#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
AHCTF1	25909	genome.wustl.edu	37	1	247003181	247003181	+	3'UTR	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:247003181C>T	ENST00000391829.2	-	0	7851				AHCTF1_ENST00000366508.1_3'UTR|AHCTF1_ENST00000326225.3_3'UTR|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1						cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACATCTACTCACTCTCTCCC	0.408																																					Colon(145;197 1800 4745 15099 26333)												0																																										SO:0001624	3_prime_UTR_variant	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.*927G>A	1.37:g.247003181C>T			A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	RNA	SNP	-	NULL	ENST00000391829.2	37	NULL		1																																																																																			AHCTF1	-	-		0.408	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		C	NM_015446		247003181	-1	no_errors	ENST00000470300	ensembl	human	known	70_37	rna	SNP	0.001	T
ANKRD30A	91074	genome.wustl.edu	37	10	37438770	37438770	+	Silent	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr10:37438770G>A	ENST00000602533.1	+	11	1569	c.1470G>A	c.(1468-1470)ttG>ttA	p.L490L	ANKRD30A_ENST00000361713.1_Silent_p.L490L|ANKRD30A_ENST00000374660.1_Silent_p.L490L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	546					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACAAACATTGAGAGCAGGTA	0.313																																																	0													84.0	78.0	80.0					10																	37438770		1808	4059	5867	SO:0001819	synonymous_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1470G>A	10.37:g.37438770G>A			Q5W025	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L490	ENST00000602533.1	37	c.1470		10																																																																																			ANKRD30A	-	NULL		0.313	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	ANKRD30A	HGNC	protein_coding	OTTHUMT00000047588.2	G	NM_052997		37438770	+1	no_errors	ENST00000361713	ensembl	human	known	70_37	silent	SNP	0.001	A
APC	324	genome.wustl.edu	37	5	112178155	112178155	+	Silent	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr5:112178155G>A	ENST00000457016.1	+	16	7244	c.6864G>A	c.(6862-6864)caG>caA	p.Q2288Q	APC_ENST00000257430.4_Silent_p.Q2288Q|APC_ENST00000508376.2_Silent_p.Q2288Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	2288	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTGCCAGGCAGACATCCCAAA	0.493		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)											55.0	53.0	53.0					5																	112178155		2202	4300	6502	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.6864G>A	5.37:g.112178155G>A			D3DT03|Q15162|Q15163|Q93042	Silent	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.Q2288	ENST00000457016.1	37	c.6864	CCDS4107.1	5																																																																																			APC	-	pfam_APC_basic_dom		0.493	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2	G	NM_000038		112178155	+1	no_errors	ENST00000257430	ensembl	human	known	70_37	silent	SNP	1.000	A
ASPM	259266	genome.wustl.edu	37	1	197091367	197091367	+	Silent	SNP	C	C	T	rs199422158		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:197091367C>T	ENST00000367409.4	-	15	3919	c.3663G>A	c.(3661-3663)agG>agA	p.R1221R	ASPM_ENST00000294732.7_Silent_p.R1221R|ASPM_ENST00000367408.1_Silent_p.R471R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1221	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAACTGCAGACCTAACCAAGT	0.348																																																	0			GRCh37	CD033166	ASPM	D							41.0	42.0	42.0					1																	197091367		2203	4298	6501	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3663G>A	1.37:g.197091367C>T			Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R1221	ENST00000367409.4	37	c.3663	CCDS1389.1	1																																																																																			ASPM	-	superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain		0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	C	NM_018136		197091367	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	silent	SNP	0.619	T
ATP8B5P	158381	genome.wustl.edu	37	9	35451103	35451104	+	RNA	INS	-	-	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr9:35451103_35451104insA	ENST00000430846.1	+	0	3953_3954									ATPase, class I, type 8B, member 5, pseudogene																		AGGAAAACCAGAAAAAAAAAGT	0.347																																																	0																																												158381					9p13.3	2010-09-22			ENSG00000179766	ENSG00000179766		"""ATPases / P-type"""	27245	pseudogene	pseudogene	"""flippase expressed in testis splicing form A pseudogene"""					20210903, 19657017	Standard	NR_003582		Approved	FetA	uc010mkn.2		OTTHUMG00000019862		9.37:g.35451112_35451112dupA				RNA	INS	-	NULL	ENST00000430846.1	37	NULL		9																																																																																			ATP8B5P	-	-		0.347	ATP8B5P-002	KNOWN	basic	processed_transcript	ATP8B5P	HGNC	pseudogene	OTTHUMT00000052312.1	-	NR_003581.1		35451104	+1	no_errors	ENST00000430846	ensembl	human	known	70_37	rna	INS	0.651:0.639	A
BOC	91653	genome.wustl.edu	37	3	112993432	112993432	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr3:112993432G>A	ENST00000495514.1	+	9	2149	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	BOC_ENST00000355385.3_Missense_Mutation_p.R482H|BOC_ENST00000497495.1_3'UTR|BOC_ENST00000273395.4_Missense_Mutation_p.R482H			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	482	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AGCTCGCCCCGCACCTCCAAG	0.647																																																	0													34.0	39.0	37.0					3																	112993432		2203	4298	6501	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.1445G>A	3.37:g.112993432G>A	ENSP00000418663:p.Arg482His		A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R482H	ENST00000495514.1	37	c.1445	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.350830	0.95830	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.29917	1.55;1.55;1.55	5.8	5.8	0.92144	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.54013	0.1832	L	0.55481	1.735	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.988;0.993	T	0.49925	-0.8887	10	0.59425	D	0.04	.	20.0693	0.97712	0.0:0.0:1.0:0.0	.	482;482	Q9BWV1-3;Q9BWV1	.;BOC_HUMAN	H	482	ENSP00000418663:R482H;ENSP00000273395:R482H;ENSP00000347546:R482H	ENSP00000273395:R482H	R	+	2	0	BOC	114476122	1.000000	0.71417	0.989000	0.46669	0.740000	0.42216	7.586000	0.82596	2.758000	0.94735	0.563000	0.77884	CGC	BOC	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	G	NM_033254		112993432	+1	no_errors	ENST00000273395	ensembl	human	known	70_37	missense	SNP	1.000	A
BRAT1	221927	genome.wustl.edu	37	7	2579484	2579484	+	Silent	SNP	G	G	C			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:2579484G>C	ENST00000340611.4	-	11	1690	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	BRAT1_ENST00000473879.1_5'UTR	NM_152743.3	NP_689956.2	Q6PJG6	BRAT1_HUMAN	BRCA1-associated ATM activator 1	478					response to ionizing radiation (GO:0010212)	membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23						GTGAGCTCAGGAGCCACCTGA	0.652																																																	0													28.0	31.0	30.0					7																	2579484		2199	4299	6498	SO:0001819	synonymous_variant	221927			BC015632	CCDS5334.1	7p22.3	2011-03-22	2011-02-28	2011-03-22	ENSG00000106009	ENSG00000106009			21701	protein-coding gene	gene with protein product	"""BRCA1-associated protein required for ATM activation protein 1"""	614506	"""chromosome 7 open reading frame 27"""	C7orf27, BAAT1		16452482	Standard	NM_152743		Approved	MGC22916	uc003smi.3	Q6PJG6	OTTHUMG00000119091	ENST00000340611.4:c.1434C>G	7.37:g.2579484G>C			A4D200|C9JY24|Q8IW85|Q8IZ43|Q8WVR8|Q96IV9|Q9H7J8|Q9UFA3	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.L478	ENST00000340611.4	37	c.1434	CCDS5334.1	7																																																																																			BRAT1	-	superfamily_ARM-type_fold		0.652	BRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAT1	HGNC	protein_coding	OTTHUMT00000239305.2	G	NM_152743		2579484	-1	no_errors	ENST00000340611	ensembl	human	known	70_37	silent	SNP	0.000	C
CCDC132	55610	genome.wustl.edu	37	7	92905564	92905564	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:92905564G>A	ENST00000305866.5	+	12	1017	c.889G>A	c.(889-891)Gca>Aca	p.A297T	CCDC132_ENST00000251739.5_Missense_Mutation_p.A297T|CCDC132_ENST00000541136.1_Missense_Mutation_p.A108T|CCDC132_ENST00000317751.6_Missense_Mutation_p.A28T|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000544910.1_Missense_Mutation_p.A267T	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	297						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGAACTATGTGCAGGAAACAC	0.368																																																	0													178.0	160.0	166.0					7																	92905564		2203	4300	6503	SO:0001583	missense	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.889G>A	7.37:g.92905564G>A	ENSP00000307666:p.Ala297Thr		B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C	p.A297T	ENST00000305866.5	37	c.889	CCDS43617.1	7	.	.	.	.	.	.	.	.	.	.	G	27.0	4.794613	0.90453	.	.	ENSG00000004766	ENST00000251739;ENST00000305866;ENST00000544910;ENST00000541136;ENST00000317751	T	0.45668	0.89	5.59	4.7	0.59300	Vacuolar protein sorting-associated protein 54 (1);	0.055522	0.64402	D	0.000001	T	0.52853	0.1760	L	0.36672	1.1	0.80722	D	1	D;D;B	0.67145	0.996;0.99;0.307	D;P;B	0.79784	0.993;0.836;0.077	T	0.45614	-0.9249	10	0.21014	T	0.42	-10.949	16.1205	0.81351	0.0:0.0:0.8651:0.1349	.	267;297;297	F5H5U7;Q96JG6;Q96JG6-2	.;CC132_HUMAN;.	T	297;297;267;108;28	ENSP00000325582:A28T	ENSP00000251739:A297T	A	+	1	0	CCDC132	92743500	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.909000	0.87444	1.481000	0.48307	0.650000	0.86243	GCA	CCDC132	-	pfam_Vacuolar_sorting-assoc_54		0.368	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC132	HGNC	protein_coding	OTTHUMT00000341687.1	G	NM_017667		92905564	+1	no_errors	ENST00000305866	ensembl	human	known	70_37	missense	SNP	1.000	A
CALU	813	genome.wustl.edu	37	7	128394425	128394425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:128394425C>T	ENST00000249364.4	+	3	433	c.331C>T	c.(331-333)Cga>Tga	p.R111*	CALU_ENST00000535623.1_Nonsense_Mutation_p.R119*|CALU_ENST00000479257.1_Nonsense_Mutation_p.R119*|CALU_ENST00000449187.2_Intron|CALU_ENST00000542996.2_Intron|CALU_ENST00000535011.2_Nonsense_Mutation_p.R111*|CALU_ENST00000538546.1_Intron	NM_001219.4	NP_001210.1	O43852	CALU_HUMAN	calumenin	111	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)			kidney(2)|large_intestine(3)|lung(5)	10						GGATGTAGAGCGACAGTGGAA	0.483																																																	0													135.0	117.0	123.0					7																	128394425		2203	4300	6503	SO:0001587	stop_gained	813			AF013759	CCDS5805.1, CCDS47703.1, CCDS56506.1, CCDS56507.1, CCDS56508.1	7q32	2013-01-10			ENSG00000128595	ENSG00000128595		"""EF-hand domain containing"""	1458	protein-coding gene	gene with protein product		603420				9598325	Standard	NM_001219		Approved		uc003vnq.3	O43852	OTTHUMG00000158274	ENST00000249364.4:c.331C>T	7.37:g.128394425C>T	ENSP00000249364:p.Arg111*		B3KPG9|D6QS48|D6QS49|D6QS50|D6QS51|D6QS52|D6QS53|D6QS54|D6QS55|D6QS56|D6QS57|D6QS58|D6QS59|F5H1Q9|F5H879|O60456|Q6FHB9|Q96RL3|Q9NR43	Nonsense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R111*	ENST00000249364.4	37	c.331	CCDS5805.1	7	.	.	.	.	.	.	.	.	.	.	C	46	12.174596	0.99643	.	.	ENSG00000128595	ENST00000535623;ENST00000538394;ENST00000535011;ENST00000249364;ENST00000479257	.	.	.	5.96	5.96	0.96718	.	0.756097	0.12739	N	0.443202	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.3347	17.9055	0.88917	0.0:1.0:0.0:0.0	.	.	.	.	X	119;111;111;111;119	.	ENSP00000249364:R111X	R	+	1	2	CALU	128181661	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.945000	0.56637	2.827000	0.97445	0.655000	0.94253	CGA	CALU	-	pfscan_EF_HAND_2		0.483	CALU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALU	HGNC	protein_coding	OTTHUMT00000350533.1	C	NM_001219		128394425	+1	no_errors	ENST00000249364	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CCDC28A	25901	genome.wustl.edu	37	6	139095016	139095016	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:139095016G>A	ENST00000332797.6	+	1	360	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	69										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGCGGAAGGGGGCCCCAATAC	0.632																																																	0													61.0	76.0	71.0					6																	139095016		2203	4300	6503	SO:0001583	missense	25901			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.205G>A	6.37:g.139095016G>A	ENSP00000332716:p.Gly69Ser		E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	NULL	p.G69S	ENST00000332797.6	37	c.205	CCDS5192.1	6	.	.	.	.	.	.	.	.	.	.	G	18.45	3.625891	0.66901	.	.	ENSG00000024862	ENST00000332797	T	0.23754	1.89	4.37	1.55	0.23275	.	1.189610	0.06297	N	0.700174	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B	0.17038	0.02	B	0.17433	0.018	T	0.41270	-0.9518	10	0.28530	T	0.3	-2.0846	3.6796	0.08305	0.2067:0.0:0.5906:0.2027	.	69	Q8IWP9	CC28A_HUMAN	S	69	ENSP00000332716:G69S	ENSP00000332716:G69S	G	+	1	0	CCDC28A	139136709	0.321000	0.24625	0.277000	0.24703	0.820000	0.46376	0.548000	0.23314	0.334000	0.23590	0.561000	0.74099	GGC	CCDC28A	-	NULL		0.632	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC28A	HGNC	protein_coding	OTTHUMT00000042444.1	G	NM_015439		139095016	+1	no_errors	ENST00000332797	ensembl	human	known	70_37	missense	SNP	0.266	A
