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:10251834T>A	ENST00000340748.4	-	30	3528	c.3293A>T	c.(3292-3294)gAt>gTt	p.D1098V	DNMT1_ENST00000540357.1_Missense_Mutation_p.D1098V|DNMT1_ENST00000589538.1_5'UTR|DNMT1_ENST00000359526.4_Missense_Mutation_p.D1114V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1098	BAH 2. {ECO:0000255|PROSITE- ProRule:PRU00370}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GTTGGGAGGATCTTCAAAGCT	0.448																																																	0								ENSG00000130816						178.0	168.0	171.0					19																	10251834		2203	4300	6503	DNMT1	SO:0001583	missense	0			-	HGNC	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3293A>T	19.37:g.10251834T>A	ENSP00000345739:p.Asp1098Val	Somatic	0	45	0.00		0.36651032841881637	156	20.81	41	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	43	29.51	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.D1114V	ENST00000340748.4	37	c.3341	CCDS12228.1	19	.	.	.	.	.	.	.	.	.	.	T	27.0	4.794646	0.90453	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.86164	-2.08;-2.08;-2.08	5.6	5.6	0.85130	Bromo adjacent homology (BAH) domain (3);	0.000000	0.85682	D	0.000000	D	0.90143	0.6920	M	0.70275	2.135	0.80722	D	1	P;P;P	0.46395	0.851;0.712;0.877	P;B;P	0.51742	0.55;0.395;0.678	D	0.89874	0.4025	10	0.42905	T	0.14	.	14.7486	0.69508	0.0:0.0:0.0:1.0	.	1098;1114;1098	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	V	1114;1098;1098;966	ENSP00000352516:D1114V;ENSP00000440457:D1098V;ENSP00000345739:D1098V	ENSP00000345739:D1098V	D	-	2	0	DNMT1	10112834	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.930000	0.87610	2.136000	0.66102	0.533000	0.62120	GAT	-	pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom		0.448	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	protein_coding	OTTHUMT00000451166.1	T	NM_001379	-		10251834	-1	no_errors	ENST00000359526	ensembl	human	known	74_37	missense	SNP	1.000	A
VAMP7	6845	genome.wustl.edu	37	X	155119268	155119268	+	Missense_Mutation	SNP	C	C	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:155119268C>A	ENST00000286448.6	+	2	304	c.139C>A	c.(139-141)Cat>Aat	p.H47N	VAMP7_ENST00000262640.6_Missense_Mutation_p.H47N|VAMP7_ENST00000460621.1_Intron|VAMP7_ENST00000479687.1_3'UTR	NM_001145149.2|NM_005638.5	NP_001138621.1|NP_005629.1	P51809	VAMP7_HUMAN	vesicle-associated membrane protein 7	47	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				calcium ion-dependent exocytosis (GO:0017156)|endosome to lysosome transport (GO:0008333)|eosinophil degranulation (GO:0043308)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane protein transport (GO:0043001)|membrane organization (GO:0061024)|neutrophil degranulation (GO:0043312)|phagocytosis, engulfment (GO:0006911)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of protein targeting to vacuolar membrane (GO:1900483)|SNARE complex assembly (GO:0035493)|triglyceride transport (GO:0034197)|vesicle fusion (GO:0006906)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle-mediated transport (GO:0016192)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)				large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AACGTACTCACATGGCAAGTG	0.418																																																	0								ENSG00000124333						204.0	191.0	195.0					X																	155119268		2203	4296	6499	VAMP7	SO:0001583	missense	0			-	HGNC	AJ295938	CCDS14770.4, CCDS48199.1, CCDS55548.1	Xq28 and Yq12	2013-02-13	2007-12-05	2007-12-05	ENSG00000124333	ENSG00000124333		"""Pseudoautosomal regions / PAR2"", ""Vesicle-associated membrane proteins"""	11486	protein-coding gene	gene with protein product		300053	"""synaptobrevin-like 1"""	SYBL1		8640232, 11440841	Standard	NM_001145149		Approved	VAMP-7, TI-VAMP	uc004fns.3	P51809	OTTHUMG00000022679	ENST00000286448.6:c.139C>A	X.37:g.155119268C>A	ENSP00000286448:p.His47Asn	Somatic	0	314	0.00		0.36651032841881637	2	66.67	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	145	21.20	Q53GY7|Q7Z409|Q9H4A7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Longin-like_dom,pfscan_Longin_dom	p.H47N	ENST00000286448.6	37	c.139	CCDS14770.4	X	.	.	.	.	.	.	.	.	.	.	C	15.04	2.715076	0.48622	.	.	ENSG00000124333	ENST00000286448;ENST00000262640	T;T	0.23950	1.88;1.88	2.83	2.83	0.33086	Longin (2);Longin-like (1);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	.	.	.	0.09310	N	1	P;D	0.67145	0.904;0.996	P;D	0.72982	0.766;0.979	T	0.09185	-1.0686	9	0.34782	T	0.22	.	10.9779	0.47478	0.0:1.0:0.0:0.0	.	47;47	P51809-2;P51809	.;VAMP7_HUMAN	N	47	ENSP00000286448:H47N;ENSP00000262640:H47N	ENSP00000262640:H47N	H	+	1	0	VAMP7	154772462	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.648000	0.83479	1.712000	0.51347	0.287000	0.19450	CAT	-	superfamily_Longin-like_dom,pfscan_Longin_dom		0.418	VAMP7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VAMP7	protein_coding	OTTHUMT00000058843.1	C	NM_005638	-		155119268	+1	no_errors	ENST00000262640	ensembl	human	known	74_37	missense	SNP	1.000	A
FAT3	120114	genome.wustl.edu	37	11	92623796	92623796	+	Silent	SNP	T	T	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr11:92623796T>A	ENST00000298047.6	+	27	13304	c.13287T>A	c.(13285-13287)ggT>ggA	p.G4429G	FAT3_ENST00000533797.1_Silent_p.G732G|FAT3_ENST00000409404.2_Silent_p.G4397G|FAT3_ENST00000525166.1_Silent_p.G4279G|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4429					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACTACCTGGGTGGTTATGACA	0.562										TCGA Ovarian(4;0.039)																																							0								ENSG00000165323						53.0	61.0	58.0					11																	92623796		2050	4193	6243	FAT3	SO:0001819	synonymous_variant	0			-	HGNC	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.13287T>A	11.37:g.92623796T>A		Somatic	0	58	0.00		0.36651032841881637	0	100.00	4	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	B5MDB0|Q96AU6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G4429	ENST00000298047.6	37	c.13287		11																																																																																			-	NULL		0.562	FAT3-201	KNOWN	basic	protein_coding	FAT3	protein_coding		T	NM_001008781	-		92623796	+1	no_errors	ENST00000298047	ensembl	human	known	74_37	silent	SNP	0.927	A
PTPRB	5787	genome.wustl.edu	37	12	71003064	71003064	+	Missense_Mutation	SNP	G	G	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr12:71003064G>C	ENST00000261266.5	-	2	139	c.110C>G	c.(109-111)tCc>tGc	p.S37C	PTPRB_ENST00000550358.1_Missense_Mutation_p.S255C|PTPRB_ENST00000334414.6_Missense_Mutation_p.S255C|PTPRB_ENST00000538708.1_Missense_Mutation_p.S37C|PTPRB_ENST00000551525.1_Missense_Mutation_p.S254C|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.S37C|PTPRB_ENST00000451516.2_Missense_Mutation_p.S37C	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	37	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGAATGGCTGGAGGCCTTGGA	0.537																																																	0								ENSG00000127329						55.0	59.0	58.0					12																	71003064		1915	4111	6026	PTPRB	SO:0001583	missense	0			-	HGNC	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.110C>G	12.37:g.71003064G>C	ENSP00000261266:p.Ser37Cys	Somatic	0	67	0.00		0.36651032841881637	3	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S255C	ENST00000261266.5	37	c.764	CCDS44944.1	12	.	.	.	.	.	.	.	.	.	.	G	12.46	1.945049	0.34283	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.05786	3.39;3.39;3.39;3.39;3.39;3.39;3.39;3.39	4.89	4.01	0.46588	Fibronectin, type III (3);	0.436137	0.23110	N	0.051817	T	0.18759	0.0450	L	0.60455	1.87	0.23287	N	0.997973	D;D;D;D;P;D;P;D	0.89917	1.0;1.0;0.995;0.999;0.946;0.989;0.953;0.996	D;D;D;D;P;P;P;P	0.72075	0.976;0.976;0.933;0.954;0.716;0.83;0.859;0.893	T	0.01661	-1.1301	10	0.66056	D	0.02	.	10.5869	0.45288	0.0906:0.0:0.9094:0.0	.	37;37;134;255;254;255;37;255	P23467-2;F5H3G6;Q6ZR19;Q6ZTX7;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;.;PTPRB_HUMAN;.	C	255;37;255;255;37;37;37;254;134	ENSP00000334928:S255C;ENSP00000393028:S37C;ENSP00000448058:S255C;ENSP00000438927:S37C;ENSP00000447302:S37C;ENSP00000261266:S37C;ENSP00000448349:S254C;ENSP00000446982:S134C	ENSP00000261266:S37C	S	-	2	0	PTPRB	69289331	1.000000	0.71417	0.991000	0.47740	0.031000	0.12232	2.544000	0.45761	1.278000	0.44430	0.591000	0.81541	TCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.537	PTPRB-007	KNOWN	basic|CCDS	protein_coding	PTPRB	protein_coding	OTTHUMT00000404439.1	G		-		71003064	-1	no_errors	ENST00000334414	ensembl	human	known	74_37	missense	SNP	1.000	C
FMO6P	388714	genome.wustl.edu	37	1	171121165	171121165	+	Missense_Mutation	SNP	A	A	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:171121165A>T	ENST00000236166.3	+	6	1054	c.944A>T	c.(943-945)gAt>gTt	p.D315V				O60774	FMO6_HUMAN	flavin containing monooxygenase 6 pseudogene	315						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)										GTGTTTGAGGATGGGACCATG	0.483																																																	0								ENSG00000117507																																			FMO6P	SO:0001583	missense	0			-	HGNC	AK130511		1q24.3	2011-08-04	2006-12-04	2006-12-04	ENSG00000117507	ENSG00000117507			24024	pseudogene	pseudogene			"""flavin containing monooxygenase 6"""	FMO6		15077013	Standard	NR_002601		Approved		uc001ghj.1	O60774	OTTHUMG00000035503	ENST00000236166.3:c.944A>T	1.37:g.171121165A>T	ENSP00000236166:p.Asp315Val	Somatic	0	122	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	97	19.83		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_3,prints_Flavin_mOase_1	p.D315V	ENST00000236166.3	37	c.944		1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149479	0.57151	.	.	ENSG00000117507	ENST00000236166	.	.	.	5.19	4.07	0.47477	.	0.000000	0.85682	U	0.000000	T	0.71316	0.3325	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75769	-0.3201	8	0.87932	D	0	-9.2632	10.3674	0.44033	0.9219:0.0:0.0781:0.0	.	315	O60774	FMO6_HUMAN	V	315	.	ENSP00000236166:D315V	D	+	2	0	FMO6P	169387789	1.000000	0.71417	1.000000	0.80357	0.445000	0.32107	5.314000	0.65804	0.827000	0.34685	0.377000	0.23210	GAT	-	pfam_Flavin_mOase-like,prints_Flavin_mOase		0.483	FMO6P-003	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	FMO6P	protein_coding	OTTHUMT00000385941.4	A	XM_371326	-		171121165	+1	no_errors	ENST00000236166	ensembl	human	novel	74_37	missense	SNP	1.000	T
TBC1D9	23158	genome.wustl.edu	37	4	141548601	141548601	+	Missense_Mutation	SNP	T	T	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr4:141548601T>C	ENST00000442267.2	-	18	2967	c.2893A>G	c.(2893-2895)Aca>Gca	p.T965A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	965							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTACCATGTGTACATTCTGGG	0.403																																																	0								ENSG00000109436						75.0	74.0	75.0					4																	141548601		1855	4084	5939	TBC1D9	SO:0001583	missense	0			-	HGNC	AB020689	CCDS47136.1	4q31.1	2013-01-10	2006-07-12		ENSG00000109436	ENSG00000109436		"""EF-hand domain containing"""	21710	protein-coding gene	gene with protein product			"""TBC1 domain family, member 9"""			12970790	Standard	NM_015130		Approved	KIAA0882, MDR1	uc010ioj.3	Q6ZT07	OTTHUMG00000161405	ENST00000442267.2:c.2893A>G	4.37:g.141548601T>C	ENSP00000411197:p.Thr965Ala	Somatic	0	61	0.00		0.36651032841881637	15	42.31	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	51	8.93	A6H8U8|D3DNZ1|O94958	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom	p.T965A	ENST00000442267.2	37	c.2893	CCDS47136.1	4	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523315	0.44866	.	.	ENSG00000109436	ENST00000442267	T	0.07688	3.17	5.7	5.7	0.88788	.	0.127081	0.53938	D	0.000052	T	0.07728	0.0194	L	0.38838	1.175	0.48762	D	0.999702	B	0.02656	0.0	B	0.04013	0.001	T	0.12941	-1.0528	10	0.06891	T	0.86	-5.3443	15.9767	0.80071	0.0:0.0:0.0:1.0	.	965	Q6ZT07	TBCD9_HUMAN	A	965	ENSP00000411197:T965A	ENSP00000411197:T965A	T	-	1	0	TBC1D9	141768051	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.485000	0.66850	2.186000	0.69663	0.533000	0.62120	ACA	-	NULL		0.403	TBC1D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D9	protein_coding	OTTHUMT00000364806.1	T	NM_015130	-		141548601	-1	no_errors	ENST00000442267	ensembl	human	known	74_37	missense	SNP	1.000	C
EML6	400954	genome.wustl.edu	37	2	55071335	55071335	+	Silent	SNP	G	G	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr2:55071335G>A	ENST00000356458.6	+	7	1519	c.999G>A	c.(997-999)ctG>ctA	p.L333L		NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	333						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						CTCTGGCCCTGCACCCCAAGA	0.567																																																	0								ENSG00000214595						50.0	49.0	49.0					2																	55071335		692	1591	2283	EML6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.999G>A	2.37:g.55071335G>A		Somatic	0	39	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	A8MUB5|B6ZDG7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L333	ENST00000356458.6	37	c.999	CCDS46286.1	2																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.567	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	protein_coding	OTTHUMT00000324997.3	G	XM_001725002	-		55071335	+1	no_errors	ENST00000356458	ensembl	human	novel	74_37	silent	SNP	0.998	A
