#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_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
ABCG8	64241	genome.wustl.edu	37	2	44101013	44101013	+	Silent	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr2:44101013C>T	ENST00000272286.2	+	9	1389	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	433	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCATCGGCTTCCTCTATTTTG	0.522																																																	0													240.0	234.0	236.0					2																	44101013		2203	4300	6503	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1299C>T	2.37:g.44101013C>T			Q53QN8	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like	p.F433	ENST00000272286.2	37	c.1299	CCDS1815.1	2																																																																																			ABCG8	-	pfam_ABC_2_trans		0.522	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	HGNC	protein_coding	OTTHUMT00000250671.1	C	NM_022437		44101013	+1	no_errors	ENST00000272286	ensembl	human	known	70_37	silent	SNP	1.000	T
AHNAK2	113146	genome.wustl.edu	37	14	105420220	105420220	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr14:105420220G>A	ENST00000333244.5	-	7	1687	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	523						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCAGTACCCGCTTTTGAGGA	0.547																																																	0													102.0	109.0	107.0					14																	105420220		1997	4148	6145	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.1568C>T	14.37:g.105420220G>A	ENSP00000353114:p.Ala523Val		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.A523V	ENST00000333244.5	37	c.1568	CCDS45177.1	14	.	.	.	.	.	.	.	.	.	.	g	12.74	2.027668	0.35797	.	.	ENSG00000185567	ENST00000333244	T	0.03094	4.05	4.71	-5.6	0.02497	.	.	.	.	.	T	0.01222	0.0040	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.47368	-0.9123	9	0.17832	T	0.49	.	0.9585	0.01390	0.3062:0.2179:0.3141:0.1618	.	523	Q8IVF2	AHNK2_HUMAN	V	523	ENSP00000353114:A523V	ENSP00000353114:A523V	A	-	2	0	AHNAK2	104491265	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.909000	0.00337	-1.029000	0.03317	-1.613000	0.00800	GCG	AHNAK2	-	NULL		0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1	G	NM_138420		105420220	-1	no_errors	ENST00000333244	ensembl	human	known	70_37	missense	SNP	0.000	A
AMBRA1	55626	genome.wustl.edu	37	11	46430214	46430214	+	Silent	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:46430214C>T	ENST00000458649.2	-	17	3670	c.3252G>A	c.(3250-3252)ctG>ctA	p.L1084L	AMBRA1_ENST00000534300.1_Silent_p.L1024L|AMBRA1_ENST00000528950.1_Silent_p.L1055L|AMBRA1_ENST00000533727.1_Silent_p.L965L|AMBRA1_ENST00000426438.1_Silent_p.L1055L|AMBRA1_ENST00000298834.3_Silent_p.L1024L|AMBRA1_ENST00000314845.3_Silent_p.L994L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1084					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGGCATTCATCAGCCCCATGT	0.577																																																	0													73.0	64.0	67.0					11																	46430214		2202	4299	6501	SO:0001819	synonymous_variant	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.3252G>A	11.37:g.46430214C>T			A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1084	ENST00000458649.2	37	c.3252		11																																																																																			AMBRA1	-	NULL		0.577	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	C	NM_017749		46430214	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	silent	SNP	1.000	T
AMD1	262	genome.wustl.edu	37	6	111211525	111211525	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:111211525G>T	ENST00000368885.3	+	4	729	c.393G>T	c.(391-393)caG>caT	p.Q131H	AMD1_ENST00000368876.1_Missense_Mutation_p.Q62H|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368882.3_Intron|AMD1_ENST00000368877.5_Missense_Mutation_p.Q102H	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	131					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GGAATTTCCAGGAAGAAATAG	0.313																																																	0													53.0	58.0	56.0					6																	111211525		2201	4300	6501	SO:0001583	missense	262			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.393G>T	6.37:g.111211525G>T	ENSP00000357880:p.Gln131His		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Missense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.Q131H	ENST00000368885.3	37	c.393	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608620	0.66558	.	.	ENSG00000123505	ENST00000368885;ENST00000368877;ENST00000368876	.	.	.	5.75	5.75	0.90469	S-adenosylmethionine decarboxylase, core (2);	0.000000	0.85682	D	0.000000	T	0.55847	0.1946	L	0.56396	1.775	0.80722	D	1	B;B	0.09022	0.0;0.002	B;B	0.09377	0.001;0.004	T	0.53012	-0.8498	9	0.46703	T	0.11	.	19.9376	0.97146	0.0:0.0:1.0:0.0	.	102;131	A6NNH3;P17707	.;DCAM_HUMAN	H	131;102;62	.	ENSP00000357870:Q62H	Q	+	3	2	AMD1	111318218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.467000	0.80930	2.711000	0.92665	0.655000	0.94253	CAG	AMD1	-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr		0.313	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	G			111211525	+1	no_errors	ENST00000368885	ensembl	human	known	70_37	missense	SNP	1.000	T
AOX2P	344454	genome.wustl.edu	37	2	201607053	201607053	+	IGR	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr2:201607053C>T								AC007163.3 (7153 upstream) : AOX2P (19977 downstream)																							AGAAGGTACGCGGCGGATTCC	0.428																																																	0																																										SO:0001628	intergenic_variant	344454																															2.37:g.201607053C>T				RNA	SNP	-	NULL		37	NULL		2																																																																																			AOX2P	-	-	0	0.428					AOX2P	HGNC			C			201607053	+1	no_errors	ENST00000472376	ensembl	human	known	70_37	rna	SNP	0.688	T
APLP2	334	genome.wustl.edu	37	11	130005463	130005463	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:130005463C>A	ENST00000263574.5	+	13	1762	c.1690C>A	c.(1690-1692)Ctc>Atc	p.L564I	APLP2_ENST00000543137.1_Missense_Mutation_p.L471I|APLP2_ENST00000528499.1_Missense_Mutation_p.L508I|APLP2_ENST00000338167.5_Missense_Mutation_p.L564I|APLP2_ENST00000539648.1_Missense_Mutation_p.L352I|APLP2_ENST00000278756.7_Missense_Mutation_p.L574I|APLP2_ENST00000345598.5_Missense_Mutation_p.L335I	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	564					cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ATCAGATGAGCTCCTTCAGGA	0.582																																																	0													113.0	107.0	109.0					11																	130005463		2201	4297	6498	SO:0001583	missense	334			L19597	CCDS8486.1, CCDS44773.1, CCDS44774.1, CCDS44775.1, CCDS58196.1	11q24	2008-02-05			ENSG00000084234	ENSG00000084234			598	protein-coding gene	gene with protein product		104776		APPL2		10702673	Standard	NM_001642		Approved	APPH	uc021qsg.1	Q06481	OTTHUMG00000165767	ENST00000263574.5:c.1690C>A	11.37:g.130005463C>A	ENSP00000263574:p.Leu564Ile		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m	p.L564I	ENST00000263574.5	37	c.1690	CCDS8486.1	11	.	.	.	.	.	.	.	.	.	.	C	18.30	3.592960	0.66219	.	.	ENSG00000084234	ENST00000528499;ENST00000539648;ENST00000263574;ENST00000345598;ENST00000338167;ENST00000278756;ENST00000543137	T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41	5.28	5.28	0.74379	Amyloidogenic glycoprotein, E2 domain (1);	0.000000	0.64402	D	0.000001	T	0.69133	0.3077	M	0.75777	2.31	0.58432	D	0.999994	P;P;B;B;P;P;P	0.52692	0.955;0.823;0.159;0.074;0.912;0.576;0.837	D;P;B;B;P;B;P	0.71414	0.973;0.601;0.117;0.143;0.579;0.351;0.616	T	0.71666	-0.4524	10	0.66056	D	0.02	-20.6971	9.7259	0.40330	0.0:0.8407:0.0:0.1593	.	352;564;508;335;502;508;564	F5H845;Q06481;Q06481-2;Q06481-5;B4E3I5;Q06481-4;Q06481-3	.;APLP2_HUMAN;.;.;.;.;.	I	508;352;564;335;564;574;471	ENSP00000435914:L508I;ENSP00000443728:L352I;ENSP00000263574:L564I;ENSP00000263575:L335I;ENSP00000345444:L564I;ENSP00000278756:L574I;ENSP00000444122:L471I	ENSP00000263574:L564I	L	+	1	0	APLP2	129510673	1.000000	0.71417	0.908000	0.35775	0.936000	0.57629	3.047000	0.49854	2.480000	0.83734	0.591000	0.81541	CTC	APLP2	-	superfamily_Amyloid_glyco_E2_domain		0.582	APLP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APLP2	HGNC	protein_coding	OTTHUMT00000386109.1	C	NM_001642		130005463	+1	no_errors	ENST00000263574	ensembl	human	known	70_37	missense	SNP	0.979	A
ARMCX4	100131755	genome.wustl.edu	37	X	100745979	100745979	+	Silent	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:100745979G>A	ENST00000423738.3	+	2	2605	c.2403G>A	c.(2401-2403)ttG>ttA	p.L801L		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	170						integral component of membrane (GO:0016021)				lung(1)	1						GTGAGACCTTGCCTGGTGCCA	0.562																																																	0																																										SO:0001819	synonymous_variant	100131755			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.2403G>A	X.37:g.100745979G>A			A8K928|B3KXA4|Q5H9K8|Q8N8D6	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.L801	ENST00000423738.3	37	c.2403	CCDS59170.1	X																																																																																			ARMCX4	-	NULL		0.562	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	G	NM_001256155		100745979	+1	no_errors	ENST00000423738	ensembl	human	putative	70_37	silent	SNP	0.128	A
ASXL1	171023	genome.wustl.edu	37	20	31024506	31024506	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr20:31024506C>T	ENST00000375687.4	+	13	4415	c.3991C>T	c.(3991-3993)Cca>Tca	p.P1331S	ASXL1_ENST00000306058.5_Missense_Mutation_p.P1326S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1331					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TGAGATCCCTCCAGTTTTTCC	0.567			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													42.0	45.0	44.0					20																	31024506		2203	4300	6503	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3991C>T	20.37:g.31024506C>T	ENSP00000364839:p.Pro1331Ser		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.P1331S	ENST00000375687.4	37	c.3991	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	C	9.670	1.146576	0.21288	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.19532	2.15;2.14	4.56	2.37	0.29283	.	0.357642	0.27245	N	0.020256	T	0.12689	0.0308	L	0.34521	1.04	0.38918	D	0.957681	B;B	0.33857	0.429;0.429	B;B	0.27170	0.077;0.077	T	0.13926	-1.0491	10	0.33141	T	0.24	-5.5102	8.2159	0.31511	0.1503:0.7627:0.0:0.0869	.	1326;1331	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	S	1331;1331;1331;1252;1326	ENSP00000364839:P1331S;ENSP00000305119:P1326S	ENSP00000305119:P1326S	P	+	1	0	ASXL1	30488167	0.619000	0.27059	0.968000	0.41197	0.537000	0.34900	1.099000	0.31013	0.721000	0.32231	-0.310000	0.09108	CCA	ASXL1	-	NULL		0.567	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2	C	NM_015338		31024506	+1	no_errors	ENST00000375687	ensembl	human	known	70_37	missense	SNP	0.996	T
C1orf85	112770	genome.wustl.edu	37	1	156264186	156264186	+	Silent	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:156264186C>T	ENST00000362007.1	-	3	575	c.549G>A	c.(547-549)agG>agA	p.R183R	C1orf85_ENST00000482579.1_5'Flank	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	183					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					TGGCAAAAGTCCTGGTAGGGT	0.507																																																	0													65.0	62.0	63.0					1																	156264186		2203	4300	6503	SO:0001819	synonymous_variant	112770			BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.549G>A	1.37:g.156264186C>T			A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Silent	SNP	NULL	p.R183	ENST00000362007.1	37	c.549	CCDS1139.1	1																																																																																			C1orf85	-	NULL		0.507	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf85	HGNC	protein_coding	OTTHUMT00000052108.1	C	NM_144580		156264186	-1	no_errors	ENST00000362007	ensembl	human	known	70_37	silent	SNP	0.054	T
ERMARD	55780	genome.wustl.edu	37	6	170176052	170176052	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:170176052G>A	ENST00000366773.3	+	15	1444	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	ERMARD_ENST00000588451.1_Missense_Mutation_p.E335K|ERMARD_ENST00000418781.3_Missense_Mutation_p.E471K|ERMARD_ENST00000392095.4_Missense_Mutation_p.E345K|ERMARD_ENST00000366772.2_Missense_Mutation_p.E471K	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	471					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AGATAATTCTGAAACAAATGC	0.378																																																	0													85.0	81.0	83.0					6																	170176052		2203	4300	6503	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1411G>A	6.37:g.170176052G>A	ENSP00000355735:p.Glu471Lys		B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.E471K	ENST00000366773.3	37	c.1411	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	.	15.02	2.708764	0.48517	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.47177	0.85;0.85	5.27	5.27	0.74061	.	0.079495	0.53938	D	0.000052	T	0.57710	0.2072	M	0.77616	2.38	0.28507	N	0.913734	D;D;D	0.64830	0.994;0.994;0.988	P;P;P	0.60345	0.873;0.873;0.815	T	0.57277	-0.7839	10	0.72032	D	0.01	.	16.023	0.80512	0.0:0.0:1.0:0.0	.	471;471;471	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	K	471;471;471;345;119	ENSP00000355735:E471K;ENSP00000375945:E345K	ENSP00000355733:E119K	E	+	1	0	C6orf70	169917977	0.885000	0.30320	0.367000	0.25926	0.075000	0.17131	3.033000	0.49743	2.623000	0.88846	0.558000	0.71614	GAA	C6orf70	-	NULL		0.378	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	HGNC	protein_coding	OTTHUMT00000043238.2	G	NM_018341		170176052	+1	no_errors	ENST00000366773	ensembl	human	known	70_37	missense	SNP	0.583	A
CROCCP2	84809	genome.wustl.edu	37	1	16956946	16956946	+	lincRNA	SNP	C	C	G	rs28523274	byFrequency	TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:16956946C>G	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCAGGGCTCCCAGGCTCCTCC	0.612																																																	0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956946C>G			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.612	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	C	NR_026752.1		16956946	-1	no_errors	ENST00000362058	ensembl	human	known	70_37	rna	SNP	0.035	G