CNTN1	1272	genome.wustl.edu	37	12	41316209	41316209	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr12:41316209G>A	ENST00000551295.2	+	5	496	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CNTN1_ENST00000347616.1_Missense_Mutation_p.E127K|CNTN1_ENST00000547702.1_Missense_Mutation_p.E127K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E127K|CNTN1_ENST00000348761.2_Missense_Mutation_p.E116K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E127K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	127	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGAAGCACTGAAGCAACCCT	0.403																																																	0													111.0	100.0	103.0					12																	41316209		2203	4300	6503	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.379G>A	12.37:g.41316209G>A	ENSP00000447006:p.Glu127Lys		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E127K	ENST00000551295.2	37	c.379	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.059552	0.93846	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.65	4.75	0.60458	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048893	0.85682	N	0.000000	T	0.28466	0.0704	L	0.56340	1.77	0.54753	D	0.999982	D;D;D	0.67145	0.996;0.979;0.983	P;P;P	0.60886	0.788;0.81;0.88	T	0.01290	-1.1394	10	0.36615	T	0.2	.	14.7892	0.69827	0.0696:0.0:0.9304:0.0	.	127;116;127	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	K	127;127;127;127;127;116	ENSP00000448004:E127K;ENSP00000447006:E127K;ENSP00000448653:E127K;ENSP00000325660:E127K;ENSP00000353213:E127K;ENSP00000261160:E116K	ENSP00000325660:E127K	E	+	1	0	CNTN1	39602476	1.000000	0.71417	0.835000	0.33067	0.963000	0.63663	9.230000	0.95299	1.523000	0.49018	0.585000	0.79938	GAA	CNTN1	-	smart_Ig_sub,pfscan_Ig-like		0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	G	NM_001843		41316209	+1	no_errors	ENST00000347616	ensembl	human	known	70_37	missense	SNP	0.997	A
COL20A1	57642	genome.wustl.edu	37	20	61943826	61943826	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr20:61943826A>T	ENST00000358894.6	+	15	1958	c.1858A>T	c.(1858-1860)Acc>Tcc	p.T620S	COL20A1_ENST00000326996.6_Missense_Mutation_p.T620S|COL20A1_ENST00000435874.1_Missense_Mutation_p.T627S|COL20A1_ENST00000422202.1_Missense_Mutation_p.T627S	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	620	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTCTTCCTCCACCACCTACAC	0.682																																																	0													39.0	47.0	44.0					20																	61943826		2198	4297	6495	SO:0001583	missense	57642			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1858A>T	20.37:g.61943826A>T	ENSP00000351767:p.Thr620Ser		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.T620S	ENST00000358894.6	37	c.1858	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	A	15.09	2.729660	0.48833	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	4.15	4.15	0.48705	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.070220	0.64402	D	0.000017	T	0.63070	0.2480	M	0.64997	1.995	0.31166	N	0.703746	P;D	0.54047	0.955;0.964	P;P	0.53266	0.6;0.722	T	0.68723	-0.5333	10	0.56958	D	0.05	.	9.5902	0.39541	1.0:0.0:0.0:0.0	.	627;620	Q9P218-2;Q9P218	.;COKA1_HUMAN	S	620;620;627;627	ENSP00000351767:T620S;ENSP00000323077:T620S;ENSP00000408690:T627S;ENSP00000414753:T627S	ENSP00000323077:T620S	T	+	1	0	COL20A1	61414271	0.002000	0.14202	0.482000	0.27366	0.269000	0.26545	1.292000	0.33342	1.539000	0.49286	0.260000	0.18958	ACC	COL20A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.682	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	A	NM_020882		61943826	+1	no_errors	ENST00000326996	ensembl	human	known	70_37	missense	SNP	0.928	T
CYGB	114757	genome.wustl.edu	37	17	74527673	74527673	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr17:74527673C>T	ENST00000293230.5	-	2	606	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	CYGB_ENST00000590175.1_Missense_Mutation_p.A17T|CYGB_ENST00000586160.1_5'Flank|PRCD_ENST00000592432.1_Intron|CYGB_ENST00000589145.1_Missense_Mutation_p.A17T|CYGB_ENST00000589342.1_Missense_Mutation_p.A82T	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	82	Globin.				oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						ACTCGGCAGGCGTGCTTCCGC	0.617																																																	0													72.0	71.0	71.0					17																	74527673		2203	4300	6503	SO:0001583	missense	114757			AJ315162	CCDS11746.1	17q25	2008-07-18				ENSG00000161544			16505	protein-coding gene	gene with protein product	"""stellate cell activation-associated protein"", ""histoglobin"""	608759				11919282	Standard	NM_134268		Approved	HGB, STAP	uc002jru.2	Q8WWM9		ENST00000293230.5:c.244G>A	17.37:g.74527673C>T	ENSP00000293230:p.Ala82Thr		Q541Y7|Q8N2X5	Missense_Mutation	SNP	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin	p.A82T	ENST00000293230.5	37	c.244	CCDS11746.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.865616	0.97043	.	.	ENSG00000161544	ENST00000293230	D	0.94537	-3.45	5.4	5.4	0.78164	Globin-like (1);Globin, structural domain (1);	0.047021	0.85682	D	0.000000	D	0.97084	0.9047	M	0.86343	2.81	0.80722	D	1	D	0.69078	0.997	P	0.56865	0.808	D	0.97657	1.0158	10	0.87932	D	0	-14.8357	19.1688	0.93569	0.0:1.0:0.0:0.0	.	82	Q8WWM9	CYGB_HUMAN	T	82	ENSP00000293230:A82T	ENSP00000293230:A82T	A	-	1	0	CYGB	72039268	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.609000	0.82925	2.536000	0.85505	0.462000	0.41574	GCC	CYGB	-	pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish		0.617	CYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYGB	HGNC	protein_coding	OTTHUMT00000450590.1	C	NM_134268		74527673	-1	no_errors	ENST00000293230	ensembl	human	known	70_37	missense	SNP	1.000	T
DLGAP3	58512	genome.wustl.edu	37	1	35365814	35365814	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:35365814G>A	ENST00000373347.1	-	4	1436	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R390C			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	390					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CGCATCCTGCGGCAGGGGATC	0.627																																																	0													96.0	96.0	96.0					1																	35365814		2203	4300	6503	SO:0001583	missense	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.1168C>T	1.37:g.35365814G>A	ENSP00000362444:p.Arg390Cys		Q5TDD5|Q9H3X7	Missense_Mutation	SNP	pfam_GKAP	p.R390C	ENST00000373347.1	37	c.1168	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064180	0.76187	.	.	ENSG00000116544	ENST00000373347;ENST00000235180;ENST00000542913	T;T	0.34472	1.36;1.36	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.64202	-0.6463	10	0.87932	D	0	-13.5469	12.3663	0.55230	0.0:0.0:0.8314:0.1686	.	390	O95886	DLGP3_HUMAN	C	390;390;73	ENSP00000362444:R390C;ENSP00000235180:R390C	ENSP00000235180:R390C	R	-	1	0	DLGAP3	35138401	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.429000	0.52800	2.296000	0.77279	0.313000	0.20887	CGC	DLGAP3	-	NULL		0.627	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	G	NM_021234		35365814	-1	no_errors	ENST00000235180	ensembl	human	known	70_37	missense	SNP	1.000	A
EMILIN2	84034	genome.wustl.edu	37	18	2892085	2892085	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr18:2892085G>A	ENST00000254528.3	+	4	2119	c.1960G>A	c.(1960-1962)Gac>Aac	p.D654N		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	654					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AAGGACAGTGGACACCCTGCC	0.557																																																	0													64.0	60.0	61.0					18																	2892085		2203	4300	6503	SO:0001583	missense	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1960G>A	18.37:g.2892085G>A	ENSP00000254528:p.Asp654Asn		B2RMY3|Q8NBH3|Q96JQ4	Missense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.D654N	ENST00000254528.3	37	c.1960	CCDS11828.1	18	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477587	0.26511	.	.	ENSG00000132205	ENST00000254528	T	0.34667	1.35	5.25	5.25	0.73442	.	0.662283	0.14772	N	0.299350	T	0.24661	0.0598	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.10753	-1.0616	10	0.17369	T	0.5	-5.4816	12.2215	0.54437	0.0785:0.0:0.9215:0.0	.	654	Q9BXX0	EMIL2_HUMAN	N	654	ENSP00000254528:D654N	ENSP00000254528:D654N	D	+	1	0	EMILIN2	2882085	0.262000	0.24073	0.011000	0.14972	0.034000	0.12701	3.308000	0.51896	2.444000	0.82710	0.563000	0.77884	GAC	EMILIN2	-	NULL		0.557	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN2	HGNC	protein_coding	OTTHUMT00000250337.2	G	NM_032048		2892085	+1	no_errors	ENST00000254528	ensembl	human	known	70_37	missense	SNP	0.028	A
DMBT1P1	375940	genome.wustl.edu	37	10	124558532	124558532	+	RNA	SNP	C	C	T	rs566789833		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr10:124558532C>T	ENST00000439464.2	+	0	3743					NR_003570.1																						TCCTTGATGACGTCAACTGCA	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19794	0.0		0.0	False		,,,				2504	0.0																0																																												0																															10.37:g.124558532C>T				RNA	SNP	-	NULL	ENST00000439464.2	37	NULL		10																																																																																			RP11-107C16.2	-	-		0.627	RP11-318C4.2-001	KNOWN	basic	processed_transcript	ENSG00000176584	Clone_based_vega_gene	pseudogene	OTTHUMT00000471298.1	C			124558532	+1	no_errors	ENST00000419885	ensembl	human	known	70_37	rna	SNP	0.072	T
TCEANC2	127428	genome.wustl.edu	37	1	54570331	54570331	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:54570331C>T	ENST00000391366.1	+	1	364	c.191C>T	c.(190-192)tCa>tTa	p.S64L	TCEANC2_ENST00000498272.1_Intron																							tctcctgcctcagcctcccga	0.527																																																	0																																										SO:0001583	missense	0																														ENST00000391366.1:c.191C>T	1.37:g.54570331C>T	ENSP00000375174:p.Ser64Leu			Missense_Mutation	SNP	NULL	p.S64L	ENST00000391366.1	37	c.191		1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652496	0.29336	.	.	ENSG00000212670	ENST00000391366	T	0.13089	2.62	0.207	0.207	0.15214	.	.	.	.	.	T	0.12475	0.0303	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31336	-0.9947	5	0.42905	T	0.14	.	.	.	.	.	.	.	.	L	64	ENSP00000375174:S64L	ENSP00000375174:S64L	S	+	2	0	AL161915.1	54342919	.	.	0.124000	0.21820	0.180000	0.23129	.	.	0.284000	0.22305	0.289000	0.19496	TCA	AL161915.1	-	NULL		0.527	AL161915.1-201	NOVEL	basic|appris_principal	protein_coding	ENSG00000212670	Clone_based_ensembl_gene	protein_coding		C			54570331	+1	no_errors	ENST00000391366	ensembl	human	known	70_37	missense	SNP	0.147	T
RP11-403I13.4	0	genome.wustl.edu	37	1	149265366	149265367	+	lincRNA	INS	-	-	T	rs142063797		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:149265366_149265367insT	ENST00000325963.8	+	0	4913_4914																											TGAAAGTTGTATTTTTTTTTAA	0.282																																																	0																																												0																															1.37:g.149265375_149265375dupT				RNA	INS	-	NULL	ENST00000325963.8	37	NULL		1																																																																																			RP11-403I13.4	-	-		0.282	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	ENSG00000223779	Clone_based_vega_gene	lincRNA	OTTHUMT00000099551.1	-			149265367	+1	no_errors	ENST00000325963	ensembl	human	known	70_37	rna	INS	0.175:0.073	T
FAM160A2	84067	genome.wustl.edu	37	11	6239972	6239972	+	Silent	SNP	G	G	A	rs368609593	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr11:6239972G>A	ENST00000449352.2	-	8	1556	c.1293C>T	c.(1291-1293)caC>caT	p.H431H	FAM160A2_ENST00000524416.1_Silent_p.H431H|FAM160A2_ENST00000265978.4_Silent_p.H431H			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	431					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGCATAACGTGGTTACATG	0.517													G|||	2	0.000399361	0.0	0.0	5008	,	,		20654	0.0		0.001	False		,,,				2504	0.001																0								G	,	2,4400	4.2+/-10.8	0,2,2199	139.0	119.0	126.0		1293,1293	-1.4	1.0	11		126	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous	FAM160A2	NM_001098794.1,NM_032127.3	,	0,2,6495	AA,AG,GG		0.0,0.0454,0.0154	,	431/973,431/987	6239972	2,12992	2201	4296	6497	SO:0001819	synonymous_variant	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1293C>T	11.37:g.6239972G>A			Q9C0A4|Q9H0N3|Q9H624	Silent	SNP	pfam_RetinoicA-induced_16-like	p.H431	ENST00000449352.2	37	c.1293	CCDS44530.1	11																																																																																			FAM160A2	-	NULL		0.517	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	HGNC	protein_coding	OTTHUMT00000383759.1	G	NM_032127		6239972	-1	no_errors	ENST00000265978	ensembl	human	known	70_37	silent	SNP	0.936	A