LRRC17	10234	genome.wustl.edu	37	7	102575070	102575070	+	Missense_Mutation	SNP	T	T	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr7:102575070T>C	ENST00000339431.4	+	2	1005	c.710T>C	c.(709-711)gTg>gCg	p.V237A	FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000249377.4_Missense_Mutation_p.V237A	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	237	LRRNT.				bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAGCCTGAGGTGGACTCAACT	0.408																																																	0								ENSG00000128606						56.0	59.0	58.0					7																	102575070		2201	4300	6501	LRRC17	SO:0001583	missense	0			-	HGNC	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.710T>C	7.37:g.102575070T>C	ENSP00000344242:p.Val237Ala	Somatic	0	98	0.00		0.36651032841881637	81	25.69	28	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	85	14.14	Q13288|Q6UWA7|Q75MG5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V237A	ENST00000339431.4	37	c.710	CCDS34721.1	7	.	.	.	.	.	.	.	.	.	.	T	6.816	0.519718	0.13005	.	.	ENSG00000128606	ENST00000339431;ENST00000249377	T;T	0.60171	3.57;0.21	5.58	-1.87	0.07737	.	0.894077	0.09306	N	0.820242	T	0.28001	0.0690	N	0.08118	0	0.25068	N	0.991015	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.25779	-1.0122	10	0.07325	T	0.83	-1.9423	6.223	0.20691	0.1143:0.3416:0.0:0.5441	.	237;237	Q8N6Y2;Q8N6Y2-2	LRC17_HUMAN;.	A	237	ENSP00000344242:V237A;ENSP00000249377:V237A	ENSP00000249377:V237A	V	+	2	0	LRRC17	102362306	0.713000	0.27926	0.967000	0.41034	0.960000	0.62799	1.203000	0.32284	-0.179000	0.10654	0.460000	0.39030	GTG	-	NULL		0.408	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC17	protein_coding	OTTHUMT00000347930.1	T	NM_005824	-		102575070	+1	no_errors	ENST00000339431	ensembl	human	known	74_37	missense	SNP	0.548	C
EOMES	8320	genome.wustl.edu	37	3	27763427	27763428	+	In_Frame_Ins	INS	-	-	CGGCGC	rs368178421|rs1874198|rs3062761	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr3:27763427_27763428insCGGCGC	ENST00000295743.4	-	1	561_562	c.358_359insGCGCCG	c.(358-360)gcc>gGCGCCGcc	p.119_120insGA	EOMES_ENST00000461503.1_Intron|EOMES_ENST00000449599.1_In_Frame_Ins_p.119_120insGA|EOMES_ENST00000537516.1_Intron			O95936	EOMES_HUMAN	eomesodermin	119	Ala-rich.		A -> G (in dbSNP:rs12715125).		brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggcggcggcggctgcagcggcg	0.767														2685	0.536142	0.3147	0.5274	5008	,	,		7250	0.8363		0.3837	False		,,,				2504	0.6892																0								ENSG00000163508			101,91,844		44,2,11,38,13,410						-0.4	0.1		dbSNP_102	1	316,357,1963		136,0,44,143,71,924	no	codingComplex	EOMES	NM_005442.2		180,2,55,181,84,1334	A1A1,A1A2,A1R,A2A2,A2R,RR		25.5311,18.5328,23.5566				417,448,2807				EOMES	SO:0001652	inframe_insertion	0				HGNC	BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.358_359insGCGCCG	3.37:g.27763427_27763428insCGGCGC	ENSP00000295743:p.Ala119_Ala120insGlyAla	Somatic	NA	NA	NA		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.120in_frame_insGA	ENST00000295743.4	37	c.359_358	CCDS2646.1	3																																																																																			-	NULL		0.767	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	protein_coding	OTTHUMT00000252995.1	-	NM_005442			27763428	-1	no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_ins	INS	0.116:0.075	CGGCGC
BIRC6	57448	genome.wustl.edu	37	2	32728303	32728303	+	Splice_Site	SNP	G	G	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr2:32728303G>T	ENST00000421745.2	+	49	9633	c.9499G>T	c.(9499-9501)Ggt>Tgt	p.G3167C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3167					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGCACCCCTCGGTAAGAAAAG	0.348																																					Pancreas(94;175 1509 16028 18060 45422)												0								ENSG00000115760						57.0	56.0	56.0					2																	32728303		2203	4300	6503	BIRC6	SO:0001630	splice_region_variant	0			-	HGNC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.9499+1G>T	2.37:g.32728303G>T		Somatic	0	15	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	Q9ULD1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.G3167C	ENST00000421745.2	37	c.9499	CCDS33175.2	2	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803379	0.50315	.	.	ENSG00000115760	ENST00000421745	T	0.76709	-1.04	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.81317	0.4797	N	0.17474	0.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79434	-0.1805	10	0.33940	T	0.23	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	3167	Q9NR09	BIRC6_HUMAN	C	3167	ENSP00000393596:G3167C	ENSP00000393596:G3167C	G	+	1	0	BIRC6	32581807	1.000000	0.71417	0.971000	0.41717	0.668000	0.39293	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGT	-	NULL		0.348	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	protein_coding	OTTHUMT00000318769.3	G	NM_016252	-	Missense_Mutation	32728303	+1	no_errors	ENST00000421745	ensembl	human	known	74_37	missense	SNP	1.000	T
RBMXL3	139804	genome.wustl.edu	37	X	114424991	114424991	+	Silent	SNP	C	C	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:114424991C>T	ENST00000424776.3	+	1	1029	c.987C>T	c.(985-987)taC>taT	p.Y329Y	LRCH2_ENST00000317135.8_Intron|LRCH2_ENST00000538422.1_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	329							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						GATGCCGCTACGAGGAGTACC	0.657																																																	0								ENSG00000175718						34.0	35.0	35.0					X																	114424991		692	1591	2283	RBMXL3	SO:0001819	synonymous_variant	0			-	HGNC	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.987C>T	X.37:g.114424991C>T		Somatic	0	62	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	B4DXC0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y329	ENST00000424776.3	37	c.987	CCDS55478.1	X																																																																																			-	NULL		0.657	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	protein_coding	OTTHUMT00000057968.3	C	NM_001145346	-		114424991	+1	no_errors	ENST00000424776	ensembl	human	known	74_37	silent	SNP	0.001	T
TIAM2	26230	genome.wustl.edu	37	6	155469272	155469272	+	Missense_Mutation	SNP	G	G	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr6:155469272G>T	ENST00000461783.3	+	9	3105	c.1832G>T	c.(1831-1833)tGg>tTg	p.W611L	TIAM2_ENST00000360366.4_Missense_Mutation_p.W611L|TIAM2_ENST00000318981.5_Missense_Mutation_p.W611L|TIAM2_ENST00000529824.2_Missense_Mutation_p.W611L|TIAM2_ENST00000456877.2_5'Flank|TIAM2_ENST00000528391.2_5'Flank|TIAM2_ENST00000456144.1_Missense_Mutation_p.W611L|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	611	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTAGAAAACTGGGTCACTGCT	0.498																																																	0								ENSG00000146426						124.0	123.0	123.0					6																	155469272		2203	4300	6503	TIAM2	SO:0001583	missense	0			-	HGNC		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.1832G>T	6.37:g.155469272G>T	ENSP00000437188:p.Trp611Leu	Somatic	0	73	0.00		0.36651032841881637	1	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain	p.W611L	ENST00000461783.3	37	c.1832	CCDS34558.1	6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023718	0.93462	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000360366;ENST00000529824	D;D;D;D;D;D	0.99304	-5.72;-5.72;-5.72;-5.72;-5.72;-5.72	5.35	5.35	0.76521	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99194	1.0871	10	0.87932	D	0	.	19.1024	0.93279	0.0:0.0:1.0:0.0	.	611;611	Q8IVF5-2;Q8IVF5	.;TIAM2_HUMAN	L	611;857;611;611;611;611;611	ENSP00000437188:W611L;ENSP00000434901:W611L;ENSP00000407746:W611L;ENSP00000327315:W611L;ENSP00000353528:W611L;ENSP00000433348:W611L	ENSP00000327315:W611L	W	+	2	0	TIAM2	155510964	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.476000	0.97823	2.503000	0.84419	0.563000	0.77884	TGG	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.498	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	TIAM2	protein_coding	OTTHUMT00000387980.2	G	NM_012454	-		155469272	+1	no_errors	ENST00000456144	ensembl	human	known	74_37	missense	SNP	1.000	T
KLHDC7B	113730	genome.wustl.edu	37	22	50988102	50988102	+	Missense_Mutation	SNP	G	G	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr22:50988102G>A	ENST00000395676.2	+	1	1641	c.1507G>A	c.(1507-1509)Ggc>Agc	p.G503S	CTA-384D8.31_ENST00000434237.1_RNA	NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	503								p.G404S(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGCTGCGGGGCGTGGGCGC	0.697																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000130487						35.0	40.0	39.0					22																	50988102		2200	4289	6489	KLHDC7B	SO:0001583	missense	0			-	HGNC	BC009980	CCDS14097.2	22q13.33	2006-11-29		2005-12-13	ENSG00000130487	ENSG00000130487			25145	protein-coding gene	gene with protein product							Standard	NM_138433		Approved	MGC16635	uc003bmi.3	Q96G42	OTTHUMG00000150250	ENST00000395676.2:c.1507G>A	22.37:g.50988102G>A	ENSP00000379034:p.Gly503Ser	Somatic	0	91	0.00		0.36651032841881637	66	21.43	18	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	42	23.64		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kelch_1,smart_Kelch_1	p.G503S	ENST00000395676.2	37	c.1507	CCDS14097.2	22	.	.	.	.	.	.	.	.	.	.	G	9.051	0.992081	0.18966	.	.	ENSG00000130487	ENST00000395676	T	0.10005	2.92	5.35	5.35	0.76521	Kelch-type beta propeller (1);	0.000000	0.42420	U	0.000717	T	0.11665	0.0284	L	0.37850	1.14	0.38186	D	0.939773	B	0.24823	0.112	B	0.24974	0.057	T	0.08680	-1.0710	10	0.42905	T	0.14	.	16.5472	0.84450	0.0:0.0:1.0:0.0	.	503	Q96G42	KLD7B_HUMAN	S	503	ENSP00000379034:G503S	ENSP00000379034:G503S	G	+	1	0	KLHDC7B	49334968	1.000000	0.71417	0.997000	0.53966	0.069000	0.16628	4.540000	0.60664	2.528000	0.85240	0.491000	0.48974	GGC	-	NULL		0.697	KLHDC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC7B	protein_coding	OTTHUMT00000317089.2	G	NM_138433	-		50988102	+1	no_errors	ENST00000395676	ensembl	human	known	74_37	missense	SNP	1.000	A
IL12RB1	3594	genome.wustl.edu	37	19	18186635	18186635	+	Silent	SNP	G	G	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:18186635G>A	ENST00000600835.2	-	8	922	c.624C>T	c.(622-624)ttC>ttT	p.F208F	IL12RB1_ENST00000322153.7_Silent_p.F208F|IL12RB1_ENST00000593993.2_Silent_p.F208F			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	208	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						GTCGGAGCTGGAATTCCTGGG	0.597																																																	0								ENSG00000096996						58.0	63.0	61.0					19																	18186635		2203	4300	6503	IL12RB1	SO:0001819	synonymous_variant	0			-	HGNC	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.624C>T	19.37:g.18186635G>A		Somatic	0	106	0.00		0.36651032841881637	69	4.17	3	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	97	12.61	A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.F208	ENST00000600835.2	37	c.624	CCDS54232.1	19																																																																																			-	superfamily_Fibronectin_type3		0.597	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL12RB1	protein_coding	OTTHUMT00000466525.3	G		-		18186635	-1	no_errors	ENST00000593993	ensembl	human	known	74_37	silent	SNP	0.247	A
LPO	4025	genome.wustl.edu	37	17	56342328	56342328	+	Silent	SNP	C	C	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr17:56342328C>T	ENST00000262290.4	+	10	1828	c.1512C>T	c.(1510-1512)gtC>gtT	p.V504V	LPO_ENST00000421678.2_Silent_p.V421V|LPO_ENST00000582328.1_Silent_p.V421V|LPO_ENST00000543544.1_Silent_p.V445V	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	504					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGAGGATGGTCAAAGATGGTA	0.527																																																	0								ENSG00000167419						87.0	70.0	75.0					17																	56342328		2203	4300	6503	LPO	SO:0001819	synonymous_variant	0			-	HGNC	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.1512C>T	17.37:g.56342328C>T		Somatic	0	78	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	78	9.30	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.V504	ENST00000262290.4	37	c.1512	CCDS32689.1	17																																																																																			-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.527	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	protein_coding	OTTHUMT00000443961.1	C		-		56342328	+1	no_errors	ENST00000262290	ensembl	human	known	74_37	silent	SNP	1.000	T
TRPA1	8989	genome.wustl.edu	37	8	72967429	72967436	+	Intron	DEL	AGAATATT	AGAATATT	-	rs59090747|rs201714075|rs11273995|rs72413292|rs60722858	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	AGAATATT	AGAATATT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr8:72967429_72967436delAGAATATT	ENST00000262209.4	-	12	1737				RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1						calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTCTGTGAACAGAATATTCTTGAACAAG	0.327																																																	0								ENSG00000235531																																			RP11-383H13.1	SO:0001627	intron_variant	0				Clone_based_vega_gene	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.1529+234AATATTCT>-	8.37:g.72967429_72967436delAGAATATT		Somatic	NA	NA	NA		0.36651032841881637	3	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NIN6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000262209.4	37	NULL	CCDS34908.1	8																																																																																			-	-		0.327	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100132891	protein_coding	OTTHUMT00000379079.2	AGAATATT	NM_007332			72967436	+1	no_errors	ENST00000457356	ensembl	human	known	74_37	rna	DEL	0.376:0.321:0.267:0.212:0.159:0.106:0.053:0.000	-