CNR2	1269	genome.wustl.edu	37	1	24201626	24201626	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:24201626G>A	ENST00000374472.4	-	2	643	c.482C>T	c.(481-483)tCa>tTa	p.S161L	CNR2_ENST00000536471.1_Missense_Mutation_p.S161L	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	161					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	GACTAGTGCTGAGAGGACCCA	0.587																																																	0													74.0	71.0	72.0					1																	24201626		2203	4300	6503	SO:0001583	missense	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.482C>T	1.37:g.24201626G>A	ENSP00000363596:p.Ser161Leu		C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_2,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.S161L	ENST00000374472.4	37	c.482	CCDS245.1	1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103431	0.56291	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.46819	0.86;0.86	5.78	5.78	0.91487	GPCR, rhodopsin-like superfamily (1);	0.246825	0.39475	N	0.001360	T	0.58637	0.2136	M	0.85041	2.73	0.36259	D	0.85442	B	0.29716	0.255	B	0.39935	0.314	T	0.69347	-0.5169	10	0.87932	D	0	.	10.4351	0.44430	0.074:0.1459:0.7801:0.0	.	161	P34972	CNR2_HUMAN	L	161	ENSP00000363596:S161L;ENSP00000442830:S161L	ENSP00000363596:S161L	S	-	2	0	CNR2	24074213	0.991000	0.36638	0.908000	0.35775	0.353000	0.29299	4.605000	0.61119	2.724000	0.93272	0.555000	0.69702	TCA	CNR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.587	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR2	HGNC	protein_coding	OTTHUMT00000038949.1	G	NM_001841		24201626	-1	no_errors	ENST00000374472	ensembl	human	known	70_37	missense	SNP	0.756	A
CTSW	1521	genome.wustl.edu	37	11	65650281	65650281	+	Silent	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:65650281C>T	ENST00000307886.3	+	7	697	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CTSW_ENST00000528419.1_Silent_p.F217F	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	217					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ACTACCCGTTCCAGGGCAAAG	0.597																																																	0													90.0	81.0	84.0					11																	65650281		2201	4296	6497	SO:0001819	synonymous_variant	1521			AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.651C>T	11.37:g.65650281C>T			Q86VT4	Silent	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.F217	ENST00000307886.3	37	c.651	CCDS8117.1	11																																																																																			CTSW	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.597	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSW	HGNC	protein_coding	OTTHUMT00000391042.1	C	NM_001335		65650281	+1	no_errors	ENST00000307886	ensembl	human	known	70_37	silent	SNP	0.818	T
CXCR2P1	3580	genome.wustl.edu	37	2	218925822	218925822	+	RNA	SNP	G	G	C			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr2:218925822G>C	ENST00000439871.1	-	0	558					NR_002712.1				chemokine (C-X-C motif) receptor 2 pseudogene 1																		CATTCATCTTGGAGGCAGCCA	0.532																																																	0																																												3580			M98335		2q35	2012-05-02	2010-04-14	2010-04-14	ENSG00000229754	ENSG00000229754			6028	pseudogene	pseudogene			"""interleukin 8 receptor, beta pseudogene"", ""chemokine (C-X-C motif) receptor 2 pseudogene"""	IL8RBP, CXCR2P		1427896, 1303245	Standard	NR_002712		Approved		uc002vgx.3		OTTHUMG00000155244		2.37:g.218925822G>C				RNA	SNP	-	NULL	ENST00000439871.1	37	NULL		2																																																																																			CXCR2P1	-	-		0.532	CXCR2P1-002	KNOWN	basic	processed_transcript	CXCR2P1	HGNC	pseudogene	OTTHUMT00000338985.1	G	NR_002712		218925822	-1	no_errors	ENST00000439871	ensembl	human	known	70_37	rna	SNP	0.002	C
CXorf57	55086	genome.wustl.edu	37	X	105905424	105905424	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:105905424G>A	ENST00000372548.4	+	12	2267	c.2158G>A	c.(2158-2160)Gac>Aac	p.D720N	CXorf57_ENST00000497124.1_3'UTR|CXorf57_ENST00000372544.2_Missense_Mutation_p.D623N	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	720							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GTTTCTTAGTGACCAGTATAA	0.403																																																	0													82.0	76.0	78.0					X																	105905424		2203	4300	6503	SO:0001583	missense	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.2158G>A	X.37:g.105905424G>A	ENSP00000361628:p.Asp720Asn		H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.D720N	ENST00000372548.4	37	c.2158	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	G	10.42	1.344735	0.24426	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.42131	0.98;0.99;0.98	4.93	0.95	0.19572	.	0.558173	0.20542	N	0.090281	T	0.22166	0.0534	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18398	-1.0338	10	0.56958	D	0.05	0.5685	10.852	0.46775	0.1128:0.4277:0.4595:0.0	.	720;720	A8K6R5;Q6NSI4	.;CX057_HUMAN	N	623;720;431	ENSP00000361623:D623N;ENSP00000361628:D720N;ENSP00000405866:D431N	ENSP00000361623:D623N	D	+	1	0	CXorf57	105792080	0.026000	0.19158	0.051000	0.19133	0.569000	0.35902	-0.016000	0.12613	-0.079000	0.12707	-0.209000	0.12711	GAC	CXorf57	-	NULL		0.403	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	HGNC	protein_coding	OTTHUMT00000057800.2	G	NM_018015		105905424	+1	no_errors	ENST00000372548	ensembl	human	known	70_37	missense	SNP	0.066	A
DICER1	23405	genome.wustl.edu	37	14	95574781	95574781	+	Silent	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr14:95574781C>T	ENST00000526495.1	-	17	2607	c.2316G>A	c.(2314-2316)gtG>gtA	p.V772V	DICER1_ENST00000541352.1_Silent_p.V772V|DICER1_ENST00000527414.1_Silent_p.V772V|DICER1_ENST00000556045.1_5'Flank|DICER1_ENST00000393063.1_Silent_p.V772V|DICER1_ENST00000343455.3_Silent_p.V772V			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	772					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCATTCCTATCACATACAGGT	0.418			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													142.0	128.0	133.0					14																	95574781		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.2316G>A	14.37:g.95574781C>T			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom	p.V772	ENST00000526495.1	37	c.2316	CCDS9931.1	14																																																																																			DICER1	-	NULL		0.418	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	HGNC	protein_coding	OTTHUMT00000387997.1	C			95574781	-1	no_errors	ENST00000343455	ensembl	human	known	70_37	silent	SNP	1.000	T
DEGS2	123099	genome.wustl.edu	37	14	100615443	100615443	+	Silent	SNP	G	G	A	rs145891510		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr14:100615443G>A	ENST00000305631.5	-	2	1262	c.687C>T	c.(685-687)ttC>ttT	p.F229F	DEGS2_ENST00000557117.1_5'UTR|DEGS2_ENST00000553834.1_Intron	NM_206918.2	NP_996801.2			delta(4)-desaturase, sphingolipid 2									p.F229F(2)		breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCTCGGCCACGAAGTGGCCCG	0.622																																																	2	Substitution - coding silent(2)	lung(2)						G		0,4406		0,0,2203	61.0	73.0	69.0		687	-5.1	0.8	14	dbSNP_134	69	2,8592	1.2+/-3.3	0,2,4295	no	coding-synonymous	DEGS2	NM_206918.2		0,2,6498	AA,AG,GG		0.0233,0.0,0.0154		229/324	100615443	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	123099				CCDS9956.1	14q32.2	2013-09-02	2011-12-09	2004-12-14	ENSG00000168350	ENSG00000168350		"""Fatty acid desaturases"""	20113	protein-coding gene	gene with protein product	"""sphingolipid delta(4)-desaturase 2"", ""dihydroceramide desaturase 2"""	610862	"""chromosome 14 open reading frame 66"", ""degenerative spermatocyte homolog 2, lipid desaturase (Drosophila)"""	C14orf66			Standard	NM_206918		Approved	DES2, FADS8	uc001ygx.2	Q6QHC5	OTTHUMG00000171537	ENST00000305631.5:c.687C>T	14.37:g.100615443G>A				Silent	SNP	pfam_Fatty_acid_desaturase-1,pfam_Sphingolipid_d4-desaturase_N,pirsf_Sphingolipid_d4-desaturase	p.F229	ENST00000305631.5	37	c.687	CCDS9956.1	14																																																																																			DEGS2	-	pfam_Fatty_acid_desaturase-1,pirsf_Sphingolipid_d4-desaturase		0.622	DEGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEGS2	HGNC	protein_coding	OTTHUMT00000414003.1	G	NM_206918		100615443	-1	no_errors	ENST00000305631	ensembl	human	known	70_37	silent	SNP	0.994	A
DMRT1	1761	genome.wustl.edu	37	9	916849	916849	+	Silent	SNP	C	C	T	rs534737562		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr9:916849C>T	ENST00000382276.3	+	4	1058	c.909C>T	c.(907-909)agC>agT	p.S303S	DMRT1_ENST00000569227.1_Silent_p.S145S	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	303					cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		TGGGCCAGAGCGTGCCCCAGT	0.537																																																	0													131.0	110.0	117.0					9																	916849		2203	4300	6503	SO:0001819	synonymous_variant	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.909C>T	9.37:g.916849C>T			B2R913|Q6T1H8|Q6T1H9|Q8IW77	Silent	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.S303	ENST00000382276.3	37	c.909	CCDS6442.1	9																																																																																			DMRT1	-	NULL		0.537	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2	C	NM_021951		916849	+1	no_errors	ENST00000382276	ensembl	human	known	70_37	silent	SNP	0.066	T
YEATS2	55689	genome.wustl.edu	37	3	183520323	183520324	+	Intron	INS	-	-	TA	rs11276625|rs74710373	byFrequency	TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr3:183520323_183520324insTA	ENST00000305135.5	+	26	3697				AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			atatacacgtgtatatacacac	0.332														2148	0.428914	0.2602	0.4568	5008	,	,		21295	0.5228		0.4642	False		,,,				2504	0.5041																0																																										SO:0001627	intron_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3503-720->TA	3.37:g.183520328_183520329dupTA			A7E2B9|D3DNS9|Q641P6|Q9NW96	RNA	INS	-	NULL	ENST00000305135.5	37	NULL	CCDS43175.1	3																																																																																			AC131160.1	-	-		0.332	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216166	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000346507.2	-	NM_018023		183520324	-1	no_errors	ENST00000401347	ensembl	human	novel	70_37	rna	INS	0.000:0.000	TA
AL160279.1	0	genome.wustl.edu	37	9	90359854	90359854	+	RNA	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr9:90359854G>A	ENST00000410476.1	-	0	54																											gatttttgtcgttacttttaa	0.299																																																	0																																												0																															9.37:g.90359854G>A				RNA	SNP	-	NULL	ENST00000410476.1	37	NULL		9																																																																																			AL160279.1	-	-		0.299	AL160279.1-201	NOVEL	basic	miRNA	ENSG00000222408	Clone_based_ensembl_gene	miRNA		G			90359854	-1	no_errors	ENST00000410476	ensembl	human	novel	70_37	rna	SNP	0.172	A
DYTN	391475	genome.wustl.edu	37	2	207513559	207513560	+	IGR	INS	-	-	AT			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr2:207513559_207513560insAT	ENST00000452335.2	-	0	2051				AC010731.4_ENST00000543490.1_lincRNA	NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin							plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		attaaatatacatatatataac	0.307																																																	0																																										SO:0001628	intergenic_variant	0			ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729		2.37:g.207513566_207513567dupAT				RNA	INS	-	NULL	ENST00000452335.2	37	NULL	CCDS46502.1	2																																																																																			AC010731.4	-	-		0.307	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000235118	Clone_based_vega_gene	protein_coding	OTTHUMT00000336799.1	-			207513560	+1	no_errors	ENST00000441223	ensembl	human	known	70_37	rna	INS	0.000:0.000	AT
KANK1	23189	genome.wustl.edu	37	9	478095	478095	+	Intron	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr9:478095G>A	ENST00000382303.1	+	3	291				RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.2_ENST00000598100.1_RNA	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1						negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCTCTGCCGTGAGCATCAAAG	0.463																																																	0																																										SO:0001627	intron_variant	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.-362+4822G>A	9.37:g.478095G>A			A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	RNA	SNP	-	NULL	ENST00000382303.1	37	NULL	CCDS34976.1	9																																																																																			RP11-165F24.2	-	-		0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000235330	Clone_based_vega_gene	protein_coding	OTTHUMT00000051484.2	G	NM_015158		478095	+1	no_errors	ENST00000598100	ensembl	human	known	70_37	rna	SNP	0.987	A
TIAM2	26230	genome.wustl.edu	37	6	155575538	155575539	+	Intron	INS	-	-	C	rs201028845|rs536446786	byFrequency	TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:155575538_155575539insC	ENST00000461783.3	+	28	5586				TIAM2_ENST00000456877.2_Intron|TIAM2_ENST00000275246.7_Intron|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000318981.5_Intron|TIAM2_ENST00000360366.4_Intron|TIAM2_ENST00000367174.2_Intron|TIAM2_ENST00000529824.2_Intron|TIAM2_ENST00000456144.1_Intron|TIAM2_ENST00000528391.2_Intron			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						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)		CTGTTTTCTCTCCCCCCCCACC	0.525																																																	0																																										SO:0001627	intron_variant	0				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.4314-14->C	6.37:g.155575546_155575546dupC			B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	RNA	INS	-	NULL	ENST00000461783.3	37	NULL	CCDS34558.1	6																																																																																			RP11-477D19.2	-	-		0.525	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ENSG00000235381	Clone_based_vega_gene	protein_coding	OTTHUMT00000387980.2	-	NM_012454		155575539	-1	no_errors	ENST00000435295	ensembl	human	known	70_37	rna	INS	0.000:0.000	C