FBXO40	51725	genome.wustl.edu	37	3	121340434	121340434	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr3:121340434A>G	ENST00000338040.4	+	3	572	c.158A>G	c.(157-159)gAg>gGg	p.E53G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	53					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		AAAGAGGCAGAGCACCAGCTC	0.582																																																	0													99.0	90.0	93.0					3																	121340434		2203	4300	6503	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.158A>G	3.37:g.121340434A>G	ENSP00000337510:p.Glu53Gly		B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.E53G	ENST00000338040.4	37	c.158	CCDS33835.1	3	.	.	.	.	.	.	.	.	.	.	A	19.54	3.847685	0.71603	.	.	ENSG00000163833	ENST00000338040	T	0.46451	0.87	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.72367	-0.4315	10	0.87932	D	0	-22.4289	13.4915	0.61397	1.0:0.0:0.0:0.0	.	53	Q9UH90	FBX40_HUMAN	G	53	ENSP00000337510:E53G	ENSP00000337510:E53G	E	+	2	0	FBXO40	122823124	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.307000	0.96226	2.089000	0.63090	0.533000	0.62120	GAG	FBXO40	-	superfamily_TRAF-like		0.582	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO40	HGNC	protein_coding	OTTHUMT00000355158.1	A	NM_016298		121340434	+1	no_errors	ENST00000338040	ensembl	human	known	70_37	missense	SNP	1.000	G
GDF6	392255	genome.wustl.edu	37	8	97172815	97172815	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr8:97172815C>T	ENST00000287020.5	-	1	205	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	36					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)				breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GAACCCAGCTCGGCGGACGAC	0.647																																																	0													51.0	59.0	56.0					8																	97172815		2202	4300	6502	SO:0001583	missense	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.106G>A	8.37:g.97172815C>T	ENSP00000287020:p.Glu36Lys		Q6PI58	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.E36K	ENST00000287020.5	37	c.106	CCDS34926.1	8	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820414	0.50633	.	.	ENSG00000156466	ENST00000287020;ENST00000454970;ENST00000435084	T	0.80480	-1.38	4.34	2.35	0.29111	.	3.036110	0.02198	U	0.062045	T	0.64114	0.2569	N	0.14661	0.345	0.24738	N	0.993056	B	0.12630	0.006	B	0.09377	0.004	T	0.55823	-0.8080	10	0.02654	T	1	.	7.2592	0.26193	0.1797:0.4701:0.3501:0.0	.	36	Q6KF10	GDF6_HUMAN	K	36	ENSP00000287020:E36K	ENSP00000287020:E36K	E	-	1	0	GDF6	97241991	0.603000	0.26924	0.858000	0.33744	0.896000	0.52359	1.156000	0.31712	0.788000	0.33755	0.514000	0.50259	GAG	GDF6	-	NULL		0.647	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	HGNC	protein_coding	OTTHUMT00000379862.2	C	NM_001001557		97172815	-1	no_errors	ENST00000287020	ensembl	human	known	70_37	missense	SNP	0.855	T
GJA1	2697	genome.wustl.edu	37	6	121768443	121768443	+	Silent	SNP	G	G	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:121768443G>T	ENST00000282561.3	+	2	607	c.450G>T	c.(448-450)ggG>ggT	p.G150G		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	150					adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TGCGAGGGGGGTTGCTGCGAA	0.448																																																	0													123.0	116.0	118.0					6																	121768443		2203	4300	6503	SO:0001819	synonymous_variant	2697			BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.450G>T	6.37:g.121768443G>T			B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43	p.G150	ENST00000282561.3	37	c.450	CCDS5123.1	6																																																																																			GJA1	-	NULL		0.448	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA1	HGNC	protein_coding	OTTHUMT00000042023.1	G	NM_000165		121768443	+1	no_errors	ENST00000282561	ensembl	human	known	70_37	silent	SNP	0.590	T
GOLM1	51280	genome.wustl.edu	37	9	88692498	88692498	+	Silent	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr9:88692498G>A	ENST00000388712.3	-	3	306	c.138C>T	c.(136-138)atC>atT	p.I46I	GOLM1_ENST00000388711.3_Silent_p.I46I|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	46					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CCAGCTCCATGATCCGTGTCT	0.627																																																	0													75.0	75.0	75.0					9																	88692498		2203	4300	6503	SO:0001819	synonymous_variant	51280			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.138C>T	9.37:g.88692498G>A			Q6IAF4|Q9NRB9	Silent	SNP	NULL	p.I46	ENST00000388712.3	37	c.138	CCDS35054.1	9																																																																																			GOLM1	-	NULL		0.627	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2	G	NM_177937		88692498	-1	no_errors	ENST00000388711	ensembl	human	known	70_37	silent	SNP	0.049	A
GPI	2821	genome.wustl.edu	37	19	34859566	34859566	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr19:34859566G>C	ENST00000356487.5	+	4	602	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	GPI_ENST00000586425.1_Missense_Mutation_p.E121Q|GPI_ENST00000415930.3_Missense_Mutation_p.E160Q	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	121					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGTGATGCCAGAGGTCAACAA	0.552																																																	0													150.0	117.0	128.0					19																	34859566		2203	4300	6503	SO:0001583	missense	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.361G>C	19.37:g.34859566G>C	ENSP00000348877:p.Glu121Gln		B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Missense_Mutation	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.E160Q	ENST00000356487.5	37	c.478	CCDS12437.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.705772	0.96812	.	.	ENSG00000105220	ENST00000415930;ENST00000356487	D;D	0.94330	-3.4;-3.4	5.88	5.88	0.94601	.	0.137725	0.64402	D	0.000004	D	0.95023	0.8389	L	0.55213	1.73	0.80722	D	1	P;D;P;P	0.53619	0.766;0.961;0.766;0.536	P;P;P;B	0.55455	0.694;0.776;0.694;0.368	D	0.94657	0.7844	10	0.59425	D	0.04	-17.2928	20.221	0.98325	0.0:0.0:1.0:0.0	.	121;160;104;121	B4DE36;B4DG39;B4DVJ0;P06744	.;.;.;G6PI_HUMAN	Q	160;121	ENSP00000405573:E160Q;ENSP00000348877:E121Q	ENSP00000348877:E121Q	E	+	1	0	GPI	39551406	1.000000	0.71417	0.989000	0.46669	0.985000	0.73830	9.782000	0.99034	2.792000	0.96026	0.555000	0.69702	GAG	GPI	-	pfam_G6P_Isomerase		0.552	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	G			34859566	+1	no_errors	ENST00000415930	ensembl	human	known	70_37	missense	SNP	1.000	C
GPI	2821	genome.wustl.edu	37	19	34859589	34859589	+	Silent	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr19:34859589G>A	ENST00000356487.5	+	4	625	c.384G>A	c.(382-384)aaG>aaA	p.K128K	GPI_ENST00000586425.1_Silent_p.K128K|GPI_ENST00000415930.3_Silent_p.K167K	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	128					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTCTGGACAAGATGAAGTCTT	0.567																																																	0													151.0	116.0	128.0					19																	34859589		2203	4300	6503	SO:0001819	synonymous_variant	2821			M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.384G>A	19.37:g.34859589G>A			B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	pfam_G6P_Isomerase,prints_G6P_Isomerase	p.K167	ENST00000356487.5	37	c.501	CCDS12437.1	19																																																																																			GPI	-	pfam_G6P_Isomerase,prints_G6P_Isomerase		0.567	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GPI	HGNC	protein_coding	OTTHUMT00000451693.3	G			34859589	+1	no_errors	ENST00000415930	ensembl	human	known	70_37	silent	SNP	1.000	A
GPR112	139378	genome.wustl.edu	37	X	135426995	135426995	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chrX:135426995C>G	ENST00000394143.1	+	6	1421	c.1130C>G	c.(1129-1131)tCc>tGc	p.S377C	GPR112_ENST00000412101.1_Missense_Mutation_p.S172C|GPR112_ENST00000370652.1_Missense_Mutation_p.S377C|GPR112_ENST00000287534.4_Missense_Mutation_p.S314C|GPR112_ENST00000394141.1_Missense_Mutation_p.S172C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	377					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTATCCACATCCAGATTTACC	0.363																																																	0													76.0	71.0	73.0					X																	135426995		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1130C>G	X.37:g.135426995C>G	ENSP00000377699:p.Ser377Cys		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S377C	ENST00000394143.1	37	c.1130	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	6.585	0.476272	0.12521	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	3.95	0.864	0.19068	.	.	.	.	.	T	0.28797	0.0714	L	0.29908	0.895	0.09310	N	1	P;B;B	0.38617	0.64;0.329;0.221	B;B;B	0.40329	0.326;0.224;0.112	T	0.22836	-1.0205	9	0.87932	D	0	.	2.5621	0.04774	0.2315:0.4981:0.0:0.2703	.	314;172;377	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	C	377;377;172;314;172	ENSP00000377699:S377C;ENSP00000359686:S377C;ENSP00000416526:S172C;ENSP00000287534:S314C;ENSP00000377697:S172C	ENSP00000287534:S314C	S	+	2	0	GPR112	135254661	0.026000	0.19158	0.000000	0.03702	0.010000	0.07245	0.265000	0.18515	0.267000	0.21916	-0.328000	0.08392	TCC	GPR112	-	NULL		0.363	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	C			135426995	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.000	G
GRIN2A	2903	genome.wustl.edu	37	16	9916231	9916231	+	Silent	SNP	A	A	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr16:9916231A>G	ENST00000396573.2	-	11	2367	c.2058T>C	c.(2056-2058)ccT>ccC	p.P686P	GRIN2A_ENST00000562109.1_Silent_p.P686P|GRIN2A_ENST00000330684.3_Silent_p.P686P|GRIN2A_ENST00000535259.1_Silent_p.P529P|GRIN2A_ENST00000404927.2_Silent_p.P686P|GRIN2A_ENST00000396575.2_Silent_p.P686P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	686					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGCTTCCATTAGGCACTGTCC	0.448																																																	0													135.0	115.0	122.0					16																	9916231		2197	4300	6497	SO:0001819	synonymous_variant	2903				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2058T>C	16.37:g.9916231A>G			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P686	ENST00000396573.2	37	c.2058	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.448	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3	A			9916231	-1	no_errors	ENST00000330684	ensembl	human	known	70_37	silent	SNP	0.708	G
GRIN3B	116444	genome.wustl.edu	37	19	1004896	1004897	+	Frame_Shift_Ins	INS	-	-	CGTT	rs10666583|rs33955666	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr19:1004896_1004897insCGTT	ENST00000234389.3	+	3	1415_1416	c.1396_1397insCGTT	c.(1396-1398)ggcfs	p.G466fs	AC004528.4_ENST00000588380.1_RNA|GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	466					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)	p.G466fs*18(1)		breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTGGCCAACGGCTCAGCGCCC	0.683														797	0.159145	0.0938	0.2032	5008	,	,		15562	0.0714		0.2883	False		,,,				2504	0.1738																1	Insertion - Frameshift(1)	breast(1)								515,3739		32,451,1644				http://omim.org/entry/606651		3.5	0.7		dbSNP_119	45	2474,5754		374,1726,2014	yes	frameshift	GRIN3B	NM_138690.1		406,2177,3658	A1A1,A1R,RR		30.0681,12.1063,23.9465				2989,9493				SO:0001589	frameshift_variant	116444				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	Exception_encountered	19.37:g.1004896_1004897insCGTT	ENSP00000234389:p.Gly466fs		Q5EAK7|Q7RTW9	Frame_Shift_Ins	INS	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G466fs	ENST00000234389.3	37	c.1396_1397	CCDS32861.1	19																																																																																			GRIN3B	-	smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd		0.683	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	-			1004897	+1	no_errors	ENST00000234389	ensembl	human	known	70_37	frame_shift_ins	INS	0.993:0.989	CGTT
GVINP1	387751	genome.wustl.edu	37	11	6738168	6738168	+	RNA	SNP	C	C	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr11:6738168C>A	ENST00000526769.3	-	0	5036					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										TACGTCTAAGCACTGTTCTTG	0.493																																																	0																																												387751			BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6738168C>A			A6NFL2|Q9H8N5	RNA	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			GVINP1	-	-		0.493	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	C	NR_003945		6738168	-1	no_errors	ENST00000526769	ensembl	human	known	70_37	rna	SNP	0.977	A
HIST1H3I	8354	genome.wustl.edu	37	6	27839778	27839778	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:27839778C>G	ENST00000328488.2	-	1	321	c.316G>C	c.(316-318)Gag>Cag	p.E106Q		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	106					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGGTATCCTCAAATAGCCCC	0.572																																																	0													106.0	113.0	111.0					6																	27839778		2203	4300	6503	SO:0001583	missense	8354			X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.316G>C	6.37:g.27839778C>G	ENSP00000329554:p.Glu106Gln		A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E106Q	ENST00000328488.2	37	c.316	CCDS4636.1	6	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405928	0.62288	.	.	ENSG00000182572	ENST00000328488	T	0.71698	-0.59	4.12	4.12	0.48240	.	.	.	.	.	T	0.78278	0.4258	.	.	.	0.42313	D	0.992229	.	.	.	.	.	.	T	0.81391	-0.0954	6	0.87932	D	0	.	16.6345	0.85043	0.0:1.0:0.0:0.0	.	.	.	.	Q	106	ENSP00000329554:E106Q	ENSP00000329554:E106Q	E	-	1	0	HIST1H3I	27947757	1.000000	0.71417	0.998000	0.56505	0.539000	0.34962	7.370000	0.79589	2.580000	0.87095	0.650000	0.86243	GAG	HIST1H3I	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.572	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3I	HGNC	protein_coding	OTTHUMT00000043452.1	C	NM_003533		27839778	-1	no_errors	ENST00000328488	ensembl	human	known	70_37	missense	SNP	1.000	G