GRAP2	9402	genome.wustl.edu	37	22	40362092	40362092	+	Missense_Mutation	SNP	A	A	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr22:40362092A>T	ENST00000344138.4	+	5	652	c.389A>T	c.(388-390)gAc>gTc	p.D130V	RP3-370M22.8_ENST00000424496.1_RNA|GRAP2_ENST00000407075.3_Missense_Mutation_p.D130V|GRAP2_ENST00000540310.1_Missense_Mutation_p.D64V|GRAP2_ENST00000543252.1_Missense_Mutation_p.D90V|GRAP2_ENST00000544756.1_Missense_Mutation_p.D58V|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000478445.1_3'UTR	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	130	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AAGCTGGTAGACTACTACAGG	0.463																																																	0								ENSG00000100351						121.0	103.0	109.0					22																	40362092		2203	4300	6503	GRAP2	SO:0001583	missense	0			-	HGNC	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.389A>T	22.37:g.40362092A>T	ENSP00000339186:p.Asp130Val	Somatic	0	85	0.00		0.36651032841881637	15	11.76	2	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	74	11.90	B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SH3_domain,pfam_SH2,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2,prints_SH3_domain	p.D130V	ENST00000344138.4	37	c.389	CCDS13999.1	22	.	.	.	.	.	.	.	.	.	.	A	33	5.215817	0.95104	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000407075	D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41	6.03	6.03	0.97812	SH2 motif (5);	0.277631	0.44483	D	0.000446	D	0.94009	0.8081	M	0.79123	2.44	0.80722	D	1	D;D;D;D	0.67145	0.982;0.996;0.991;0.982	P;D;D;P	0.65010	0.88;0.931;0.93;0.88	D	0.94549	0.7752	10	0.87932	D	0	-46.4399	16.5582	0.84512	1.0:0.0:0.0:0.0	.	130;64;104;130	Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;GRAP2_HUMAN	V	130;90;104;64;58;130	ENSP00000339186:D130V;ENSP00000446350:D90V;ENSP00000444734:D64V;ENSP00000442195:D58V;ENSP00000385607:D130V	ENSP00000339186:D130V	D	+	2	0	GRAP2	38692038	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.238000	0.95380	2.308000	0.77769	0.533000	0.62120	GAC	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.463	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAP2	protein_coding	OTTHUMT00000321295.1	A	NM_004810	-		40362092	+1	no_errors	ENST00000344138	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC6A10PB	653562	genome.wustl.edu	37	16	32896547	32896547	+	lincRNA	SNP	G	G	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr16:32896547G>T	ENST00000398669.2	+	0	0				SLC6A10P_ENST00000330048.5_RNA																							cggggggcgggggAGCTCACC	0.721																																																	0								ENSG00000214614																																			RP11-989E6.3			0			-	Clone_based_vega_gene																													16.37:g.32896547G>T		Somatic	0	118	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	76	8.43		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000398669.2	37	NULL		16																																																																																			-	-		0.721	RP11-989E6.3-002	KNOWN	basic	lincRNA	ENSG00000214614	lincRNA	OTTHUMT00000432084.1	G		-		32896547	+1	no_errors	ENST00000566260	ensembl	human	known	74_37	rna	SNP	0.006	T
ZNF280D	54816	genome.wustl.edu	37	15	56999299	56999299	+	Silent	SNP	G	G	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr15:56999299G>A	ENST00000267807.7	-	3	225	c.9C>T	c.(7-9)gaC>gaT	p.D3D	ZNF280D_ENST00000396245.1_Intron|ZNF280D_ENST00000558320.1_Silent_p.D3D|ZNF280D_ENST00000559000.1_Intron|ZNF280D_ENST00000559237.1_Intron	NM_017661.2	NP_060131.2	Q6N043	Z280D_HUMAN	zinc finger protein 280D	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GAAAAGGGTTGTCGCCCATCA	0.373																																																	0								ENSG00000137871						107.0	94.0	98.0					15																	56999299		2192	4292	6484	ZNF280D	SO:0001819	synonymous_variant	0			-	HGNC	AB046804	CCDS32245.1, CCDS42041.1, CCDS58364.1	15q21.2	2008-05-02	2007-09-20	2007-09-20					25953	protein-coding gene	gene with protein product			"""suppressor of hairy wing homolog 4 (Drosophila)"""	SUHW4		10997877	Standard	XM_005254481		Approved	FLJ20086, ZNF634	uc002adu.3	Q6N043		ENST00000267807.7:c.9C>T	15.37:g.56999299G>A		Somatic	0	109	0.00		0.36651032841881637	56	16.42	11	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	91	14.95	A1L495|B2RMT6|Q6MZM6|Q6N085|Q6P2R6|Q7Z6J5|Q9H0U5|Q9HCI8|Q9NXS0	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D3	ENST00000267807.7	37	c.9	CCDS32245.1	15																																																																																			-	NULL		0.373	ZNF280D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF280D	protein_coding	OTTHUMT00000418891.2	G	XM_370867	-		56999299	-1	no_errors	ENST00000267807	ensembl	human	known	74_37	silent	SNP	0.987	A
LMAN1L	79748	genome.wustl.edu	37	15	75108829	75108829	+	Nonsense_Mutation	SNP	G	G	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr15:75108829G>A	ENST00000309664.5	+	3	531	c.392G>A	c.(391-393)tGg>tAg	p.W131*	LMAN1L_ENST00000379709.3_Nonsense_Mutation_p.W131*	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	131	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.					integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGCTTCGTGGGACGGCATC	0.672																																																	0								ENSG00000140506						79.0	80.0	80.0					15																	75108829		2197	4296	6493	LMAN1L	SO:0001587	stop_gained	0			-	HGNC	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.392G>A	15.37:g.75108829G>A	ENSP00000310431:p.Trp131*	Somatic	0	108	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	79	13.19	Q6UWN2	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf	p.W131*	ENST00000309664.5	37	c.392	CCDS10270.1	15	.	.	.	.	.	.	.	.	.	.	G	13.74	2.327849	0.41197	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	.	.	.	5.29	4.35	0.52113	.	0.642064	0.15546	N	0.256700	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.0346	0.47793	0.0:0.0:0.8141:0.1859	.	.	.	.	X	131	.	ENSP00000310431:W131X	W	+	2	0	LMAN1L	72895882	0.989000	0.36119	0.409000	0.26459	0.072000	0.16883	2.683000	0.46943	1.180000	0.42898	0.484000	0.47621	TGG	-	pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf		0.672	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	LMAN1L	protein_coding	OTTHUMT00000286397.4	G		-		75108829	+1	no_errors	ENST00000309664	ensembl	human	known	74_37	nonsense	SNP	0.944	A
KCNIP4	80333	genome.wustl.edu	37	4	20852198	20852198	+	Missense_Mutation	SNP	C	C	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr4:20852198C>G	ENST00000382152.2	-	3	423	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	KCNIP4_ENST00000382148.3_Missense_Mutation_p.E61Q|KCNIP4_ENST00000359001.5_Missense_Mutation_p.E24Q|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.E52Q|KCNIP4_ENST00000382150.4_Missense_Mutation_p.E65Q|KCNIP4_ENST00000509207.1_Missense_Mutation_p.E24Q	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	86	EF-hand 1; degenerate. {ECO:0000255|PROSITE-ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				ATCTGAAGCTCTTTCTTGGTA	0.453																																																	0								ENSG00000185774						84.0	89.0	87.0					4																	20852198		2203	4300	6503	KCNIP4	SO:0001583	missense	0			-	HGNC	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.256G>C	4.37:g.20852198C>G	ENSP00000371587:p.Glu86Gln	Somatic	0	76	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	53	15.87	Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EF_hand_dom,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.E65Q	ENST00000382152.2	37	c.193	CCDS43216.1	4	.	.	.	.	.	.	.	.	.	.	C	34	5.376147	0.95945	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.42	5.42	0.78866	EF-hand-like domain (1);	0.228496	0.46758	D	0.000266	T	0.57227	0.2039	M	0.87827	2.91	0.80722	D	1	D;D;D;D	0.69078	0.985;0.985;0.997;0.993	P;P;P;P	0.55749	0.71;0.783;0.783;0.769	T	0.66480	-0.5913	10	0.87932	D	0	.	19.2271	0.93821	0.0:1.0:0.0:0.0	.	61;65;69;86	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	Q	61;52;65;24;86;24;24	ENSP00000371583:E61Q;ENSP00000399080:E52Q;ENSP00000371585:E65Q;ENSP00000371587:E86Q;ENSP00000423257:E24Q;ENSP00000351892:E24Q	ENSP00000351892:E24Q	E	-	1	0	KCNIP4	20461296	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.521000	0.84997	0.655000	0.94253	GAG	-	prints_Recoverin		0.453	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	KCNIP4	protein_coding	OTTHUMT00000360407.3	C	NM_025221	-		20852198	-1	no_errors	ENST00000382150	ensembl	human	known	74_37	missense	SNP	1.000	G
NLRP9	338321	genome.wustl.edu	37	19	56220430	56220431	+	Intron	INS	-	-	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:56220430_56220431insT	ENST00000332836.2	-	9	2871				CTD-2611O12.6_ENST00000600582.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9							cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAGAAATAAAGTTTTTTTTTTT	0.366																																																	0								ENSG00000267865																																			CTD-2611O12.8	SO:0001627	intron_variant	0				Clone_based_vega_gene	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2844-20->A	19.37:g.56220441_56220441dupT		Somatic	0	29	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	26	10.34	B2RN12|Q86W27	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000332836.2	37	NULL	CCDS12934.1	19																																																																																			-	-		0.366	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267865	protein_coding	OTTHUMT00000453653.1	-	NM_176820			56220431	+1	no_errors	ENST00000596293	ensembl	human	known	74_37	rna	INS	0.000:0.000	T
RNF212	285498	genome.wustl.edu	37	4	1087327	1087328	+	Intron	INS	-	-	CTGCCCAGGCTGGAGCCAGCC	rs376912904|rs386670461|rs142232513|rs539986150|rs138488801	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr4:1087327_1087328insCTGCCCAGGCTGGAGCCAGCC	ENST00000433731.2	-	4	308				RNF212_ENST00000382968.5_Intron|RNF212_ENST00000333673.5_In_Frame_Ins_p.241_241S>WLAPAWAA			Q495C1	RN212_HUMAN	ring finger protein 212						chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CAGAGCCTGTGACCTCCACGGC	0.619																																																	0								ENSG00000178222																																			RNF212	SO:0001627	intron_variant	0				HGNC	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.247-2701->GGCTGGCTCCAGCCTGGGCAG	4.37:g.1087327_1087328insCTGCCCAGGCTGGAGCCAGCC		Somatic	NA	NA	NA		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfscan_Znf_RING	p.S241in_frame_insWLAPAWAA	ENST00000433731.2	37	c.722_721	CCDS46996.1	4																																																																																			-	NULL		0.619	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	protein_coding	OTTHUMT00000359124.2	-	NM_194439			1087328	-1	no_errors	ENST00000333673	ensembl	human	known	74_37	in_frame_ins	INS	0.085:0.000	CTGCCCAGGCTGGAGCCAGCC
CCR3	1232	genome.wustl.edu	37	3	46307342	46307343	+	Frame_Shift_Ins	INS	-	-	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr3:46307342_46307343insA	ENST00000357422.2	+	4	1236_1237	c.693_694insA	c.(694-696)aaafs	p.K232fs	CCR3_ENST00000541018.1_Frame_Shift_Ins_p.K232fs|CCR3_ENST00000395940.2_Frame_Shift_Ins_p.K232fs|CCR3_ENST00000395942.2_Frame_Shift_Ins_p.K232fs|CCR3_ENST00000545097.1_Frame_Shift_Ins_p.K253fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	232					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell proliferation (GO:0001938)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GGTGCCCCAGTAAAAAAAAGTA	0.465																																																	0								ENSG00000183625																																			CCR3	SO:0001589	frameshift_variant	0				HGNC	AF247361	CCDS2738.1, CCDS54574.1	3p21.3	2012-08-08			ENSG00000183625	ENSG00000183625		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1604	protein-coding gene	gene with protein product		601268		CMKBR3			Standard	NM_178328		Approved	CC-CKR-3, CKR3, CD193	uc003cpk.2	P51677	OTTHUMG00000133484	ENST00000357422.2:c.701dupA	3.37:g.46307350_46307350dupA	ENSP00000350003:p.Lys232fs	Somatic	0	38	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	B3KVQ1|F5GWL6|Q15748|Q2YDB9|Q86WD2|Q8TDP6|Q9ULY8	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR3,prints_Chemokine_CCR1	p.Y255fs	ENST00000357422.2	37	c.756_757	CCDS2738.1	3																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR3,prints_Chemokine_CCR1		0.465	CCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCR3	protein_coding	OTTHUMT00000257380.2	-				46307343	+1	no_errors	ENST00000545097	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	A