DNM1P47	100216544	genome.wustl.edu	37	15	102299805	102299805	+	RNA	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr15:102299805G>A	ENST00000561463.1	+	0	7851									DNM1 pseudogene 47																		CGCGTGGGAAGAAGAAGACAC	0.582																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299805G>A				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.582	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	G	NG_009149		102299805	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.710	A
FAM162B	221303	genome.wustl.edu	37	6	117083213	117083213	+	Missense_Mutation	SNP	C	C	T	rs541992567		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:117083213C>T	ENST00000368557.4	-	3	463	c.317G>A	c.(316-318)cGa>cAa	p.R106Q		NM_001085480.2	NP_001078949.1	Q5T6X4	F162B_HUMAN	family with sequence similarity 162, member B	106						integral component of membrane (GO:0016021)		p.R106L(1)		large_intestine(2)|lung(4)	6						AGCTTTCACTCGAGCTTTGTT	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		16331	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											205.0	194.0	197.0					6																	117083213		1885	4116	6001	SO:0001583	missense	221303			BC038997	CCDS43497.1	6q22.31	2014-01-28	2008-06-05	2008-06-05	ENSG00000183807	ENSG00000183807			21549	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 189"""	C6orf189			Standard	NM_001085480		Approved	bA86F4.2	uc003pxi.2	Q5T6X4	OTTHUMG00000015446	ENST00000368557.4:c.317G>A	6.37:g.117083213C>T	ENSP00000357545:p.Arg106Gln		Q8IXW8	Missense_Mutation	SNP	pfam_DUF1075	p.R106Q	ENST00000368557.4	37	c.317	CCDS43497.1	6	.	.	.	.	.	.	.	.	.	.	C	17.00	3.277751	0.59758	.	.	ENSG00000183807	ENST00000368557	T	0.61742	0.08	4.48	3.61	0.41365	.	0.000000	0.64402	D	0.000002	T	0.56202	0.1969	M	0.84433	2.695	0.46203	D	0.998923	D	0.57571	0.98	P	0.47981	0.563	T	0.66424	-0.5927	10	0.72032	D	0.01	-5.1308	11.7265	0.51712	0.0:0.9115:0.0:0.0885	.	106	Q5T6X4	F162B_HUMAN	Q	106	ENSP00000357545:R106Q	ENSP00000357545:R106Q	R	-	2	0	FAM162B	117189906	1.000000	0.71417	0.964000	0.40570	0.402000	0.30811	5.202000	0.65169	1.247000	0.43917	-0.142000	0.14014	CGA	FAM162B	-	pfam_DUF1075		0.383	FAM162B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM162B	HGNC	protein_coding	OTTHUMT00000041965.1	C	XM_927381		117083213	-1	no_errors	ENST00000368557	ensembl	human	known	70_37	missense	SNP	0.991	T
FAM47A	158724	genome.wustl.edu	37	X	34149765	34149765	+	Silent	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:34149765G>A	ENST00000346193.3	-	1	682	c.631C>T	c.(631-633)Cta>Tta	p.L211L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	211	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TCCGGGCTTAGATGGGACACT	0.632																																																	0													40.0	43.0	42.0					X																	34149765		2200	4298	6498	SO:0001819	synonymous_variant	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.631C>T	X.37:g.34149765G>A			A8K8I9|Q8TAA0	Silent	SNP	NULL	p.L211	ENST00000346193.3	37	c.631	CCDS43926.1	X																																																																																			FAM47A	-	NULL		0.632	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	G	NM_203408		34149765	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	silent	SNP	0.001	A
FBRS	64319	genome.wustl.edu	37	16	30680445	30680445	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr16:30680445C>T	ENST00000287468.5	+	12	1125	c.862C>T	c.(862-864)Cgg>Tgg	p.R288W	FBRS_ENST00000568722.1_Missense_Mutation_p.R200W|FBRS_ENST00000395073.2_Missense_Mutation_p.R200W|FBRS_ENST00000356166.6_Missense_Mutation_p.R808W	NM_001105079.1	NP_001098549.1	Q9HAH7	FBRS_HUMAN	fibrosin	288										ovary(1)	1			Colorectal(24;0.103)			TCCCAAGGCCCGGGCTGGTGA	0.677																																																	0													7.0	7.0	7.0					16																	30680445		2176	4272	6448	SO:0001583	missense	64319			AK021680		16p11.2	2008-02-05	2007-04-18	2007-04-18	ENSG00000156860	ENSG00000156860			20442	protein-coding gene	gene with protein product		608601	"""fibrosin 1"""	FBS1		7892239, 9809749	Standard	NM_001105079		Approved	FBS, FLJ11618	uc002dzd.4	Q9HAH7	OTTHUMG00000132390	ENST00000287468.5:c.862C>T	16.37:g.30680445C>T	ENSP00000287468:p.Arg288Trp		B4DP86|Q96CI9|Q9H9X4	Missense_Mutation	SNP	prints_AUTS2	p.R808W	ENST00000287468.5	37	c.2422		16	.	.	.	.	.	.	.	.	.	.	C	15.32	2.800033	0.50208	.	.	ENSG00000156860	ENST00000356166;ENST00000287468;ENST00000395073	T	0.37411	1.2	4.98	1.84	0.25277	.	0.000000	0.64402	D	0.000008	T	0.43456	0.1248	L	0.34521	1.04	0.29991	N	0.816886	D	0.76494	0.999	P	0.62089	0.898	T	0.47289	-0.9129	10	0.62326	D	0.03	-4.8373	13.0466	0.58931	0.4322:0.5678:0.0:0.0	.	288	Q9HAH7	FBRS_HUMAN	W	808;288;200	ENSP00000348489:R808W	ENSP00000287468:R288W	R	+	1	2	FBRS	30587946	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	3.162000	0.50755	0.248000	0.21435	-0.310000	0.09108	CGG	FBRS	-	NULL		0.677	FBRS-201	KNOWN	basic|appris_principal	protein_coding	FBRS	HGNC	protein_coding		C	NM_022452		30680445	+1	no_errors	ENST00000356166	ensembl	human	known	70_37	missense	SNP	0.998	T
FCGBP	8857	genome.wustl.edu	37	19	40382452	40382452	+	Silent	SNP	C	C	T	rs373319655		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr19:40382452C>T	ENST00000221347.6	-	22	10441	c.10434G>A	c.(10432-10434)gcG>gcA	p.A3478A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3478	VWFD 8. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGTGGCAGGGCGCCAGCGGGC	0.706																																																	0													2.0	2.0	2.0					19																	40382452		359	1168	1527	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.10434G>A	19.37:g.40382452C>T			O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.A3478	ENST00000221347.6	37	c.10434	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.706	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	C	NM_003890		40382452	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	0.003	T
FEN1	2237	genome.wustl.edu	37	11	61563301	61563301	+	Silent	SNP	C	C	G			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:61563301C>G	ENST00000305885.2	+	2	881	c.468C>G	c.(466-468)ccC>ccG	p.P156P	FADS2_ENST00000574708.1_Intron	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTGATGCACCCAGTGAGGCAG	0.557								Editing and processing nucleases																																									0													60.0	61.0	61.0					11																	61563301		2202	4299	6501	SO:0001819	synonymous_variant	2237			L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.468C>G	11.37:g.61563301C>G				Silent	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.P156	ENST00000305885.2	37	c.468	CCDS8010.1	11																																																																																			FEN1	-	pfam_XPG/RAD2_endonuclease,smart_XPG/RAD2_endonuclease,prints_XPGC_Rad_DNA_repair		0.557	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEN1	HGNC	protein_coding	OTTHUMT00000398526.1	C	NM_004111		61563301	+1	no_errors	ENST00000305885	ensembl	human	known	70_37	silent	SNP	1.000	G
FMO5	2330	genome.wustl.edu	37	1	146672991	146672991	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:146672991T>A	ENST00000254090.4	-	7	1314	c.926A>T	c.(925-927)gAg>gTg	p.E309V	FMO5_ENST00000369272.3_Intron|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000441068.2_Missense_Mutation_p.E309V|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	309						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)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GGCAGCTGTCTCCGTGAATTC	0.453																																																	0													73.0	70.0	71.0					1																	146672991		2203	4300	6503	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.926A>T	1.37:g.146672991T>A	ENSP00000254090:p.Glu309Val		B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.E309V	ENST00000254090.4	37	c.926	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	17.74	3.464327	0.63513	.	.	ENSG00000131781	ENST00000441068;ENST00000254090	T;T	0.62639	0.01;0.01	6.17	6.17	0.99709	.	0.151016	0.64402	D	0.000013	T	0.77391	0.4123	M	0.89414	3.03	0.80722	D	1	B;P	0.49447	0.058;0.924	B;D	0.63381	0.257;0.914	T	0.81185	-0.1048	9	.	.	.	-24.6886	14.7743	0.69713	0.0:0.0:0.0:1.0	.	309;309	P49326;C9JJD1	FMO5_HUMAN;.	V	309	ENSP00000416011:E309V;ENSP00000254090:E309V	.	E	-	2	0	FMO5	145139615	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.715000	0.54897	2.371000	0.80710	0.533000	0.62120	GAG	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase		0.453	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	T	NM_001461		146672991	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	missense	SNP	1.000	A
FOLH1	2346	genome.wustl.edu	37	11	49204790	49204790	+	Silent	SNP	A	A	G	rs76509850	byFrequency	TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:49204790A>G	ENST00000256999.2	-	7	1091	c.831T>C	c.(829-831)taT>taC	p.Y277Y	FOLH1_ENST00000340334.7_Silent_p.Y262Y|FOLH1_ENST00000356696.3_Silent_p.Y277Y|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.Y262Y	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	277	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)	GCCTATAAGCATATTCTGAAA	0.343																																																	0													61.0	61.0	61.0					11																	49204790		2201	4298	6499	SO:0001819	synonymous_variant	2346			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.831T>C	11.37:g.49204790A>G			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom	p.Y277	ENST00000256999.2	37	c.831	CCDS7946.1	11																																																																																			FOLH1	-	NULL		0.343	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOLH1	HGNC	protein_coding	OTTHUMT00000390896.1	A	NM_004476		49204790	-1	no_errors	ENST00000256999	ensembl	human	known	70_37	silent	SNP	1.000	G
FRG2B	441581	genome.wustl.edu	37	10	135439803	135439803	+	Silent	SNP	C	C	T	rs202189720		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr10:135439803C>T	ENST00000425520.1	-	2	235	c.183G>A	c.(181-183)tcG>tcA	p.S61S	FRG2B_ENST00000443774.1_Silent_p.S62S	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	61						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GATTGGGCTCCGATCCTGCTG	0.488																																																	0													1.0	1.0	1.0					10																	135439803		23	64	87	SO:0001819	synonymous_variant	441581			AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.183G>A	10.37:g.135439803C>T			Q5VSQ1	Silent	SNP	NULL	p.S62	ENST00000425520.1	37	c.186	CCDS44502.1	10																																																																																			FRG2B	-	NULL		0.488	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FRG2B	HGNC	protein_coding	OTTHUMT00000467780.1	C	NM_001080998		135439803	-1	no_errors	ENST00000443774	ensembl	human	known	70_37	silent	SNP	0.213	T
MTX1	4580	genome.wustl.edu	37	1	155185426	155185426	+	IGR	SNP	G	G	C			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:155185426G>C	ENST00000368376.3	+	0	1632				GBAP1_ENST00000486869.1_RNA|RP11-263K19.6_ENST00000455788.1_RNA	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1						cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCAGAACTTGGAACCCACAC	0.582																																																	0																																										SO:0001628	intergenic_variant	2630				CCDS1100.1, CCDS1101.1	1q21	2008-07-18			ENSG00000173171	ENSG00000173171			7504	protein-coding gene	gene with protein product		600605		MTX		7753840	Standard	XM_006711338		Approved	MTXN	uc001fjb.3	Q13505	OTTHUMG00000035708		1.37:g.155185426G>C			B1AVR9|B1AVS0|B2R9P4|Q9BUU3	RNA	SNP	-	NULL	ENST00000368376.3	37	NULL	CCDS1100.1	1	.	.	.	.	.	.	.	.	.	.	.	8.577	0.881497	0.17467	.	.	ENSG00000160766	ENST00000368374	.	.	.	3.2	3.2	0.36748	.	0.524933	0.16794	N	0.199243	T	0.50326	0.1609	.	.	.	0.20074	N	0.99994	B	0.30361	0.277	P	0.45946	0.498	T	0.58792	-0.7574	7	0.66056	D	0.02	.	9.9872	0.41849	0.0:0.0:1.0:0.0	.	187	B3KQW3	.	E	226	.	ENSP00000357358:Q226E	Q	-	1	0	GBAP1	153452050	1.000000	0.71417	1.000000	0.80357	0.467000	0.32768	4.236000	0.58675	1.784000	0.52394	0.313000	0.20887	CAA	GBAP1	-	-		0.582	MTX1-001	KNOWN	basic|CCDS	protein_coding	GBAP1	HGNC	protein_coding	OTTHUMT00000086844.1	G	NM_198883		155185426	-1	no_errors	ENST00000368374	ensembl	human	known	70_37	rna	SNP	1.000	C
COLGALT2	23127	genome.wustl.edu	37	1	183947545	183947545	+	Splice_Site	SNP	C	C	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:183947545C>A	ENST00000361927.4	-	2	744	c.373G>T	c.(373-375)Gag>Tag	p.E125*	COLGALT2_ENST00000546159.1_Splice_Site_p.E125*	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	125					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										GCTACTCACTCTGGTTCATCC	0.398																																																	0													180.0	159.0	166.0					1																	183947545		2203	4300	6503	SO:0001630	splice_region_variant	23127			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.374+1G>T	1.37:g.183947545C>A			O60327|Q9BZR0	Nonsense_Mutation	SNP	pfam_Glyco_trans_25	p.E125*	ENST00000361927.4	37	c.373	CCDS1360.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.488353	0.97607	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	.	.	.	5.06	1.85	0.25348	.	0.388897	0.28641	N	0.014637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-13.8243	15.4598	0.75346	0.0:0.4721:0.5279:0.0	.	.	.	.	X	125	.	ENSP00000354960:E125X	E	-	1	0	GLT25D2	182214168	0.798000	0.28890	0.652000	0.29579	0.605000	0.37080	1.150000	0.31639	0.599000	0.29845	0.650000	0.86243	GAG	GLT25D2	-	NULL		0.398	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D2	HGNC	protein_coding	OTTHUMT00000086128.1	C	NM_015101	Nonsense_Mutation	183947545	-1	no_errors	ENST00000361927	ensembl	human	known	70_37	nonsense	SNP	0.496	A