HLA-C	3107	genome.wustl.edu	37	6	31239049	31239050	+	Frame_Shift_Ins	INS	-	-	C	rs713032|rs1065406	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:31239049_31239050insC	ENST00000376228.5	-	3	433_434	c.419_420insG	c.(418-420)tccfs	p.S140fs	HLA-C_ENST00000383329.3_Frame_Shift_Ins_p.S140fs	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	140	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CGTCGTAGGCGGACTGGTCATA	0.708																																																	0																																										SO:0001589	frameshift_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.419_420insG	6.37:g.31239049_31239050insC	ENSP00000365402:p.Ser140fs		O02864|O02958|Q29643|Q9MY30	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.A178fs	ENST00000376228.5	37	c.531_530	CCDS34393.1	6																																																																																			HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.708	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	NM_002117		31239050	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	frame_shift_ins	INS	0.006:0.000	C
HLA-C	3107	genome.wustl.edu	37	6	31239050	31239051	+	Frame_Shift_Ins	INS	-	-	T	rs41553719|rs713032	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:31239050_31239051insT	ENST00000376228.5	-	3	432_433	c.418_419insA	c.(418-420)tccfs	p.S140fs	HLA-C_ENST00000383329.3_Frame_Shift_Ins_p.S140fs	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	140	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTCGTAGGCGGACTGGTCATAC	0.703																																																	0																																										SO:0001589	frameshift_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.418_419insA	6.37:g.31239050_31239051insT	ENSP00000365402:p.Ser140fs		O02864|O02958|Q29643|Q9MY30	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.S177fs	ENST00000376228.5	37	c.530_529	CCDS34393.1	6																																																																																			HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.703	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	-	NM_002117		31239051	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T
HDAC2	3066	genome.wustl.edu	37	6	114274456	114274456	+	Silent	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:114274456G>A	ENST00000519065.1	-	6	1000	c.624C>T	c.(622-624)ggC>ggT	p.G208G	HDAC2_ENST00000398283.2_Silent_p.G302G|HDAC2_ENST00000368632.2_Silent_p.G178G|HDAC2_ENST00000519108.1_Silent_p.G178G			Q92769	HDAC2_HUMAN	histone deacetylase 2	208	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	AGTCTCCTGTGCCAGGAAAGT	0.353																																																	0													167.0	156.0	159.0					6																	114274456		1848	4086	5934	SO:0001819	synonymous_variant	3066			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.624C>T	6.37:g.114274456G>A			B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Silent	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse_1,prints_His_deacetylse	p.G302	ENST00000519065.1	37	c.906	CCDS43493.2	6																																																																																			HDAC2	-	pfam_His_deacetylse_dom		0.353	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC2	HGNC	protein_coding	OTTHUMT00000041909.2	G			114274456	-1	no_errors	ENST00000398283	ensembl	human	known	70_37	silent	SNP	0.967	A
HSD11B2	3291	genome.wustl.edu	37	16	67469611	67469611	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr16:67469611T>G	ENST00000326152.5	+	2	478	c.346T>G	c.(346-348)Ttg>Gtg	p.L116V	HSD11B2_ENST00000567684.2_3'UTR|ATP6V0D1_ENST00000567694.1_5'Flank	NM_000196.3	NP_000187.3	P80365	DHI2_HUMAN	hydroxysteroid (11-beta) dehydrogenase 2	116					female pregnancy (GO:0007565)|glucocorticoid biosynthetic process (GO:0006704)|regulation of blood volume by renal aldosterone (GO:0002017)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)	endoplasmic reticulum (GO:0005783)	11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity (GO:0003845)|NAD binding (GO:0051287)|steroid binding (GO:0005496)			breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)		CGTATTGGAGTTGAACAGCCC	0.612																																																	0													58.0	43.0	48.0					16																	67469611		2198	4300	6498	SO:0001583	missense	3291			U14631	CCDS10837.1	16q22	2011-09-14			ENSG00000176387	ENSG00000176387	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5209	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 3"""	614232				7859916, 8611140, 19027726	Standard	NM_000196		Approved	SDR9C3	uc002etd.3	P80365	OTTHUMG00000137507	ENST00000326152.5:c.346T>G	16.37:g.67469611T>G	ENSP00000316786:p.Leu116Val		A7LB28|C5HTY7|Q13194|Q6P2G9|Q8N439|Q96QN8|Q9UC50|Q9UC51|Q9UCW5|Q9UCW6|Q9UCW7|Q9UCW8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	p.L116V	ENST00000326152.5	37	c.346	CCDS10837.1	16	.	.	.	.	.	.	.	.	.	.	T	3.765	-0.048855	0.07407	.	.	ENSG00000176387	ENST00000326152	D	0.87334	-2.24	5.37	-1.46	0.08800	NAD(P)-binding domain (1);	0.141517	0.45361	D	0.000372	T	0.70859	0.3272	N	0.16862	0.45	0.09310	N	1	B	0.30973	0.302	B	0.32928	0.155	T	0.60031	-0.7342	10	0.23302	T	0.38	.	5.4568	0.16594	0.1702:0.5122:0.0:0.3176	.	116	P80365	DHI2_HUMAN	V	116	ENSP00000316786:L116V	ENSP00000316786:L116V	L	+	1	2	HSD11B2	66027112	0.595000	0.26857	0.002000	0.10522	0.004000	0.04260	1.120000	0.31271	-0.125000	0.11703	0.533000	0.62120	TTG	HSD11B2	-	pfam_DH_sc/Rdtase_SDR		0.612	HSD11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD11B2	HGNC	protein_coding	OTTHUMT00000268826.3	T	NM_000196		67469611	+1	no_errors	ENST00000326152	ensembl	human	known	70_37	missense	SNP	0.003	G
HTT	3064	genome.wustl.edu	37	4	3190799	3190799	+	Silent	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr4:3190799C>T	ENST00000355072.5	+	40	5492	c.5347C>T	c.(5347-5349)Ctg>Ttg	p.L1783L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1783					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCTAATGTGTCTGATCCACAT	0.433																																																	0													184.0	173.0	177.0					4																	3190799		1976	4173	6149	SO:0001819	synonymous_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5347C>T	4.37:g.3190799C>T			Q9UQB7	Silent	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.L1783	ENST00000355072.5	37	c.5347	CCDS43206.1	4																																																																																			HTT	-	NULL		0.433	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	C	NM_002111		3190799	+1	no_errors	ENST00000355072	ensembl	human	known	70_37	silent	SNP	1.000	T
IGSF10	285313	genome.wustl.edu	37	3	151165584	151165584	+	Missense_Mutation	SNP	G	G	A	rs372971163		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr3:151165584G>A	ENST00000282466.3	-	4	2184	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	729					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAATCTCCACGTCGCTGGAGT	0.498																																																	0								G	CYS/ARG	0,4406		0,0,2203	83.0	70.0	74.0		2185	5.3	0.0	3		74	2,8598	2.2+/-6.3	0,2,4298	no	missense	IGSF10	NM_178822.4	180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	729/2624	151165584	2,13004	2203	4300	6503	SO:0001583	missense	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2185C>T	3.37:g.151165584G>A	ENSP00000282466:p.Arg729Cys		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R729C	ENST00000282466.3	37	c.2185	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211155	0.58343	0.0	2.33E-4	ENSG00000152580	ENST00000282466	T	0.71341	-0.56	5.26	5.26	0.73747	.	0.459579	0.18377	N	0.143093	T	0.67249	0.2873	L	0.32530	0.975	0.09310	N	0.999997	D	0.65815	0.995	P	0.49387	0.609	T	0.63373	-0.6652	10	0.66056	D	0.02	.	12.5612	0.56281	0.0:0.0:0.7089:0.2911	.	729	Q6WRI0	IGS10_HUMAN	C	729	ENSP00000282466:R729C	ENSP00000282466:R729C	R	-	1	0	IGSF10	152648274	0.026000	0.19158	0.023000	0.16930	0.007000	0.05969	2.173000	0.42472	2.455000	0.83008	0.591000	0.81541	CGT	IGSF10	-	NULL		0.498	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1	G	NM_178822		151165584	-1	no_errors	ENST00000282466	ensembl	human	known	70_37	missense	SNP	0.008	A
IL1RAPL2	26280	genome.wustl.edu	37	X	104999271	104999271	+	Silent	SNP	G	G	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chrX:104999271G>T	ENST00000372582.1	+	10	2049	c.1293G>T	c.(1291-1293)ctG>ctT	p.L431L	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Silent_p.L431L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	431	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TTGAAGTACTGCCAGATGTCC	0.378																																																	0													130.0	120.0	123.0					X																	104999271		2203	4300	6503	SO:0001819	synonymous_variant	26280			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1293G>T	X.37:g.104999271G>T			Q2M3U3|Q9NZN0	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II	p.L431	ENST00000372582.1	37	c.1293	CCDS14517.1	X																																																																																			IL1RAPL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.378	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1	G	NM_017416		104999271	+1	no_errors	ENST00000344799	ensembl	human	known	70_37	silent	SNP	0.997	T
IRX6	79190	genome.wustl.edu	37	16	55363210	55363210	+	Silent	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr16:55363210G>A	ENST00000290552.7	+	5	2652	c.1320G>A	c.(1318-1320)ccG>ccA	p.P440P	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	440					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCAGTACCCGTCTGGAGCAG	0.627																																																	0													33.0	39.0	37.0					16																	55363210		2197	4297	6494	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1320G>A	16.37:g.55363210G>A			B2RN06|Q7Z2K0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.P440	ENST00000290552.7	37	c.1320	CCDS32449.1	16																																																																																			IRX6	-	NULL		0.627	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	G	NM_024335		55363210	+1	no_errors	ENST00000290552	ensembl	human	known	70_37	silent	SNP	0.002	A
KCNK9	51305	genome.wustl.edu	37	8	140630966	140630966	+	Silent	SNP	G	G	A	rs111826894		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr8:140630966G>A	ENST00000520439.1	-	2	723	c.660C>T	c.(658-660)taC>taT	p.Y220Y	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Silent_p.Y220Y	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	220					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TAAAGGCCACGTAGAGCGGCT	0.557																																																	0													57.0	61.0	60.0					8																	140630966		2203	4300	6503	SO:0001819	synonymous_variant	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.660C>T	8.37:g.140630966G>A			Q2M290|Q540F2	Silent	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK3,prints_2pore_dom_K_chnl	p.Y220	ENST00000520439.1	37	c.660	CCDS6377.1	8																																																																																			KCNK9	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK		0.557	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK9	HGNC	protein_coding	OTTHUMT00000378473.1	G	NM_016601		140630966	-1	no_errors	ENST00000303015	ensembl	human	known	70_37	silent	SNP	1.000	A
KIF1A	547	genome.wustl.edu	37	2	241663449	241663449	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr2:241663449G>A	ENST00000320389.7	-	39	4116	c.3958C>T	c.(3958-3960)Cgt>Tgt	p.R1320C	KIF1A_ENST00000498729.2_Missense_Mutation_p.R1421C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1320					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGTCACACGGTTACTGTGG	0.622																																																	0													97.0	108.0	105.0					2																	241663449		2137	4245	6382	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3958C>T	2.37:g.241663449G>A	ENSP00000322791:p.Arg1320Cys		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1421C	ENST00000320389.7	37	c.4261	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290280	0.40494	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76060	-0.78;-0.86;-0.99	4.24	3.31	0.37934	.	0.059384	0.64402	U	0.000001	T	0.64382	0.2593	L	0.45285	1.41	0.58432	D	0.999998	B;B;B	0.31153	0.31;0.054;0.02	B;B;B	0.25759	0.063;0.004;0.006	T	0.69254	-0.5193	10	0.66056	D	0.02	.	12.2079	0.54363	0.0:0.0:0.829:0.171	.	1421;1429;1320	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	1320;1421;1429;1429	ENSP00000322791:R1320C;ENSP00000438388:R1421C;ENSP00000384231:R1429C	ENSP00000322791:R1320C	R	-	1	0	KIF1A	241312122	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	5.417000	0.66423	1.912000	0.55364	0.591000	0.81541	CGT	KIF1A	-	NULL		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	G	NM_138483		241663449	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	1.000	A