ADH7	131	genome.wustl.edu	37	4	100349015	100349015	+	Missense_Mutation	SNP	A	A	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr4:100349015A>G	ENST00000209665.4	-	5	755	c.515T>C	c.(514-516)aTt>aCt	p.I172T	ADH7_ENST00000476959.1_Missense_Mutation_p.I180T|ADH7_ENST00000482593.1_Missense_Mutation_p.I103T|ADH7_ENST00000437033.2_Missense_Mutation_p.I160T	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	172					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		TGCATCATCAATCTTAGCAAC	0.453																																																	0								ENSG00000196344						218.0	176.0	190.0					4																	100349015		2203	4299	6502	ADH7	SO:0001583	missense	0			-	HGNC	X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.515T>C	4.37:g.100349015A>G	ENSP00000209665:p.Ile172Thr	Somatic	0	66	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	53	15.87	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.I172T	ENST00000209665.4	37	c.515	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	A	17.05	3.290545	0.59976	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959;ENST00000474027	T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5	4.81	0.978	0.19740	GroES-like (1);Alcohol dehydrogenase GroES-like (1);	0.228762	0.43579	D	0.000552	T	0.23727	0.0574	M	0.89840	3.065	0.23991	N	0.996246	D	0.59767	0.986	D	0.71870	0.975	T	0.04333	-1.0959	10	0.87932	D	0	-18.024	6.1393	0.20251	0.7232:0.1356:0.1413:0.0	.	172	P40394	ADH7_HUMAN	T	160;172;103;180;103	ENSP00000414254:I160T;ENSP00000209665:I172T;ENSP00000420613:I103T;ENSP00000420269:I180T;ENSP00000420300:I103T	ENSP00000209665:I172T	I	-	2	0	ADH7	100568038	0.168000	0.22989	0.000000	0.03702	0.086000	0.17979	2.451000	0.44952	0.037000	0.15575	0.533000	0.62120	ATT	-	pfam_ADH_GroES-like,superfamily_GroES-like		0.453	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	protein_coding		A	NM_000673	-		100349015	-1	no_errors	ENST00000209665	ensembl	human	known	74_37	missense	SNP	0.348	G
MT-CO1	4512	genome.wustl.edu	37	M	7240	7240	+	Missense_Mutation	SNP	C	C	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrM:7240C>T	ENST00000361624.2	+	1	1337	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TI_ENST00000387365.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	446					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CTACCCCGATGCATACACCAC	0.418																																																	0								ENSG00000198804																																			MT-CO1	SO:0001583	missense	0			-	HGNC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.1337C>T	M.37:g.7240C>T	ENSP00000354499:p.Ala446Val	Somatic	0	79	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	Q34770	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.A446V	ENST00000361624.2	37	c.1337		MT																																																																																			-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom		0.418	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	protein_coding		C	YP_003024028	-		7240	+1	no_errors	ENST00000361624	ensembl	human	known	74_37	missense	SNP	NULL	T
RBM27	54439	genome.wustl.edu	37	5	145640406	145640406	+	Missense_Mutation	SNP	A	A	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr5:145640406A>G	ENST00000265271.5	+	12	2004	c.1838A>G	c.(1837-1839)aAc>aGc	p.N613S	RBM27_ENST00000506502.1_Missense_Mutation_p.N558S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	613	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTGAACAACATTACCAAG	0.358																																																	0								ENSG00000091009						158.0	138.0	144.0					5																	145640406		1568	3582	5150	RBM27	SO:0001583	missense	0			-	HGNC	AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.1838A>G	5.37:g.145640406A>G	ENSP00000265271:p.Asn613Ser	Somatic	0	91	0.00		0.36651032841881637	4	76.47	13	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	45	27.42	Q8IYW9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.N613S	ENST00000265271.5	37	c.1838	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	A	28.6	4.930378	0.92389	.	.	ENSG00000091009	ENST00000265271	T	0.50001	0.76	6.17	6.17	0.99709	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.46614	1.455	0.80722	D	1	D;D	0.63880	0.993;0.993	D;D	0.72625	0.956;0.978	T	0.58775	-0.7577	10	0.36615	T	0.2	-14.8407	16.8222	0.85835	1.0:0.0:0.0:0.0	.	613;558	Q9P2N5;B3KY61	RBM27_HUMAN;.	S	613	ENSP00000265271:N613S	ENSP00000265271:N613S	N	+	2	0	RBM27	145620599	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.810000	0.75216	2.371000	0.80710	0.533000	0.62120	AAC	-	smart_RRM_dom,pfscan_RRM_dom		0.358	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	protein_coding	OTTHUMT00000373420.1	A	XM_291128	-		145640406	+1	no_errors	ENST00000265271	ensembl	human	known	74_37	missense	SNP	1.000	G
SLC12A4	6560	genome.wustl.edu	37	16	67986113	67986113	+	Missense_Mutation	SNP	C	C	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr16:67986113C>G	ENST00000316341.3	-	7	1031	c.891G>C	c.(889-891)aaG>aaC	p.K297N	SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000572037.1_Missense_Mutation_p.K249N|SLC12A4_ENST00000338335.3_Missense_Mutation_p.K297N|SLC12A4_ENST00000537830.2_Missense_Mutation_p.K291N|SLC12A4_ENST00000576616.1_Missense_Mutation_p.K297N|SLC12A4_ENST00000422611.2_Missense_Mutation_p.K299N|SLC12A4_ENST00000541864.2_Missense_Mutation_p.K266N	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	297					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAAATATAGACTTTATGCCCC	0.498																																																	0								ENSG00000124067						98.0	98.0	98.0					16																	67986113		2198	4300	6498	SLC12A4	SO:0001583	missense	0			-	HGNC		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.891G>C	16.37:g.67986113C>G	ENSP00000318557:p.Lys297Asn	Somatic	0	53	0.00		0.36651032841881637	22	24.14	7	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.K299N	ENST00000316341.3	37	c.897	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291474	0.59976	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98684	-5.07;-5.07;-5.07;-5.07;-5.07	4.94	3.96	0.45880	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98538	0.9512	M	0.82323	2.585	0.58432	D	0.999997	B;B;D;B;B;B	0.59357	0.018;0.08;0.985;0.138;0.039;0.08	B;B;P;B;B;B	0.60415	0.012;0.081;0.874;0.049;0.021;0.055	D	0.97754	1.0216	10	0.15066	T	0.55	.	10.5908	0.45308	0.0:0.8457:0.0:0.1543	.	299;297;266;291;297;297	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	N	299;266;291;297;297	ENSP00000395983:K299N;ENSP00000438334:K266N;ENSP00000445962:K291N;ENSP00000343374:K297N;ENSP00000318557:K297N	ENSP00000318557:K297N	K	-	3	2	SLC12A4	66543614	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.288000	0.33296	2.463000	0.83235	0.585000	0.79938	AAG	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS		0.498	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	protein_coding	OTTHUMT00000268864.4	C	NM_005072	-		67986113	-1	no_errors	ENST00000422611	ensembl	human	known	74_37	missense	SNP	1.000	G
LDLRAP1	26119	genome.wustl.edu	37	1	25894558	25894558	+	3'UTR	SNP	C	C	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:25894558C>G	ENST00000374338.4	+	0	2121				LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1						amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TCACGCAACTCACACCTCCTT	0.483																																																	0								ENSG00000157978																																			LDLRAP1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.*1075C>G	1.37:g.25894558C>G		Somatic	0	108	0.00		0.36651032841881637	68	37.04	40	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	80	25.23	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000374338.4	37	NULL	CCDS30639.1	1																																																																																			-	-		0.483	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	protein_coding	OTTHUMT00000019350.3	C	NM_015627	-		25894558	+1	no_errors	ENST00000488127	ensembl	human	known	74_37	rna	SNP	0.000	G
GRM3	2913	genome.wustl.edu	37	7	86415654	86415654	+	Silent	SNP	G	G	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr7:86415654G>A	ENST00000361669.2	+	3	1645	c.546G>A	c.(544-546)tcG>tcA	p.S182S	GRM3_ENST00000439827.1_Silent_p.S182S|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Silent_p.S180S|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Silent_p.S54S	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	182					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GTGATAAGTCGCGCTATGATT	0.567																																					GBM(52;969 1098 3139 52280)												0								ENSG00000198822						134.0	130.0	131.0					7																	86415654		2203	4300	6503	GRM3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.546G>A	7.37:g.86415654G>A		Somatic	0	71	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	72	11.11	Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.S182	ENST00000361669.2	37	c.546	CCDS5600.1	7																																																																																			-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3		0.567	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	protein_coding	OTTHUMT00000253362.2	G		-		86415654	+1	no_errors	ENST00000361669	ensembl	human	known	74_37	silent	SNP	0.026	A
ZFX	7543	genome.wustl.edu	37	X	24197842	24197842	+	Missense_Mutation	SNP	C	C	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:24197842C>A	ENST00000379177.1	+	6	1028	c.601C>A	c.(601-603)Cag>Aag	p.Q201K	ZFX_ENST00000539115.1_Intron|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.Q240K|ZFX_ENST00000304543.5_Missense_Mutation_p.Q201K|ZFX_ENST00000338565.3_Missense_Mutation_p.Q201K|ZFX_ENST00000379188.3_Missense_Mutation_p.Q201K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	201					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGTGGACCAGCAGGATGATGA	0.468																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0								ENSG00000005889						152.0	145.0	147.0					X																	24197842		2203	4300	6503	ZFX	SO:0001583	missense	0			-	HGNC		CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.601C>A	X.37:g.24197842C>A	ENSP00000368475:p.Gln201Lys	Somatic	0	43	0.00		0.36651032841881637	3	25.00	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	35	22.22	B9EG97|O43668|Q8WYJ8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q240K	ENST00000379177.1	37	c.718	CCDS14211.1	X	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842957	0.32606	.	.	ENSG00000005889	ENST00000379188;ENST00000536464;ENST00000379177;ENST00000304543;ENST00000540034;ENST00000338565	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.52	5.52	0.82312	Transcriptional activator, Zfx / Zfy domain (1);	0.214441	0.32473	N	0.006053	T	0.34308	0.0893	L	0.46157	1.445	0.80722	D	1	B;P;B;P	0.38827	0.12;0.649;0.007;0.507	B;B;B;B	0.36567	0.076;0.228;0.016;0.119	T	0.12142	-1.0559	9	.	.	.	-0.4742	10.0257	0.42070	0.153:0.702:0.145:0.0	.	240;201;201;205	B9EG97;F5H6Z8;P17010;Q59EB9	.;.;ZFX_HUMAN;.	K	201;201;201;201;240;201	ENSP00000368486:Q201K;ENSP00000368475:Q201K;ENSP00000304985:Q201K;ENSP00000441382:Q240K;ENSP00000343384:Q201K	.	Q	+	1	0	ZFX	24107763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.471000	0.45127	2.320000	0.78422	0.600000	0.82982	CAG	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.468	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	protein_coding	OTTHUMT00000056084.1	C	NM_003410	-		24197842	+1	no_errors	ENST00000540034	ensembl	human	known	74_37	missense	SNP	1.000	A
MEFV	4210	genome.wustl.edu	37	16	3293509	3293509	+	Missense_Mutation	SNP	C	C	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr16:3293509C>T	ENST00000219596.1	-	10	2017	c.1978G>A	c.(1978-1980)Gga>Aga	p.G660R	MEFV_ENST00000339854.4_Missense_Mutation_p.G480R|MEFV_ENST00000536379.1_Missense_Mutation_p.G449R|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	660	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)	p.G660*(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						GTCTTGTCTCCAACCTCCACC	0.542																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000103313						114.0	110.0	111.0					16																	3293509		2197	4300	6497	MEFV	SO:0001583	missense	0			-	HGNC	AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1978G>A	16.37:g.3293509C>T	ENSP00000219596:p.Gly660Arg	Somatic	0	43	0.00		0.36651032841881637	7	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.G660R	ENST00000219596.1	37	c.1978	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	12.17	1.858895	0.32884	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000536379	T;T;T	0.63096	-0.02;-0.02;-0.02	5.18	3.23	0.37069	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.538685	0.17060	N	0.188581	T	0.77089	0.4079	M	0.81942	2.565	0.09310	N	1	D	0.76494	0.999	D	0.69824	0.966	T	0.66838	-0.5822	10	0.87932	D	0	-40.5261	10.0663	0.42306	0.0:0.8336:0.0:0.1664	.	660	O15553	MEFV_HUMAN	R	660;660;480;449	ENSP00000219596:G660R;ENSP00000339639:G480R;ENSP00000445079:G449R	ENSP00000219596:G660R	G	-	1	0	MEFV	3233510	0.037000	0.19845	0.852000	0.33557	0.552000	0.35366	1.067000	0.30616	0.691000	0.31592	-0.133000	0.14855	GGA	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.542	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	protein_coding	OTTHUMT00000251464.1	C	NM_000243	-		3293509	-1	no_errors	ENST00000219596	ensembl	human	known	74_37	missense	SNP	0.163	T