GNAT3	346562	genome.wustl.edu	37	7	80103615	80103615	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:80103615G>A	ENST00000398291.3	-	5	635	c.542C>T	c.(541-543)aCg>aTg	p.T181M	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	181					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GATTCCAGTCGTTTTCACTCG	0.343																																																	0													73.0	69.0	70.0					7																	80103615		1848	4102	5950	SO:0001583	missense	346562				CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.542C>T	7.37:g.80103615G>A	ENSP00000381339:p.Thr181Met		A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I	p.T181M	ENST00000398291.3	37	c.542	CCDS47625.1	7	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915663	0.92178	.	.	ENSG00000214415	ENST00000398291	D	0.95918	-3.85	5.99	5.99	0.97316	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	U	0.000000	D	0.98994	0.9657	H	0.99435	4.565	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.98886	1.0771	9	.	.	.	.	20.074	0.97736	0.0:0.0:1.0:0.0	.	181	A8MTJ3	GNAT3_HUMAN	M	181	ENSP00000381339:T181M	.	T	-	2	0	GNAT3	79941551	1.000000	0.71417	0.971000	0.41717	0.975000	0.68041	9.493000	0.97960	2.853000	0.98044	0.655000	0.94253	ACG	GNAT3	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su		0.343	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAT3	HGNC	protein_coding	OTTHUMT00000339909.3	G	XM_294370		80103615	-1	no_errors	ENST00000398291	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR139	124274	genome.wustl.edu	37	16	20043656	20043656	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr16:20043656T>C	ENST00000570682.1	-	2	763	c.463A>G	c.(463-465)Acc>Gcc	p.T155A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	155					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						AGGAAGCAGGTGATGTAAACA	0.522																																																	0													187.0	139.0	155.0					16																	20043656		2203	4300	6503	SO:0001583	missense	124274			AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.463A>G	16.37:g.20043656T>C	ENSP00000458791:p.Thr155Ala		A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T155A	ENST00000570682.1	37	c.463	CCDS32398.1	16	.	.	.	.	.	.	.	.	.	.	T	0.090	-1.169248	0.01660	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.73	4.64	0.57946	GPCR, rhodopsin-like superfamily (1);	0.221404	0.47852	N	0.000220	T	0.18215	0.0437	N	0.02539	-0.55	0.31613	N	0.651286	B	0.02656	0.0	B	0.10450	0.005	T	0.13980	-1.0489	9	0.19147	T	0.46	-47.152	10.9208	0.47163	0.0:0.0733:0.0:0.9267	.	155	Q6DWJ6	GP139_HUMAN	A	155	.	ENSP00000370779:T155A	T	-	1	0	GPR139	19951157	1.000000	0.71417	0.904000	0.35570	0.520000	0.34377	3.563000	0.53784	1.002000	0.39104	0.533000	0.62120	ACC	GPR139	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.522	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR139	HGNC	protein_coding	OTTHUMT00000438522.1	T	NM_001002911		20043656	-1	no_errors	ENST00000570682	ensembl	human	known	70_37	missense	SNP	0.991	C
GUCY1A2	2977	genome.wustl.edu	37	11	106856836	106856836	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:106856836G>A	ENST00000526355.2	-	2	793	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.L109F|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.L109F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	109					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	GTCCTCTTGAGAGTCTGCTGT	0.343																																																	0													94.0	90.0	92.0					11																	106856836		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.325C>T	11.37:g.106856836G>A	ENSP00000431245:p.Leu109Phe		A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L109F	ENST00000526355.2	37	c.325	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	G	19.00	3.740899	0.69304	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.92911	-2.74;-3.13;-2.85	5.32	4.41	0.53225	.	0.000000	0.35903	U	0.002911	D	0.94275	0.8161	L	0.58810	1.83	0.48632	D	0.999689	D;D;B	0.76494	0.999;0.983;0.014	D;P;B	0.80764	0.994;0.823;0.008	D	0.93957	0.7237	10	0.56958	D	0.05	.	11.233	0.48923	0.0866:0.0:0.9134:0.0	.	109;109;109	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	F	109	ENSP00000431245:L109F;ENSP00000282249:L109F;ENSP00000344874:L109F	ENSP00000282249:L109F	L	-	1	0	GUCY1A2	106362046	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.659000	0.54489	1.371000	0.46172	0.557000	0.71058	CTC	GUCY1A2	-	NULL		0.343	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	G			106856836	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	missense	SNP	1.000	A
HDHD1	8226	genome.wustl.edu	37	X	6995415	6995415	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:6995415G>A	ENST00000381077.5	-	3	432	c.356C>T	c.(355-357)tCg>tTg	p.S119L	HDHD1_ENST00000540122.1_Missense_Mutation_p.S119L|HDHD1_ENST00000424830.2_Missense_Mutation_p.S142L|HDHD1_ENST00000412827.2_Missense_Mutation_p.S76L	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	119					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						CATATCGAACGACGCGGACCC	0.587																																																	0													44.0	46.0	45.0					X																	6995415		2055	4175	6230	SO:0001583	missense	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.356C>T	X.37:g.6995415G>A	ENSP00000370467:p.Ser119Leu		B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3	p.S142L	ENST00000381077.5	37	c.425	CCDS48075.1	X	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646191	0.47258	.	.	ENSG00000130021	ENST00000381077;ENST00000544385;ENST00000412827;ENST00000424830;ENST00000540122;ENST00000486446	T;T;T;T;T	0.05081	3.5;3.5;3.5;3.5;3.5	3.88	3.88	0.44766	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.292047	0.35407	N	0.003225	T	0.08935	0.0221	L	0.31578	0.945	0.26098	N	0.980863	D;P;B;P	0.76494	0.999;0.756;0.123;0.641	P;B;B;B	0.52793	0.709;0.064;0.096;0.102	T	0.28870	-1.0030	10	0.16420	T	0.52	-16.4982	14.2329	0.65906	0.0:0.0:1.0:0.0	.	119;76;142;119	Q08623-3;Q08623-2;E9PAV8;Q08623	.;.;.;HDHD1_HUMAN	L	119;135;76;142;119;119	ENSP00000370467:S119L;ENSP00000406260:S76L;ENSP00000396452:S142L;ENSP00000441208:S119L;ENSP00000430995:S119L	ENSP00000370467:S119L	S	-	2	0	HDHD1	7005415	1.000000	0.71417	0.002000	0.10522	0.004000	0.04260	7.957000	0.87870	1.713000	0.51359	0.513000	0.50165	TCG	HDHD1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3		0.587	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	G	NM_012080		6995415	-1	no_errors	ENST00000424830	ensembl	human	known	70_37	missense	SNP	0.413	A
HFM1	164045	genome.wustl.edu	37	1	91859873	91859873	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:91859873G>A	ENST00000370425.3	-	4	369	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	91					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AAGGCAAACTGGAATTTTTGT	0.313																																																	0													71.0	67.0	69.0					1																	91859873		2202	4298	6500	SO:0001587	stop_gained	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.271C>T	1.37:g.91859873G>A	ENSP00000359454:p.Gln91*		B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q91*	ENST00000370425.3	37	c.271	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	7.063	0.566694	0.13560	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000427444;ENST00000455133	.	.	.	4.37	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.26463	N	0.975411	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	.	7.0787	0.25219	0.0:0.1695:0.4809:0.3496	.	.	.	.	X	91;124;49;91	.	ENSP00000359454:Q91X	Q	-	1	0	HFM1	91632461	0.886000	0.30341	0.045000	0.18777	0.018000	0.09664	0.656000	0.24948	0.053000	0.16036	-0.470000	0.05040	CAG	HFM1	-	NULL		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91859873	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	nonsense	SNP	0.303	A
HMGB1P5	10354	genome.wustl.edu	37	3	22424366	22424366	+	RNA	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr3:22424366G>T	ENST00000451497.1	+	0	931									high mobility group box 1 pseudogene 5																		CTGTTTTGTTGACATTCTGAA	0.333																																																	0																																												10354			AF076677		3p24	2011-09-21	2011-04-05	2010-10-15	ENSG00000132967	ENSG00000132967		"""High mobility group / HMG-box pseudogenes"""	4997	pseudogene	pseudogene			"""high-mobility group (nonhistone chromosomal) protein 1-like 5"", ""high-mobility group (nonhistone chromosomal) protein 1-like 5 pseudogene"", ""high-mobility group box 1-like 5 pseudogene"", ""high-mobility group box 1-like 15"", ""high-mobility group box 1 pseudogene 2"", ""high-mobility group box 1-like 5"", ""high-mobility group box 1 pseudogene 5"""	HMG1L5, HMGB1L15, HMGB1P2, HMGB1L5		9925949	Standard	NG_000897		Approved				OTTHUMG00000155591		3.37:g.22424366G>T				RNA	SNP	-	NULL	ENST00000451497.1	37	NULL		3																																																																																			HMGB1P5	-	-		0.333	HMGB1P5-002	KNOWN	basic	processed_transcript	HMGB1P5	HGNC	pseudogene	OTTHUMT00000340803.1	G	NG_000897		22424366	+1	no_errors	ENST00000451497	ensembl	human	known	70_37	rna	SNP	1.000	T
IFNG	3458	genome.wustl.edu	37	12	68553365	68553365	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr12:68553365G>C	ENST00000229135.3	-	1	162	c.31C>G	c.(31-33)Cag>Gag	p.Q11E	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	11					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	ATGCAGAGCTGAAAAGCCAAG	0.363																																																	0													41.0	38.0	39.0					12																	68553365		2203	4299	6502	SO:0001583	missense	3458				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.31C>G	12.37:g.68553365G>C	ENSP00000229135:p.Gln11Glu		B5BU88|Q53ZV4	Missense_Mutation	SNP	pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma	p.Q11E	ENST00000229135.3	37	c.31	CCDS8980.1	12	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098012	0.37048	.	.	ENSG00000111537	ENST00000229135	T	0.32515	1.45	5.12	5.12	0.69794	.	0.793470	0.11748	N	0.533297	T	0.52435	0.1734	M	0.83118	2.625	0.26246	N	0.978797	D	0.63880	0.993	P	0.53689	0.732	T	0.50474	-0.8824	9	.	.	.	8.5897	14.7871	0.69810	0.0:0.0:1.0:0.0	.	11	P01579	IFNG_HUMAN	E	11	ENSP00000229135:Q11E	.	Q	-	1	0	IFNG	66839632	0.997000	0.39634	0.365000	0.25901	0.021000	0.10359	1.740000	0.38228	2.779000	0.95612	0.491000	0.48974	CAG	IFNG	-	pirsf_Interferon_gamma		0.363	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNG	HGNC	protein_coding	OTTHUMT00000402301.1	G			68553365	-1	no_errors	ENST00000229135	ensembl	human	known	70_37	missense	SNP	0.715	C
KCNT2	343450	genome.wustl.edu	37	1	196295846	196295846	+	Splice_Site	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:196295846C>T	ENST00000294725.9	-	19	3192		c.e19+1		KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site|KCNT2_ENST00000367433.5_Splice_Site|KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367431.4_Splice_Site			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2						potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATATACTTACGGGTTATCCA	0.279																																																	0													49.0	50.0	49.0					1																	196295846		2202	4293	6495	SO:0001630	splice_region_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2276+1G>A	1.37:g.196295846C>T			Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	-	e19+1	ENST00000294725.9	37	c.2276+1	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.784721	0.90282	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000451324;ENST00000294725	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2671	0.93993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KCNT2	194562469	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.608000	0.88229	0.650000	0.86243	.	KCNT2	-	-		0.279	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	C	NM_198503	Intron	196295846	-1	no_errors	ENST00000294725	ensembl	human	known	70_37	splice_site	SNP	1.000	T
KHDC1	80759	genome.wustl.edu	37	6	73951257	73951257	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:73951257G>A	ENST00000370384.3	-	5	1209	c.709C>T	c.(709-711)Ccg>Tcg	p.P237S	KHDC1_ENST00000257765.5_Missense_Mutation_p.P164S|RP11-257K9.8_ENST00000423730.3_Intron	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	237						integral component of membrane (GO:0016021)	RNA binding (GO:0003723)			large_intestine(1)|lung(4)|skin(1)	6						CTTAATTACGGATACAGTGAA	0.468																																																	0													92.0	93.0	93.0					6																	73951257		1921	4108	6029	SO:0001583	missense	80759				CCDS43480.1, CCDS59027.1	6q13	2014-05-15	2007-11-13	2007-11-13	ENSG00000135314	ENSG00000135314			21366	protein-coding gene	gene with protein product		611688	"""chromosome 6 open reading frame 148"""	C6orf148		17913455	Standard	NM_030568		Approved	MGC10818, bA257K9.4, NDG1	uc003pgn.4	Q4VXA5	OTTHUMG00000015030	ENST00000370384.3:c.709C>T	6.37:g.73951257G>A	ENSP00000359411:p.Pro237Ser		Q5JSQ7|Q8WTV2|Q96NQ5	Missense_Mutation	SNP	NULL	p.P164S	ENST00000370384.3	37	c.490	CCDS59027.1	6	.	.	.	.	.	.	.	.	.	.	G	12.21	1.870745	0.33069	.	.	ENSG00000135314	ENST00000257765;ENST00000370384	T	0.36157	1.27	1.99	-1.33	0.09172	.	.	.	.	.	T	0.05777	0.0151	N	0.08118	0	0.09310	N	1	B	0.20459	0.045	B	0.08055	0.003	T	0.36163	-0.9759	9	0.87932	D	0	.	5.3439	0.15998	0.5958:0.0:0.4042:0.0	.	237	Q4VXA5	KHDC1_HUMAN	S	164;237	ENSP00000359411:P237S	ENSP00000257765:P164S	P	-	1	0	KHDC1	74007978	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.716000	0.04991	-0.407000	0.07576	-0.367000	0.07326	CCG	KHDC1	-	NULL		0.468	KHDC1-005	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	KHDC1	HGNC	protein_coding	OTTHUMT00000148103.2	G	NM_030568		73951257	-1	no_errors	ENST00000257765	ensembl	human	known	70_37	missense	SNP	0.000	A
KIF4A	24137	genome.wustl.edu	37	X	69615617	69615617	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:69615617G>T	ENST00000374403.3	+	21	2411	c.2329G>T	c.(2329-2331)Gat>Tat	p.D777Y	RNY4P23_ENST00000364507.1_RNA|KIF4A_ENST00000374388.3_Missense_Mutation_p.D777Y	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	777	Interaction with PRC1.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.D777H(1)		breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTGGCTCAAGATGTGGCTCA	0.433																																																	1	Substitution - Missense(1)	breast(1)											69.0	63.0	65.0					X																	69615617		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.2329G>T	X.37:g.69615617G>T	ENSP00000363524:p.Asp777Tyr		B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D777Y	ENST00000374403.3	37	c.2329	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	g	22.7	4.328832	0.81690	.	.	ENSG00000090889	ENST00000374388;ENST00000374403;ENST00000544650	T;T	0.70631	-0.5;-0.45	5.3	5.3	0.74995	.	0.090322	0.48286	D	0.000193	T	0.78622	0.4312	L	0.54323	1.7	0.53005	D	0.999965	D	0.62365	0.991	P	0.59643	0.861	T	0.77525	-0.2555	9	.	.	.	.	16.9292	0.86186	0.0:0.0:1.0:0.0	.	777	O95239	KIF4A_HUMAN	Y	777;777;79	ENSP00000363509:D777Y;ENSP00000363524:D777Y	.	D	+	1	0	KIF4A	69532342	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.822000	0.92013	2.464000	0.83262	0.591000	0.81541	GAT	KIF4A	-	NULL		0.433	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69615617	+1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	T