KRTAP16-1	100505753	genome.wustl.edu	37	17	39465098	39465098	+	Silent	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr17:39465098G>A	ENST00000391352.1	-	1	407	c.408C>T	c.(406-408)gcC>gcT	p.A136A		NM_001146182.1	NP_001139654.1	A8MUX0	KR161_HUMAN	keratin associated protein 16-1	136	11 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				haematopoietic_and_lymphoid_tissue(1)	1						CACAAACGGTGGCCTCAAAGC	0.562																																																	0																																										SO:0001819	synonymous_variant	100505753			AP001708	CCDS56032.1	17q21.2	2012-07-04			ENSG00000212657	ENSG00000212657		"""Keratin associated proteins"""	18916	protein-coding gene	gene with protein product							Standard	NM_001146182		Approved	KAP16.1	uc021txi.1	A8MUX0	OTTHUMG00000133640	ENST00000391352.1:c.408C>T	17.37:g.39465098G>A				Silent	SNP	NULL	p.A136	ENST00000391352.1	37	c.408	CCDS56032.1	17																																																																																			KRTAP16-1	-	NULL		0.562	KRTAP16-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP16-1	HGNC	protein_coding	OTTHUMT00000257785.1	G	NM_001146182		39465098	-1	no_errors	ENST00000391352	ensembl	human	known	70_37	silent	SNP	0.226	A
KRTAP27-1	643812	genome.wustl.edu	37	21	31709770	31709770	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr21:31709770C>T	ENST00000382835.2	-	1	242	c.217G>A	c.(217-219)Gat>Aat	p.D73N		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	73						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						ACACAGCTATCGTCTGTGAAT	0.468																																																	0													161.0	153.0	156.0					21																	31709770		2203	4300	6503	SO:0001583	missense	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.217G>A	21.37:g.31709770C>T	ENSP00000372286:p.Asp73Asn			Missense_Mutation	SNP	pfam_PMG	p.D73N	ENST00000382835.2	37	c.217	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	C	6.876	0.531088	0.13127	.	.	ENSG00000206107	ENST00000382835	T	0.33438	1.41	4.34	-1.86	0.07760	.	7.659710	0.00575	N	0.000303	T	0.12860	0.0312	N	0.02916	-0.46	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.13602	-1.0503	10	0.23302	T	0.38	3.7655	5.1381	0.14945	0.0:0.3833:0.1593:0.4575	.	73	Q3LI81	KR271_HUMAN	N	73	ENSP00000372286:D73N	ENSP00000372286:D73N	D	-	1	0	KRTAP27-1	30631641	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.709000	0.05030	-0.370000	0.08016	-0.191000	0.12829	GAT	KRTAP27-1	-	pfam_PMG		0.468	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	C	NM_001077711		31709770	-1	no_errors	ENST00000382835	ensembl	human	known	70_37	missense	SNP	0.000	T
LIFR	3977	genome.wustl.edu	37	5	38481717	38481718	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr5:38481717_38481718insA	ENST00000263409.4	-	20	3435_3436	c.3273_3274insT	c.(3271-3276)tttcagfs	p.Q1092fs	LIFR_ENST00000453190.2_Frame_Shift_Ins_p.Q1092fs	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	1092					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GGTTTGTTCTGAAAAAAGTTTG	0.416			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0																																										SO:0001589	frameshift_variant	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.3274dupT	5.37:g.38481723_38481723dupA	ENSP00000263409:p.Gln1092fs		Q6LCD9	Frame_Shift_Ins	INS	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q1091fs	ENST00000263409.4	37	c.3274_3273	CCDS3927.1	5																																																																																			LIFR	-	NULL		0.416	LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIFR	HGNC	protein_coding	OTTHUMT00000253823.1	-	NM_002310		38481718	-1	no_errors	ENST00000263409	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
MYT1L	23040	genome.wustl.edu	37	2	2328466	2328466	+	Intron	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr2:2328466G>A	ENST00000399161.2	-	1	228				MYT1L_ENST00000428368.2_Intron|AC009232.2_ENST00000448106.1_lincRNA	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTGTGCTGCGTGCATCAGGC	0.632																																																	0																																										SO:0001627	intron_variant	730811			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.520+6272C>T	2.37:g.2328466G>A			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			AC009232.2	-	-		0.632	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	LOC730811	Clone_based_vega_gene	protein_coding	OTTHUMT00000322493.1	G	NM_015025		2328466	+1	no_errors	ENST00000422175	ensembl	human	known	70_37	rna	SNP	0.000	A
MCM3AP	8888	genome.wustl.edu	37	21	47671275	47671276	+	Intron	INS	-	-	AAT	rs17176758|rs58355416|rs377243559|rs34553848	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr21:47671275_47671276insAAT	ENST00000397708.1	-	21	4545				MCM3AP-AS1_ENST00000590829.1_RNA|AP001469.9_ENST00000430259.1_RNA|MCM3AP_ENST00000291688.1_Intron|MCM3AP_ENST00000467026.1_Intron|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.9_ENST00000447037.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein						DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGCTTAAAAAAATTTTTTAAA	0.361														3868	0.772364	0.9175	0.8055	5008	,	,		18069	0.4425		0.8529	False		,,,				2504	0.8098																0																																										SO:0001627	intron_variant	114044			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4290+166->ATT	21.37:g.47671276_47671278dupAAT			C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	RNA	INS	-	NULL	ENST00000397708.1	37	NULL	CCDS13734.1	21																																																																																			MCM3AP-AS1	-	-		0.361	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP-AS1	HGNC	protein_coding	OTTHUMT00000207254.1	-	NM_003906		47671276	+1	no_errors	ENST00000414659	ensembl	human	known	70_37	rna	INS	0.131:0.098	AAT
STRBP	55342	genome.wustl.edu	37	9	125873139	125873139	+	Intron	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr9:125873139C>T	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						CATGGTAGGTCCCATCCCTGA	0.502																																																	0																																										SO:0001627	intron_variant	81571			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-1107G>A	9.37:g.125873139C>T			Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-		0.502	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	C			125873139	-1	no_errors	ENST00000449175	ensembl	human	known	70_37	rna	SNP	0.000	T
MKRN3	7681	genome.wustl.edu	37	15	23811385	23811385	+	Silent	SNP	G	G	A	rs536725835		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr15:23811385G>A	ENST00000314520.3	+	1	932	c.456G>A	c.(454-456)ccG>ccA	p.P152P	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	152					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCGAGCCCCCGACTCAGGAAG	0.637																																																	0													27.0	29.0	29.0					15																	23811385		2203	4300	6503	SO:0001819	synonymous_variant	7681			U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.456G>A	15.37:g.23811385G>A				Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.P152	ENST00000314520.3	37	c.456	CCDS10013.1	15																																																																																			MKRN3	-	NULL		0.637	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	HGNC	protein_coding	OTTHUMT00000251225.1	G	NM_005664		23811385	+1	no_errors	ENST00000314520	ensembl	human	known	70_37	silent	SNP	0.003	A
MLLT3	4300	genome.wustl.edu	37	9	20346393	20346393	+	3'UTR	SNP	C	C	A	rs552028867|rs375169457|rs367551063	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr9:20346393C>A	ENST00000380338.4	-	0	2041				MLLT3_ENST00000355930.6_3'UTR|MLLT3_ENST00000429426.2_3'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		aaaaaaaaaccaaaaaaaaaa	0.308			T	MLL	ALL								C|||	2051	0.409545	0.4085	0.3934	5008	,	,		18261	0.4246		0.3986	False		,,,				2504	0.4182							Dom	yes		9	9p22	4300	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""		L	0													33.0	33.0	33.0					9																	20346393		2203	4299	6502	SO:0001624	3_prime_UTR_variant	4300			L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.*48G>T	9.37:g.20346393C>A			B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	RNA	SNP	-	NULL	ENST00000380338.4	37	NULL	CCDS6494.1	9																																																																																			MLLT3	-	-		0.308	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT3	HGNC	protein_coding	OTTHUMT00000051872.1	C	NM_004529		20346393	-1	no_errors	ENST00000469261	ensembl	human	known	70_37	rna	SNP	0.035	A
MPHOSPH10	10199	genome.wustl.edu	37	2	71357945	71357945	+	Intron	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr2:71357945G>A	ENST00000244230.2	+	1	441				MCEE_ENST00000244217.5_5'Flank|MPHOSPH10_ENST00000468427.1_3'UTR|MPHOSPH10_ENST00000498451.2_Intron	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)						negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GCGGGTTGCAGGCCTCCGGCA	0.562																																																	0																																										SO:0001627	intron_variant	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.89+61G>A	2.37:g.71357945G>A			A0AVJ8	RNA	SNP	-	NULL	ENST00000244230.2	37	NULL	CCDS1916.1	2																																																																																			MPHOSPH10	-	-		0.562	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH10	HGNC	protein_coding	OTTHUMT00000251924.2	G	NM_005791		71357945	+1	no_errors	ENST00000468427	ensembl	human	putative	70_37	rna	SNP	0.000	A
SNED1	25992	genome.wustl.edu	37	2	242026909	242026909	+	Intron	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr2:242026909C>T	ENST00000310397.8	+	30	4205				SNED1_ENST00000342631.6_Intron|SNED1_ENST00000405547.3_Intron|MTERFD2_ENST00000464344.2_Intron	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GGGGAGCAGGCCCATGCCGTG	0.587																																																	0													28.0	29.0	28.0					2																	242026909		1953	4118	6071	SO:0001627	intron_variant	130916			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.4205+19C>T	2.37:g.242026909C>T			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	RNA	SNP	-	NULL	ENST00000310397.8	37	NULL	CCDS46562.1	2																																																																																			MTERFD2	-	-		0.587	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323935.2	C	XM_059482		242026909	-1	no_errors	ENST00000455202	ensembl	human	known	70_37	rna	SNP	0.007	T
MUC4	4585	genome.wustl.edu	37	3	195481096	195481096	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr3:195481096G>A	ENST00000346145.4	-	18	2647	c.2608C>T	c.(2608-2610)Cgg>Tgg	p.R870W	MUC4_ENST00000463781.3_Missense_Mutation_p.R5106W|MUC4_ENST00000475231.1_Missense_Mutation_p.R5054W|MUC4_ENST00000349607.4_Missense_Mutation_p.R819W	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1863	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCACAGTGCCGCCCATCCCCA	0.637																																																	0													64.0	69.0	68.0					3																	195481096		2203	4300	6503	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.2608C>T	3.37:g.195481096G>A	ENSP00000304207:p.Arg870Trp		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.R5106W	ENST00000346145.4	37	c.15316	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	9.925	1.213109	0.22289	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	T;T;T;T	0.39229	1.09;1.45;1.38;1.41	4.69	1.03	0.20045	.	0.281040	0.23125	N	0.051650	T	0.62183	0.2407	M	0.84219	2.685	0.20403	N	0.999907	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.79784	0.99;0.993;0.993;0.989;0.989;0.985	T	0.54430	-0.8295	10	0.40728	T	0.16	-5.2448	11.4798	0.50318	0.0:0.0:0.4757:0.5243	.	4978;819;870;5106;5054;1811	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	W	819;870;5106;5054;1606	ENSP00000338109:R819W;ENSP00000304207:R870W;ENSP00000417498:R5106W;ENSP00000420243:R5054W	ENSP00000304207:R870W	R	-	1	2	MUC4	196966767	0.001000	0.12720	0.857000	0.33713	0.077000	0.17291	0.588000	0.23924	0.448000	0.26722	0.443000	0.29094	CGG	MUC4	-	smart_EG-like_dom		0.637	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	G	NM_018406		195481096	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.597	A
NDN	4692	genome.wustl.edu	37	15	23931620	23931620	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr15:23931620G>A	ENST00000331837.4	-	1	830	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	249	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R249C(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TATGGGACGCGCTGGTACTTC	0.587									Prader-Willi syndrome																																								1	Substitution - Missense(1)	endometrium(1)											40.0	38.0	39.0					15																	23931620		2202	4300	6502	SO:0001583	missense	4692	Familial Cancer Database	Prader-Labhart-Willi syndrome	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.745C>T	15.37:g.23931620G>A	ENSP00000332643:p.Arg249Cys		B2R6Z5	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R249C	ENST00000331837.4	37	c.745	CCDS10014.1	15	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597503	0.66332	.	.	ENSG00000182636	ENST00000331837	T	0.05258	3.47	3.5	3.5	0.40072	.	0.148295	0.41194	D	0.000936	T	0.15522	0.0374	L	0.48362	1.52	0.44937	D	0.997954	D	0.76494	0.999	D	0.67900	0.954	T	0.00379	-1.1777	10	0.87932	D	0	.	10.8182	0.46589	0.0:0.0:1.0:0.0	.	249	Q99608	NECD_HUMAN	C	249	ENSP00000332643:R249C	ENSP00000332643:R249C	R	-	1	0	NDN	21482713	1.000000	0.71417	0.994000	0.49952	0.943000	0.58893	4.325000	0.59234	2.258000	0.74832	0.561000	0.74099	CGC	NDN	-	pfam_MAGE,pfscan_MAGE		0.587	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDN	HGNC	protein_coding	OTTHUMT00000251226.2	G	NM_002487		23931620	-1	no_errors	ENST00000331837	ensembl	human	known	70_37	missense	SNP	0.995	A