IL23R	149233	genome.wustl.edu	37	1	67724171	67724171	+	Missense_Mutation	SNP	A	A	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:67724171A>G	ENST00000347310.5	+	11	1421	c.1250A>G	c.(1249-1251)gAa>gGa	p.E417G	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.E162G	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	417					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						GAAAATAGTGAACTTATGAAT	0.323																																																	0								ENSG00000162594						84.0	101.0	96.0					1																	67724171		2197	4299	6496	IL23R	SO:0001583	missense	0			-	HGNC	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1250A>G	1.37:g.67724171A>G	ENSP00000321345:p.Glu417Gly	Somatic	0	62	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	64	18.99	C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.E417G	ENST00000347310.5	37	c.1250	CCDS637.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.71|12.71	2.019593|2.019593	0.35606|0.35606	.|.	.|.	ENSG00000162594|ENSG00000162594	ENST00000347310;ENST00000431791;ENST00000441823;ENST00000395227|ENST00000425614	T;T|.	0.42131|.	0.98;1.16|.	6.07|6.07	3.73|3.73	0.42828|0.42828	.|.	0.394223|.	0.24154|.	N|.	0.041056|.	T|T	0.25419|0.25419	0.0618|0.0618	M|M	0.64997|0.64997	1.995|1.995	0.09310|0.09310	N|N	1|1	B;B;B;B;B;B;B|.	0.23249|.	0.047;0.021;0.082;0.047;0.047;0.047;0.037|.	B;B;B;B;B;B;B|.	0.25140|.	0.039;0.016;0.058;0.039;0.039;0.039;0.039|.	T|T	0.29731|0.29731	-1.0002|-1.0002	10|5	0.54805|.	T|.	0.06|.	.|.	5.1728|5.1728	0.15120|0.15120	0.7523:0.0:0.0842:0.1635|0.7523:0.0:0.0842:0.1635	.|.	163;241;52;175;15;162;417|.	Q5VWK5-2;B6HY71;Q5VWK5-5;E9PHX4;Q5VWK5-7;Q5VWK5-6;Q5VWK5|.	.;.;.;.;.;.;IL23R_HUMAN|.	G|D	417;246;175;162|179	ENSP00000321345:E417G;ENSP00000378652:E162G|.	ENSP00000321345:E417G|.	E|N	+|+	2|1	0|0	IL23R|IL23R	67496759|67496759	0.958000|0.958000	0.32768|0.32768	0.115000|0.115000	0.21578|0.21578	0.040000|0.040000	0.13550|0.13550	1.996000|1.996000	0.40776|0.40776	0.509000|0.509000	0.28195|0.28195	0.533000|0.533000	0.62120|0.62120	GAA|AAC	-	NULL		0.323	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23R	protein_coding	OTTHUMT00000025199.2	A	NM_144701	-		67724171	+1	no_errors	ENST00000347310	ensembl	human	known	74_37	missense	SNP	0.194	G
KIF6	221458	genome.wustl.edu	37	6	39328280	39328280	+	Missense_Mutation	SNP	T	T	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr6:39328280T>G	ENST00000287152.7	-	18	2067	c.1973A>C	c.(1972-1974)aAa>aCa	p.K658T	KIF6_ENST00000541946.1_Missense_Mutation_p.K109T|KIF6_ENST00000373213.4_Missense_Mutation_p.K497T|KIF6_ENST00000538893.1_Missense_Mutation_p.K602T|KIF6_ENST00000229913.5_Missense_Mutation_p.K109T|KIF6_ENST00000394362.1_Missense_Mutation_p.K109T|KIF6_ENST00000373215.3_Missense_Mutation_p.K641T|KIF6_ENST00000373216.3_Missense_Mutation_p.K658T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	658					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTTCAGGGCTTTCAGGCGAGT	0.527																																																	0								ENSG00000164627						99.0	88.0	92.0					6																	39328280		2203	4300	6503	KIF6	SO:0001583	missense	0			-	HGNC	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1973A>C	6.37:g.39328280T>G	ENSP00000287152:p.Lys658Thr	Somatic	0	55	0.00		0.36651032841881637	1	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K658T	ENST00000287152.7	37	c.1973	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.4|22.4	4.279679|4.279679	0.80692|0.80692	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000458470|ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946;ENST00000540362	T|T;T;T;T;T;T;T;T	0.43688|0.46063	0.94|0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	4.47|4.47	4.47|4.47	0.54385|0.54385	.|.	.|.	.|.	.|.	.|.	T|T	0.54431|0.54431	0.1858|0.1858	M|M	0.71036|0.71036	2.16|2.16	0.52501|0.52501	D|D	0.999951|0.999951	.|D;D;D;D	.|0.89917	.|1.0;0.994;0.996;1.0	.|D;P;D;D	.|0.83275	.|0.993;0.891;0.923;0.996	T|T	0.60984|0.60984	-0.7154|-0.7154	7|9	0.56958|0.66056	D|D	0.05|0.02	.|.	13.7038|13.7038	0.62624|0.62624	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|641;602;658;658	.|E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9	.|.;.;.;KIF6_HUMAN	Q|T	550|658;109;658;497;109;641;602;109;109	ENSP00000409417:K550Q|ENSP00000287152:K658T;ENSP00000377889:K109T;ENSP00000362312:K658T;ENSP00000362309:K497T;ENSP00000229913:K109T;ENSP00000362311:K641T;ENSP00000441435:K602T;ENSP00000439064:K109T	ENSP00000409417:K550Q|ENSP00000229913:K109T	K|K	-|-	1|2	0|0	KIF6|KIF6	39436258|39436258	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.993000|0.993000	0.82548|0.82548	6.575000|6.575000	0.74018|0.74018	1.796000|1.796000	0.52611|0.52611	0.379000|0.379000	0.24179|0.24179	AAG|AAA	-	NULL		0.527	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	protein_coding	OTTHUMT00000040455.2	T	NM_145027	-		39328280	-1	no_errors	ENST00000287152	ensembl	human	known	74_37	missense	SNP	1.000	G
ZNF677	342926	genome.wustl.edu	37	19	53741760	53741760	+	Missense_Mutation	SNP	T	T	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:53741760T>C	ENST00000598513.1	-	5	370	c.220A>G	c.(220-222)Aaa>Gaa	p.K74E	CTD-2245F17.6_ENST00000596041.1_RNA|ZNF677_ENST00000333952.4_Missense_Mutation_p.K74E	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	74	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		AATTCCTCTTTATTATTTTCC	0.343																																																	0								ENSG00000197928						43.0	43.0	43.0					19																	53741760		2200	4269	6469	ZNF677	SO:0001583	missense	0			-	HGNC	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.220A>G	19.37:g.53741760T>C	ENSP00000469391:p.Lys74Glu	Somatic	0	33	0.00		0.36651032841881637	10	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K74E	ENST00000598513.1	37	c.220	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	T	11.83	1.754721	0.31046	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.07327	3.2	2.29	1.23	0.21249	Krueppel-associated box (1);	0.275854	0.20181	N	0.097528	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.14023	0.01	T	0.45818	-0.9235	10	0.06891	T	0.86	.	5.0722	0.14613	0.4957:0.0:0.0:0.5042	.	74	Q86XU0	ZN677_HUMAN	E	74	ENSP00000334394:K74E	ENSP00000334394:K74E	K	-	1	0	ZNF677	58433572	0.000000	0.05858	0.058000	0.19502	0.046000	0.14306	-0.886000	0.04157	0.294000	0.22547	0.533000	0.62120	AAA	-	pfscan_Krueppel-associated_box		0.343	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	protein_coding	OTTHUMT00000464189.1	T	NM_182609	-		53741760	-1	no_errors	ENST00000333952	ensembl	human	known	74_37	missense	SNP	0.012	C
CFTR	1080	genome.wustl.edu	37	7	117246748	117246748	+	Missense_Mutation	SNP	T	T	A	rs137975784		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr7:117246748T>A	ENST00000003084.6	+	18	3061	c.2929T>A	c.(2929-2931)Tcc>Acc	p.S977T	CFTR_ENST00000454343.1_Missense_Mutation_p.S916T|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	977	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TAATAGATTCTCCAAAGATAT	0.284									Cystic Fibrosis																																								0			GRCh37	CM960285	CFTR	M	rs137975784	ENSG00000001626						134.0	140.0	138.0					7																	117246748		2203	4292	6495	CFTR	SO:0001583	missense	0	Familial Cancer Database	CF	-	HGNC	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2929T>A	7.37:g.117246748T>A	ENSP00000003084:p.Ser977Thr	Somatic	0	66	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	43	12.24	Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.S977T	ENST00000003084.6	37	c.2929	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	T	10.95	1.496481	0.26861	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.88431	-2.38;-2.38;-2.38	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.048752	0.85682	D	0.000000	D	0.86024	0.5834	L	0.48362	1.52	0.51012	D	0.999906	B	0.06786	0.001	B	0.15052	0.012	T	0.82143	-0.0603	10	0.44086	T	0.13	-14.9531	15.7338	0.77827	0.0:0.0:0.0:1.0	.	977	P13569	CFTR_HUMAN	T	977;916;947	ENSP00000003084:S977T;ENSP00000403677:S916T;ENSP00000389119:S947T	ENSP00000003084:S977T	S	+	1	0	CFTR	117033984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.864000	0.56024	2.185000	0.69588	0.528000	0.53228	TCC	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_cAMP_cl_channel		0.284	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	protein_coding	OTTHUMT00000059397.3	T	NM_000492	-		117246748	+1	no_errors	ENST00000003084	ensembl	human	known	74_37	missense	SNP	1.000	A
PRICKLE3	4007	genome.wustl.edu	37	X	49040116	49040117	+	Intron	DEL	GT	GT	-			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:49040116_49040117delGT	ENST00000376317.3	-	3	407				PRICKLE3_ENST00000536904.1_Frame_Shift_Del_p.T60fs|PRICKLE3_ENST00000538114.1_Frame_Shift_Del_p.T128fs|PRICKLE3_ENST00000376310.3_Intron|PRICKLE3_ENST00000540849.1_Intron	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)								zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						TCCCACCTGAGTGTGTGTGTGT	0.604																																																	0								ENSG00000012211																																			PRICKLE3	SO:0001627	intron_variant	0				HGNC	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.312+69AC>-	X.37:g.49040126_49040127delGT		Somatic	0	27	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B7Z8F2|O76007|Q53XR5	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Znf_LIM,pfam_PET_domain,smart_Znf_LIM,pfscan_Znf_LIM	p.T60fs	ENST00000376317.3	37	c.179_178	CCDS14320.1	X																																																																																			-	NULL		0.604	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRICKLE3	protein_coding	OTTHUMT00000060811.1	GT	NM_006150			49040117	-1	no_errors	ENST00000536904	ensembl	human	known	74_37	frame_shift_del	DEL	0.149:0.119	-
RECQL	5965	genome.wustl.edu	37	12	21644546	21644547	+	Frame_Shift_Ins	INS	-	-	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr12:21644546_21644547insT	ENST00000444129.2	-	3	588_589	c.120_121insA	c.(118-123)aaagtcfs	p.V41fs	RECQL_ENST00000421138.2_Frame_Shift_Ins_p.V41fs	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	41					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.V41fs*2(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGTCAGGACTTTTTTTTTCT	0.381								Other identified genes with known or suspected DNA repair function																																									1	Deletion - Frameshift(1)	large_intestine(1)						ENSG00000004700		,	10,4254		0,10,2122					,	3.3	0.2			53	10,8244		0,10,4117	no	frameshift,frameshift	RECQL	NM_032941.2,NM_002907.3	,	0,20,6239	A1A1,A1R,RR		0.1212,0.2345,0.1598	,	,		20,12498				RECQL	SO:0001589	frameshift_variant	0				HGNC	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.121dupA	12.37:g.21644555_21644555dupT	ENSP00000416739:p.Val41fs	Somatic	0	33	0.00		0.36651032841881637	41	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	A8K6G2	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.V40fs	ENST00000444129.2	37	c.121_120	CCDS31756.1	12																																																																																			-	NULL		0.381	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	protein_coding	OTTHUMT00000402371.1	-	NM_002907			21644547	-1	no_errors	ENST00000421138	ensembl	human	known	74_37	frame_shift_ins	INS	0.028:0.001	T
PEG3	5178	genome.wustl.edu	37	19	57335692	57335692	+	Missense_Mutation	SNP	G	G	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:57335692G>A	ENST00000326441.9	-	4	695	c.332C>T	c.(331-333)cCg>cTg	p.P111L	ZIM2_ENST00000593711.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR|PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000593931.1_5'Flank|PEG3_ENST00000423103.2_Missense_Mutation_p.P111L|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|PEG3_ENST00000593695.1_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	111	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACAGTTCTCCGGCTTTTTTGC	0.542																																																	0								ENSG00000198300						100.0	93.0	96.0					19																	57335692		2203	4300	6503	PEG3	SO:0001583	missense	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.332C>T	19.37:g.57335692G>A	ENSP00000326581:p.Pro111Leu	Somatic	0	70	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	60	10.45	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.P111L	ENST00000326441.9	37	c.332	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907830	0.72868	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.07800	3.16;3.16	5.04	5.04	0.67666	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.40728	N	0.001021	T	0.16041	0.0386	L	0.46670	1.46	.	.	.	D;D	0.69078	0.994;0.997	P;P	0.56163	0.793;0.793	T	0.08046	-1.0741	9	0.23891	T	0.37	-16.9457	14.6138	0.68534	0.0:0.0:1.0:0.0	.	111;44	Q9GZU2;Q96Q96	PEG3_HUMAN;.	L	111	ENSP00000326581:P111L;ENSP00000403051:P111L	ENSP00000292074:P111L	P	-	2	0	ZIM2	62027504	0.698000	0.27777	0.287000	0.24848	0.895000	0.52256	2.416000	0.44644	2.734000	0.93682	0.650000	0.86243	CCG	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.542	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	G		-		57335692	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	SNP	0.369	A