KIFC3	3801	genome.wustl.edu	37	16	57795349	57795349	+	Silent	SNP	C	C	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr16:57795349C>A	ENST00000379655.4	-	14	2105	c.1848G>T	c.(1846-1848)gtG>gtT	p.V616V	KIFC3_ENST00000562903.1_Silent_p.V477V|KIFC3_ENST00000465878.2_Silent_p.V477V|KIFC3_ENST00000421376.2_Silent_p.V477V|KIFC3_ENST00000540079.2_Silent_p.V514V|KIFC3_ENST00000445690.2_Silent_p.V616V|KIFC3_ENST00000539578.1_Silent_p.V558V|KIFC3_ENST00000541240.1_Silent_p.V638V|KIFC3_ENST00000543930.1_Silent_p.V474V	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	616	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|epithelial cell-cell adhesion (GO:0090136)|Golgi organization (GO:0007030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|visual perception (GO:0007601)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|zonula adherens (GO:0005915)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CCACGCTCTGCACTTGGAACT	0.582																																																	0													129.0	112.0	118.0					16																	57795349		2198	4300	6498	SO:0001819	synonymous_variant	3801			BC001211	CCDS10789.2, CCDS45493.1, CCDS45494.1	16q13-q21	2008-02-05			ENSG00000140859	ENSG00000140859		"""Kinesins"""	6326	protein-coding gene	gene with protein product		604535				9782090	Standard	NM_001130099		Approved		uc002emp.3	Q9BVG8	OTTHUMG00000133455	ENST00000379655.4:c.1848G>T	16.37:g.57795349C>A			A8K6S2|B7Z484|O75299|Q49A29|Q49AQ0|Q59G19|Q8IUT3|Q96HW6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V616	ENST00000379655.4	37	c.1848	CCDS10789.2	16																																																																																			KIFC3	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.582	KIFC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIFC3	HGNC	protein_coding	OTTHUMT00000257329.2	C	NM_005550		57795349	-1	no_errors	ENST00000379655	ensembl	human	known	70_37	silent	SNP	1.000	A
KSR2	283455	genome.wustl.edu	37	12	118298123	118298123	+	Silent	SNP	G	G	A	rs55997942	byFrequency	TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr12:118298123G>A	ENST00000339824.5	-	2	1021	c.294C>T	c.(292-294)atC>atT	p.I98I	KSR2_ENST00000425217.1_Silent_p.I69I			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	98					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACATCGACGATTCGGAACC	0.632													G|||	3	0.000599042	0.0	0.0014	5008	,	,		19481	0.002		0.0	False		,,,				2504	0.0																0													61.0	65.0	64.0					12																	118298123		1568	3582	5150	SO:0001819	synonymous_variant	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.294C>T	12.37:g.118298123G>A			A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.I98	ENST00000339824.5	37	c.294		12																																																																																			KSR2	-	NULL		0.632	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	G	NM_173598		118298123	-1	no_errors	ENST00000339824	ensembl	human	known	70_37	silent	SNP	1.000	A
LAMC2	3918	genome.wustl.edu	37	1	183177044	183177044	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:183177044G>C	ENST00000264144.4	+	2	173	c.108G>C	c.(106-108)caG>caC	p.Q36H	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q36H	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	36	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGTCCAGGCAGTGTATCTTTG	0.448																																																	0													161.0	155.0	157.0					1																	183177044		2203	4300	6503	SO:0001583	missense	3918			Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.108G>C	1.37:g.183177044G>C	ENSP00000264144:p.Gln36His		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_B_type_IV,superfamily_Growth_fac_rcpt,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin	p.Q36H	ENST00000264144.4	37	c.108	CCDS1352.1	1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888554	0.33348	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.62105	0.05;0.05	4.81	-3.86	0.04230	EGF-like, laminin (3);Growth factor, receptor (1);	0.269981	0.31554	N	0.007455	T	0.72732	0.3497	M	0.67625	2.065	0.44956	D	0.997972	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.98	T	0.72956	-0.4134	10	0.72032	D	0.01	.	15.2938	0.73888	0.3277:0.0:0.6723:0.0	.	36;36	Q13753;Q13753-2	LAMC2_HUMAN;.	H	36	ENSP00000432063:Q36H;ENSP00000264144:Q36H	ENSP00000264144:Q36H	Q	+	3	2	LAMC2	181443667	1.000000	0.71417	0.172000	0.22920	0.069000	0.16628	1.096000	0.30976	-1.198000	0.02669	-0.229000	0.12294	CAG	LAMC2	-	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EGF_laminin		0.448	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC2	HGNC	protein_coding	OTTHUMT00000086258.1	G	NM_005562		183177044	+1	no_errors	ENST00000264144	ensembl	human	known	70_37	missense	SNP	0.996	C
LONP2	83752	genome.wustl.edu	37	16	48385539	48385539	+	Silent	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr16:48385539G>A	ENST00000285737.4	+	15	2478	c.2385G>A	c.(2383-2385)ctG>ctA	p.L795L	LONP2_ENST00000564259.1_3'UTR|LONP2_ENST00000535754.1_Silent_p.L751L	NM_031490.2	NP_113678.2			lon peptidase 2, peroxisomal											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAGCGGGACTGAAGCAAGTCA	0.458																																																	0													72.0	74.0	73.0					16																	48385539		2200	4300	6500	SO:0001819	synonymous_variant	83752			AJ548761	CCDS10734.1, CCDS73880.1	16q12.1	2010-04-21			ENSG00000102910	ENSG00000102910		"""ATPases / AAA-type"""	20598	protein-coding gene	gene with protein product						14561759	Standard	XM_005256191		Approved	MGC4840, LONP, LONPL	uc002efi.1	Q86WA8	OTTHUMG00000133144	ENST00000285737.4:c.2385G>A	16.37:g.48385539G>A				Silent	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.L795	ENST00000285737.4	37	c.2385	CCDS10734.1	16																																																																																			LONP2	-	pfam_Pept_S16_C,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Pept_S16_lon		0.458	LONP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONP2	HGNC	protein_coding	OTTHUMT00000256839.2	G	NM_031490		48385539	+1	no_errors	ENST00000285737	ensembl	human	known	70_37	silent	SNP	1.000	A
LONRF1	91694	genome.wustl.edu	37	8	12594605	12594605	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr8:12594605G>T	ENST00000398246.3	-	5	1227	c.1158C>A	c.(1156-1158)agC>agA	p.S386R	LONRF1_ENST00000533751.1_Missense_Mutation_p.S29R|LONRF1_ENST00000530693.1_5'Flank	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	386							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CACGGTTTAAGCTTCCTTTGA	0.393																																																	0													81.0	75.0	77.0					8																	12594605		1841	4091	5932	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1158C>A	8.37:g.12594605G>T	ENSP00000381298:p.Ser386Arg		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.S386R	ENST00000398246.3	37	c.1158	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464159	0.26335	.	.	ENSG00000154359	ENST00000398246;ENST00000533751	T;D	0.81739	0.96;-1.53	5.2	3.42	0.39159	.	0.483231	0.14043	U	0.345303	T	0.66781	0.2824	N	0.24115	0.695	0.45676	D	0.998599	B	0.23128	0.08	B	0.17098	0.017	T	0.58137	-0.7689	10	0.31617	T	0.26	-6.2928	9.0667	0.36467	0.3467:0.0:0.6533:0.0	.	386	Q17RB8	LONF1_HUMAN	R	386;29	ENSP00000381298:S386R;ENSP00000432130:S29R	ENSP00000381298:S386R	S	-	3	2	LONRF1	12638976	0.615000	0.27026	0.996000	0.52242	0.995000	0.86356	0.757000	0.26433	0.860000	0.35481	-0.137000	0.14449	AGC	LONRF1	-	NULL		0.393	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	G	NM_152271		12594605	-1	no_errors	ENST00000398246	ensembl	human	known	70_37	missense	SNP	0.992	T
MAML2	84441	genome.wustl.edu	37	11	95826265	95826265	+	Silent	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:95826265G>A	ENST00000524717.1	-	2	2214	c.930C>T	c.(928-930)ttC>ttT	p.F310F		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	310					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TCAGTTCATTGAACAGTTCCT	0.453			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0													153.0	147.0	149.0					11																	95826265		2055	4206	6261	SO:0001819	synonymous_variant	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.930C>T	11.37:g.95826265G>A			A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.F310	ENST00000524717.1	37	c.930	CCDS44714.1	11																																																																																			MAML2	-	NULL		0.453	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	HGNC	protein_coding	OTTHUMT00000395540.1	G			95826265	-1	no_errors	ENST00000440572	ensembl	human	known	70_37	silent	SNP	1.000	A
NKX2-2	4821	genome.wustl.edu	37	20	21492910	21492910	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr20:21492910C>T	ENST00000377142.4	-	2	829	c.473G>A	c.(472-474)cGc>cAc	p.R158H	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	158					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CAGGTGTTCGCGCTCGGGCGC	0.652																																																	0													30.0	32.0	31.0					20																	21492910		2202	4300	6502	SO:0001583	missense	4821			AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.473G>A	20.37:g.21492910C>T	ENSP00000366347:p.Arg158His			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R158H	ENST00000377142.4	37	c.473	CCDS13145.1	20	.	.	.	.	.	.	.	.	.	.	C	31	5.100426	0.94245	.	.	ENSG00000125820	ENST00000377142	D	0.97505	-4.41	4.98	4.98	0.66077	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98768	1.0727	10	0.87932	D	0	.	17.8583	0.88773	0.0:1.0:0.0:0.0	.	158	O95096	NKX22_HUMAN	H	158	ENSP00000366347:R158H	ENSP00000366347:R158H	R	-	2	0	NKX2-2	21440910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.045000	0.71020	2.291000	0.77112	0.462000	0.41574	CGC	NKX2-2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa		0.652	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKX2-2	HGNC	protein_coding	OTTHUMT00000078278.9	C			21492910	-1	no_errors	ENST00000377142	ensembl	human	known	70_37	missense	SNP	1.000	T
NSDHL	50814	genome.wustl.edu	37	X	152018902	152018902	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:152018902G>C	ENST00000370274.3	+	3	396	c.202G>C	c.(202-204)Gat>Cat	p.D68H	NSDHL_ENST00000440023.1_Missense_Mutation_p.D68H	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	68					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CAATGTATTTGATATCCAGCA	0.532																																																	0													235.0	216.0	222.0					X																	152018902		2203	4300	6503	SO:0001583	missense	50814			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.202G>C	X.37:g.152018902G>C	ENSP00000359297:p.Asp68His		D3DWT6|O00344	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA	p.D68H	ENST00000370274.3	37	c.202	CCDS14717.1	X	.	.	.	.	.	.	.	.	.	.	g	16.85	3.237067	0.58886	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.90620	-2.7;-2.7;-2.7	5.51	5.51	0.81932	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.043704	0.85682	D	0.000000	D	0.96741	0.8936	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.97882	1.0292	10	0.87932	D	0	-15.9848	15.7447	0.77929	0.0:0.0:1.0:0.0	.	68	Q15738	NSDHL_HUMAN	H	68	ENSP00000359297:D68H;ENSP00000391854:D68H;ENSP00000396266:D68H	ENSP00000359297:D68H	D	+	1	0	NSDHL	151769558	1.000000	0.71417	0.045000	0.18777	0.217000	0.24651	9.167000	0.94773	2.316000	0.78162	0.534000	0.68092	GAT	NSDHL	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Polysac_CapD-like,pfam_NmrA		0.532	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSDHL	HGNC	protein_coding	OTTHUMT00000060927.1	G	NM_015922		152018902	+1	no_errors	ENST00000370274	ensembl	human	known	70_37	missense	SNP	1.000	C
OR2G2	81470	genome.wustl.edu	37	1	247752483	247752483	+	Silent	SNP	C	C	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:247752483C>A	ENST00000320065.1	+	1	822	c.822C>A	c.(820-822)ggC>ggA	p.G274G	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	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)			GGGACCAGGGCAAGTTTGTTT	0.473																																																	0													142.0	137.0	139.0					1																	247752483		2203	4300	6503	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.822C>A	1.37:g.247752483C>A			Q5JQT2|Q6IEZ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G274	ENST00000320065.1	37	c.822	CCDS31092.1	1																																																																																			OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	C			247752483	+1	no_errors	ENST00000320065	ensembl	human	known	70_37	silent	SNP	0.003	A
PCDHA1	56147	genome.wustl.edu	37	5	140165938	140165938	+	Silent	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr5:140165938C>T	ENST00000504120.2	+	1	63	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHA1_ENST00000394633.3_Silent_p.L21L|PCDHA1_ENST00000378133.3_Silent_p.L21L	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	21					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCTCCTCGCAGCCTGGG	0.597																																																	0													54.0	67.0	63.0					5																	140165938		2203	4300	6503	SO:0001819	synonymous_variant	56147			AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.63C>T	5.37:g.140165938C>T			O75288|Q9NRT7	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L21	ENST00000504120.2	37	c.63	CCDS54913.1	5																																																																																			PCDHA1	-	NULL		0.597	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHA1	HGNC	protein_coding	OTTHUMT00000389127.1	C	NM_018900		140165938	+1	no_errors	ENST00000504120	ensembl	human	known	70_37	silent	SNP	0.000	T