OGFRL1	79627	genome.wustl.edu	37	6	72011165	72011165	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:72011165C>T	ENST00000370435.4	+	7	903	c.769C>T	c.(769-771)Cct>Tct	p.P257S	RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	257						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						TTTTAAATCTCCTCTTGTAAA	0.338																																																	0													126.0	146.0	139.0					6																	72011165		2203	4300	6503	SO:0001583	missense	79627				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.769C>T	6.37:g.72011165C>T	ENSP00000359464:p.Pro257Ser		Q2TAC1|Q8NEQ4|Q9H7B5	Missense_Mutation	SNP	pfam_OGF_rcpt	p.P257S	ENST00000370435.4	37	c.769	CCDS34482.1	6	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906993	0.92107	.	.	ENSG00000119900	ENST00000370435	T	0.49720	0.77	6.04	6.04	0.98038	Opioid growth factor receptor (OGFr) conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.62723	1.935	0.80722	D	1	D	0.71674	0.998	D	0.65443	0.935	T	0.59241	-0.7491	10	0.54805	T	0.06	-19.4261	20.5948	0.99439	0.0:1.0:0.0:0.0	.	257	Q5TC84	OGRL1_HUMAN	S	257	ENSP00000359464:P257S	ENSP00000359464:P257S	P	+	1	0	OGFRL1	72067886	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.818000	0.86416	2.873000	0.98535	0.563000	0.77884	CCT	OGFRL1	-	pfam_OGF_rcpt		0.338	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	HGNC	protein_coding	OTTHUMT00000041153.2	C	NM_024576		72011165	+1	no_errors	ENST00000370435	ensembl	human	known	70_37	missense	SNP	1.000	T
OR2T5	401993	genome.wustl.edu	37	1	248651905	248651905	+	Missense_Mutation	SNP	A	A	T	rs199833498	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:248651905A>T	ENST00000366473.2	+	1	21	c.16A>T	c.(16-18)Agg>Tgg	p.R6W		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAACATCACCAGGATGGCCAA	0.468																																																	0								G	TRP/ARG	2483,1837		735,1013,412	9.0	18.0	15.0		16	-1.2	0.0	1	dbSNP_134	15	830,7564		23,784,3390	no	missense	OR2T5	NM_001004697.1	101	758,1797,3802	TT,TA,AA		9.888,42.5231,26.0579	benign	6/316	248651905	3313,9401	2160	4197	6357	SO:0001583	missense	401993			BK004465	CCDS31118.1	1q44	2012-08-09			ENSG00000203661	ENSG00000203661		"""GPCR / Class A : Olfactory receptors"""	15017	protein-coding gene	gene with protein product							Standard	NM_001004697		Approved		uc001iem.1	Q6IEZ7	OTTHUMG00000040481	ENST00000366473.2:c.16A>T	1.37:g.248651905A>T	ENSP00000355429:p.Arg6Trp			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R6W	ENST00000366473.2	37	c.16	CCDS31118.1	1	473	0.21657509157509158	267	0.5426829268292683	39	0.10773480662983426	102	0.17832167832167833	65	0.08575197889182058	N	5.318	0.244015	0.10077	0.574769	0.09888	ENSG00000203661	ENST00000366473	T	0.00466	7.23	1.62	-1.23	0.09465	.	0.645074	0.13113	N	0.412838	T	0.00012	0.0000	L	0.38175	1.15	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.07121	-1.0789	9	0.20519	T	0.43	.	2.9675	0.05912	0.4493:0.0:0.2207:0.33	.	6	Q6IEZ7	OR2T5_HUMAN	W	6	ENSP00000355429:R6W	ENSP00000355429:R6W	R	+	1	2	OR2T5	246718528	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.264000	0.02847	-0.288000	0.09051	-3.213000	0.00053	AGG	OR2T5	-	NULL		0.468	OR2T5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T5	HGNC	protein_coding	OTTHUMT00000097422.1	A	NM_001004697		248651905	+1	no_errors	ENST00000366473	ensembl	human	known	70_37	missense	SNP	0.000	T
PRSS55	203074	genome.wustl.edu	37	8	10395994	10395995	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr8:10395994_10395995insG	ENST00000328655.3	+	5	790_791	c.750_751insG	c.(751-753)gggfs	p.G251fs	PRSS55_ENST00000522210.1_Intron|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	251	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						AGGGTGACAGTGGGGGGCCTCT	0.589																																																	0									,	0,4264		0,0,2132					,	-1.2	1.0			52	1,8253		0,1,4126	no	frameshift,intron	PRSS55	NM_198464.3,NM_001197020.1	,	0,1,6258	A1A1,A1R,RR		0.0121,0.0,0.0080	,	,		1,12517				SO:0001589	frameshift_variant	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.756dupG	8.37:g.10396000_10396000dupG	ENSP00000333003:p.Gly251fs		E5RJX5	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P252fs	ENST00000328655.3	37	c.750_751	CCDS5976.1	8																																																																																			PRSS55	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.589	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS55	HGNC	protein_coding	OTTHUMT00000251493.3	-	NM_198464		10395995	+1	no_errors	ENST00000328655	ensembl	human	known	70_37	frame_shift_ins	INS	0.991:1.000	G
PMP2	5375	genome.wustl.edu	37	8	82357056	82357056	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr8:82357056G>C	ENST00000256103.2	-	2	378	c.242C>G	c.(241-243)aCc>aGc	p.T81S	PMP2_ENST00000519260.1_Intron|RP11-157I4.4_ENST00000524085.2_RNA	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	81					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			GATTACCTTGGTCTTTCTATT	0.383																																																	0													114.0	113.0	113.0					8																	82357056		2203	4300	6503	SO:0001583	missense	5375			X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"""Fatty acid binding protein family"""	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.242C>G	8.37:g.82357056G>C	ENSP00000256103:p.Thr81Ser		Q6FHL4	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.T81S	ENST00000256103.2	37	c.242	CCDS6229.1	8	.	.	.	.	.	.	.	.	.	.	G	10.65	1.409203	0.25378	.	.	ENSG00000147588	ENST00000256103	T	0.07800	3.16	5.68	5.68	0.88126	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.510114	0.24024	N	0.042246	T	0.14356	0.0347	M	0.77103	2.36	0.30387	N	0.781331	B	0.09022	0.002	B	0.13407	0.009	T	0.01561	-1.1324	10	0.48119	T	0.1	.	13.4727	0.61290	0.0806:0.0:0.9194:0.0	.	81	P02689	MYP2_HUMAN	S	81	ENSP00000256103:T81S	ENSP00000256103:T81S	T	-	2	0	PMP2	82519611	0.039000	0.19947	0.735000	0.30896	0.560000	0.35617	1.306000	0.33505	2.678000	0.91216	0.585000	0.79938	ACC	PMP2	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.383	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP2	HGNC	protein_coding	OTTHUMT00000379365.1	G	NM_002677		82357056	-1	no_errors	ENST00000256103	ensembl	human	known	70_37	missense	SNP	0.186	C
PTPRH	5794	genome.wustl.edu	37	19	55702891	55702891	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr19:55702891C>G	ENST00000376350.3	-	12	2384	c.2362G>C	c.(2362-2364)Gaa>Caa	p.E788Q	PTPRH_ENST00000588559.1_5'Flank|PTPRH_ENST00000263434.5_Missense_Mutation_p.E610Q	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	788					apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TCCCTGAGTTCTGGTTTCTGC	0.537																																																	0													233.0	233.0	233.0					19																	55702891		2203	4300	6503	SO:0001583	missense	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2362G>C	19.37:g.55702891C>G	ENSP00000365528:p.Glu788Gln		C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.E788Q	ENST00000376350.3	37	c.2362	CCDS33110.1	19	.	.	.	.	.	.	.	.	.	.	C	5.288	0.238470	0.10023	.	.	ENSG00000080031	ENST00000376350;ENST00000263434	T;T	0.06528	3.29;4.28	3.84	1.66	0.24008	.	8.348230	0.00531	N	0.000218	T	0.03348	0.0097	N	0.14661	0.345	0.09310	N	1	B;P	0.41102	0.159;0.738	B;B	0.28553	0.035;0.091	T	0.36720	-0.9736	10	0.16896	T	0.51	.	5.1371	0.14941	0.0:0.6707:0.2131:0.1162	.	610;788	C9JCH2;Q9HD43	.;PTPRH_HUMAN	Q	788;610	ENSP00000365528:E788Q;ENSP00000263434:E610Q	ENSP00000263434:E610Q	E	-	1	0	PTPRH	60394703	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.347000	0.20014	0.575000	0.29434	0.491000	0.48974	GAA	PTPRH	-	NULL		0.537	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	C			55702891	-1	no_errors	ENST00000376350	ensembl	human	known	70_37	missense	SNP	0.000	G
PTPRH	5794	genome.wustl.edu	37	19	55702910	55702910	+	Silent	SNP	C	C	T	rs2288523	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr19:55702910C>T	ENST00000376350.3	-	12	2365	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K	PTPRH_ENST00000588559.1_5'Flank|PTPRH_ENST00000263434.5_Silent_p.K603K	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	781			K -> N (in dbSNP:rs2288523).		apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCTGCTTCTTCTTATTCCTGG	0.552																																																	0													194.0	196.0	195.0					19																	55702910		2203	4300	6503	SO:0001819	synonymous_variant	5794				CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.2343G>A	19.37:g.55702910C>T			C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.K781	ENST00000376350.3	37	c.2343	CCDS33110.1	19																																																																																			PTPRH	-	NULL		0.552	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRH	HGNC	protein_coding	OTTHUMT00000452649.1	C			55702910	-1	no_errors	ENST00000376350	ensembl	human	known	70_37	silent	SNP	0.001	T
RAB35	11021	genome.wustl.edu	37	12	120534366	120534366	+	3'UTR	SNP	C	C	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr12:120534366C>A	ENST00000229340.5	-	0	1477				RAB35_ENST00000543364.1_5'Flank|RAB35_ENST00000432953.2_Missense_Mutation_p.L228F	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family						antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		GAAGGCAGGACAAGAAATCTG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	11021			X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.*683G>T	12.37:g.120534366C>A			B2R6E0|B4E390	Missense_Mutation	SNP	NULL	p.L228F	ENST00000229340.5	37	c.684	CCDS41846.1	12	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663200	0.29515	.	.	ENSG00000111737	ENST00000432953	.	.	.	5.24	0.716	0.18191	.	.	.	.	.	T	0.29126	0.0724	.	.	.	0.09310	N	1	B	0.22683	0.073	B	0.25884	0.064	T	0.34204	-0.9838	7	0.87932	D	0	.	2.5346	0.04711	0.1571:0.5183:0.1372:0.1874	.	228	G5E9K9	.	F	228	.	ENSP00000399317:L228F	L	-	3	2	RAB35	119018749	0.023000	0.18921	0.659000	0.29680	0.794000	0.44872	-0.039000	0.12124	0.205000	0.20568	-0.889000	0.02933	TTG	RAB35	-	NULL		0.557	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB35	HGNC	protein_coding	OTTHUMT00000402599.2	C			120534366	-1	no_errors	ENST00000432953	ensembl	human	known	70_37	missense	SNP	0.019	A
RB1	5925	genome.wustl.edu	37	13	48953743	48953743	+	Missense_Mutation	SNP	G	G	T	rs587778847		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr13:48953743G>T	ENST00000267163.4	+	14	1484	c.1346G>T	c.(1345-1347)gGa>gTa	p.G449V		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	449	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.G449fs*8(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TACAAACTTGGAGTTCGCTTG	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	bone(11)|breast(5)|central_nervous_system(3)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CD034936|CM030504	RB1	D|M							21.0	22.0	21.0					13																	48953743		2201	4300	6501	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1346G>T	13.37:g.48953743G>T	ENSP00000267163:p.Gly449Val		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.G449V	ENST00000267163.4	37	c.1346	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662210	0.88251	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.88586	-2.4	5.74	5.74	0.90152	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.93301	0.7865	L	0.49350	1.555	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93459	0.6809	10	0.87932	D	0	.	19.9145	0.97053	0.0:0.0:1.0:0.0	.	449	P06400	RB_HUMAN	V	428;449	ENSP00000267163:G449V	ENSP00000267163:G449V	G	+	2	0	RB1	47851744	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.953000	0.93041	2.707000	0.92482	0.557000	0.71058	GGA	RB1	-	pfam_RB_A,superfamily_Cyclin-like		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			48953743	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	missense	SNP	1.000	T
RB1	5925	genome.wustl.edu	37	13	48955492	48955492	+	Silent	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr13:48955492C>T	ENST00000267163.4	+	17	1746	c.1608C>T	c.(1606-1608)atC>atT	p.I536I		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	536	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAAGTTTTATCAAAGCAGAAG	0.353		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	23	Whole gene deletion(15)|Unknown(8)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											71.0	67.0	68.0					13																	48955492		2203	4299	6502	SO:0001819	synonymous_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1608C>T	13.37:g.48955492C>T			A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.I536	ENST00000267163.4	37	c.1608	CCDS31973.1	13																																																																																			RB1	-	pfam_RB_A,superfamily_Cyclin-like		0.353	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	C			48955492	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	silent	SNP	1.000	T