TRIM40	135644	genome.wustl.edu	37	6	30114784	30114784	+	Missense_Mutation	SNP	A	A	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr6:30114784A>G	ENST00000396581.1	+	4	850	c.464A>G	c.(463-465)cAc>cGc	p.H155R	TRIM40_ENST00000376724.2_Missense_Mutation_p.H155R|TRIM40_ENST00000307859.4_Intron			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	155					negative regulation of cell growth (GO:0030308)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein localization to nucleus (GO:1900181)|protein neddylation (GO:0045116)	IkappaB kinase complex (GO:0008385)	zinc ion binding (GO:0008270)			ovary(1)	1						CACGGGAACCACAGGCTGGAG	0.612																																																	0								ENSG00000204614																																			TRIM40	SO:0001583	missense	0			-	HGNC	AF489517	CCDS4675.1, CCDS69069.1	6p21.31	2013-01-09	2011-01-25		ENSG00000204614	ENSG00000204614		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18736	protein-coding gene	gene with protein product			"""tripartite motif-containing 40"""				Standard	NM_138700		Approved	RNF35	uc003npm.2	Q6P9F5	OTTHUMG00000031083	ENST00000396581.1:c.464A>G	6.37:g.30114784A>G	ENSP00000379826:p.His155Arg	Somatic	0	64	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	58	18.31	Q5SRJ6|Q5SS36|Q8TD96	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.H155R	ENST00000396581.1	37	c.464		6	.	.	.	.	.	.	.	.	.	.	A	13.89	2.370829	0.42003	.	.	ENSG00000204614	ENST00000396581;ENST00000376724	T;T	0.61510	0.1;0.1	4.47	0.607	0.17564	.	0.875162	0.09794	N	0.754954	T	0.15522	0.0374	.	.	.	0.09310	N	1	B	0.33694	0.421	B	0.32289	0.143	T	0.16600	-1.0397	9	0.23302	T	0.38	.	2.9688	0.05916	0.6158:0.0:0.203:0.1812	.	155	Q6P9F5	TRI40_HUMAN	R	155	ENSP00000379826:H155R;ENSP00000365914:H155R	ENSP00000365914:H155R	H	+	2	0	TRIM40	30222763	0.001000	0.12720	0.000000	0.03702	0.735000	0.41995	1.010000	0.29898	0.019000	0.15079	-0.395000	0.06472	CAC	-	NULL		0.612	TRIM40-001	KNOWN	basic	protein_coding	TRIM40	protein_coding	OTTHUMT00000076117.2	A		-		30114784	+1	no_errors	ENST00000376724	ensembl	human	known	74_37	missense	SNP	0.000	G
RPH3A	22895	genome.wustl.edu	37	12	113306340	113306340	+	Missense_Mutation	SNP	C	C	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr12:113306340C>T	ENST00000389385.4	+	8	1047	c.550C>T	c.(550-552)Cct>Tct	p.P184S	RPH3A_ENST00000420983.2_Missense_Mutation_p.P184S|RPH3A_ENST00000543106.2_Missense_Mutation_p.P184S|RPH3A_ENST00000551052.1_Missense_Mutation_p.P180S|RPH3A_ENST00000415485.3_Missense_Mutation_p.P184S|RPH3A_ENST00000548866.1_Missense_Mutation_p.P135S|RPH3A_ENST00000447659.2_Missense_Mutation_p.P135S|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	184	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGTCAGTGAGCCTGCTGCCCC	0.582																																																	0								ENSG00000089169						46.0	46.0	46.0					12																	113306340		2203	4300	6503	RPH3A	SO:0001583	missense	0			-	HGNC	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.550C>T	12.37:g.113306340C>T	ENSP00000374036:p.Pro184Ser	Somatic	0	59	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	B7Z3C3|Q96AE0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.P184S	ENST00000389385.4	37	c.550	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	11.53	1.667126	0.29604	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.61859	0.08;0.08;0.07;0.08;0.08;0.07;0.08	5.05	4.15	0.48705	.	0.119542	0.37906	N	0.001891	T	0.40322	0.1112	N	0.24115	0.695	0.34303	D	0.684551	B;B;B;B	0.26081	0.018;0.087;0.087;0.141	B;B;B;B	0.26202	0.007;0.03;0.03;0.067	T	0.48387	-0.9040	10	0.29301	T	0.29	.	8.8341	0.35102	0.0:0.8252:0.0:0.1748	.	135;184;184;180	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	S	184;184;135;180;184;135;184	ENSP00000440384:P184S;ENSP00000374036:P184S;ENSP00000413254:P135S;ENSP00000448297:P180S;ENSP00000405357:P184S;ENSP00000450347:P135S;ENSP00000408889:P184S	ENSP00000374036:P184S	P	+	1	0	RPH3A	111790723	1.000000	0.71417	0.792000	0.32020	0.181000	0.23173	1.626000	0.37039	1.126000	0.42016	0.655000	0.94253	CCT	-	NULL		0.582	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	protein_coding	OTTHUMT00000405561.1	C	NM_014954	-		113306340	+1	no_errors	ENST00000389385	ensembl	human	known	74_37	missense	SNP	0.937	T
TPX2	22974	genome.wustl.edu	37	20	30371630	30371630	+	Missense_Mutation	SNP	G	G	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr20:30371630G>T	ENST00000300403.6	+	12	1847	c.1319G>T	c.(1318-1320)aGa>aTa	p.R440I	TPX2_ENST00000340513.4_Missense_Mutation_p.R476I	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	440					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATTGAGAAAAGAATCCAGGAG	0.438																																																	0								ENSG00000088325						120.0	120.0	120.0					20																	30371630		2203	4300	6503	TPX2	SO:0001583	missense	0			-	HGNC	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1319G>T	20.37:g.30371630G>T	ENSP00000300403:p.Arg440Ile	Somatic	0	129	0.00		0.36651032841881637	222	23.45	68	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	106	12.40	Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPX2_central_dom,pfam_Aurora-A-bd,pfam_TPX2_dom_C	p.R476I	ENST00000300403.6	37	c.1427	CCDS13190.1	20	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645135	0.87859	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.46063	0.88	5.7	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77482	-0.2571	10	0.72032	D	0.01	-15.2574	15.6553	0.77129	0.0:0.1374:0.8626:0.0	.	476;440	Q96RR5;Q9ULW0	.;TPX2_HUMAN	I	440;476	ENSP00000341145:R476I	ENSP00000300403:R440I	R	+	2	0	TPX2	29835291	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	8.510000	0.90532	1.366000	0.46076	0.650000	0.86243	AGA	-	pfam_TPX2_central_dom		0.438	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPX2	protein_coding	OTTHUMT00000078569.2	G		-		30371630	+1	no_errors	ENST00000340513	ensembl	human	known	74_37	missense	SNP	1.000	T
FARSA	2193	genome.wustl.edu	37	19	13041116	13041116	+	Missense_Mutation	SNP	G	G	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr19:13041116G>T	ENST00000314606.4	-	4	442	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	FARSA_ENST00000588025.1_Missense_Mutation_p.L182M|FARSA_ENST00000423140.2_Missense_Mutation_p.L142M|CTC-425F1.2_ENST00000592636.1_RNA	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	142					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCCCGGACCAGCTGGAGCCGC	0.652																																																	0								ENSG00000179115						75.0	64.0	68.0					19																	13041116		2203	4300	6503	FARSA	SO:0001583	missense	0			-	HGNC	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.424C>A	19.37:g.13041116G>T	ENSP00000320309:p.Leu142Met	Somatic	0	38	0.00		0.36651032841881637	256	0.39	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu	p.L142M	ENST00000314606.4	37	c.424	CCDS12287.1	19	.	.	.	.	.	.	.	.	.	.	G	12.48	1.949831	0.34377	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.64803	-0.12;0.5	5.66	1.07	0.20283	.	0.235944	0.36066	N	0.002816	T	0.54013	0.1832	M	0.66939	2.045	0.44531	D	0.997487	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.08055	0.003;0.001;0.001	T	0.49466	-0.8937	10	0.46703	T	0.11	-4.4226	6.9893	0.24745	0.2005:0.0:0.6784:0.1211	.	142;142;142	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	M	142	ENSP00000320309:L142M;ENSP00000396548:L142M	ENSP00000320309:L142M	L	-	1	2	FARSA	12902116	1.000000	0.71417	0.450000	0.26969	0.800000	0.45204	1.920000	0.40025	0.342000	0.23796	-0.261000	0.10672	CTG	-	NULL		0.652	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARSA	protein_coding	OTTHUMT00000451935.1	G	NM_004461	-		13041116	-1	no_errors	ENST00000314606	ensembl	human	known	74_37	missense	SNP	0.984	T
SELP	6403	genome.wustl.edu	37	1	169580819	169580819	+	Missense_Mutation	SNP	T	T	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:169580819T>C	ENST00000263686.6	-	7	1095	c.1058A>G	c.(1057-1059)gAg>gGg	p.E353G	SELP_ENST00000367792.2_Intron|SELP_ENST00000458599.2_Intron|SELP_ENST00000367794.2_Intron|SELP_ENST00000367791.2_Intron|SELP_ENST00000367786.2_Intron|SELP_ENST00000367788.2_Missense_Mutation_p.E291G|SELP_ENST00000367793.2_Missense_Mutation_p.E291G	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	353	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GGGCTGGCACTCAAATTTACA	0.557																																																	0								ENSG00000174175						109.0	107.0	108.0					1																	169580819		2203	4300	6503	SELP	SO:0001583	missense	0			-	HGNC	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.1058A>G	1.37:g.169580819T>C	ENSP00000263686:p.Glu353Gly	Somatic	0	99	0.00		0.36651032841881637	2	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	84	13.40	Q5R344|Q8IVD1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily	p.E353G	ENST00000263686.6	37	c.1058	CCDS1282.1	1	.	.	.	.	.	.	.	.	.	.	T	7.638	0.680205	0.14907	.	.	ENSG00000174175	ENST00000367790;ENST00000426706;ENST00000263686;ENST00000544572;ENST00000367793;ENST00000367788	T;T;T	0.66638	-0.22;-0.22;-0.22	5.22	1.55	0.23275	Complement control module (2);Sushi/SCR/CCP (3);	1.039030	0.07562	N	0.917208	T	0.34803	0.0910	L	0.43646	1.37	0.09310	N	1	B;B;P	0.41848	0.425;0.425;0.763	B;B;B	0.37508	0.252;0.182;0.229	T	0.27226	-1.0080	10	0.51188	T	0.08	-0.3812	3.6344	0.08143	0.0:0.28:0.2205:0.4995	.	353;353;353	Q6NUL9;P16109;G3V1U2	.;LYAM3_HUMAN;.	G	353;352;353;353;291;291	ENSP00000263686:E353G;ENSP00000356767:E291G;ENSP00000356762:E291G	ENSP00000263686:E353G	E	-	2	0	SELP	167847443	0.000000	0.05858	0.334000	0.25495	0.212000	0.24457	-0.096000	0.11059	0.844000	0.35094	0.533000	0.62120	GAG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.557	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SELP	protein_coding	OTTHUMT00000083916.4	T	NM_003005	-		169580819	-1	no_errors	ENST00000263686	ensembl	human	known	74_37	missense	SNP	0.010	C
TNS1	7145	genome.wustl.edu	37	2	218712887	218712889	+	In_Frame_Del	DEL	GCT	GCT	-	rs375721540|rs574153391		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	GCT	GCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr2:218712887_218712889delGCT	ENST00000171887.4	-	17	2428_2430	c.1976_1978delAGC	c.(1975-1980)cagcct>cct	p.Q659del	TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000430930.1_In_Frame_Del_p.Q659del|TNS1_ENST00000419504.1_In_Frame_Del_p.Q659del	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	659	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGTGGGCGAGgctgctgctgctg	0.66																																																	0								ENSG00000079308																																			TNS1	SO:0001651	inframe_deletion	0				HGNC	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1976_1978delAGC	2.37:g.218712896_218712898delGCT	ENSP00000171887:p.Gln659del	Somatic	0	45	0.00		0.36651032841881637	7	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q4ZG71|Q6IPI5	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.Q659in_frame_del	ENST00000171887.4	37	c.1978_1976	CCDS2407.1	2																																																																																			-	NULL		0.660	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	protein_coding	OTTHUMT00000256672.2	GCT	NM_022648			218712889	-1	no_errors	ENST00000171887	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.994	-
CSF2RA	1438	genome.wustl.edu	37	X	1419414	1419414	+	Missense_Mutation	SNP	T	T	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chrX:1419414T>C	ENST00000381524.3	+	10	1027	c.841T>C	c.(841-843)Tac>Cac	p.Y281H	CSF2RA_ENST00000417535.2_Missense_Mutation_p.Y281H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.Y281H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.Y281H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.Y281H|RNA5SP498_ENST00000411342.1_RNA|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.Y148H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.Y281H|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355432.3_Missense_Mutation_p.Y281H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.Y281H|CSF2RA_ENST00000494969.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	281	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGAAAATAGATACAACTTTCC	0.433																																					Esophageal Squamous(131;723 1707 25334 40494 41806)												0								ENSG00000198223						119.0	121.0	120.0					X																	1419414		2203	4296	6499	CSF2RA	SO:0001583	missense	0			-	HGNC	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.841T>C	X.37:g.1419414T>C	ENSP00000370935:p.Tyr281His	Somatic	0	339	0.00		0.36651032841881637	21	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	236	9.23	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.Y281H	ENST00000381524.3	37	c.841	CCDS35191.1	X	.	.	.	.	.	.	.	.	.	.	.	5.882	0.346959	0.11126	.	.	ENSG00000198223	ENST00000381529;ENST00000432318;ENST00000361536;ENST00000501036;ENST00000381524;ENST00000381509;ENST00000355432;ENST00000417535;ENST00000381500	D;D;D;D;D;D;D;D;D	0.86694	-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16;-2.16	0.798	0.798	0.18660	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000117	D	0.85336	0.5673	.	.	.	0.09310	N	1	P;P;P;P;P	0.51653	0.455;0.89;0.947;0.759;0.8	B;B;P;B;B	0.52554	0.232;0.425;0.702;0.256;0.284	T	0.75651	-0.3244	9	0.52906	T	0.07	.	3.8498	0.08949	0.0:0.0:0.0:1.0	.	281;281;281;281;281	P15509-2;A7J003;P15509-3;P15509-5;P15509	.;.;.;.;CSF2R_HUMAN	H	281;281;281;148;281;281;281;281;281	ENSP00000370940:Y281H;ENSP00000416437:Y281H;ENSP00000354836:Y281H;ENSP00000440491:Y148H;ENSP00000370935:Y281H;ENSP00000370920:Y281H;ENSP00000347606:Y281H;ENSP00000394227:Y281H;ENSP00000370911:Y281H	ENSP00000347606:Y281H	Y	+	1	0	CSF2RA	1379414	0.002000	0.14202	0.009000	0.14445	0.177000	0.22998	0.121000	0.15667	0.615000	0.30124	0.084000	0.15446	TAC	-	superfamily_Fibronectin_type3		0.433	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSF2RA	protein_coding	OTTHUMT00000035013.2	T		-		1419414	+1	no_errors	ENST00000417535	ensembl	human	known	74_37	missense	SNP	0.010	C