PIK3CG	5294	genome.wustl.edu	37	7	106508173	106508173	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:106508173C>T	ENST00000359195.3	+	2	477	c.167C>T	c.(166-168)aCg>aTg	p.T56M	PIK3CG_ENST00000496166.1_Missense_Mutation_p.T56M|PIK3CG_ENST00000440650.2_Missense_Mutation_p.T56M	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	56	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCCCCGAAACGGCGCTGCTG	0.667																																																	0													28.0	33.0	31.0					7																	106508173		2200	4298	6498	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.167C>T	7.37:g.106508173C>T	ENSP00000352121:p.Thr56Met		A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.T56M	ENST00000359195.3	37	c.167	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	C	8.071	0.770247	0.15983	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70631	-0.5;-0.5;-0.5	5.54	4.66	0.58398	.	0.000000	0.51477	D	0.000095	T	0.58836	0.2150	L	0.33485	1.01	0.30911	N	0.729082	B	0.12630	0.006	B	0.08055	0.003	T	0.59075	-0.7522	10	0.37606	T	0.19	-8.6608	11.9961	0.53204	0.0:0.8543:0.0:0.1457	.	56	P48736	PK3CG_HUMAN	M	56	ENSP00000392258:T56M;ENSP00000419260:T56M;ENSP00000352121:T56M	ENSP00000352121:T56M	T	+	2	0	PIK3CG	106295409	0.087000	0.21565	0.223000	0.23860	0.890000	0.51754	0.676000	0.25247	1.468000	0.48064	0.563000	0.77884	ACG	PIK3CG	-	NULL		0.667	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	HGNC	protein_coding	OTTHUMT00000349294.1	C			106508173	+1	no_errors	ENST00000359195	ensembl	human	known	70_37	missense	SNP	0.380	T
PKD2L1	9033	genome.wustl.edu	37	10	102051081	102051081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr10:102051081G>A	ENST00000318222.3	-	12	2366	c.1984C>T	c.(1984-1986)Cga>Tga	p.R662*	PKD2L1_ENST00000338519.3_Nonsense_Mutation_p.R587*|PKD2L1_ENST00000353274.3_Nonsense_Mutation_p.R662*	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	662	EF-hand.				cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGGTCCTGTCGCATTTTTTCC	0.522																																																	0													244.0	196.0	212.0					10																	102051081		2203	4300	6503	SO:0001587	stop_gained	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1984C>T	10.37:g.102051081G>A	ENSP00000325296:p.Arg662*		O75972|Q5W039|Q9UP35|Q9UPA2	Nonsense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.R662*	ENST00000318222.3	37	c.1984	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	G	37	6.203795	0.97371	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	.	.	.	5.82	2.91	0.33838	.	0.645425	0.15966	N	0.236019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.17	8.5006	0.33156	0.0723:0.0:0.4127:0.515	.	.	.	.	X	587;662;662;660	.	ENSP00000325296:R662X	R	-	1	2	PKD2L1	102041071	0.998000	0.40836	0.085000	0.20634	0.042000	0.13812	2.645000	0.46621	0.345000	0.23873	-0.136000	0.14681	CGA	PKD2L1	-	NULL		0.522	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	G	NM_016112		102051081	-1	no_errors	ENST00000318222	ensembl	human	known	70_37	nonsense	SNP	0.876	A
PKHD1	5314	genome.wustl.edu	37	6	51732836	51732836	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:51732836G>T	ENST00000371117.3	-	48	7833	c.7558C>A	c.(7558-7560)Cat>Aat	p.H2520N	PKHD1_ENST00000340994.4_Missense_Mutation_p.H2520N	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2520					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.H2520Y(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATTGCTGCATGAGGAAATGGA	0.383																																																	1	Substitution - Missense(1)	ovary(1)											72.0	69.0	70.0					6																	51732836		2203	4299	6502	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7558C>A	6.37:g.51732836G>T	ENSP00000360158:p.His2520Asn		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.H2520N	ENST00000371117.3	37	c.7558	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495752	0.64186	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.90069	-2.43;-2.61	5.67	4.8	0.61643	.	0.068571	0.64402	D	0.000011	D	0.93077	0.7796	M	0.82630	2.6	0.34380	D	0.693021	D;D;D	0.89917	0.996;1.0;1.0	D;D;D	0.85130	0.951;0.997;0.963	D	0.94370	0.7595	10	0.72032	D	0.01	.	13.8751	0.63648	0.0732:0.0:0.9268:0.0	.	2520;2520;2520	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	N	2520	ENSP00000360158:H2520N;ENSP00000341097:H2520N	ENSP00000341097:H2520N	H	-	1	0	PKHD1	51840795	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.758000	0.62220	1.402000	0.46780	0.591000	0.81541	CAT	PKHD1	-	NULL		0.383	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	G	NM_138694		51732836	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	1.000	T
PKHD1	5314	genome.wustl.edu	37	6	51799070	51799070	+	Missense_Mutation	SNP	C	C	T	rs375949362		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr6:51799070C>T	ENST00000371117.3	-	37	6234	c.5959G>A	c.(5959-5961)Gcc>Acc	p.A1987T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1987T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1987	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A1987T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAAGGATGGCGTGTGCCCTG	0.542											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)						C	THR/ALA,THR/ALA	0,4406		0,0,2203	113.0	105.0	108.0		5959,5959	-0.9	0.1	6		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1987/4075,1987/3397	51799070	1,13005	2203	4300	6503	SO:0001583	missense	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5959G>A	6.37:g.51799070C>T	ENSP00000360158:p.Ala1987Thr	980	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1	p.A1987T	ENST00000371117.3	37	c.5959	CCDS4935.1	6	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378129	0.24944	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89050	-2.46;-2.46	5.59	-0.93	0.10441	G8 domain (2);	0.848896	0.10708	N	0.643186	T	0.65770	0.2723	L	0.34521	1.04	0.09310	N	1	P;P;P	0.45474	0.859;0.714;0.529	B;B;B	0.35655	0.207;0.08;0.102	T	0.57271	-0.7840	10	0.29301	T	0.29	.	10.5006	0.44804	0.3684:0.5613:0.0703:0.0	.	1987;1987;1987	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	1987	ENSP00000360158:A1987T;ENSP00000341097:A1987T	ENSP00000341097:A1987T	A	-	1	0	PKHD1	51907029	0.035000	0.19736	0.057000	0.19452	0.924000	0.55760	0.083000	0.14871	-0.165000	0.10908	0.655000	0.94253	GCC	PKHD1	-	pfam_G8_domain		0.542	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKHD1	HGNC	protein_coding	OTTHUMT00000040893.1	C	NM_138694		51799070	-1	no_errors	ENST00000371117	ensembl	human	known	70_37	missense	SNP	0.076	T
PLXNA2	5362	genome.wustl.edu	37	1	208199993	208199994	+	3'UTR	INS	-	-	TC	rs148574660		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:208199993_208199994insTC	ENST00000367033.3	-	0	7036_7037				PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2						axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		cttctcctctttctcttttttt	0.406																																																	0																																										SO:0001624	3_prime_UTR_variant	5362			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.*595->GA	1.37:g.208199996_208199997dupTC			A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	RNA	INS	-	NULL	ENST00000367033.3	37	NULL	CCDS31013.1	1																																																																																			PLXNA2	-	-		0.406	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	-	NM_025179		208199994	-1	no_errors	ENST00000483048	ensembl	human	known	70_37	rna	INS	0.000:0.000	TC
POLM	27434	genome.wustl.edu	37	7	44113615	44113615	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:44113615delG	ENST00000242248.5	-	9	1182	c.1081delC	c.(1081-1083)ctgfs	p.L361fs	POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_Frame_Shift_Del_p.L324fs|POLM_ENST00000395831.3_Frame_Shift_Del_p.L281fs	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	361					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TGGTGGTACAGGATGAGGCCC	0.627								DNA polymerases (catalytic subunits)																																									0													39.0	41.0	41.0					7																	44113615		2203	4300	6503	SO:0001589	frameshift_variant	27434			AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.1081delC	7.37:g.44113615delG	ENSP00000242248:p.Leu361fs		D3DVK4|Q6P5X8|Q86WQ9	Frame_Shift_Del	DEL	pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like	p.L361fs	ENST00000242248.5	37	c.1081	CCDS34625.1	7																																																																																			POLM	-	smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase		0.627	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLM	HGNC	protein_coding	OTTHUMT00000339594.1	G	NM_013284		44113615	-1	no_errors	ENST00000242248	ensembl	human	known	70_37	frame_shift_del	DEL	0.999	-
POU6F2	11281	genome.wustl.edu	37	7	39472873	39472873	+	Silent	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:39472873C>T	ENST00000403058.1	+	8	1378	c.1224C>T	c.(1222-1224)ccC>ccT	p.P408P	POU6F2_ENST00000518318.2_Silent_p.P408P|POU6F2_ENST00000559001.1_Silent_p.P353P	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	408	Gln-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCATCAAGCCCGGCCAGCAGG	0.542																																																	0													79.0	62.0	68.0					7																	39472873		2203	4300	6503	SO:0001819	synonymous_variant	11281			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1224C>T	7.37:g.39472873C>T			A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.P408	ENST00000403058.1	37	c.1224	CCDS34620.2	7																																																																																			POU6F2	-	NULL		0.542	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3	C	NM_007252		39472873	+1	no_errors	ENST00000403058	ensembl	human	known	70_37	silent	SNP	0.991	T
RBM25	58517	genome.wustl.edu	37	14	73572954	73572954	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr14:73572954G>T	ENST00000261973.7	+	12	1713	c.1428G>T	c.(1426-1428)gaG>gaT	p.E476D	RBM25_ENST00000527432.1_Missense_Mutation_p.E476D	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	476	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GGGAATATGAGAAAGAAGCTG	0.303																																																	0													31.0	35.0	33.0					14																	73572954		2171	4265	6436	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1428G>T	14.37:g.73572954G>T	ENSP00000261973:p.Glu476Asp		A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.E476D	ENST00000261973.7	37	c.1428	CCDS32113.1	14	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475213	0.26511	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.29655	1.56;1.56	5.77	2.88	0.33553	.	0.259072	0.45867	D	0.000326	T	0.20659	0.0497	L	0.41124	1.26	0.80722	D	1	B	0.29037	0.231	B	0.21917	0.037	T	0.05022	-1.0911	10	0.30078	T	0.28	.	7.5143	0.27592	0.4484:0.0:0.5516:0.0	.	476	P49756	RBM25_HUMAN	D	476	ENSP00000261973:E476D;ENSP00000431150:E476D	ENSP00000261973:E476D	E	+	3	2	RBM25	72642707	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.667000	0.25112	0.329000	0.23460	-0.142000	0.14014	GAG	RBM25	-	NULL		0.303	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	G	XM_027330		73572954	+1	no_errors	ENST00000261973	ensembl	human	known	70_37	missense	SNP	0.997	T
SCARF1	8578	genome.wustl.edu	37	17	1543025	1543025	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr17:1543025G>C	ENST00000263071.4	-	7	1200	c.1151C>G	c.(1150-1152)tCc>tGc	p.S384C	SCARF1_ENST00000348987.3_Intron|SCARF1_ENST00000571272.1_Missense_Mutation_p.S384C|SCARF1_ENST00000574545.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	384					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCTGGGCAGGAGGCGTTGCA	0.612																																																	0													49.0	42.0	44.0					17																	1543025		2202	4299	6501	SO:0001583	missense	8578			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1151C>G	17.37:g.1543025G>C	ENSP00000263071:p.Ser384Cys		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.S384C	ENST00000263071.4	37	c.1151	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	13.07	2.128300	0.37533	.	.	ENSG00000074660	ENST00000263071;ENST00000434376	T	0.33865	1.39	5.5	5.5	0.81552	Growth factor, receptor (1);	0.000000	0.44097	D	0.000490	T	0.65575	0.2704	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71184	0.972;0.936	T	0.71846	-0.4469	10	0.66056	D	0.02	-25.01	15.3824	0.74669	0.0:0.1398:0.8602:0.0	.	384;384	Q14162;Q14162-3	SREC_HUMAN;.	C	384	ENSP00000263071:S384C	ENSP00000263071:S384C	S	-	2	0	SCARF1	1489775	1.000000	0.71417	0.970000	0.41538	0.041000	0.13682	3.216000	0.51176	2.573000	0.86826	0.561000	0.74099	TCC	SCARF1	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom		0.612	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	G	NM_003693		1543025	-1	no_errors	ENST00000263071	ensembl	human	known	70_37	missense	SNP	0.999	C
SERPINB11	89778	genome.wustl.edu	37	18	61390407	61390407	+	RNA	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr18:61390407C>T	ENST00000382749.5	+	0	1198				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000538847.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCTGATCTTTCTGGAATGTCA	0.478																																					Ovarian(27;496 784 5942 8975 23930)												0													43.0	43.0	43.0					18																	61390407		2162	4276	6438			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61390407C>T			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S143F	ENST00000382749.5	37	c.428		18	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436571	0.83885	.	.	ENSG00000206072	ENST00000544088;ENST00000538847;ENST00000536691	D;T;D	0.86366	-2.11;2.34;-2.11	5.05	5.05	0.67936	Serpin domain (3);	0.000000	0.53938	D	0.000043	D	0.96510	0.8861	H	0.98769	4.325	0.37083	D	0.899082	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.988;0.988;0.999	D	0.99947	1.1487	10	0.87932	D	0	.	17.7553	0.88446	0.0:1.0:0.0:0.0	.	143;116;231;318	F5GWT8;F5GY69;Q96P15-2;Q96P15	.;.;.;SPB11_HUMAN	F	318;116;143	ENSP00000441497:S318F;ENSP00000440795:S116F;ENSP00000441708:S143F	ENSP00000421854:S318F	S	+	2	0	SERPINB11	59541387	1.000000	0.71417	0.997000	0.53966	0.842000	0.47809	5.757000	0.68766	2.488000	0.83962	0.655000	0.94253	TCT	SERPINB11	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.478	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	SERPINB11	HGNC	polymorphic_pseudogene	OTTHUMT00000207392.3	C	NM_080475		61390407	+1	no_errors	ENST00000536691	ensembl	human	known	70_37	missense	SNP	1.000	T