RNF125	54941	genome.wustl.edu	37	18	29617087	29617087	+	Missense_Mutation	SNP	G	G	A	rs201216500		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr18:29617087G>A	ENST00000217740.3	+	2	665	c.173G>A	c.(172-174)cGt>cAt	p.R58H	RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	58					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGATTCTGCCGTTCCTGTATT	0.413																																																	0								G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	324.0	297.0	306.0		173	4.7	1.0	18		306	0,8600		0,0,4300	no	missense	RNF125	NM_017831.3	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	58/233	29617087	2,13004	2203	4300	6503	SO:0001583	missense	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.173G>A	18.37:g.29617087G>A	ENSP00000217740:p.Arg58His		Q9NX39	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.R58H	ENST00000217740.3	37	c.173	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889028	0.52014	4.54E-4	0.0	ENSG00000101695	ENST00000217740	T	0.20738	2.05	5.57	4.7	0.59300	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type, conserved site (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.52532	D	0.000078	T	0.16342	0.0393	L	0.48642	1.525	0.28167	N	0.928711	P	0.37398	0.593	B	0.31686	0.134	T	0.13656	-1.0501	10	0.44086	T	0.13	-2.2451	8.6224	0.33868	0.1725:0.0:0.8275:0.0	.	58	Q96EQ8	RN125_HUMAN	H	58	ENSP00000217740:R58H	ENSP00000217740:R58H	R	+	2	0	RNF125	27871085	0.997000	0.39634	1.000000	0.80357	0.971000	0.66376	1.975000	0.40569	1.359000	0.45940	0.650000	0.86243	CGT	RNF125	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.413	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	G	NM_017831		29617087	+1	no_errors	ENST00000217740	ensembl	human	known	70_37	missense	SNP	1.000	A
RPS18	6222	genome.wustl.edu	37	6	33239880	33239880	+	5'UTR	SNP	C	C	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:33239880C>A	ENST00000439602.2	+	0	94				RPS18_ENST00000474973.1_5'UTR|VPS52_ENST00000482399.1_5'Flank|VPS52_ENST00000436044.2_5'Flank|VPS52_ENST00000445902.2_5'Flank|RPS18_ENST00000476222.1_3'UTR|VPS52_ENST00000478934.1_5'Flank			P62269	RS18_HUMAN	ribosomal protein S18						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CTACACGCCGCCGCTTGTGCT	0.582																																																	0													24.0	15.0	18.0					6																	33239880		1506	2697	4203	SO:0001623	5_prime_UTR_variant	6222			X69150	CCDS4771.1	6p21.3	2011-04-05			ENSG00000231500	ENSG00000231500		"""S ribosomal proteins"""	10401	protein-coding gene	gene with protein product		180473		D6S218E		8441687, 9582194	Standard	NM_022551		Approved	KE3, KE-3, HKE3, S18	uc003odp.1	P62269	OTTHUMG00000031053	ENST00000439602.2:c.-17C>A	6.37:g.33239880C>A			P25232|Q5SUJ3|Q6IPF8	RNA	SNP	-	NULL	ENST00000439602.2	37	NULL	CCDS4771.1	6																																																																																			RPS18	-	-		0.582	RPS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS18	HGNC	protein_coding	OTTHUMT00000076059.2	C			33239880	+1	no_errors	ENST00000476222	ensembl	human	known	70_37	rna	SNP	1.000	A
RUNDC3A	10900	genome.wustl.edu	37	17	42395476	42395476	+	Missense_Mutation	SNP	C	C	T	rs550029507	byFrequency	TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr17:42395476C>T	ENST00000426726.3	+	11	1485	c.1211C>T	c.(1210-1212)aCg>aTg	p.T404M	AC003102.3_ENST00000588097.1_RNA	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	404					positive regulation of cGMP biosynthetic process (GO:0030828)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanylate cyclase activator activity (GO:0030250)|small GTPase regulator activity (GO:0005083)			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		AAGGACCCCACGCCCTCCATG	0.642													C|||	2	0.000399361	0.0	0.0029	5008	,	,		17947	0.0		0.0	False		,,,				2504	0.0				Pancreas(82;1061 1416 11136 20771 23901)												0													56.0	56.0	56.0					17																	42395476		692	1591	2283	SO:0001583	missense	10900			AF055026	CCDS45698.1, CCDS45699.1, CCDS59294.1	17q21.31	2008-02-05			ENSG00000108309	ENSG00000108309			16984	protein-coding gene	gene with protein product		605448				9523700	Standard	NM_006695		Approved	RPIP8, RAP2IP	uc002igl.4	Q59EK9	OTTHUMG00000169259	ENST00000426726.3:c.1211C>T	17.37:g.42395476C>T	ENSP00000410862:p.Thr404Met		B2R974|O15483|O60651|Q7Z3S2|Q9UF50	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.T404M	ENST00000426726.3	37	c.1211	CCDS45698.1	17	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488857	0.84962	.	.	ENSG00000108309	ENST00000426726	T	0.61392	0.11	4.81	4.81	0.61882	.	.	.	.	.	T	0.70727	0.3257	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.73824	-0.3861	9	0.87932	D	0	-13.5231	16.8235	0.85924	0.0:1.0:0.0:0.0	.	404	Q59EK9	RUN3A_HUMAN	M	404	ENSP00000410862:T404M	ENSP00000410862:T404M	T	+	2	0	RUNDC3A	39751002	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.453000	0.66645	2.477000	0.83638	0.561000	0.74099	ACG	RUNDC3A	-	NULL		0.642	RUNDC3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC3A	HGNC	protein_coding	OTTHUMT00000403173.2	C	NM_006695		42395476	+1	no_errors	ENST00000426726	ensembl	human	known	70_37	missense	SNP	1.000	T
SCN2A	6326	genome.wustl.edu	37	2	166167041	166167041	+	Silent	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr2:166167041G>A	ENST00000375437.2	+	7	1196	c.906G>A	c.(904-906)ggG>ggA	p.G302G	SCN2A_ENST00000283256.6_Silent_p.G302G|SCN2A_ENST00000357398.3_Silent_p.G302G|SCN2A_ENST00000375427.2_Silent_p.G302G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	302					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CATTGGATGGGAATGGTACTA	0.323																																																	0													91.0	91.0	91.0					2																	166167041		2203	4299	6502	SO:0001819	synonymous_variant	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.906G>A	2.37:g.166167041G>A			A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.G302	ENST00000375437.2	37	c.906	CCDS33314.1	2																																																																																			SCN2A	-	pfam_Ion_trans_dom		0.323	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166167041	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	silent	SNP	0.640	A
SCRN1	9805	genome.wustl.edu	37	7	29994813	29994813	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:29994813A>G	ENST00000426154.1	-	3	499	c.323T>C	c.(322-324)cTg>cCg	p.L108P	SCRN1_ENST00000434476.2_Missense_Mutation_p.L128P|SCRN1_ENST00000416113.2_5'UTR|SCRN1_ENST00000425819.2_Missense_Mutation_p.L40P|SCRN1_ENST00000409570.1_Missense_Mutation_p.L108P|SCRN1_ENST00000409497.1_Missense_Mutation_p.L108P|SCRN1_ENST00000242059.5_Missense_Mutation_p.L108P|SCRN1_ENST00000494620.1_5'UTR	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	108					exocytosis (GO:0006887)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	dipeptidase activity (GO:0016805)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ATCCATCCCCAGCAAGGCTTC	0.488																																																	0													122.0	112.0	115.0					7																	29994813		2203	4300	6503	SO:0001583	missense	9805			D83777	CCDS5422.1, CCDS47567.1, CCDS47568.1	7p14.3-p14.1	2006-09-06			ENSG00000136193	ENSG00000136193			22192	protein-coding gene	gene with protein product		614965				12221138	Standard	NM_014766		Approved	KIAA0193	uc011kaa.2	Q12765	OTTHUMG00000097093	ENST00000426154.1:c.323T>C	7.37:g.29994813A>G	ENSP00000409068:p.Leu108Pro		A8K0E9|B4DHM0|B4DIP5|C9JPG0|Q25QX7|Q8IWD1	Missense_Mutation	SNP	pfam_Peptidase_C69	p.L128P	ENST00000426154.1	37	c.383	CCDS5422.1	7	.	.	.	.	.	.	.	.	.	.	A	21.1	4.101680	0.76983	.	.	ENSG00000136193	ENST00000242059;ENST00000426154;ENST00000425819;ENST00000409497;ENST00000434476;ENST00000421434;ENST00000438497;ENST00000409570	T;T;T;T;T;T;T;T	0.47869	2.03;2.03;2.03;2.03;2.03;2.03;1.09;0.83	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000016	T	0.74997	0.3790	M	0.91663	3.23	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.97110	0.99;1.0;0.99	T	0.81138	-0.1069	9	.	.	.	-11.3346	14.79	0.69833	1.0:0.0:0.0:0.0	.	128;40;108	C9JPG0;B4DIP5;Q12765	.;.;SCRN1_HUMAN	P	108;108;40;108;128;108;108;108	ENSP00000242059:L108P;ENSP00000409068:L108P;ENSP00000414245:L40P;ENSP00000386872:L108P;ENSP00000388942:L128P;ENSP00000413184:L108P;ENSP00000406289:L108P;ENSP00000387052:L108P	.	L	-	2	0	SCRN1	29961338	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	8.781000	0.91805	2.186000	0.69663	0.455000	0.32223	CTG	SCRN1	-	pfam_Peptidase_C69		0.488	SCRN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SCRN1	HGNC	protein_coding	OTTHUMT00000214231.2	A	NM_014766		29994813	-1	no_errors	ENST00000434476	ensembl	human	known	70_37	missense	SNP	1.000	G
SETX	23064	genome.wustl.edu	37	9	135150445	135150445	+	Intron	SNP	C	C	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr9:135150445C>A	ENST00000224140.5	-	23	7283				SETX_ENST00000393220.1_Intron|SETX_ENST00000477049.1_Intron|SETX_ENST00000372169.2_Intron	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin						cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GTTGACATTCCAACTGCCAGG	0.463																																																	0																																										SO:0001627	intron_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.7100+197G>T	9.37:g.135150445C>A			A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	RNA	SNP	-	NULL	ENST00000224140.5	37	NULL	CCDS6947.1	9																																																																																			SETX	-	-		0.463	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	C	NM_015046		135150445	-1	no_errors	ENST00000464133	ensembl	human	known	70_37	rna	SNP	0.000	A
SMG7	9887	genome.wustl.edu	37	1	183515398	183515399	+	Frame_Shift_Ins	INS	-	-	T	rs193125763		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:183515398_183515399insT	ENST00000347615.2	+	17	2787_2788	c.2668_2669insT	c.(2668-2670)atafs	p.I890fs	SMG7_ENST00000507469.1_Frame_Shift_Ins_p.I844fs|SMG7_ENST00000456731.2_Frame_Shift_Ins_p.I802fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.I873fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.I848fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.I844fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	890					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAAGCAAACATAGACCGCAGG	0.49																																																	0																																										SO:0001589	frameshift_variant	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2669dupT	1.37:g.183515399_183515399dupT	ENSP00000340766:p.Ile890fs		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	pfam_EST1	p.D845fs	ENST00000347615.2	37	c.2530_2531	CCDS1355.1	1																																																																																			SMG7	-	NULL		0.490	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	HGNC	protein_coding	OTTHUMT00000085432.1	-	NM_014837		183515399	+1	no_errors	ENST00000507469	ensembl	human	known	70_37	frame_shift_ins	INS	0.013:0.939	T
SSTR5	6755	genome.wustl.edu	37	16	1129641	1129641	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr16:1129641C>T	ENST00000293897.4	+	1	861	c.773C>T	c.(772-774)gCg>gTg	p.A258V	SSTR5-AS1_ENST00000569832.1_RNA|SSTR5_ENST00000397547.2_Missense_Mutation_p.A258V|SSTR5_ENST00000562758.1_Intron	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	258					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cytokinesis (GO:0032467)|regulation of insulin secretion (GO:0050796)|somatostatin signaling pathway (GO:0038170)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	CTGGTGTTTGCGGGATGTTGG	0.682																																																	0													228.0	202.0	210.0					16																	1129641		2195	4297	6492	SO:0001583	missense	6755			D16827	CCDS10429.1	16p13.3	2012-08-08			ENSG00000162009	ENSG00000162009		"""GPCR / Class A : Somatostatin receptors"""	11334	protein-coding gene	gene with protein product		182455				7607700	Standard	NM_001053		Approved		uc021taf.1	P35346	OTTHUMG00000047842	ENST00000293897.4:c.773C>T	16.37:g.1129641C>T	ENSP00000293897:p.Ala258Val		P34988|Q541E0|Q9UJI5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt	p.A258V	ENST00000293897.4	37	c.773	CCDS10429.1	16	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.399247	0.01165	.	.	ENSG00000162009	ENST00000397547;ENST00000293897	T;T	0.70164	-0.46;-0.46	4.76	-1.81	0.07882	GPCR, rhodopsin-like superfamily (1);	0.134582	0.49305	N	0.000151	T	0.28134	0.0694	N	0.01649	-0.78	0.23510	N	0.997523	B	0.06786	0.001	B	0.08055	0.003	T	0.36504	-0.9745	10	0.02654	T	1	.	9.6906	0.40125	0.0:0.3745:0.0:0.6255	.	258	P35346	SSR5_HUMAN	V	258	ENSP00000380680:A258V;ENSP00000293897:A258V	ENSP00000293897:A258V	A	+	2	0	SSTR5	1069642	1.000000	0.71417	0.471000	0.27229	0.094000	0.18550	1.518000	0.35877	-0.727000	0.04888	-0.254000	0.11334	GCG	SSTR5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.682	SSTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSTR5	HGNC	protein_coding	OTTHUMT00000420836.1	C			1129641	+1	no_errors	ENST00000293897	ensembl	human	known	70_37	missense	SNP	0.990	T
SVIL	6840	genome.wustl.edu	37	10	29819538	29819538	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr10:29819538T>C	ENST00000355867.4	-	11	2856	c.2104A>G	c.(2104-2106)Agg>Ggg	p.R702G	SVIL_ENST00000375400.3_Missense_Mutation_p.R308G|SVIL_ENST00000375398.2_Missense_Mutation_p.R702G	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	702					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGCTTACCCTGAAAAGCAAC	0.488																																																	0													197.0	181.0	186.0					10																	29819538		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.2104A>G	10.37:g.29819538T>C	ENSP00000348128:p.Arg702Gly		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.R702G	ENST00000355867.4	37	c.2104	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	T	23.4	4.410911	0.83340	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867	T;T;T	0.66460	-0.21;-0.21;-0.21	5.41	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.80019	0.4547	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80063	-0.1539	9	.	.	.	-27.9244	12.7601	0.57359	0.0:0.0:0.1372:0.8628	.	308;702	O95425-2;O95425	.;SVIL_HUMAN	G	308;702;702	ENSP00000364549:R308G;ENSP00000364547:R702G;ENSP00000348128:R702G	.	R	-	1	2	SVIL	29859544	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.035000	0.49759	0.974000	0.38366	0.533000	0.62120	AGG	SVIL	-	NULL		0.488	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	T			29819538	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	missense	SNP	1.000	C