GRIK1	2897	genome.wustl.edu	37	21	30927609	30927609	+	Missense_Mutation	SNP	C	C	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr21:30927609C>T	ENST00000399907.1	-	16	2782	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	GRIK1_ENST00000309434.7_Missense_Mutation_p.D793N|GRIK1_ENST00000399914.1_Missense_Mutation_p.D776N|GRIK1_ENST00000327783.4_Missense_Mutation_p.D791N|GRIK1_ENST00000389125.3_Missense_Mutation_p.D776N|GRIK1_ENST00000399913.1_Missense_Mutation_p.D791N|GRIK1_ENST00000535441.1_Missense_Mutation_p.D793N|GRIK1_ENST00000389124.2_Missense_Mutation_p.D791N|GRIK1_ENST00000399909.1_Missense_Mutation_p.D776N	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	791					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GTAATTTTATCCCGGTAAGGA	0.408																																																	0								ENSG00000171189						76.0	79.0	78.0					21																	30927609		2203	4299	6502	GRIK1	SO:0001583	missense	0			-	HGNC		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.2371G>A	21.37:g.30927609C>T	ENSP00000382791:p.Asp791Asn	Somatic	0	46	0.00		0.36651032841881637	1	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	Q13001|Q86SU9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D793N	ENST00000399907.1	37	c.2377	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	C	27.9	4.873492	0.91664	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69	4.78	4.78	0.61160	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.33440	0.0863	M	0.80616	2.505	0.80722	D	1	P;P;P;P	0.52316	0.905;0.952;0.944;0.941	P;P;P;P	0.55713	0.782;0.685;0.782;0.558	T	0.05767	-1.0865	10	0.25751	T	0.34	.	17.9518	0.89056	0.0:1.0:0.0:0.0	.	776;791;791;776	E7EPY9;E9PD61;P39086;P39086-2	.;.;GRIK1_HUMAN;.	N	791;776;791;776;793;652;791;791;776;793	ENSP00000327687:D791N;ENSP00000373777:D776N;ENSP00000382797:D791N;ENSP00000382798:D776N;ENSP00000446326:D793N;ENSP00000373776:D791N;ENSP00000382791:D791N;ENSP00000382793:D776N;ENSP00000311646:D793N	ENSP00000311646:D793N	D	-	1	0	GRIK1	29849480	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.548000	0.82154	2.629000	0.89072	0.650000	0.86243	GAT	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.408	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	protein_coding	OTTHUMT00000171979.1	C		-		30927609	-1	no_errors	ENST00000535441	ensembl	human	known	74_37	missense	SNP	1.000	T
PIK3AP1	118788	genome.wustl.edu	37	10	98386535	98386535	+	Silent	SNP	T	T	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr10:98386535T>A	ENST00000339364.5	-	10	1718	c.1599A>T	c.(1597-1599)ccA>ccT	p.P533P	PIK3AP1_ENST00000371109.3_Silent_p.P132P|PIK3AP1_ENST00000468783.1_5'Flank|PIK3AP1_ENST00000371110.2_Silent_p.P355P	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	533					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCTGGGCACTGGGACAGGGG	0.532																																																	0								ENSG00000155629						115.0	106.0	109.0					10																	98386535		2203	4300	6503	PIK3AP1	SO:0001819	synonymous_variant	0			-	HGNC	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1599A>T	10.37:g.98386535T>A		Somatic	0	76	0.00		0.36651032841881637	9	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	68	9.33	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_Ankyrin_rpt-contain_dom	p.P533	ENST00000339364.5	37	c.1599	CCDS31259.1	10																																																																																			-	NULL		0.532	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	protein_coding	OTTHUMT00000049619.2	T	NM_152309	-		98386535	-1	no_errors	ENST00000339364	ensembl	human	known	74_37	silent	SNP	0.425	A
SLC4A3	6508	genome.wustl.edu	37	2	220500504	220500504	+	Silent	SNP	G	G	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr2:220500504G>T	ENST00000358055.3	+	14	2594	c.2082G>T	c.(2080-2082)ccG>ccT	p.P694P	SLC4A3_ENST00000373760.2_Silent_p.P694P|SLC4A3_ENST00000373762.3_Silent_p.P721P|SLC4A3_ENST00000317151.3_Silent_p.P694P|SLC4A3_ENST00000273063.6_Silent_p.P721P			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	694					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGGTACCCGCACTACCCCA	0.642																																																	0								ENSG00000114923						35.0	35.0	35.0					2																	220500504		2203	4300	6503	SLC4A3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2082G>T	2.37:g.220500504G>T		Somatic	0	74	0.00		0.36651032841881637	4	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.16	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.P721	ENST00000358055.3	37	c.2163	CCDS2445.1	2																																																																																			-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.642	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	protein_coding	OTTHUMT00000316472.1	G	NM_005070	-		220500504	+1	no_errors	ENST00000273063	ensembl	human	known	74_37	silent	SNP	0.021	T
C17orf82	388407	genome.wustl.edu	37	17	59489871	59489877	+	Frame_Shift_Del	DEL	GGCCTCG	GGCCTCG	-	rs201168857	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	GGCCTCG	GGCCTCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr17:59489871_59489877delGGCCTCG	ENST00000335108.2	+	1	760_766	c.535_541delGGCCTCG	c.(535-543)ggcctcgggfs	p.GLG179fs	RP11-332H18.4_ENST00000592009.1_RNA	NM_203425.1	NP_982249	Q86X59	CQ082_HUMAN	chromosome 17 open reading frame 82	179										cervix(1)|lung(1)	2						AGCCCGCCCAGGCCTCGGGCCTCGGCA	0.734														18	0.00359425	0.0	0.0072	5008	,	,		13586	0.0		0.0099	False		,,,				2504	0.0031																0								ENSG00000187013			15,3697		5,5,1846						-5.8	0.0			6	89,7483		12,65,3709	no	frameshift	C17orf82	NM_203425.1		17,70,5555	A1A1,A1R,RR		1.1754,0.4041,0.9217				104,11180				C17orf82	SO:0001589	frameshift_variant	0				HGNC	BC046200	CCDS11628.1	17q23.2	2012-10-23			ENSG00000187013	ENSG00000187013			32699	protein-coding gene	gene with protein product							Standard	NM_203425		Approved		uc002izh.1	Q86X59	OTTHUMG00000180077	ENST00000335108.2:c.535_541delGGCCTCG	17.37:g.59489878_59489884delGGCCTCG	ENSP00000335229:p.Gly179fs	Somatic	NA	NA	NA		0.36651032841881637	3	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.P182fs	ENST00000335108.2	37	c.535_541	CCDS11628.1	17																																																																																			-	NULL		0.734	C17orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf82	protein_coding	OTTHUMT00000449646.1	GGCCTCG	NM_203425			59489877	+1	no_errors	ENST00000335108	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.001:0.001:0.000:0.000:0.000	-
ARF5	381	genome.wustl.edu	37	7	127231635	127231636	+	3'UTR	INS	-	-	T	rs543667839|rs377612947		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr7:127231635_127231636insT	ENST00000000233.5	+	0	979_980				FSCN3_ENST00000420086.2_5'Flank|GCC1_ENST00000497650.1_Intron|FSCN3_ENST00000478328.1_3'UTR|FSCN3_ENST00000265825.5_5'Flank	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5						GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						TCTGGGTTTCCTTTTTTTTTTC	0.564																																																	0								ENSG00000179562																																			GCC1	SO:0001624	3_prime_UTR_variant	0				HGNC		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.*283->T	7.37:g.127231645_127231645dupT		Somatic	0	30	0.00		0.36651032841881637	1073	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	P26437	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000000233.5	37	NULL	CCDS34745.1	7																																																																																			-	-		0.564	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	protein_coding	OTTHUMT00000059567.2	-	NM_001662			127231636	-1	no_errors	ENST00000473728	ensembl	human	known	74_37	rna	INS	0.929:0.928	T
USP6	9098	genome.wustl.edu	37	17	5058807	5058807	+	Missense_Mutation	SNP	C	C	T	rs148034086		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr17:5058807C>T	ENST00000574788.1	+	31	4964	c.2734C>T	c.(2734-2736)Cgg>Tgg	p.R912W	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Missense_Mutation_p.R595W|USP6_ENST00000250066.6_Missense_Mutation_p.R912W			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	912	USP.		R -> Q (in dbSNP:rs9899177). {ECO:0000269|PubMed:1565468}.		cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGTGCATACCCGGAAGAAAGA	0.483			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																			Dom	yes		17	17p13	9098	ubiquitin specific peptidase 6 (Tre-2 oncogene)		M	0								ENSG00000129204	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	182.0	157.0	165.0		2734	2.9	1.0	17	dbSNP_134	165	0,8600		0,0,4300	no	missense	USP6	NM_004505.2	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	912/1407	5058807	1,13005	2203	4300	6503	USP6	SO:0001583	missense	0			-	HGNC	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2734C>T	17.37:g.5058807C>T	ENSP00000460380:p.Arg912Trp	Somatic	0	119	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	90	11.76	Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67	p.R912W	ENST00000574788.1	37	c.2734	CCDS11069.2	17	.	.	.	.	.	.	.	.	.	.	C	17.15	3.317223	0.60524	2.27E-4	0.0	ENSG00000129204	ENST00000250066;ENST00000304328	T;T	0.14266	2.92;2.52	2.91	2.91	0.33838	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.099183	0.64402	D	0.000002	T	0.29684	0.0741	M	0.68952	2.095	0.37984	D	0.933683	D;D	0.89917	1.0;1.0	D;D	0.75484	0.971;0.986	T	0.10989	-1.0606	10	0.66056	D	0.02	.	7.3281	0.26567	0.2619:0.7381:0.0:0.0	.	595;912	P35125-2;P35125	.;UBP6_HUMAN	W	912;595	ENSP00000250066:R912W;ENSP00000305473:R595W	ENSP00000250066:R912W	R	+	1	2	USP6	4999531	0.999000	0.42202	1.000000	0.80357	0.938000	0.57974	3.542000	0.53625	1.614000	0.50241	0.398000	0.26397	CGG	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.483	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP6	protein_coding	OTTHUMT00000438990.1	C	NM_004505	rs148034086		5058807	+1	no_errors	ENST00000250066	ensembl	human	known	74_37	missense	SNP	1.000	T
MAATS1	89876	genome.wustl.edu	37	3	119462961	119462961	+	Missense_Mutation	SNP	G	G	A	rs556802557		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr3:119462961G>A	ENST00000273390.5	+	14	1897	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q	RP11-169N13.4_ENST00000489428.2_RNA	NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	443						mitochondrion (GO:0005739)											GAGCGCCAGCGGCGGGTACGA	0.587																																																	0								ENSG00000183833						74.0	70.0	71.0					3																	119462961		2203	4300	6503	MAATS1	SO:0001583	missense	0			-	HGNC	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	ENST00000273390.5:c.1820G>A	3.37:g.119462961G>A	ENSP00000273390:p.Arg607Gln	Somatic	0	36	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	20	39.39	A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_S-AdoMet_deCO2ase_core	p.R607Q	ENST00000273390.5	37	c.1820	CCDS2994.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.844809	0.97016	.	.	ENSG00000183833	ENST00000273390	T	0.60040	0.22	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.80829	0.4698	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.83537	0.0094	10	0.87932	D	0	-12.1194	19.7305	0.96180	0.0:0.0:1.0:0.0	.	443;545;607	Q7Z4T9;Q7Z4T9-3;Q7Z4T9-7	AAT1_HUMAN;.;.	Q	607	ENSP00000273390:R607Q	ENSP00000273390:R607Q	R	+	2	0	C3orf15	120945651	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	9.184000	0.94893	2.663000	0.90544	0.484000	0.47621	CGG	-	NULL		0.587	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAATS1	protein_coding	OTTHUMT00000355222.1	G	NM_033364	-		119462961	+1	no_errors	ENST00000273390	ensembl	human	known	74_37	missense	SNP	1.000	A