SFMBT1	51460	genome.wustl.edu	37	3	53003241	53003241	+	5'UTR	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr3:53003241G>A	ENST00000394752.3	-	0	286				SFMBT1_ENST00000296295.6_5'UTR|SFMBT1_ENST00000470575.1_5'UTR|SFMBT1_ENST00000394750.1_5'UTR|SFMBT1_ENST00000358080.2_5'UTR	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1						cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TCAAGCATCTGTTCAATGGGT	0.428																																																	0																																										SO:0001623	5_prime_UTR_variant	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.-97C>T	3.37:g.53003241G>A			Q402F7|Q96C73|Q9Y4Q9	RNA	SNP	-	NULL	ENST00000394752.3	37	NULL	CCDS2867.1	3																																																																																			SFMBT1	-	-		0.428	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFMBT1	HGNC	protein_coding	OTTHUMT00000353040.3	G	NM_016329		53003241	-1	no_errors	ENST00000470575	ensembl	human	known	70_37	rna	SNP	0.335	A
BMP1	649	genome.wustl.edu	37	8	22021029	22021029	+	5'Flank	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr8:22021029G>T	ENST00000306385.5	+	0	0				SFTPC_ENST00000520605.1_Missense_Mutation_p.E82D|SFTPC_ENST00000524255.1_Missense_Mutation_p.E82D|SFTPC_ENST00000437090.2_Missense_Mutation_p.E135D|SFTPC_ENST00000318561.3_Missense_Mutation_p.E135D|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.E135D|SFTPC_ENST00000521315.1_Missense_Mutation_p.E135D	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCAGTCTTGAGGCTCTCACTA	0.562																																																	0													81.0	83.0	82.0					8																	22021029		1943	4150	6093	SO:0001631	upstream_gene_variant	6440				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021029G>T	Exception_encountered		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom	p.E135D	ENST00000306385.5	37	c.405	CCDS6026.1	8	.	.	.	.	.	.	.	.	.	.	G	14.09	2.431422	0.43122	.	.	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000520605;ENST00000522109;ENST00000524255;ENST00000523296	T;T;T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.3;-1.3;-1.3	5.49	2.36	0.29203	BRICHOS (2);	0.243627	0.29260	N	0.012664	D	0.82623	0.5077	L	0.61036	1.89	0.34111	D	0.663011	B;B;B;D	0.69078	0.02;0.058;0.054;0.997	B;B;B;D	0.79108	0.04;0.055;0.04;0.992	T	0.80571	-0.1323	10	0.09843	T	0.71	-3.0579	5.4741	0.16686	0.0982:0.0:0.4693:0.4325	.	135;135;135;135	E9PGX3;C9JYF6;P11686;E5RI92	.;.;PSPC_HUMAN;.	D	135;135;135;82;135;82;82	ENSP00000316152:E135D;ENSP00000430410:E135D;ENSP00000407931:E135D;ENSP00000430266:E82D;ENSP00000429496:E135D;ENSP00000429552:E82D;ENSP00000429619:E82D	ENSP00000316152:E135D	E	+	3	2	SFTPC	22076974	1.000000	0.71417	0.995000	0.50966	0.707000	0.40811	1.707000	0.37888	0.655000	0.30866	0.655000	0.94253	GAG	SFTPC	-	pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom		0.562	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPC	HGNC	protein_coding	OTTHUMT00000214995.2	G	NM_006132		22021029	+1	no_errors	ENST00000318561	ensembl	human	known	70_37	missense	SNP	0.980	T
BMP1	649	genome.wustl.edu	37	8	22021506	22021506	+	5'Flank	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr8:22021506C>T	ENST00000306385.5	+	0	0				SFTPC_ENST00000520605.1_Intron|SFTPC_ENST00000524255.1_Silent_p.G129G|SFTPC_ENST00000437090.2_3'UTR|SFTPC_ENST00000318561.3_Silent_p.G182G|BMP1_ENST00000397814.3_5'Flank|BMP1_ENST00000397816.3_5'Flank|BMP1_ENST00000306349.8_5'Flank|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000522109.1_3'UTR|SFTPC_ENST00000521315.1_Silent_p.G176G	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CCTTCCTGGGCATGGCCGTGA	0.677																																																	0													46.0	55.0	52.0					8																	22021506		2039	4183	6222	SO:0001631	upstream_gene_variant	6440				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22021506C>T	Exception_encountered		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	pfam_Surfactant_protein_propep,pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom	p.G182	ENST00000306385.5	37	c.546	CCDS6026.1	8																																																																																			SFTPC	-	pfam_BRICHOS_dom,smart_Pulm_surfact_AP,pfscan_BRICHOS_dom		0.677	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPC	HGNC	protein_coding	OTTHUMT00000214995.2	C	NM_006132		22021506	+1	no_errors	ENST00000318561	ensembl	human	known	70_37	silent	SNP	0.843	T
SLC22A10	387775	genome.wustl.edu	37	11	63072233	63072233	+	Silent	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:63072233G>T	ENST00000332793.6	+	9	1472	c.1470G>T	c.(1468-1470)acG>acT	p.T490T	SLC22A10_ENST00000544661.1_3'UTR|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	490						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TGACCTTAACGGTATTTTTTA	0.428																																																	0													170.0	153.0	159.0					11																	63072233		1882	4109	5991	SO:0001819	synonymous_variant	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1470G>T	11.37:g.63072233G>T			Q68CJ0	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T490	ENST00000332793.6	37	c.1470	CCDS41661.1	11																																																																																			SLC22A10	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.428	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	HGNC	protein_coding	OTTHUMT00000382622.3	G	NM_001039752		63072233	+1	no_errors	ENST00000332793	ensembl	human	known	70_37	silent	SNP	0.000	T
SLITRK1	114798	genome.wustl.edu	37	13	84454533	84454533	+	Silent	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr13:84454533C>T	ENST00000377084.2	-	1	1995	c.1110G>A	c.(1108-1110)ttG>ttA	p.L370L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	370	LRRNT 2.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCTTGGGCTTCAAATCAGCCA	0.502																																																	0													88.0	82.0	84.0					13																	84454533		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1110G>A	13.37:g.84454533C>T			Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L370	ENST00000377084.2	37	c.1110	CCDS9464.1	13																																																																																			SLITRK1	-	NULL		0.502	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	C	NM_052910		84454533	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	T
SLITRK3	22865	genome.wustl.edu	37	3	164906468	164906468	+	Silent	SNP	G	G	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr3:164906468G>A	ENST00000475390.1	-	2	2594	c.2151C>T	c.(2149-2151)ggC>ggT	p.G717G	SLITRK3_ENST00000241274.3_Silent_p.G717G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	717	Poly-Gly.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						ccccacttccgccaccaccac	0.572										HNSCC(40;0.11)																																							0													85.0	61.0	69.0					3																	164906468		2203	4300	6503	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2151C>T	3.37:g.164906468G>A			Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G717	ENST00000475390.1	37	c.2151	CCDS3197.1	3																																																																																			SLITRK3	-	NULL		0.572	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	G	NM_014926		164906468	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	silent	SNP	0.570	A
SPTBN2	6712	genome.wustl.edu	37	11	66472250	66472250	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr11:66472250G>T	ENST00000533211.1	-	15	2828	c.2497C>A	c.(2497-2499)Cac>Aac	p.H833N	SPTBN2_ENST00000309996.2_Missense_Mutation_p.H833N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.H833N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	833					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCTCGTAGTGCCGCTCCAGG	0.731																																																	0													10.0	11.0	11.0					11																	66472250		2179	4240	6419	SO:0001583	missense	6712			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.2497C>A	11.37:g.66472250G>T	ENSP00000432568:p.His833Asn		O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.H833N	ENST00000533211.1	37	c.2497	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409037	0.25378	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.48522	0.81;0.81;0.81	4.97	4.02	0.46733	.	0.337248	0.31859	N	0.006942	T	0.33818	0.0876	N	0.20685	0.6	0.39313	D	0.965118	B	0.20052	0.041	B	0.28465	0.09	T	0.11743	-1.0575	10	0.17832	T	0.49	.	13.9547	0.64140	0.0:0.1537:0.8463:0.0	.	833	O15020	SPTN2_HUMAN	N	833	ENSP00000432568:H833N;ENSP00000311489:H833N;ENSP00000433593:H833N	ENSP00000311489:H833N	H	-	1	0	SPTBN2	66228826	0.995000	0.38212	0.995000	0.50966	0.135000	0.20990	2.479000	0.45197	1.242000	0.43836	0.591000	0.81541	CAC	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.731	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	G	NM_006946		66472250	-1	no_errors	ENST00000309996	ensembl	human	known	70_37	missense	SNP	1.000	T
SRPX	8406	genome.wustl.edu	37	X	38031228	38031228	+	Silent	SNP	C	C	T	rs141477282	byFrequency	TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:38031228C>T	ENST00000378533.3	-	4	538	c.432G>A	c.(430-432)gaG>gaA	p.E144E	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Silent_p.E131E|SRPX_ENST00000538295.1_Silent_p.E144E|SRPX_ENST00000432886.2_Intron|SRPX_ENST00000544439.1_Silent_p.E124E	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	144	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				autophagy (GO:0006914)|cell adhesion (GO:0007155)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|phagolysosome assembly (GO:0001845)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|response to endoplasmic reticulum stress (GO:0034976)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						AACAATAATACTCACACCGGG	0.502													C|||	1	0.000264901	0.0	0.0	3775	,	,		15075	0.0		0.001	False		,,,				2504	0.0																0								C	,,,	0,3833		0,0,0,1631,571	118.0	100.0	106.0		372,,432,432	5.0	1.0	X	dbSNP_134	106	9,6719		0,7,2,2421,1870	no	coding-synonymous,intron,coding-synonymous,coding-synonymous	SRPX	NM_001170750.1,NM_001170751.1,NM_001170752.1,NM_006307.4	,,,	0,7,2,4052,2441	TT,TC,T,CC,C		0.1338,0.0,0.0852	,,,	124/445,,144/380,144/465	38031228	9,10552	2202	4300	6502	SO:0001819	synonymous_variant	8406			U78093	CCDS14245.1, CCDS55400.1, CCDS55401.1, CCDS55402.1	Xp21.1	2011-01-25	2011-01-25		ENSG00000101955	ENSG00000101955			11309	protein-coding gene	gene with protein product		300187	"""sushi-repeat-containing protein, X chromosome"", ""sushi-repeat-containing protein, X-linked"""			8634708, 8634709	Standard	NM_006307		Approved	ETX1	uc004ddy.2	P78539	OTTHUMG00000021362	ENST00000378533.3:c.432G>A	X.37:g.38031228C>T			A8K065|B3KWP8|B4DDB8|B4DQH5|F5H4D7|G3V1L0|Q4VX66|Q99652|Q99913	Silent	SNP	pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP	p.E144	ENST00000378533.3	37	c.432	CCDS14245.1	X																																																																																			SRPX	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.502	SRPX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPX	HGNC	protein_coding	OTTHUMT00000056243.1	C	NM_006307		38031228	-1	no_errors	ENST00000378533	ensembl	human	known	70_37	silent	SNP	1.000	T
TBX22	50945	genome.wustl.edu	37	X	79279576	79279576	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:79279576C>T	ENST00000373294.5	+	3	399	c.371C>T	c.(370-372)tCt>tTt	p.S124F	TBX22_ENST00000442340.1_Missense_Mutation_p.S4F|TBX22_ENST00000373296.3_Missense_Mutation_p.S124F|TBX22_ENST00000373291.1_Missense_Mutation_p.S4F	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	124					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGTTCCCCTCTGTTCGGGTC	0.498																																																	0													133.0	107.0	116.0					X																	79279576		2203	4300	6503	SO:0001583	missense	50945			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.371C>T	X.37:g.79279576C>T	ENSP00000362390:p.Ser124Phe		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.S124F	ENST00000373294.5	37	c.371	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359447	0.82353	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.71	4.71	0.59529	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.89153	0.6634	L	0.28192	0.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90829	0.4715	10	0.72032	D	0.01	.	15.3728	0.74581	0.0:1.0:0.0:0.0	.	124	Q9Y458	TBX22_HUMAN	F	124;4;124;4	ENSP00000362393:S124F;ENSP00000396394:S4F;ENSP00000362390:S124F;ENSP00000362388:S4F	ENSP00000362388:S4F	S	+	2	0	TBX22	79166232	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.001000	0.76297	1.922000	0.55676	0.594000	0.82650	TCT	TBX22	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.498	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1	C	NM_016954		79279576	+1	no_errors	ENST00000373294	ensembl	human	known	70_37	missense	SNP	1.000	T
TESC	54997	genome.wustl.edu	37	12	117479757	117479757	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr12:117479757G>T	ENST00000335209.7	-	7	748	c.562C>A	c.(562-564)Ctg>Atg	p.L188M	TESC_ENST00000392545.4_Missense_Mutation_p.L241M|TESC_ENST00000541210.1_Missense_Mutation_p.L161M			Q96BS2	CHP3_HUMAN	tescalcin	188					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		CCCACCTTCAGGAAGTCCTCG	0.637																																																	0													29.0	35.0	33.0					12																	117479757		1978	4159	6137	SO:0001583	missense	54997			AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.562C>A	12.37:g.117479757G>T	ENSP00000334785:p.Leu188Met		F5H1Y5|Q9NWT9	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L241M	ENST00000335209.7	37	c.721	CCDS9183.3	12	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271969	0.59649	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.57595	0.39;0.39;1.02	5.12	4.23	0.50019	EF-hand-like domain (1);	0.236300	0.28219	U	0.016143	T	0.36331	0.0963	L	0.31926	0.97	0.58432	D	0.999996	P	0.42203	0.773	B	0.31946	0.138	T	0.19679	-1.0298	10	0.34782	T	0.22	-17.3783	12.496	0.55929	0.0816:0.0:0.9184:0.0	.	188	Q96BS2	TESC_HUMAN	M	188;241;161	ENSP00000334785:L188M;ENSP00000376328:L241M;ENSP00000445689:L161M	ENSP00000334785:L188M	L	-	1	2	TESC	115964140	1.000000	0.71417	1.000000	0.80357	0.619000	0.37552	5.669000	0.68081	1.386000	0.46466	0.655000	0.94253	CTG	TESC	-	NULL		0.637	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TESC	HGNC	protein_coding	OTTHUMT00000291363.2	G	NM_017899		117479757	-1	no_errors	ENST00000392545	ensembl	human	known	70_37	missense	SNP	1.000	T