TCL6	27004	genome.wustl.edu	37	14	96138553	96138554	+	RNA	INS	-	-	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr14:96138553_96138554insT	ENST00000467865.1	+	0	2427_2428				RP11-1070N10.6_ENST00000461160.1_RNA					T-cell leukemia/lymphoma 6 (non-protein coding)											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		GAGACCTTTGATTTTTTGCCCA	0.431			T	TRA@	T-ALL																																			Dom	yes		14	14q32.1	27004	T-cell leukemia/lymphoma 6		L	0																																												27004			AB035338		14q32.1	2012-10-16	2010-06-01		ENSG00000187621	ENSG00000187621		"""Long non-coding RNAs"""	13463	non-coding RNA	RNA, long non-coding		604412	"""T-cell leukemia/lymphoma 6"""			10588720, 10851082	Standard	NR_028288		Approved	TCL6e1, TNG2, TNG1	uc001yev.2		OTTHUMG00000149979		14.37:g.96138559_96138559dupT				RNA	INS	-	NULL	ENST00000467865.1	37	NULL		14																																																																																			TCL6	-	-		0.431	TCL6-009	KNOWN	basic	lincRNA	TCL6	HGNC	processed_transcript	OTTHUMT00000315133.1	-	NM_012468		96138554	+1	no_errors	ENST00000459662	ensembl	human	known	70_37	rna	INS	0.005:0.003	T
TDRD6	221400	genome.wustl.edu	37	6	46660090	46660090	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:46660090G>A	ENST00000316081.6	+	1	4225	c.4225G>A	c.(4225-4227)Gca>Aca	p.A1409T	TDRD6_ENST00000544460.1_Missense_Mutation_p.A1409T	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1409	Tudor 6. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCTTGTTAATGCAATATTGCC	0.403																																																	0													204.0	211.0	208.0					6																	46660090		2203	4299	6502	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4225G>A	6.37:g.46660090G>A	ENSP00000346065:p.Ala1409Thr		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.A1409T	ENST00000316081.6	37	c.4225	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	8.173	0.792164	0.16258	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.10005	2.92;2.92	5.62	3.86	0.44501	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.464888	0.24630	N	0.036898	T	0.05044	0.0135	L	0.59912	1.85	0.09310	N	1	P;P	0.50066	0.915;0.931	P;P	0.49799	0.487;0.622	T	0.22626	-1.0211	10	0.18276	T	0.48	-17.9425	3.2407	0.06779	0.1493:0.1133:0.5705:0.1669	.	1409;1409	F5H5M3;O60522	.;TDRD6_HUMAN	T	1409	ENSP00000443299:A1409T;ENSP00000346065:A1409T	ENSP00000346065:A1409T	A	+	1	0	TDRD6	46768049	0.050000	0.20438	0.003000	0.11579	0.025000	0.11179	1.102000	0.31050	0.864000	0.35578	-0.742000	0.03525	GCA	TDRD6	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.403	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46660090	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	0.000	A
TET1	80312	genome.wustl.edu	37	10	70404465	70404465	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr10:70404465A>G	ENST00000373644.4	+	4	2188	c.1979A>G	c.(1978-1980)gAc>gGc	p.D660G		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	660	Sufficient for binding to genomic CpG islands.				chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GCAGATTTTGACAACAAACCA	0.328																																																	0													35.0	36.0	36.0					10																	70404465		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1979A>G	10.37:g.70404465A>G	ENSP00000362748:p.Asp660Gly		Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.D660G	ENST00000373644.4	37	c.1979	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707580	0.30322	.	.	ENSG00000138336	ENST00000373644	T	0.08720	3.06	5.93	-0.889	0.10580	.	1.691840	0.03246	N	0.181139	T	0.06554	0.0168	L	0.27053	0.805	0.19300	N	0.999974	B	0.06786	0.001	B	0.04013	0.001	T	0.37502	-0.9703	10	0.34782	T	0.22	.	4.5273	0.11988	0.5283:0.0:0.1311:0.3406	.	660	Q8NFU7	TET1_HUMAN	G	660	ENSP00000362748:D660G	ENSP00000362748:D660G	D	+	2	0	TET1	70074471	0.997000	0.39634	0.678000	0.29963	0.726000	0.41606	1.658000	0.37376	-0.397000	0.07691	-0.301000	0.09380	GAC	TET1	-	NULL		0.328	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	A	NM_030625		70404465	+1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.941	G
TIE1	7075	genome.wustl.edu	37	1	43779725	43779726	+	Intron	DEL	TG	TG	-	rs138876276		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr1:43779725_43779726delTG	ENST00000372476.3	+	14	2488				TIE1_ENST00000473014.1_Intron|TIE1_ENST00000433781.2_Intron	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1						angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGTACACCTtgtgtgtgtgtg	0.436																																																	0																																										SO:0001627	intron_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2409+86TG>-	1.37:g.43779735_43779736delTG			B5A949|B5A950	RNA	DEL	-	NULL	ENST00000372476.3	37	NULL	CCDS482.1	1																																																																																			TIE1	-	-		0.436	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	TG	NM_005424		43779726	+1	no_errors	ENST00000471187	ensembl	human	known	70_37	rna	DEL	0.002:0.002	-
TMCO5A	145942	genome.wustl.edu	37	15	38229077	38229077	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr15:38229077G>A	ENST00000319669.4	+	3	272	c.170G>A	c.(169-171)gGc>gAc	p.G57D	TMCO5A_ENST00000540944.1_Missense_Mutation_p.G57D|TMCO5A_ENST00000558158.1_Missense_Mutation_p.G57D|TMCO5A_ENST00000559502.1_Missense_Mutation_p.G57D	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	57				G -> D (in Ref. 1; BAC04065). {ECO:0000305}.		integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CAGACGCGGGGCCTGGTGGAA	0.512																																																	0													91.0	88.0	89.0					15																	38229077		2200	4297	6497	SO:0001583	missense	145942			BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.170G>A	15.37:g.38229077G>A	ENSP00000327234:p.Gly57Asp		Q8NA63	Missense_Mutation	SNP	NULL	p.G57D	ENST00000319669.4	37	c.170	CCDS10046.1	15	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.960843	0.00465	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.42	4.42	0.53409	.	0.638898	0.15433	N	0.262607	T	0.07638	0.0192	N	0.00605	-1.335	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33979	-0.9847	9	0.02654	T	1	-5.6368	6.9795	0.24696	0.8991:0.0:0.1009:0.0	.	57;57	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	D	57	.	ENSP00000327234:G57D	G	+	2	0	TMCO5A	36016369	0.070000	0.21116	0.013000	0.15412	0.007000	0.05969	2.442000	0.44873	1.031000	0.39867	-0.254000	0.11334	GGC	TMCO5A	-	NULL		0.512	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO5A	HGNC	protein_coding	OTTHUMT00000252012.1	G	NM_152453		38229077	+1	no_errors	ENST00000319669	ensembl	human	known	70_37	missense	SNP	0.015	A
TRIM73	375593	genome.wustl.edu	37	7	75028599	75028599	+	Missense_Mutation	SNP	G	G	A	rs199603365		TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr7:75028599G>A	ENST00000437796.1	+	1	401	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	TRIM73_ENST00000447409.2_Missense_Mutation_p.V128I|TRIM73_ENST00000323819.3_Missense_Mutation_p.V128I|TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000430211.1_Missense_Mutation_p.V128I			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	128						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGTCTCCACCGTCTGCAGCCG	0.672																																																	0													1.0	2.0	2.0					7																	75028599		319	1397	1716	SO:0001583	missense	375593			AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.382G>A	7.37:g.75028599G>A	ENSP00000417040:p.Val128Ile		Q8N0S3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.V128I	ENST00000437796.1	37	c.382	CCDS34665.1	7	.	.	.	.	.	.	.	.	.	.	G	15.87	2.960623	0.53400	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	2.31	2.31	0.28768	.	0.119478	0.36519	N	0.002554	T	0.32912	0.0845	N	0.24115	0.695	0.25573	N	0.986874	P;P	0.50156	0.932;0.932	B;B	0.36845	0.234;0.234	T	0.32295	-0.9912	10	0.46703	T	0.11	.	12.185	0.54234	0.0:0.0:1.0:0.0	.	128;128	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	I	128	ENSP00000318615:V128I;ENSP00000410121:V128I;ENSP00000407135:V128I;ENSP00000417040:V128I	ENSP00000318615:V128I	V	+	1	0	TRIM73	74866535	0.378000	0.25114	1.000000	0.80357	0.868000	0.49771	2.680000	0.46918	1.612000	0.50221	0.400000	0.26472	GTC	TRIM73	-	NULL		0.672	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM73	HGNC	protein_coding	OTTHUMT00000342950.1	G			75028599	+1	no_errors	ENST00000323819	ensembl	human	known	70_37	missense	SNP	1.000	A
UAP1L1	91373	genome.wustl.edu	37	9	139972841	139972841	+	Intron	SNP	C	C	T			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr9:139972841C>T	ENST00000409858.3	+	3	526				UAP1L1_ENST00000360271.3_Missense_Mutation_p.P5S|UAP1L1_ENST00000476184.1_Intron	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1								uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GGGGCCTGGCCCCAGCCCCAA	0.726																																																	0													11.0	14.0	13.0					9																	139972841		2182	4274	6456	SO:0001627	intron_variant	91373			AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.495-113C>T	9.37:g.139972841C>T			A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Missense_Mutation	SNP	pfam_UDPGP_trans	p.P5S	ENST00000409858.3	37	c.13	CCDS7028.2	9	.	.	.	.	.	.	.	.	.	.	C	5.583	0.292304	0.10567	.	.	ENSG00000197355	ENST00000360271	T	0.25085	1.82	2.41	-4.81	0.03180	.	1.269160	0.05883	U	0.626743	T	0.14614	0.0353	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27365	-1.0076	9	0.66056	D	0.02	.	1.0544	0.01587	0.1573:0.1787:0.1754:0.4885	.	5	Q3KQV9-2	.	S	5	ENSP00000353409:P5S	ENSP00000353409:P5S	P	+	1	0	UAP1L1	139092662	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.225000	0.09151	-1.528000	0.01756	-0.266000	0.10368	CCC	UAP1L1	-	NULL		0.726	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UAP1L1	HGNC	protein_coding	OTTHUMT00000055216.2	C	XM_038063		139972841	+1	no_errors	ENST00000360271	ensembl	human	known	70_37	missense	SNP	0.000	T
VPS52	6293	genome.wustl.edu	37	6	33237790	33237790	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr6:33237790C>G	ENST00000445902.2	-	3	432	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000482399.1_Intron|VPS52_ENST00000436044.2_5'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	72					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTAAGAGCTTCCTTTACTAAC	0.428																																																	0													113.0	106.0	108.0					6																	33237790		1511	2709	4220	SO:0001583	missense	6293			AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.214G>C	6.37:g.33237790C>G	ENSP00000409952:p.Glu72Gln		A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	pfam_Vps52,pfam_Exocyst_Exoc1	p.E72Q	ENST00000445902.2	37	c.214	CCDS4770.2	6	.	.	.	.	.	.	.	.	.	.	C	16.61	3.171115	0.57584	.	.	ENSG00000223501	ENST00000445902;ENST00000418054	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	L	0.51914	1.62	0.80722	D	1	P	0.37663	0.604	B	0.41299	0.353	T	0.46020	-0.9221	9	0.42905	T	0.14	-15.6572	14.5864	0.68328	0.0:1.0:0.0:0.0	.	72	Q8N1B4	VPS52_HUMAN	Q	72;50	.	ENSP00000414785:E50Q	E	-	1	0	VPS52	33345768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.220000	0.72237	2.826000	0.97356	0.579000	0.79373	GAA	VPS52	-	NULL		0.428	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS52	HGNC	protein_coding	OTTHUMT00000076598.2	C	NM_022553		33237790	-1	no_errors	ENST00000445902	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF707	286075	genome.wustl.edu	37	8	144773223	144773223	+	Intron	SNP	G	G	A			TCGA-EA-A5ZE-01A-11D-A28B-09	TCGA-EA-A5ZE-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	6b3cc4aa-e55d-4fcb-bd44-8ebc4f657ee2	dc1b5352-cd76-41bb-87da-e8c01a6b87a5	g.chr8:144773223G>A	ENST00000532205.1	+	6	914				ZNF707_ENST00000532158.1_Intron|ZNF707_ENST00000418203.2_Intron|ZNF707_ENST00000442058.2_Intron|ZNF707_ENST00000454097.1_Intron|ZNF707_ENST00000358656.4_Intron			Q96C28	ZN707_HUMAN	zinc finger protein 707						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGCCTCTTCGGGAGCTGTGT	0.602																																																	0													41.0	47.0	45.0					8																	144773223		2176	4278	6454	SO:0001627	intron_variant	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.16-20G>A	8.37:g.144773223G>A			A8K317|B3KNY1|D3DWK7	RNA	SNP	-	NULL	ENST00000532205.1	37	NULL	CCDS47932.1	8																																																																																			ZNF707	-	-		0.602	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF707	HGNC	protein_coding	OTTHUMT00000382197.1	G	NM_173831		144773223	+1	no_errors	ENST00000530341	ensembl	human	known	70_37	rna	SNP	0.009	A