COL8A2	1296	genome.wustl.edu	37	1	36563894	36563920	+	In_Frame_Del	DEL	CCTGAGGGACCCCTCAGGCCAGGCTGC	CCTGAGGGACCCCTCAGGCCAGGCTGC	-	rs80358191		TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	CCTGAGGGACCCCTCAGGCCAGGCTGC	CCTGAGGGACCCCTCAGGCCAGGCTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:36563894_36563920delCCTGAGGGACCCCTCAGGCCAGGCTGC	ENST00000397799.1	-	4	1586_1612	c.1362_1388delGCAGCCTGGCCTGAGGGGTCCCTCAGG	c.(1360-1389)gggcagcctggcctgaggggtccctcagga>gga	p.454_463GQPGLRGPSG>G	COL8A2_ENST00000303143.4_In_Frame_Del_p.454_463GQPGLRGPSG>G|COL8A2_ENST00000481785.1_In_Frame_Del_p.389_398GQPGLRGPSG>G			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	454	Triple-helical region.		Q -> K (in FECD1 and PPCD2). {ECO:0000269|PubMed:11689488}.		angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|collagen catabolic process (GO:0030574)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCTGGGATTCCTGAGGGACCCCTCAGGCCAGGCTGCCCAGGGAGCC	0.7																																																	0			GRCh37	CM013254|CX086575	COL8A2	M|X	rs80358191	ENSG00000171812																																			COL8A2	SO:0001651	inframe_deletion	0				HGNC	M60832	CCDS403.1, CCDS72756.1	1p34.2-p32.3	2014-02-14			ENSG00000171812	ENSG00000171812		"""Collagens"""	2216	protein-coding gene	gene with protein product		120252		FECD		11689488	Standard	XM_005270477		Approved	PPCD, FECD1, PPCD2	uc001bzv.2	P25067	OTTHUMG00000007665	ENST00000397799.1:c.1362_1388delGCAGCCTGGCCTGAGGGGTCCCTCAGG	1.37:g.36563894_36563920delCCTGAGGGACCCCTCAGGCCAGGCTGC	ENSP00000380901:p.Gly454_Ser462del	Somatic	NA	NA	NA		0.36651032841881637	11	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5JV31|Q8TEJ5	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.QPGLRGPSG455in_frame_del	ENST00000397799.1	37	c.1388_1362	CCDS403.1	1																																																																																			-	pfam_Collagen		0.700	COL8A2-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	COL8A2	protein_coding	OTTHUMT00000313674.1	CCTGAGGGACCCCTCAGGCCAGGCTGC	NM_005202			36563920	-1	no_errors	ENST00000303143	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.941:1.000:1.000:0.996:1.000:1.000:0.958:1.000:1.000:0.986:1.000:0.996:0.997:0.999:0.990:0.626:1.000:1.000:0.941:1.000:1.000:1.000:1.000:1.000:0.998	-
JARID2	3720	genome.wustl.edu	37	6	15497191	15497191	+	Missense_Mutation	SNP	G	G	T			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr6:15497191G>T	ENST00000341776.2	+	7	1979	c.1735G>T	c.(1735-1737)Gct>Tct	p.A579S	JARID2_ENST00000397311.3_Missense_Mutation_p.A407S|JARID2_ENST00000541660.1_Missense_Mutation_p.A541S	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	579	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GTCGGTCCGCGCTCAGGTGGA	0.647																																																	0								ENSG00000008083						61.0	54.0	57.0					6																	15497191		2203	4300	6503	JARID2	SO:0001583	missense	0			-	HGNC	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1735G>T	6.37:g.15497191G>T	ENSP00000341280:p.Ala579Ser	Somatic	1	105	0.94		0.36651032841881637	6	14.29	1	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	48	14.29	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd	p.A579S	ENST00000341776.2	37	c.1735	CCDS4533.1	6	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679954	0.47886	.	.	ENSG00000008083	ENST00000538175;ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.19532	2.14;2.14;2.14	5.23	3.39	0.38822	Transcription factor jumonji, JmjN (3);	0.164146	0.53938	D	0.000052	T	0.06645	0.0170	N	0.16201	0.385	0.37124	D	0.900951	B;B;B	0.28820	0.224;0.064;0.1	B;B;B	0.31869	0.137;0.068;0.107	T	0.12578	-1.0542	10	0.42905	T	0.14	-0.2998	15.5962	0.76583	0.0:0.4104:0.5896:0.0	.	541;443;579	F5H590;B7Z7X9;Q92833	.;.;JARD2_HUMAN	S	443;579;407;541	ENSP00000341280:A579S;ENSP00000380478:A407S;ENSP00000444623:A541S	ENSP00000341280:A579S	A	+	1	0	JARID2	15605170	1.000000	0.71417	0.945000	0.38365	0.994000	0.84299	5.446000	0.66600	0.548000	0.28955	0.511000	0.50034	GCT	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN		0.647	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JARID2	protein_coding	OTTHUMT00000039926.1	G	NM_004973	-		15497191	+1	no_errors	ENST00000341776	ensembl	human	known	74_37	missense	SNP	1.000	T
CLTCL1	8218	genome.wustl.edu	37	22	19208953	19208953	+	Missense_Mutation	SNP	G	G	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr22:19208953G>C	ENST00000263200.10	-	17	2815	c.2743C>G	c.(2743-2745)Cat>Gat	p.H915D	CLTCL1_ENST00000427926.1_Missense_Mutation_p.H915D|CLTCL1_ENST00000353891.5_Missense_Mutation_p.H915D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	915	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CAGGCCAGATGGGGGTCTCGC	0.577			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0								ENSG00000070371						29.0	30.0	30.0					22																	19208953		2064	4221	6285	CLTCL1	SO:0001583	missense	0			-	HGNC		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2743C>G	22.37:g.19208953G>C	ENSP00000445677:p.His915Asp	Somatic	0	50	0.00		0.36651032841881637	1	85.71	6	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.H915D	ENST00000263200.10	37	c.2743	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040133	0.75732	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.19938	2.11;2.11;2.11	3.5	3.5	0.40072	Tetratricopeptide-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.51126	0.1656	M	0.87682	2.9	0.80722	D	1	D;D	0.76494	0.976;0.999	D;D	0.91635	0.927;0.999	T	0.63497	-0.6624	10	0.72032	D	0.01	-11.7766	15.1756	0.72907	0.0:0.0:1.0:0.0	.	915;915	P53675-2;P53675	.;CLH2_HUMAN	D	915	ENSP00000439662:H915D;ENSP00000445677:H915D;ENSP00000441158:H915D	ENSP00000445677:H915D	H	-	1	0	CLTCL1	17588953	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	6.913000	0.75759	1.813000	0.52934	0.313000	0.20887	CAT	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.577	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	protein_coding	OTTHUMT00000316397.5	G	NM_007098	-		19208953	-1	no_errors	ENST00000263200	ensembl	human	known	74_37	missense	SNP	1.000	C
MC3R	4159	genome.wustl.edu	37	20	54824448	54824448	+	Silent	SNP	G	G	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr20:54824448G>A	ENST00000243911.2	+	1	661	c.549G>A	c.(547-549)tcG>tcA	p.S183S		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	183					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCGTCTACTCGGAGAGCAAAA	0.572																																																	0								ENSG00000124089						216.0	191.0	200.0					20																	54824448		2203	4300	6503	MC3R	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.549G>A	20.37:g.54824448G>A		Somatic	0	27	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	Q4KN27|Q9H517	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt	p.S183	ENST00000243911.2	37	c.549	CCDS13449.2	20																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt		0.572	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MC3R	protein_coding	OTTHUMT00000079786.2	G		-		54824448	+1	no_errors	ENST00000243911	ensembl	human	known	74_37	silent	SNP	0.312	A
ASL	435	genome.wustl.edu	37	7	65548130	65548130	+	Missense_Mutation	SNP	C	C	A			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr7:65548130C>A	ENST00000304874.9	+	6	517	c.415C>A	c.(415-417)Ctc>Atc	p.L139I	ASL_ENST00000380839.4_Missense_Mutation_p.L139I|ASL_ENST00000395331.3_Missense_Mutation_p.L139I|ASL_ENST00000395332.3_Missense_Mutation_p.L139I	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	139					arginine biosynthetic process via ornithine (GO:0042450)|arginine catabolic process (GO:0006527)|cellular nitrogen compound metabolic process (GO:0034641)|internal protein amino acid acetylation (GO:0006475)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	argininosuccinate lyase activity (GO:0004056)			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	CCTCTGGGAGCTCATTAGGAC	0.632																																																	0								ENSG00000126522						46.0	42.0	44.0					7																	65548130		2203	4300	6503	ASL	SO:0001583	missense	0			-	HGNC		CCDS5531.1, CCDS47597.1, CCDS47598.1	7q11.21	2012-10-02			ENSG00000126522	ENSG00000126522	4.3.2.1		746	protein-coding gene	gene with protein product		608310					Standard	NM_001024943		Approved		uc003tuo.3	P04424	OTTHUMG00000022876	ENST00000304874.9:c.415C>A	7.37:g.65548130C>A	ENSP00000307188:p.Leu139Ile	Somatic	0	28	0.00		0.36651032841881637	103	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	E7EMI0|E9PE48|Q6LDS5|Q96HS2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Argininosuccinate_lyase	p.L139I	ENST00000304874.9	37	c.415	CCDS5531.1	7	.	.	.	.	.	.	.	.	.	.	c	14.67	2.605100	0.46423	.	.	ENSG00000126522	ENST00000304874;ENST00000380839;ENST00000395332;ENST00000362000;ENST00000395331	D;D;D;D;D	0.99811	-6.87;-6.87;-6.87;-6.87;-6.87	4.82	3.0	0.34707	Lyase 1, N-terminal (1);L-Aspartase-like (1);	0.000000	0.85682	D	0.000000	D	0.99468	0.9811	M	0.82132	2.575	0.80722	D	1	B;P;B;B	0.40681	0.288;0.727;0.335;0.381	P;P;P;P	0.49887	0.625;0.6;0.493;0.614	D	0.98543	1.0633	10	0.66056	D	0.02	.	8.9066	0.35528	0.148:0.7739:0.0:0.078	.	139;139;139;139	B4DU69;E9PE48;E7EMI0;P04424	.;.;.;ARLY_HUMAN	I	139;139;139;74;139	ENSP00000307188:L139I;ENSP00000370219:L139I;ENSP00000378741:L139I;ENSP00000354710:L74I;ENSP00000378740:L139I	ENSP00000307188:L139I	L	+	1	0	ASL	65185565	1.000000	0.71417	0.910000	0.35882	0.003000	0.03518	4.072000	0.57563	0.627000	0.30340	-1.278000	0.01390	CTC	-	pfam_Fumarate_lyase_N,superfamily_L-Aspartase-like,tigrfam_Argininosuccinate_lyase		0.632	ASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASL	protein_coding	OTTHUMT00000251695.2	C	NM_000048	-		65548130	+1	no_errors	ENST00000304874	ensembl	human	known	74_37	missense	SNP	0.994	A
OR5F1	338674	genome.wustl.edu	37	11	55762040	55762040	+	Missense_Mutation	SNP	A	A	G			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr11:55762040A>G	ENST00000278409.1	-	1	61	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	21					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CTGTAGCTCCAGCGTGTCTGC	0.363																																																	0								ENSG00000149133						63.0	64.0	64.0					11																	55762040		2201	4296	6497	OR5F1	SO:0001583	missense	0			-	HGNC	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.62T>C	11.37:g.55762040A>G	ENSP00000278409:p.Leu21Pro	Somatic	0	58	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	Q495D1|Q6IFB9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L21P	ENST00000278409.1	37	c.62	CCDS31515.1	11	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.952871	0.00470	.	.	ENSG00000149133	ENST00000278409	T	0.00441	7.41	3.03	-5.97	0.02227	.	.	.	.	.	T	0.00073	0.0002	N	0.00335	-1.625	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.34129	-0.9841	9	0.02654	T	1	.	3.911	0.09204	0.1462:0.2558:0.4711:0.1268	.	21	O95221	OR5F1_HUMAN	P	21	ENSP00000278409:L21P	ENSP00000278409:L21P	L	-	2	0	OR5F1	55518616	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.692000	0.01918	-1.203000	0.02652	0.247000	0.18012	CTG	-	NULL		0.363	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5F1	protein_coding	OTTHUMT00000391532.1	A	NM_003697	-		55762040	-1	no_errors	ENST00000278409	ensembl	human	known	74_37	missense	SNP	0.000	G
OR2G3	81469	genome.wustl.edu	37	1	247769075	247769075	+	Missense_Mutation	SNP	T	T	C			TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr1:247769075T>C	ENST00000320002.2	+	1	220	c.188T>C	c.(187-189)cTc>cCc	p.L63P	RP11-978I15.10_ENST00000435333.1_RNA|RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TACTTTTTTCTCAGCAACCTC	0.438																																																	0								ENSG00000177476						267.0	257.0	260.0					1																	247769075		2203	4300	6503	OR2G3	SO:0001583	missense	0			-	HGNC	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.188T>C	1.37:g.247769075T>C	ENSP00000326301:p.Leu63Pro	Somatic	0	57	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L63P	ENST00000320002.2	37	c.188	CCDS31093.1	1	.	.	.	.	.	.	.	.	.	.	T	14.12	2.440438	0.43326	.	.	ENSG00000177476	ENST00000320002	T	0.14893	2.47	3.79	3.79	0.43588	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33272	U	0.005083	T	0.61652	0.2364	H	0.99906	4.925	0.52099	D	0.999945	D	0.89917	1.0	D	0.74023	0.982	T	0.77222	-0.2667	10	0.87932	D	0	.	10.8362	0.46688	0.0:0.0:0.0:1.0	.	63	Q8NGZ4	OR2G3_HUMAN	P	63	ENSP00000326301:L63P	ENSP00000326301:L63P	L	+	2	0	OR2G3	245835698	0.447000	0.25673	0.592000	0.28758	0.206000	0.24218	4.593000	0.61034	1.719000	0.51432	0.398000	0.26397	CTC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.438	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G3	protein_coding	OTTHUMT00000097624.1	T		-		247769075	+1	no_errors	ENST00000320002	ensembl	human	known	74_37	missense	SNP	0.968	C
ATP13A4	84239	genome.wustl.edu	37	3	193120360	193120360	+	3'UTR	DEL	A	A	-	rs142743757	byFrequency	TCGA-SG-A849-01A-11D-A351-09	TCGA-SG-A849-10A-01D-A351-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb71b3ce-4a95-4b1e-9a2a-fd6e0de5a8fc	795d6ea6-3fdc-4d98-be37-b1e1eabc1a64	g.chr3:193120360delA	ENST00000342695.4	-	0	3994				ATP13A4_ENST00000400270.2_3'UTR|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_3'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		ATGTTACAAGAGTCTCATTTC	0.368													A|A|-|deletion	781	0.15595	0.18	0.2291	5008	,	,		20748	0.1002		0.1551	False		,,,				2504	0.1299																0								ENSG00000127249																																			ATP13A4	SO:0001624	3_prime_UTR_variant	0				HGNC	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.*81T>-	3.37:g.193120360delA		Somatic	0	11	0.00		0.36651032841881637	0	0.00	0	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	6	64.71	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000342695.4	37	NULL	CCDS3304.2	3																																																																																			-	-		0.368	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	protein_coding	OTTHUMT00000157244.4	A	NM_032279			193120360	-1	no_errors	ENST00000482964	ensembl	human	known	74_37	rna	DEL	0.013	-