TLN1	7094	genome.wustl.edu	37	9	35713251	35713251	+	Silent	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr9:35713251C>T	ENST00000314888.9	-	26	3647	c.3294G>A	c.(3292-3294)gtG>gtA	p.V1098V	TLN1_ENST00000540444.1_Silent_p.V1098V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1098					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCTGAGCTCACGGCTTTGG	0.547																																																	0													60.0	50.0	53.0					9																	35713251		2203	4300	6503	SO:0001819	synonymous_variant	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3294G>A	9.37:g.35713251C>T			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.V1098	ENST00000314888.9	37	c.3294	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin		0.547	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	C	NM_006289		35713251	-1	no_errors	ENST00000314888	ensembl	human	known	70_37	silent	SNP	1.000	T
TNRC18	84629	genome.wustl.edu	37	7	5360020	5360020	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr7:5360020G>T	ENST00000430969.1	-	24	7022	c.6674C>A	c.(6673-6675)cCa>cAa	p.P2225Q	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2225Q	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2225							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGTCCCTTGTGGCAAGAAGCG	0.592																																																	0													41.0	40.0	40.0					7																	5360020		1563	3568	5131	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6674C>A	7.37:g.5360020G>T	ENSP00000395538:p.Pro2225Gln		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.P2225Q	ENST00000430969.1	37	c.6674	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	g	26.8	4.776357	0.90195	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.54071	0.59;0.59	4.52	4.52	0.55395	.	.	.	.	.	T	0.67401	0.2889	L	0.53249	1.67	0.44627	D	0.997604	D	0.71674	0.998	D	0.66716	0.946	T	0.71794	-0.4485	9	0.72032	D	0.01	.	16.8189	0.85740	0.0:0.0:1.0:0.0	.	2225	O15417	TNC18_HUMAN	Q	2225	ENSP00000382452:P2225Q;ENSP00000395538:P2225Q	ENSP00000382452:P2225Q	P	-	2	0	TNRC18	5326546	1.000000	0.71417	0.864000	0.33941	0.990000	0.78478	8.819000	0.91997	2.051000	0.60960	0.651000	0.88453	CCA	TNRC18	-	NULL		0.592	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		G			5360020	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	0.999	T
TOPAZ1	375337	genome.wustl.edu	37	3	44285827	44285827	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr3:44285827C>A	ENST00000309765.4	+	2	1997	c.1829C>A	c.(1828-1830)tCt>tAt	p.S610Y		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	610						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										GAGGTAATTTCTAACACTACT	0.343																																																	0													48.0	40.0	43.0					3																	44285827		692	1591	2283	SO:0001583	missense	375337			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.1829C>A	3.37:g.44285827C>A	ENSP00000310303:p.Ser610Tyr			Missense_Mutation	SNP	NULL	p.S610Y	ENST00000309765.4	37	c.1829	CCDS46809.1	3	.	.	.	.	.	.	.	.	.	.	C	12.80	2.045512	0.36085	.	.	ENSG00000173769	ENST00000309765	T	0.19250	2.16	5.81	4.94	0.65067	.	0.610991	0.14973	N	0.287726	T	0.22781	0.0550	L	0.32530	0.975	0.30518	N	0.768733	P	0.48016	0.904	P	0.48400	0.576	T	0.10291	-1.0636	10	0.87932	D	0	-1.7962	9.0005	0.36079	0.0:0.8331:0.0:0.1669	.	610	Q8N9V7	CC077_HUMAN	Y	610	ENSP00000310303:S610Y	ENSP00000310303:S610Y	S	+	2	0	C3orf77	44260831	0.001000	0.12720	0.973000	0.42090	0.584000	0.36387	0.813000	0.27225	1.477000	0.48234	0.585000	0.79938	TCT	TOPAZ1	-	NULL		0.343	TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPAZ1	HGNC	protein_coding	OTTHUMT00000343247.1	C	NM_001145030		44285827	+1	no_errors	ENST00000309765	ensembl	human	known	70_37	missense	SNP	0.920	A
TP73	7161	genome.wustl.edu	37	1	3639969	3639969	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr1:3639969C>T	ENST00000378295.4	+	6	823	c.668C>T	c.(667-669)tCg>tTg	p.S223L	TP73_ENST00000378290.4_Missense_Mutation_p.S152L|TP73_ENST00000378285.1_Missense_Mutation_p.S174L|TP73_ENST00000378288.4_Missense_Mutation_p.S174L|TP73_ENST00000357733.3_Missense_Mutation_p.S223L|TP73_ENST00000603362.1_Missense_Mutation_p.S223L|TP73_ENST00000378280.1_Missense_Mutation_p.S174L|TP73_ENST00000346387.4_Missense_Mutation_p.S223L|TP73_ENST00000604074.1_Missense_Mutation_p.S223L|TP73_ENST00000604479.1_Missense_Mutation_p.S223L|TP73_ENST00000354437.4_Missense_Mutation_p.S223L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	223	DNA-binding. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		AATAATCTCTCGCAGTATGTG	0.637																																																	0													82.0	65.0	71.0					1																	3639969		2199	4292	6491	SO:0001583	missense	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.668C>T	1.37:g.3639969C>T	ENSP00000367545:p.Ser223Leu		B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.S223L	ENST00000378295.4	37	c.668	CCDS49.1	1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263560	0.39995	.	.	ENSG00000078900	ENST00000378295;ENST00000354437;ENST00000357733;ENST00000346387;ENST00000378288;ENST00000378285;ENST00000378280;ENST00000378290	D;D;D;D;D;D;D;D	0.99778	-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73;-6.73	3.97	3.97	0.46021	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.177926	0.50627	D	0.000113	D	0.99321	0.9762	L	0.49778	1.585	0.25880	N	0.983606	D;P;P;P;B;P	0.69078	0.997;0.688;0.813;0.913;0.241;0.917	P;B;B;B;B;B	0.52554	0.702;0.103;0.183;0.255;0.067;0.394	D	0.97634	1.0144	10	0.59425	D	0.04	-7.647	13.9192	0.63921	0.0:1.0:0.0:0.0	.	174;174;174;174;223;223	B7Z8Z1;O15350-10;O15350-9;O15350-8;O15350-2;O15350	.;.;.;.;.;P73_HUMAN	L	223;223;223;223;174;174;174;152	ENSP00000367545:S223L;ENSP00000346423:S223L;ENSP00000350366:S223L;ENSP00000340740:S223L;ENSP00000367537:S174L;ENSP00000367534:S174L;ENSP00000367529:S174L;ENSP00000367539:S152L	ENSP00000340740:S223L	S	+	2	0	TP73	3629829	0.522000	0.26266	0.804000	0.32291	0.584000	0.36387	4.977000	0.63792	1.959000	0.56917	0.491000	0.48974	TCG	TP73	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.637	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	C	NM_005427		3639969	+1	no_errors	ENST00000378295	ensembl	human	known	70_37	missense	SNP	0.369	T
TRIM37	4591	genome.wustl.edu	37	17	57106026	57106026	+	Silent	SNP	G	G	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr17:57106026G>T	ENST00000262294.7	-	19	2266	c.2007C>A	c.(2005-2007)ccC>ccA	p.P669P	TRIM37_ENST00000393066.3_Silent_p.P669P|TRIM37_ENST00000376149.3_Silent_p.P547P|TRIM37_ENST00000393065.2_Silent_p.P635P	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	669					aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTAAATCAGAGGGCACTCGCC	0.353									Mulibrey Nanism																																								0													110.0	107.0	108.0					17																	57106026		2203	4300	6503	SO:0001819	synonymous_variant	4591	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.2007C>A	17.37:g.57106026G>T			Q7Z3E6|Q8IYF7|Q8WYF7	Silent	SNP	pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING	p.P669	ENST00000262294.7	37	c.2007	CCDS32694.1	17																																																																																			TRIM37	-	NULL		0.353	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM37	HGNC	protein_coding	OTTHUMT00000445930.1	G	NM_015294		57106026	-1	no_errors	ENST00000262294	ensembl	human	known	70_37	silent	SNP	0.997	T
TRPM1	4308	genome.wustl.edu	37	15	31295003	31295003	+	Silent	SNP	G	G	A	rs374471543		TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr15:31295003G>A	ENST00000256552.6	-	28	4047	c.3900C>T	c.(3898-3900)aaC>aaT	p.N1300N	TRPM1_ENST00000397795.2_Silent_p.N1278N|TRPM1_ENST00000542188.1_Silent_p.N1317N|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1									p.N1278N(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ACTCTTCTCCGTTAAAATGAT	0.468																																																	1	Substitution - coding silent(1)	large_intestine(1)						G		0,3956		0,0,1978	77.0	74.0	75.0		3834	-5.1	0.0	15		75	1,8333		0,1,4166	no	coding-synonymous	TRPM1	NM_002420.4		0,1,6144	AA,AG,GG		0.012,0.0,0.0081		1278/1604	31295003	1,12289	1978	4167	6145	SO:0001819	synonymous_variant	4308			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3900C>T	15.37:g.31295003G>A				Silent	SNP	pfam_Ion_trans_dom	p.N1317	ENST00000256552.6	37	c.3951	CCDS58346.1	15																																																																																			TRPM1	-	NULL		0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	G	NM_002420		31295003	-1	no_errors	ENST00000542188	ensembl	human	known	70_37	silent	SNP	0.024	A
TRPM6	140803	genome.wustl.edu	37	9	77378029	77378029	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr9:77378029C>A	ENST00000360774.1	-	26	3795	c.3558G>T	c.(3556-3558)caG>caT	p.Q1186H	TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1181H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1181H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q1186H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1186H|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1186					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						TTTCTTTCAGCTGGAAGTACA	0.468																																																	0													47.0	48.0	48.0					9																	77378029		2200	4298	6498	SO:0001583	missense	140803			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.3558G>T	9.37:g.77378029C>A	ENSP00000354006:p.Gln1186His		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.Q1186H	ENST00000360774.1	37	c.3558	CCDS6647.1	9	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970448	0.53614	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	5.94	-2.15	0.07102	.	0.187229	0.56097	N	0.000021	T	0.47619	0.1455	M	0.75264	2.295	0.42091	D	0.991292	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.76071	0.971;0.973;0.987	T	0.48068	-0.9067	10	0.87932	D	0	.	9.1204	0.36784	0.0:0.4421:0.1153:0.4427	.	1186;1181;1181	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	H	1186;1186;1181;1181;1186;849;849	ENSP00000354006:Q1186H;ENSP00000407341:Q1186H;ENSP00000396672:Q1181H;ENSP00000354962:Q1181H;ENSP00000366060:Q1186H	ENSP00000309693:Q849H	Q	-	3	2	TRPM6	76567849	0.858000	0.29795	0.859000	0.33776	0.841000	0.47740	0.091000	0.15046	-0.343000	0.08351	-1.193000	0.01689	CAG	TRPM6	-	NULL		0.468	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	C	NM_017662		77378029	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	missense	SNP	0.915	A
TTC30A	92104	genome.wustl.edu	37	2	178483126	178483126	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr2:178483126C>T	ENST00000355689.5	-	1	568	c.304G>A	c.(304-306)Gcc>Acc	p.A102T	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	102					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AGAAGGAAGGCGACCCGAGTG	0.647																																																	0													29.0	31.0	30.0					2																	178483126		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.304G>A	2.37:g.178483126C>T	ENSP00000347915:p.Ala102Thr		A8K8N0|Q8IVP2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.A102T	ENST00000355689.5	37	c.304	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	C	7.850	0.723765	0.15439	.	.	ENSG00000197557	ENST00000355689	T	0.78246	-1.16	6.03	3.24	0.37175	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.222050	0.50627	N	0.000102	T	0.61060	0.2317	L	0.28504	0.86	0.41306	D	0.987074	B	0.06786	0.001	B	0.06405	0.002	T	0.47935	-0.9078	10	0.23302	T	0.38	.	5.607	0.17385	0.128:0.6105:0.0:0.2615	.	102	Q86WT1	TT30A_HUMAN	T	102	ENSP00000347915:A102T	ENSP00000347915:A102T	A	-	1	0	TTC30A	178191372	0.734000	0.28142	0.979000	0.43373	0.411000	0.31082	1.194000	0.32174	0.422000	0.26005	-0.266000	0.10368	GCC	TTC30A	-	pfscan_TPR-contain_dom		0.647	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	C	NM_152275		178483126	-1	no_errors	ENST00000355689	ensembl	human	known	70_37	missense	SNP	0.897	T
USP6NL	9712	genome.wustl.edu	37	10	11567450	11567450	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chr10:11567450C>G	ENST00000609104.1	-	4	484	c.90G>C	c.(88-90)gaG>gaC	p.E30D	USP6NL_ENST00000277575.5_Missense_Mutation_p.E47D|USP6NL_ENST00000379237.2_Missense_Mutation_p.E53D	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	30					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						AAGGTTCAATCTCTGCACCTT	0.318																																																	0													122.0	114.0	117.0					10																	11567450		1838	4093	5931	SO:0001583	missense	9712			BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.90G>C	10.37:g.11567450C>G	ENSP00000476462:p.Glu30Asp		A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E47D	ENST00000609104.1	37	c.141	CCDS53492.1	10	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342407	0.41498	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.29655	1.56;1.56	5.71	2.8	0.32819	.	0.462750	0.25178	N	0.032542	T	0.20455	0.0492	L	0.31752	0.955	0.40061	D	0.975892	B;B	0.20550	0.027;0.046	B;B	0.18561	0.016;0.022	T	0.05733	-1.0867	10	0.36615	T	0.2	.	8.9392	0.35720	0.1238:0.7408:0.0:0.1354	.	30;47	Q92738;Q92738-2	US6NL_HUMAN;.	D	30;47;30	ENSP00000277575:E47D;ENSP00000368539:E30D	ENSP00000277575:E47D	E	-	3	2	USP6NL	11607456	0.977000	0.34250	1.000000	0.80357	0.996000	0.88848	0.029000	0.13666	0.870000	0.35726	0.650000	0.86243	GAG	USP6NL	-	NULL		0.318	USP6NL-001	KNOWN	basic|CCDS	protein_coding	USP6NL	HGNC	protein_coding	OTTHUMT00000046764.3	C	NM_014688		11567450	-1	no_errors	ENST00000277575	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR13	64743	genome.wustl.edu	37	X	48462649	48462649	+	Intron	SNP	C	C	T			TCGA-C5-A2LS-01A-22D-A22X-09	TCGA-C5-A2LS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	27dabab2-d65a-41c4-995a-f2c9b7adf441	64058b60-93c9-418c-823e-77e4bcde4034	g.chrX:48462649C>T	ENST00000218056.5	+	8	1659				WDR13_ENST00000376729.5_Intron	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13							cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CCCACTCTCTCATCCTCTCAG	0.567																																																	0													68.0	49.0	56.0					X																	48462649		2203	4300	6503	SO:0001627	intron_variant	64743			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.1155-11C>T	X.37:g.48462649C>T			Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	RNA	SNP	-	NULL	ENST00000218056.5	37	NULL	CCDS14302.1	X																																																																																			WDR13	-	-		0.567	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	C			48462649	+1	no_errors	ENST00000492873	ensembl	human	known	70_37	rna	SNP	0.000	T
